For the latest COVID-19 campus news and resources, visit umassmed.edu/coronavirus.

Search Close Search
Page Menu

Publications

Total: displaying 25 out of 180 results
  • Whole-genome sequencing reveals that variants in the Interleukin 18 Receptor Accessory Protein 3'UTR protect against ALS

    Friday, April 01, 2022
    Author(s): Chen Eitan,Aviad Siany,Elad Barkan,Tsviya Olender,Kristel R van Eijk,Matthieu Moisse,Sali M K Farhan,Yehuda M Danino,Eran Yanowski,Hagai Marmor-Kollet,Natalia Rivkin,Nancy Sarah Yacovzada,Shu-Ting Hung,Johnathan Cooper-Knock,Chien-Hsiung Yu,Cynthia Louis,Seth L Masters,Kevin P Kenna,Rick A A van der Spek,William Sproviero,Ahmad Al Khleifat,Alfredo Iacoangeli,Aleksey Shatunov,Ashley R Jones,Yael Elbaz-Alon,Yahel Cohen,Elik Chapnik,Daphna Rothschild,Omer Weissbrod,Gilad Beck,Elena Ainbinder,Shifra Ben-Dor,Sebastian Werneburg,Dorothy P Schafer,Robert H Brown,Pamela J Shaw,Philip Van Damme,Leonard H van den Berg,Hemali Phatnani,Eran Segal,Justin K Ichida,Ammar Al-Chalabi,Jan H Veldink,Project MinE ALS Sequencing Consortium,NYGC ALS Consortium,Eran Hornstein
    Source: Nature neuroscience
  • Imaging Net Retrograde Axonal Transport In Vivo: A Physiological Biomarker

    Friday, February 18, 2022
    Author(s): Pin-Tsun Justin Lee,Zachary Kennedy,Yuzhen Wang,Yimeng Lu,Carolina Cefaliello,Özgün Uyan,Chun-Qing Song,Bruno Miguel da Cruz Godinho,Zuoshang Xu,Mary Rusckowski,Wen Xue,Robert H Brown
    Source: Annals of neurology
  • AAV gene therapy for Tay-Sachs disease

    Friday, February 11, 2022
    Author(s): Terence R Flotte,Oguz Cataltepe,Ajit Puri,Ana Rita Batista,Richard Moser,Diane McKenna-Yasek,Catherine Douthwright,Gwladys Gernoux,Meghan Blackwood,Christian Mueller,Phillip W L Tai,Xuntian Jiang,Scot Bateman,Spiro G Spanakis,Julia Parzych,Allison M Keeler,Aly Abayazeed,Saurabh Rohatgi,Laura Gibson,Robert Finberg,Bruce A Barton,Zeynep Vardar,Mohammed Salman Shazeeb,Matthew Gounis,Cynthia J Tifft,Florian S Eichler,Robert H Brown,Douglas R Martin,Heather L Gray-Edwards,Miguel Sena-Esteves
    Source: Nature medicine
  • Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

    Tuesday, February 01, 2022
    Author(s): Wouter van Rheenen,Rick A A van der Spek,Mark K Bakker,Joke J F A van Vugt,Paul J Hop,Ramona A J Zwamborn,Niek de Klein,Harm-Jan Westra,Olivier B Bakker,Patrick Deelen,Gemma Shireby,Eilis Hannon,Matthieu Moisse,Denis Baird,Restuadi Restuadi,Egor Dolzhenko,Annelot M Dekker,Klara Gawor,Henk-Jan Westeneng,Gijs H P Tazelaar,Kristel R van Eijk,Maarten Kooyman,Ross P Byrne,Mark Doherty,Mark Heverin,Ahmad Al Khleifat,Alfredo Iacoangeli,Aleksey Shatunov,Nicola Ticozzi,Johnathan Cooper-Knock,Bradley N Smith,Marta Gromicho,Siddharthan Chandran,Suvankar Pal,Karen E Morrison,Pamela J Shaw,John Hardy,Richard W Orrell,Michael Sendtner,Thomas Meyer,Nazli Başak,Anneke J van der Kooi,Antonia Ratti,Isabella Fogh,Cinzia Gellera,Giuseppe Lauria,Stefania Corti,Cristina Cereda,Daisy Sproviero,Sandra D'Alfonso,Gianni Sorarù,Gabriele Siciliano,Massimiliano Filosto,Alessandro Padovani,Adriano Chiò,Andrea Calvo,Cristina Moglia,Maura Brunetti,Antonio Canosa,Maurizio Grassano,Ettore Beghi,Elisabetta Pupillo,Giancarlo Logroscino,Beatrice Nefussy,Alma Osmanovic,Angelica Nordin,Yossef Lerner,Michal Zabari,Marc Gotkine,Robert H Baloh,Shaughn Bell,Patrick Vourc'h,Philippe Corcia,Philippe Couratier,Stéphanie Millecamps,Vincent Meininger,François Salachas,Jesus S Mora Pardina,Abdelilah Assialioui,Ricardo Rojas-García,Patrick A Dion,Jay P Ross,Albert C Ludolph,Jochen H Weishaupt,David Brenner,Axel Freischmidt,Gilbert Bensimon,Alexis Brice,Alexandra Durr,Christine A M Payan,Safa Saker-Delye,Nicholas W Wood,Simon Topp,Rosa Rademakers,Lukas Tittmann,Wolfgang Lieb,Andre Franke,Stephan Ripke,Alice Braun,Julia Kraft,David C Whiteman,Catherine M Olsen,Andre G Uitterlinden,Albert Hofman,Marcella Rietschel,Sven Cichon,Markus M Nöthen,Philippe Amouyel,SLALOM Consortium,PARALS Consortium,SLAGEN Consortium,SLAP Consortium,Bryan J Traynor,Andrew B Singleton,Miguel Mitne Neto,Ruben J Cauchi,Roel A Ophoff,Martina Wiedau-Pazos,Catherine Lomen-Hoerth,Vivianna M van Deerlin,Julian Grosskreutz,Annekathrin Roediger,Nayana Gaur,Alexander Jörk,Tabea Barthel,Erik Theele,Benjamin Ilse,Beatrice Stubendorff,Otto W Witte,Robert Steinbach,Christian A Hübner,Caroline Graff,Lev Brylev,Vera Fominykh,Vera Demeshonok,Anastasia Ataulina,Boris Rogelj,Blaž Koritnik,Janez Zidar,Metka Ravnik-Glavač,Damjan Glavač,Zorica Stević,Vivian Drory,Monica Povedano,Ian P Blair,Matthew C Kiernan,Beben Benyamin,Robert D Henderson,Sarah Furlong,Susan Mathers,Pamela A McCombe,Merrilee Needham,Shyuan T Ngo,Garth A Nicholson,Roger Pamphlett,Dominic B Rowe,Frederik J Steyn,Kelly L Williams,Karen A Mather,Perminder S Sachdev,Anjali K Henders,Leanne Wallace,Mamede de Carvalho,Susana Pinto,Susanne Petri,Markus Weber,Guy A Rouleau,Vincenzo Silani,Charles J Curtis,Gerome Breen,Jonathan D Glass,Robert H Brown,John E Landers,Christopher E Shaw,Peter M Andersen,Ewout J N Groen,Michael A van Es,R Jeroen Pasterkamp,Dongsheng Fan,Fleur C Garton,Allan F McRae,George Davey Smith,Tom R Gaunt,Michael A Eberle,Jonathan Mill,Russell L McLaughlin,Orla Hardiman,Kevin P Kenna,Naomi R Wray,Ellen Tsai,Heiko Runz,Lude Franke,Ammar Al-Chalabi,Philip Van Damme,Leonard H van den Berg,Jan H Veldink
    Source: Nature genetics
  • Suppression of mutant C9orf72 expression by a potent mixed backbone antisense oligonucleotide

    Friday, December 24, 2021
    Author(s): Hélène Tran,Michael P Moazami,Huiya Yang,Diane McKenna-Yasek,Catherine L Douthwright,Courtney Pinto,Jake Metterville,Minwook Shin,Nitasha Sanil,Craig Dooley,Ajit Puri,Alexandra Weiss,Nicholas Wightman,Heather Gray-Edwards,Miklos Marosfoi,Robert M King,Thomas Kenderdine,Daniele Fabris,Robert Bowser,Jonathan K Watts,Robert H Brown
    Source: Nature medicine
  • Adaptive Platform Trials to Transform Amyotrophic Lateral Sclerosis Therapy Development

    Wednesday, December 22, 2021
    Author(s): Sabrina Paganoni,James D Berry,Melanie Quintana,Eric Macklin,Benjamin R Saville,Michelle A Detry,Marianne Chase,Alexander V Sherman,Hong Yu,Kristin Drake,Jinsy Andrews,Jeremy Shefner,Lori B Chibnik,Matteo Vestrucci,Merit E Cudkowicz,Healey ALS Platform Trial Study Group
    Source: Annals of neurology
  • A randomized placebo-controlled phase 3 study of mesenchymal stem cells induced to secrete high levels of neurotrophic factors in amyotrophic lateral sclerosis

    Friday, December 10, 2021
    Author(s): Merit E Cudkowicz,Stacy R Lindborg,Namita A Goyal,Robert G Miller,Matthew J Burford,James D Berry,Katharine A Nicholson,Tahseen Mozaffar,Jonathan S Katz,Liberty J Jenkins,Robert H Baloh,Richard A Lewis,Nathan P Staff,Margaret A Owegi,Donald A Berry,Yael Gothelf,Yossef S Levy,Revital Aricha,Ralph Z Kern,Anthony J Windebank,Robert H Brown
    Source: Muscle & nerve
  • Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

    Tuesday, December 07, 2021
    Author(s): Wouter van Rheenen,Rick A A van der Spek,Mark K Bakker,Joke J F A van Vugt,Paul J Hop,Ramona A J Zwamborn,Niek de Klein,Harm-Jan Westra,Olivier B Bakker,Patrick Deelen,Gemma Shireby,Eilis Hannon,Matthieu Moisse,Denis Baird,Restuadi Restuadi,Egor Dolzhenko,Annelot M Dekker,Klara Gawor,Henk-Jan Westeneng,Gijs H P Tazelaar,Kristel R van Eijk,Maarten Kooyman,Ross P Byrne,Mark Doherty,Mark Heverin,Ahmad Al Khleifat,Alfredo Iacoangeli,Aleksey Shatunov,Nicola Ticozzi,Johnathan Cooper-Knock,Bradley N Smith,Marta Gromicho,Siddharthan Chandran,Suvankar Pal,Karen E Morrison,Pamela J Shaw,John Hardy,Richard W Orrell,Michael Sendtner,Thomas Meyer,Nazli Başak,Anneke J van der Kooi,Antonia Ratti,Isabella Fogh,Cinzia Gellera,Giuseppe Lauria,Stefania Corti,Cristina Cereda,Daisy Sproviero,Sandra D'Alfonso,Gianni Sorarù,Gabriele Siciliano,Massimiliano Filosto,Alessandro Padovani,Adriano Chiò,Andrea Calvo,Cristina Moglia,Maura Brunetti,Antonio Canosa,Maurizio Grassano,Ettore Beghi,Elisabetta Pupillo,Giancarlo Logroscino,Beatrice Nefussy,Alma Osmanovic,Angelica Nordin,Yossef Lerner,Michal Zabari,Marc Gotkine,Robert H Baloh,Shaughn Bell,Patrick Vourc'h,Philippe Corcia,Philippe Couratier,Stéphanie Millecamps,Vincent Meininger,François Salachas,Jesus S Mora Pardina,Abdelilah Assialioui,Ricardo Rojas-García,Patrick A Dion,Jay P Ross,Albert C Ludolph,Jochen H Weishaupt,David Brenner,Axel Freischmidt,Gilbert Bensimon,Alexis Brice,Alexandra Durr,Christine A M Payan,Safa Saker-Delye,Nicholas W Wood,Simon Topp,Rosa Rademakers,Lukas Tittmann,Wolfgang Lieb,Andre Franke,Stephan Ripke,Alice Braun,Julia Kraft,David C Whiteman,Catherine M Olsen,Andre G Uitterlinden,Albert Hofman,Marcella Rietschel,Sven Cichon,Markus M Nöthen,Philippe Amouyel,SLALOM Consortium,PARALS Consortium,SLAGEN Consortium,SLAP Consortium,Bryan J Traynor,Andrew B Singleton,Miguel Mitne Neto,Ruben J Cauchi,Roel A Ophoff,Martina Wiedau-Pazos,Catherine Lomen-Hoerth,Vivianna M van Deerlin,Julian Grosskreutz,Annekathrin Roediger,Nayana Gaur,Alexander Jörk,Tabea Barthel,Erik Theele,Benjamin Ilse,Beatrice Stubendorff,Otto W Witte,Robert Steinbach,Christian A Hübner,Caroline Graff,Lev Brylev,Vera Fominykh,Vera Demeshonok,Anastasia Ataulina,Boris Rogelj,Blaž Koritnik,Janez Zidar,Metka Ravnik-Glavač,Damjan Glavač,Zorica Stević,Vivian Drory,Monica Povedano,Ian P Blair,Matthew C Kiernan,Beben Benyamin,Robert D Henderson,Sarah Furlong,Susan Mathers,Pamela A McCombe,Merrilee Needham,Shyuan T Ngo,Garth A Nicholson,Roger Pamphlett,Dominic B Rowe,Frederik J Steyn,Kelly L Williams,Karen A Mather,Perminder S Sachdev,Anjali K Henders,Leanne Wallace,Mamede de Carvalho,Susana Pinto,Susanne Petri,Markus Weber,Guy A Rouleau,Vincenzo Silani,Charles J Curtis,Gerome Breen,Jonathan D Glass,Robert H Brown,John E Landers,Christopher E Shaw,Peter M Andersen,Ewout J N Groen,Michael A van Es,R Jeroen Pasterkamp,Dongsheng Fan,Fleur C Garton,Allan F McRae,George Davey Smith,Tom R Gaunt,Michael A Eberle,Jonathan Mill,Russell L McLaughlin,Orla Hardiman,Kevin P Kenna,Naomi R Wray,Ellen Tsai,Heiko Runz,Lude Franke,Ammar Al-Chalabi,Philip Van Damme,Leonard H van den Berg,Jan H Veldink
    Source: Nature genetics
  • Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

    Monday, August 30, 2021
    Author(s): Janel O Johnson,Ruth Chia,Danny E Miller,Rachel Li,Ravindran Kumaran,Yevgeniya Abramzon,Nada Alahmady,Alan E Renton,Simon D Topp,J Raphael Gibbs,Mark R Cookson,Marya S Sabir,Clifton L Dalgard,Claire Troakes,Ashley R Jones,Aleksey Shatunov,Alfredo Iacoangeli,Ahmad Al Khleifat,Nicola Ticozzi,Vincenzo Silani,Cinzia Gellera,Ian P Blair,Carol Dobson-Stone,John B Kwok,Emily S Bonkowski,Robin Palvadeau,Pentti J Tienari,Karen E Morrison,Pamela J Shaw,Ammar Al-Chalabi,Robert H Brown,Andrea Calvo,Gabriele Mora,Hind Al-Saif,Marc Gotkine,Fawn Leigh,Irene J Chang,Seth J Perlman,Ian Glass,Anna I Scott,Christopher E Shaw,A Nazli Basak,John E Landers,Adriano Chiò,Thomas O Crawford,Bradley N Smith,Bryan J Traynor,FALS Sequencing Consortium; American Genome Center; International ALS Genomics Consortium; and ITALSGEN Consortium,Bradley N Smith,Nicola Ticozzi,Claudia Fallini,Athina Soragia Gkazi,Simon D Topp,Emma L Scotter,Kevin P Kenna,Pamela Keagle,Cinzia Tiloca,Caroline Vance,Claire Troakes,Claudia Colombrita,Andrew King,Viviana Pensato,Barbara Castellotti,Frank Baas,Anneloor L M A Ten Asbroek,Diane McKenna-Yasek,Russell L McLaughlin,Meraida Polak,Seneshaw Asress,Jesús Esteban-Pérez,Zorica Stevic,Sandra D'Alfonso,Letizia Mazzini,Giacomo P Comi,Roberto Del Bo,Mauro Ceroni,Stella Gagliardi,Giorgia Querin,Cinzia Bertolin,Wouter van Rheenen,Rosa Rademakers,Marka van Blitterswijk,Giuseppe Lauria,Stefano Duga,Stefania Corti,Cristina Cereda,Lucia Corrado,Gianni Sorarù,Kelly L Williams,Garth A Nicholson,Ian P Blair,Claire Leblond-Manry,Guy A Rouleau,Orla Hardiman,Karen E Morrison,Jan H Veldink,Leonard H van den Berg,Ammar Al-Chalabi,Hardev Pall,Pamela J Shaw,Martin R Turner,Kevin Talbot,Franco Taroni,Alberto García-Redondo,Zheyang Wu,Jonathan D Glass,Cinzia Gellera,Antonia Ratti,Robert H Brown,Vincenzo Silani,Christopher E Shaw,John E Landers,Clifton L Dalgard,Adelani Adeleye,Anthony R Soltis,Camille Alba,Coralie Viollet,Dagmar Bacikova,Daniel N Hupalo,Gauthaman Sukumar,Harvey B Pollard,Matthew D Wilkerson,Elisa McGrath Martinez,Yevgeniya Abramzon,Sarah Ahmed,Sampath Arepalli,Robert H Baloh,Robert Bowser,Christopher B Brady,Alexis Brice,James Broach,Roy H Campbell,William Camu,Ruth Chia,John Cooper-Knock,Jinhui Ding,Carsten Drepper,Vivian E Drory,Travis L Dunckley,John D Eicher,Bryce K England,Faraz Faghri,Eva Feldman,Mary Kay Floeter,Pietro Fratta,Joshua T Geiger,Glenn Gerhard,J Raphael Gibbs,Summer B Gibson,Jonathan D Glass,John Hardy,Matthew B Harms,Terry D Heiman-Patterson,Dena G Hernandez,Lilja Jansson,Janine Kirby,Neil W Kowall,Hannu Laaksovirta,Natalie Landeck,Francesco Landi,Isabelle Le Ber,Serge Lumbroso,Daniel J L MacGowan,Nicholas J Maragakis,Gabriele Mora,Kevin Mouzat,Natalie A Murphy,Liisa Myllykangas,Mike A Nalls,Richard W Orrell,Lyle W Ostrow,Roger Pamphlett,Stuart Pickering-Brown,Erik P Pioro,Olga Pletnikova,Hannah A Pliner,Stefan M Pulst,John M Ravits,Alan E Renton,Alberto Rivera,Wim Robberecht,Ekaterina Rogaeva,Sara Rollinson,Jeffrey D Rothstein,Sonja W Scholz,Michael Sendtner,Pamela J Shaw,Katie C Sidle,Zachary Simmons,Andrew B Singleton,Nathan Smith,David J Stone,Pentti J Tienari,Juan C Troncoso,Miko Valori,Philip Van Damme,Vivianna M Van Deerlin,Ludo Van Den Bosch,Lorne Zinman,John E Landers,Adriano Chiò,Bryan J Traynor,Stefania M Angelocola,Francesco P Ausiello,Marco Barberis,Ilaria Bartolomei,Stefania Battistini,Enrica Bersano,Giulia Bisogni,Giuseppe Borghero,Maura Brunetti,Corrado Cabona,Andrea Calvo,Fabrizio Canale,Antonio Canosa,Teresa A Cantisani,Margherita Capasso,Claudia Caponnetto,Patrizio Cardinali,Paola Carrera,Federico Casale,Adriano Chiò,Tiziana Colletti,Francesca L Conforti,Amelia Conte,Elisa Conti,Massimo Corbo,Stefania Cuccu,Eleonora Dalla Bella,Eustachio D'Errico,Giovanni DeMarco,Raffaele Dubbioso,Carlo Ferrarese,Pilar M Ferraro,Massimo Filippi,Nicola Fini,Gianluca Floris,Giuseppe Fuda,Salvatore Gallone,Giulia Gianferrari,Fabio Giannini,Maurizio Grassano,Lucia Greco,Barbara Iazzolino,Alessandro Introna,Vincenzo La Bella,Serena Lattante,Giuseppe Lauria,Rocco Liguori,Giancarlo Logroscino,Francesco O Logullo,Christian Lunetta,Paola Mandich,Jessica Mandrioli,Umberto Manera,Fiore Manganelli,Giuseppe Marangi,Kalliopi Marinou,Maria Giovanna Marrosu,Ilaria Martinelli,Sonia Messina,Cristina Moglia,Gabriele Mora,Lorena Mosca,Maria R Murru,Paola Origone,Carla Passaniti,Cristina Petrelli,Antonio Petrucci,Susanna Pozzi,Maura Pugliatti,Angelo Quattrini,Claudia Ricci,Giulia Riolo,Nilo Riva,Massimo Russo,Mario Sabatelli,Paolina Salamone,Marco Salivetto,Fabrizio Salvi,Marialuisa Santarelli,Luca Sbaiz,Riccardo Sideri,Isabella Simone,Cecilia Simonini,Rossella Spataro,Raffaella Tanel,Gioacchino Tedeschi,Anna Ticca,Antonella Torriello,Stefania Tranquilli,Lucio Tremolizzo,Francesca Trojsi,Rosario Vasta,Veria Vacchiano,Giuseppe Vita,Paolo Volanti,Marcella Zollino,Elisabetta Zucchi
    Source: JAMA neurology
  • BET bromodomain inhibitors PFI-1 and JQ1 are identified in an epigenetic compound screen to enhance C9ORF72 gene expression and shown to ameliorate C9ORF72-associated pathological and behavioral abnormalities in a C9ALS/FTD model

    Wednesday, March 17, 2021
    Author(s): Esteban Quezada,Claudio Cappelli,Iván Diaz,Nur Jury,Nicholas Wightman,Robert H Brown,Martín Montecino,Brigitte van Zundert
    Source: Clinical epigenetics
  • AAV-Mediated Gene Therapy for Glycosphingolipid Biosynthesis Deficiencies

    Sunday, March 14, 2021
    Author(s): Huiya Yang,Robert H Brown,Dan Wang,Kevin A Strauss,Guangping Gao
    Source: Trends in molecular medicine
  • Variant-selective stereopure oligonucleotides protect against pathologies associated with C9orf72-repeat expansion in preclinical models

    Tuesday, February 09, 2021
    Author(s): Yuanjing Liu,Jean-Cosme Dodart,Helene Tran,Shaunna Berkovitch,Maurine Braun,Michael Byrne,Ann F Durbin,Xiao Shelley Hu,Naoki Iwamoto,Hyun Gyung Jang,Pachamuthu Kandasamy,Fangjun Liu,Kenneth Longo,Jörg Ruschel,Juili Shelke,Hailin Yang,Yuan Yin,Amy Donner,Zhong Zhong,Chandra Vargeese,Robert H Brown
    Source: Nature communications
  • Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

    Thursday, November 26, 2020
    Author(s): Ramita Dewan,Ruth Chia,Jinhui Ding,Richard A Hickman,Thor D Stein,Yevgeniya Abramzon,Sarah Ahmed,Marya S Sabir,Makayla K Portley,Arianna Tucci,Kristina Ibáñez,F N U Shankaracharya,Pamela Keagle,Giacomina Rossi,Paola Caroppo,Fabrizio Tagliavini,Maria L Waldo,Per M Johansson,Christer F Nilsson,American Genome Center (TAGC),FALS Sequencing Consortium,Genomics England Research Consortium,International ALS/FTD Genomics Consortium (iAFGC),International FTD Genetics Consortium (IFGC),International LBD Genomics Consortium (iLBDGC),NYGC ALS Consortium,PROSPECT Consortium,James B Rowe,Luisa Benussi,Giuliano Binetti,Roberta Ghidoni,Edwin Jabbari,Coralie Viollet,Jonathan D Glass,Andrew B Singleton,Vincenzo Silani,Owen A Ross,Mina Ryten,Ali Torkamani,Toshiko Tanaka,Luigi Ferrucci,Susan M Resnick,Stuart Pickering-Brown,Christopher B Brady,Neil Kowal,John A Hardy,Vivianna Van Deerlin,Jean Paul Vonsattel,Matthew B Harms,Huw R Morris,Raffaele Ferrari,John E Landers,Adriano Chiò,J Raphael Gibbs,Clifton L Dalgard,Sonja W Scholz,Bryan J Traynor
    Source: Neuron
  • Amyotrophic Lateral Sclerosis: Fuel for the Corticofugal Feud

    Monday, August 03, 2020
    Author(s): Brian J Wainger,Robert H Brown
    Source: Annals of neurology
  • SOD1 Suppression with Adeno-Associated Virus and MicroRNA in Familial ALS

    Thursday, July 09, 2020
    Author(s): Christian Mueller,James D Berry,Diane M McKenna-Yasek,Gwladys Gernoux,Margaret A Owegi,Lindsay M Pothier,Catherine L Douthwright,Dario Gelevski,Sarah D Luppino,Meghan Blackwood,Nicholas S Wightman,Derek H Oakley,Matthew P Frosch,Terrence R Flotte,Merit E Cudkowicz,Robert H Brown
    Source: The New England journal of medicine
  • Longitudinal biomarkers in amyotrophic lateral sclerosis

    Wednesday, June 10, 2020
    Author(s): Fen Huang,Yuda Zhu,Jennifer Hsiao-Nakamoto,Xinyan Tang,Jason C Dugas,Miriam Moscovitch-Lopatin,Jonathan D Glass,Robert H Brown,Shafeeq S Ladha,David Lacomis,Jeffrey M Harris,Kimberly Scearce-Levie,Carole Ho,Robert Bowser,James D Berry
    Source: Annals of clinical and translational neurology
  • Intralingual and Intrapleural AAV Gene Therapy Prolongs Survival in a SOD1 ALS Mouse Model

    Friday, January 24, 2020
    Author(s): Allison M Keeler,Marina Zieger,Carson Semple,Logan Pucci,Alessandra Veinbachs,Robert H Brown,Christian Mueller,Mai K ElMallah
    Source: Molecular therapy. Methods & clinical development
  • Human genetics and neuropathology suggest a link between miR-218 and amyotrophic lateral sclerosis pathophysiology

    Friday, December 20, 2019
    Author(s): Irit Reichenstein,Chen Eitan,Sandra Diaz-Garcia,Guy Haim,Iddo Magen,Aviad Siany,Mariah L Hoye,Natali Rivkin,Tsviya Olender,Beata Toth,Revital Ravid,Amitai D Mandelbaum,Eran Yanowski,Jing Liang,Jeffrey K Rymer,Rivka Levy,Gilad Beck,Elena Ainbinder,Sali M K Farhan,Kimberly A Lennox,Nicole M Bode,Mark A Behlke,Thomas Möller,Smita Saxena,Cristiane A M Moreno,Giancarlo Costaguta,Kristel R van Eijk,Hemali Phatnani,Ammar Al-Chalabi,A Nazli Başak,Leonard H van den Berg,Orla Hardiman,John E Landers,Jesus S Mora,Karen E Morrison,Pamela J Shaw,Jan H Veldink,Samuel L Pfaff,Ofer Yizhar,Christina Gross,Robert H Brown,John M Ravits,Matthew B Harms,Timothy M Miller,Eran Hornstein
    Source: Science translational medicine
  • Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation

    Friday, April 26, 2019
    Author(s): Janice A Dominov,Özgün Uyan,Diane McKenna-Yasek,Babi Ramesh Reddy Nallamilli,Virginie Kergourlay,Marc Bartoli,Nicolas Levy,Judith Hudson,Teresinha Evangelista,Hanns Lochmuller,Martin Krahn,Laura Rufibach,Madhuri Hegde,Robert H Brown
    Source: Annals of clinical and translational neurology
  • A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS

    Thursday, April 04, 2019
    Author(s): Sahar Gelfman,Sarah Dugger,Cristiane de Araujo Martins Moreno,Zhong Ren,Charles J Wolock,Neil A Shneider,Hemali Phatnani,Elizabeth T Cirulli,Brittany N Lasseigne,Tim Harris,Tom Maniatis,Guy A Rouleau,Robert H Brown,Aaron D Gitler,Richard M Myers,Slavé Petrovski,Andrew Allen,David B Goldstein,Matthew B Harms
    Source: Genome research
  • Safe and effective superoxide dismutase 1 silencing using artificial microRNA in macaques

    Friday, November 02, 2018
    Author(s): Florie Borel,Gwladys Gernoux,Huaming Sun,Rachel Stock,Meghan Blackwood,Robert H Brown,Christian Mueller
    Source: Science translational medicine
  • Defective daily temperature regulation in a mouse model of amyotrophic lateral sclerosis

    Sunday, July 22, 2018
    Author(s): Maurine C Braun,Alexandra Castillo-Ruiz,Premananda Indic,Dae Young Jung,Jason K Kim,Robert H Brown,Steven J Swoap,William J Schwartz
    Source: Experimental neurology
  • Cortical Spreading Depression Denotes Concussion Injury

    Friday, July 13, 2018
    Author(s): James Bouley,David Y Chung,Cenk Ayata,Robert H Brown,Nils Henninger
    Source: Journal of neurotrauma
  • Publisher Correction: TDP-43 gains function due to perturbed autoregulation in a Tardbp knock-in mouse model of ALS-FTD

    Thursday, June 07, 2018
    Author(s): Matthew A White,Eosu Kim,Amanda Duffy,Robert Adalbert,Benjamin U Phillips,Owen M Peters,Jodie Stephenson,Sujeong Yang,Francesca Massenzio,Ziqiang Lin,Simon Andrews,Anne Segonds-Pichon,Jake Metterville,Lisa M Saksida,Richard Mead,Richard R Ribchester,Youssef Barhomi,Thomas Serre,Michael P Coleman,Justin R Fallon,Timothy J Bussey,Robert H Brown,Jemeen Sreedharan
    Source: Nature neuroscience
  • Finding a Treatment for ALS - Will Gene Editing Cut It?

    Thursday, April 12, 2018
    Author(s): Ammar Al-Chalabi,Robert H Brown
    Source: The New England journal of medicine
  • Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

    Saturday, March 24, 2018
    Author(s): Aude Nicolas,Kevin P Kenna,Alan E Renton,Nicola Ticozzi,Faraz Faghri,Ruth Chia,Janice A Dominov,Brendan J Kenna,Mike A Nalls,Pamela Keagle,Alberto M Rivera,Wouter van Rheenen,Natalie A Murphy,Joke J F A van Vugt,Joshua T Geiger,Rick A Van der Spek,Hannah A Pliner,None Shankaracharya,Bradley N Smith,Giuseppe Marangi,Simon D Topp,Yevgeniya Abramzon,Athina Soragia Gkazi,John D Eicher,Aoife Kenna,ITALSGEN Consortium,Gabriele Mora,Andrea Calvo,Letizia Mazzini,Nilo Riva,Jessica Mandrioli,Claudia Caponnetto,Stefania Battistini,Paolo Volanti,Vincenzo La Bella,Francesca L Conforti,Giuseppe Borghero,Sonia Messina,Isabella L Simone,Francesca Trojsi,Fabrizio Salvi,Francesco O Logullo,Sandra D'Alfonso,Lucia Corrado,Margherita Capasso,Luigi Ferrucci,Genomic Translation for ALS Care (GTAC) Consortium,Cristiane de Araujo Martins Moreno,Sitharthan Kamalakaran,David B Goldstein,ALS Sequencing Consortium,Aaron D Gitler,Tim Harris,Richard M Myers,NYGC ALS Consortium,Hemali Phatnani,Rajeeva Lochan Musunuri,Uday Shankar Evani,Avinash Abhyankar,Michael C Zody,Answer ALS Foundation,Julia Kaye,Steven Finkbeiner,Stacia K Wyman,Alex LeNail,Leandro Lima,Ernest Fraenkel,Clive N Svendsen,Leslie M Thompson,Jennifer E Van Eyk,James D Berry,Timothy M Miller,Stephen J Kolb,Merit Cudkowicz,Emily Baxi,Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium,Michael Benatar,J Paul Taylor,Evadnie Rampersaud,Gang Wu,Joanne Wuu,SLAGEN Consortium,Giuseppe Lauria,Federico Verde,Isabella Fogh,Cinzia Tiloca,Giacomo P Comi,Gianni Sorarù,Cristina Cereda,French ALS Consortium,Philippe Corcia,Hannu Laaksovirta,Liisa Myllykangas,Lilja Jansson,Miko Valori,John Ealing,Hisham Hamdalla,Sara Rollinson,Stuart Pickering-Brown,Richard W Orrell,Katie C Sidle,Andrea Malaspina,John Hardy,Andrew B Singleton,Janel O Johnson,Sampath Arepalli,Peter C Sapp,Diane McKenna-Yasek,Meraida Polak,Seneshaw Asress,Safa Al-Sarraj,Andrew King,Claire Troakes,Caroline Vance,Jacqueline de Belleroche,Frank Baas,Anneloor L M A Ten Asbroek,José Luis Muñoz-Blanco,Dena G Hernandez,Jinhui Ding,J Raphael Gibbs,Sonja W Scholz,Mary Kay Floeter,Roy H Campbell,Francesco Landi,Robert Bowser,Stefan M Pulst,John M Ravits,Daniel J L MacGowan,Janine Kirby,Erik P Pioro,Roger Pamphlett,James Broach,Glenn Gerhard,Travis L Dunckley,Christopher B Brady,Neil W Kowall,Juan C Troncoso,Isabelle Le Ber,Kevin Mouzat,Serge Lumbroso,Terry D Heiman-Patterson,Freya Kamel,Ludo Van Den Bosch,Robert H Baloh,Tim M Strom,Thomas Meitinger,Aleksey Shatunov,Kristel R Van Eijk,Mamede de Carvalho,Maarten Kooyman,Bas Middelkoop,Matthieu Moisse,Russell L McLaughlin,Michael A Van Es,Markus Weber,Kevin B Boylan,Marka Van Blitterswijk,Rosa Rademakers,Karen E Morrison,A Nazli Basak,Jesús S Mora,Vivian E Drory,Pamela J Shaw,Martin R Turner,Kevin Talbot,Orla Hardiman,Kelly L Williams,Jennifer A Fifita,Garth A Nicholson,Ian P Blair,Guy A Rouleau,Jesús Esteban-Pérez,Alberto García-Redondo,Ammar Al-Chalabi,Project MinE ALS Sequencing Consortium,Ekaterina Rogaeva,Lorne Zinman,Lyle W Ostrow,Nicholas J Maragakis,Jeffrey D Rothstein,Zachary Simmons,Johnathan Cooper-Knock,Alexis Brice,Stephen A Goutman,Eva L Feldman,Summer B Gibson,Franco Taroni,Antonia Ratti,Cinzia Gellera,Philip Van Damme,Wim Robberecht,Pietro Fratta,Mario Sabatelli,Christian Lunetta,Albert C Ludolph,Peter M Andersen,Jochen H Weishaupt,William Camu,John Q Trojanowski,Vivianna M Van Deerlin,Robert H Brown,Leonard H van den Berg,Jan H Veldink,Matthew B Harms,Jonathan D Glass,David J Stone,Pentti Tienari,Vincenzo Silani,Adriano Chiò,Christopher E Shaw,Bryan J Traynor,John E Landers
    Source: Neuron
  • TDP-43 gains function due to perturbed autoregulation in a Tardbp knock-in mouse model of ALS-FTD

    Wednesday, March 21, 2018
    Author(s): Matthew A White,Eosu Kim,Amanda Duffy,Robert Adalbert,Benjamin U Phillips,Owen M Peters,Jodie Stephenson,Sujeong Yang,Francesca Massenzio,Ziqiang Lin,Simon Andrews,Anne Segonds-Pichon,Jake Metterville,Lisa M Saksida,Richard Mead,Richard R Ribchester,Youssef Barhomi,Thomas Serre,Michael P Coleman,Justin R Fallon,Timothy J Bussey,Robert H Brown,Jemeen Sreedharan
    Source: Nature neuroscience
  • Amyotrophic Lateral Sclerosis

    Thursday, October 19, 2017
    Author(s): Robert H Brown,Ammar Al-Chalabi
    Source: The New England journal of medicine
  • A C9ORF72 BAC mouse model recapitulates key epigenetic perturbations of ALS/FTD

    Wednesday, June 14, 2017
    Author(s): Rustam Esanov,Gabriela Toro Cabrera,Nadja S Andrade,Tania F Gendron,Robert H Brown,Michael Benatar,Claes Wahlestedt,Christian Mueller,Zane Zeier
    Source: Molecular neurodegeneration
  • Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

    Friday, May 05, 2017
    Author(s): Bradley N Smith,Simon D Topp,Claudia Fallini,Hideki Shibata,Han-Jou Chen,Claire Troakes,Andrew King,Nicola Ticozzi,Kevin P Kenna,Athina Soragia-Gkazi,Jack W Miller,Akane Sato,Diana Marques Dias,Maryangel Jeon,Caroline Vance,Chun Hao Wong,Martina de Majo,Wejdan Kattuah,Jacqueline C Mitchell,Emma L Scotter,Nicholas W Parkin,Peter C Sapp,Matthew Nolan,Peter J Nestor,Michael Simpson,Michael Weale,Monkel Lek,Frank Baas,J M Vianney de Jong,Anneloor L M A Ten Asbroek,Alberto Garcia Redondo,Jesús Esteban-Pérez,Cinzia Tiloca,Federico Verde,Stefano Duga,Nigel Leigh,Hardev Pall,Karen E Morrison,Ammar Al-Chalabi,Pamela J Shaw,Janine Kirby,Martin R Turner,Kevin Talbot,Orla Hardiman,Jonathan D Glass,Jacqueline De Belleroche,Masatoshi Maki,Stephen E Moss,Christopher Miller,Cinzia Gellera,Antonia Ratti,Safa Al-Sarraj,Robert H Brown,Vincenzo Silani,John E Landers,Christopher E Shaw
    Source: Science translational medicine
  • Genetics of Amyotrophic Lateral Sclerosis

    Thursday, March 09, 2017
    Author(s): Mehdi Ghasemi,Robert H Brown
    Source: Cold Spring Harbor perspectives in medicine
  • David A. Drachman, MD (1932-2016)

    Wednesday, March 08, 2017
    Author(s): Robert H Brown,William J Schwartz
    Source: Neurology
  • Restrictive Lung Disease in the Cu/Zn Superoxide-Dismutase 1 G93A Amyotrophic Lateral Sclerosis Mouse Model

    Thursday, March 02, 2017
    Author(s): Lorelei Stoica,Allison M Keeler,Lang Xiong,Michael Kalfopoulos,Kaitlyn Desrochers,Robert H Brown,Miguel Sena-Esteves,Terence R Flotte,Mai K ElMallah
    Source: American journal of respiratory cell and molecular biology
  • Mutant Profilin1 transgenic mice recapitulate cardinal features of motor neuron disease

    Monday, January 02, 2017
    Author(s): Daniel Fil,Abigail DeLoach,Shilpi Yadav,Duah Alkam,Melanie MacNicol,Awantika Singh,Cesar M Compadre,Joseph J Goellner,Charles A O'Brien,Tariq Fahmi,Alexei G Basnakian,Noel Y Calingasan,Jodi L Klessner,Flint M Beal,Owen M Peters,Jake Metterville,Robert H Brown,Karen K Y Ling,Frank Rigo,P Hande Ozdinler,Mahmoud Kiaei
    Source: Human molecular genetics
  • Decoding ALS: from genes to mechanism

    Friday, November 11, 2016
    Author(s): J Paul Taylor,Robert H Brown,Don W Cleveland
    Source: Nature
  • Mutant PFN1 causes ALS phenotypes and progressive motor neuron degeneration in mice by a gain of toxicity

    Friday, September 30, 2016
    Author(s): Chunxing Yang,Eric W Danielson,Tao Qiao,Jake Metterville,Robert H Brown,John E Landers,Zuoshang Xu
    Source: Proceedings of the National Academy of Sciences of the United States of America
  • Silencing strategies for therapy of SOD1-mediated ALS

    Thursday, August 11, 2016
    Author(s): Brigitte van Zundert,Robert H Brown
    Source: Neuroscience letters
  • NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

    Tuesday, July 26, 2016
    Author(s): Kevin P Kenna,Perry T C van Doormaal,Annelot M Dekker,Nicola Ticozzi,Brendan J Kenna,Frank P Diekstra,Wouter van Rheenen,Kristel R van Eijk,Ashley R Jones,Pamela Keagle,Aleksey Shatunov,William Sproviero,Bradley N Smith,Michael A van Es,Simon D Topp,Aoife Kenna,Jack W Miller,Claudia Fallini,Cinzia Tiloca,Russell L McLaughlin,Caroline Vance,Claire Troakes,Claudia Colombrita,Gabriele Mora,Andrea Calvo,Federico Verde,Safa Al-Sarraj,Andrew King,Daniela Calini,Jacqueline de Belleroche,Frank Baas,Anneke J van der Kooi,Marianne de Visser,Anneloor L M A Ten Asbroek,Peter C Sapp,Diane McKenna-Yasek,Meraida Polak,Seneshaw Asress,José Luis Muñoz-Blanco,Tim M Strom,Thomas Meitinger,Karen E Morrison,SLAGEN Consortium,Giuseppe Lauria,Kelly L Williams,P Nigel Leigh,Garth A Nicholson,Ian P Blair,Claire S Leblond,Patrick A Dion,Guy A Rouleau,Hardev Pall,Pamela J Shaw,Martin R Turner,Kevin Talbot,Franco Taroni,Kevin B Boylan,Marka Van Blitterswijk,Rosa Rademakers,Jesús Esteban-Pérez,Alberto García-Redondo,Phillip Van Damme,Wim Robberecht,Adriano Chio,Cinzia Gellera,Carsten Drepper,Michael Sendtner,Antonia Ratti,Jonathan D Glass,Jesús S Mora,Nazli A Basak,Orla Hardiman,Albert C Ludolph,Peter M Andersen,Jochen H Weishaupt,Robert H Brown,Ammar Al-Chalabi,Vincenzo Silani,Christopher E Shaw,Leonard H van den Berg,Jan H Veldink,John E Landers
    Source: Nature genetics
  • Erratum to: Mutant SOD1 protein increases Nav1.3 channel excitability

    Thursday, June 09, 2016
    Author(s): Elif Kubat Öktem,Karen Mruk,Joshua Chang,Ata Akin,William R Kobertz,Robert H Brown
    Source: Journal of biological physics
  • CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

    Saturday, April 16, 2016
    Author(s): Kelly L Williams,Simon Topp,Shu Yang,Bradley Smith,Jennifer A Fifita,Sadaf T Warraich,Katharine Y Zhang,Natalie Farrawell,Caroline Vance,Xun Hu,Alessandra Chesi,Claire S Leblond,Albert Lee,Stephanie L Rayner,Vinod Sundaramoorthy,Carol Dobson-Stone,Mark P Molloy,Marka van Blitterswijk,Dennis W Dickson,Ronald C Petersen,Neill R Graff-Radford,Bradley F Boeve,Melissa E Murray,Cyril Pottier,Emily Don,Claire Winnick,Emily P McCann,Alison Hogan,Hussein Daoud,Annie Levert,Patrick A Dion,Jun Mitsui,Hiroyuki Ishiura,Yuji Takahashi,Jun Goto,Jason Kost,Cinzia Gellera,Athina Soragia Gkazi,Jack Miller,Joanne Stockton,William S Brooks,Karyn Boundy,Meraida Polak,José Luis Muñoz-Blanco,Jesús Esteban-Pérez,Alberto Rábano,Orla Hardiman,Karen E Morrison,Nicola Ticozzi,Vincenzo Silani,Jacqueline de Belleroche,Jonathan D Glass,John B J Kwok,Gilles J Guillemin,Roger S Chung,Shoji Tsuji,Robert H Brown,Alberto García-Redondo,Rosa Rademakers,John E Landers,Aaron D Gitler,Guy A Rouleau,Nicholas J Cole,Justin J Yerbury,Julie D Atkin,Christopher E Shaw,Garth A Nicholson,Ian P Blair
    Source: Nature communications
  • Mutant SOD1 protein increases Nav1.3 channel excitability

    Thursday, April 14, 2016
    Author(s): Elif Kubat Öktem,Karen Mruk,Joshua Chang,Ata Akin,William R Kobertz,Robert H Brown
    Source: Journal of biological physics
  • Attenuated traumatic axonal injury and improved functional outcome after traumatic brain injury in mice lacking Sarm1

    Friday, February 26, 2016
    Author(s): Nils Henninger,James Bouley,Elif M Sikoglu,Jiyan An,Constance M Moore,Jean A King,Robert Bowser,Marc R Freeman,Robert H Brown
    Source: Brain : a journal of neurology
  • A randomized trial of mexiletine in ALS: Safety and effects on muscle cramps and progression

    Friday, February 26, 2016
    Author(s): Michael D Weiss,Eric A Macklin,Zachary Simmons,Angela S Knox,David J Greenblatt,Nazem Atassi,Michael Graves,Nicholas Parziale,Johnny S Salameh,Colin Quinn,Robert H Brown,Jane B Distad,Jaya Trivedi,Jeremy M Shefner,Richard J Barohn,Alan Pestronk,Andrea Swenson,Merit E Cudkowicz,Mexiletine ALS Study Group
    Source: Neurology
  • Adeno-associated virus-delivered artificial microRNA extends survival and delays paralysis in an amyotrophic lateral sclerosis mouse model

    Friday, February 19, 2016
    Author(s): Lorelei Stoica,Sophia H Todeasa,Gabriela Toro Cabrera,Johnny S Salameh,Mai K ElMallah,Christian Mueller,Robert H Brown,Miguel Sena-Esteves
    Source: Annals of neurology
  • Therapeutic rAAVrh10 Mediated SOD1 Silencing in Adult SOD1(G93A) Mice and Nonhuman Primates

    Wednesday, December 30, 2015
    Author(s): Florie Borel,Gwladys Gernoux,Brynn Cardozo,Jake P Metterville,Gabriela C Toro Cabrera,Lina Song,Qin Su,Guang Ping Gao,Mai K Elmallah,Robert H Brown,Christian Mueller
    Source: Human gene therapy
  • Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice

    Sunday, December 06, 2015
    Author(s): Owen M Peters,Gabriela Toro Cabrera,Helene Tran,Tania F Gendron,Jeanne E McKeon,Jake Metterville,Alexandra Weiss,Nicholas Wightman,Johnny Salameh,Juyhun Kim,Huaming Sun,Kevin B Boylan,Dennis Dickson,Zack Kennedy,Ziqiang Lin,Yong-Jie Zhang,Lillian Daughrity,Chris Jung,Fen-Biao Gao,Peter C Sapp,H Robert Horvitz,Daryl A Bosco,Solange P Brown,Pieter de Jong,Leonard Petrucelli,Chris Mueller,Robert H Brown
    Source: Neuron
  • Amyotrophic Lateral Sclerosis: Review

    Wednesday, October 28, 2015
    Author(s): Johnny S Salameh,Robert H Brown,James D Berry
    Source: Seminars in neurology
  • Endogenous retroviruses in ALS: A reawakening?

    Friday, October 02, 2015
    Author(s): Robert H Brown,Ammar Al-Chalabi
    Source: Science translational medicine
  • Reply to comment on: A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides

    Friday, August 21, 2015
    Author(s): Janice A Dominov,Özgün Uyan,Peter C Sapp,Diane McKenna-Yasek,Babi Ramesh Reddy Nallamilli,Madhuri Hegde,Robert H Brown
    Source: Annals of clinical and translational neurology
  • Age-Dependent TDP-43-Mediated Motor Neuron Degeneration Requires GSK3, hat-trick, and xmas-2

    Tuesday, August 04, 2015
    Author(s): Jemeen Sreedharan,Lukas J Neukomm,Robert H Brown,Marc R Freeman
    Source: Current biology : CB
  • Emerging mechanisms of molecular pathology in ALS

    Tuesday, June 02, 2015
    Author(s): Owen M Peters,Mehdi Ghasemi,Robert H Brown
    Source: The Journal of clinical investigation
  • Emerging mechanisms of molecular pathology in ALS

    Saturday, May 02, 2015
    Author(s): Owen M Peters,Mehdi Ghasemi,Robert H Brown
    Source: The Journal of clinical investigation
  • International engagement by United States academic neurology departments: A national survey

    Friday, January 23, 2015
    Author(s): Michael P H Stanley,Joseph Berger,Shri Misra,Ildefonso Rodriguez,Victoria Elliott,Robert H Brown,Farrah J Mateen
    Source: Annals of neurology
  • Novel mutations support a role for Profilin 1 in the pathogenesis of ALS

    Tuesday, December 16, 2014
    Author(s): Bradley N Smith,Caroline Vance,Emma L Scotter,Claire Troakes,Chun Hao Wong,Simon Topp,Satomi Maekawa,Andrew King,Jacqueline C Mitchell,Karan Lund,Ammar Al-Chalabi,Nicola Ticozzi,Vincenzo Silani,Peter Sapp,Robert H Brown,John E Landers,Safa Al-Sarraj,Christopher E Shaw
    Source: Neurobiology of aging
  • A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides

    Thursday, December 11, 2014
    Author(s): Janice A Dominov,Ozgün Uyan,Peter C Sapp,Diane McKenna-Yasek,Babi R R Nallamilli,Madhuri Hegde,Robert H Brown
    Source: Annals of clinical and translational neurology
  • Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS

    Friday, November 07, 2014
    Author(s): Bradley N Smith,Nicola Ticozzi,Claudia Fallini,Athina Soragia Gkazi,Simon Topp,Kevin P Kenna,Emma L Scotter,Jason Kost,Pamela Keagle,Jack W Miller,Daniela Calini,Caroline Vance,Eric W Danielson,Claire Troakes,Cinzia Tiloca,Safa Al-Sarraj,Elizabeth A Lewis,Andrew King,Claudia Colombrita,Viviana Pensato,Barbara Castellotti,Jacqueline de Belleroche,Frank Baas,Anneloor L M A ten Asbroek,Peter C Sapp,Diane McKenna-Yasek,Russell L McLaughlin,Meraida Polak,Seneshaw Asress,Jesús Esteban-Pérez,José Luis Muñoz-Blanco,Michael Simpson,SLAGEN Consortium,Wouter van Rheenen,Frank P Diekstra,Giuseppe Lauria,Stefano Duga,Stefania Corti,Cristina Cereda,Lucia Corrado,Gianni Sorarù,Karen E Morrison,Kelly L Williams,Garth A Nicholson,Ian P Blair,Patrick A Dion,Claire S Leblond,Guy A Rouleau,Orla Hardiman,Jan H Veldink,Leonard H van den Berg,Ammar Al-Chalabi,Hardev Pall,Pamela J Shaw,Martin R Turner,Kevin Talbot,Franco Taroni,Alberto García-Redondo,Zheyang Wu,Jonathan D Glass,Cinzia Gellera,Antonia Ratti,Robert H Brown,Vincenzo Silani,Christopher E Shaw,John E Landers
    Source: Neuron
  • Natural history and biomarkers in hereditary sensory neuropathy type 1

    Tuesday, July 22, 2014
    Author(s): Vera Fridman,Anne Louise Oaklander,William S David,Elise A Johnson,Jessica Pan,Peter Novak,Robert H Brown,Florian S Eichler
    Source: Muscle & nerve
  • C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis

    Tuesday, June 17, 2014
    Author(s): Frank P Diekstra,Vivianna M Van Deerlin,John C van Swieten,Ammar Al-Chalabi,Albert C Ludolph,Jochen H Weishaupt,Orla Hardiman,John E Landers,Robert H Brown,Michael A van Es,R Jeroen Pasterkamp,Max Koppers,Peter M Andersen,Karol Estrada,Fernando Rivadeneira,Albert Hofman,André G Uitterlinden,Philip van Damme,Judith Melki,Vincent Meininger,Aleksey Shatunov,Christopher E Shaw,P Nigel Leigh,Pamela J Shaw,Karen E Morrison,Isabella Fogh,Adriano Chiò,Bryan J Traynor,David Czell,Markus Weber,Peter Heutink,Paul I W de Bakker,Vincenzo Silani,Wim Robberecht,Leonard H van den Berg,Jan H Veldink
    Source: Annals of neurology
  • Intrinsic membrane hyperexcitability of amyotrophic lateral sclerosis patient-derived motor neurons

    Tuesday, April 08, 2014
    Author(s): Brian J Wainger,Evangelos Kiskinis,Cassidy Mellin,Ole Wiskow,Steve S W Han,Jackson Sandoe,Numa P Perez,Luis A Williams,Seungkyu Lee,Gabriella Boulting,James D Berry,Robert H Brown,Merit E Cudkowicz,Bruce P Bean,Kevin Eggan,Clifford J Woolf
    Source: Cell reports
  • Partial loss of TDP-43 function causes phenotypes of amyotrophic lateral sclerosis

    Wednesday, March 12, 2014
    Author(s): Chunxing Yang,Hongyan Wang,Tao Qiao,Bin Yang,Leonardo Aliaga,Linghua Qiu,Weijia Tan,Johnny Salameh,Diane M McKenna-Yasek,Thomas Smith,Lingtao Peng,Melissa J Moore,Robert H Brown,Huaibin Cai,Zuoshang Xu
    Source: Proceedings of the National Academy of Sciences of the United States of America
  • ATF3 expression improves motor function in the ALS mouse model by promoting motor neuron survival and retaining muscle innervation

    Thursday, January 30, 2014
    Author(s): Rhona Seijffers,Jiangwen Zhang,Jonathan C Matthews,Adam Chen,Eric Tamrazian,Olusegun Babaniyi,Martin Selig,Meri Hynynen,Clifford J Woolf,Robert H Brown
    Source: Proceedings of the National Academy of Sciences of the United States of America
  • No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis

    Saturday, November 16, 2013
    Author(s): An Goris,Jessica van Setten,Frank Diekstra,Stephan Ripke,Nikolaos A Patsopoulos,Stephen J Sawcer,International Multiple Sclerosis Genetics Consortium,Michael van Es,Australia and New Zealand MS Genetics Consortium,Peter M Andersen,Judith Melki,Vincent Meininger,Orla Hardiman,John E Landers,Robert H Brown,Aleksey Shatunov,Nigel Leigh,Ammar Al-Chalabi,Christopher E Shaw,Bryan J Traynor,Adriano Chiò,Gabriella Restagno,Gabriele Mora,Roel A Ophoff,Jorge R Oksenberg,Philip Van Damme,Alastair Compston,Wim Robberecht,Bénédicte Dubois,Leonard H van den Berg,Philip L De Jager,Jan H Veldink,Paul I W de Bakker
    Source: Human molecular genetics
  • ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19

    Tuesday, October 15, 2013
    Author(s): Yuji Takahashi,Yoko Fukuda,Jun Yoshimura,Atsushi Toyoda,Kari Kurppa,Hiroyoko Moritoyo,Veronique V Belzil,Patrick A Dion,Koichiro Higasa,Koichiro Doi,Hiroyuki Ishiura,Jun Mitsui,Hidetoshi Date,Budrul Ahsan,Takashi Matsukawa,Yaeko Ichikawa,Takashi Moritoyo,Mayumi Ikoma,Tsukasa Hashimoto,Fumiharu Kimura,Shigeo Murayama,Osamu Onodera,Masatoyo Nishizawa,Mari Yoshida,Naoki Atsuta,Gen Sobue,JaCALS,Jennifer A Fifita,Kelly L Williams,Ian P Blair,Garth A Nicholson,Paloma Gonzalez-Perez,Robert H Brown,Masahiro Nomoto,Klaus Elenius,Guy A Rouleau,Asao Fujiyama,Shinichi Morishita,Jun Goto,Shoji Tsuji
    Source: American journal of human genetics
  • Introduction to a special edition of Annals: Therapeutic prospects

    Saturday, October 12, 2013
    Author(s): Robert H Brown,Stephen L Hauser
    Source: Annals of neurology
  • Widespread spinal cord transduction by intrathecal injection of rAAV delivers efficacious RNAi therapy for amyotrophic lateral sclerosis

    Friday, October 11, 2013
    Author(s): Hongyan Wang,Bin Yang,Linghua Qiu,Chunxing Yang,Joshua Kramer,Qin Su,Yansu Guo,Robert H Brown,Guangping Gao,Zuoshang Xu
    Source: Human molecular genetics
  • Amyotrophic lateral sclerosis: Problems and prospects

    Tuesday, September 17, 2013
    Author(s): Jemeen Sreedharan,Robert H Brown
    Source: Annals of neurology
  • Genetic ablation of phospholipase C delta 1 increases survival in SOD1(G93A) mice

    Saturday, August 24, 2013
    Author(s): Kim A Staats,Lawrence Van Helleputte,Ashley R Jones,André Bento-Abreu,Annelies Van Hoecke,Aleksey Shatunov,Claire L Simpson,Robin Lemmens,Tom Jaspers,Kiyoko Fukami,Yoshikazu Nakamura,Robert H Brown,Philip Van Damme,Adrian Liston,Wim Robberecht,Ammar Al-Chalabi,Ludo Van Den Bosch
    Source: Neurobiology of disease
  • Post-translational modification by cysteine protects Cu/Zn-superoxide dismutase from oxidative damage

    Saturday, August 10, 2013
    Author(s): Jared R Auclair,Joshua L Johnson,Qian Liu,Joseph P Salisbury,Melissa S Rotunno,Gregory A Petsko,Dagmar Ringe,Robert H Brown,Daryl A Bosco,Jeffrey N Agar
    Source: Biochemistry
  • Inhibition of fast axonal transport by pathogenic SOD1 involves activation of p38 MAP kinase

    Wednesday, June 19, 2013
    Author(s): Gerardo A Morfini,Daryl A Bosco,Hannah Brown,Rodolfo Gatto,Agnieszka Kaminska,Yuyu Song,Linda Molla,Lisa Baker,M Natalia Marangoni,Sarah Berth,Ehsan Tavassoli,Carolina Bagnato,Ashutosh Tiwari,Lawrence J Hayward,Gustavo F Pigino,D Martin Watterson,Chun-Fang Huang,Gary Banker,Robert H Brown,Scott T Brady
    Source: PloS one
  • Mitochondrial damage revealed by immunoselection for ALS-linked misfolded SOD1

    Thursday, June 06, 2013
    Author(s): Sarah Pickles,Laurie Destroismaisons,Sarah L Peyrard,Sarah Cadot,Guy A Rouleau,Robert H Brown,Jean-Pierre Julien,Nathalie Arbour,Christine Vande Velde
    Source: Human molecular genetics
  • Mutant SOD1-expressing astrocytes release toxic factors that trigger motoneuron death by inducing hyperexcitability

    Friday, March 15, 2013
    Author(s): Elsa Fritz,Pamela Izaurieta,Alexandra Weiss,Franco R Mir,Patricio Rojas,David Gonzalez,Fabiola Rojas,Robert H Brown,Rodolfo Madrid,Brigitte van Zundert
    Source: Journal of neurophysiology
  • Multimodal actions of neural stem cells in a mouse model of ALS: a meta-analysis

    Friday, December 21, 2012
    Author(s): Yang D Teng,Susanna C Benn,Steven N Kalkanis,Jeremy M Shefner,Renna C Onario,Bin Cheng,Mahesh B Lachyankar,Michael Marconi,Jianxue Li,Dou Yu,Inbo Han,Nicholas J Maragakis,Jeronia Lládo,Kadir Erkmen,D Eugene Redmond,Richard L Sidman,Serge Przedborski,Jeffrey D Rothstein,Robert H Brown,Evan Y Snyder
    Source: Science translational medicine
  • Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis

    Friday, November 16, 2012
    Author(s): Paloma González-Pérez,Elizabeth T Cirulli,Vivian E Drory,Ron Dabby,Puiu Nisipeanu,Ralph L Carasso,Menachem Sadeh,Andrew Fox,Barry W Festoff,Peter C Sapp,Diane McKenna-Yasek,David B Goldstein,Robert H Brown,Sergiu C Blumen
    Source: Neurology
  • Ribonuclease 4 protects neuron degeneration by promoting angiogenesis, neurogenesis, and neuronal survival under stress

    Tuesday, November 13, 2012
    Author(s): Shuping Li,Jinghao Sheng,Jamie K Hu,Wenhao Yu,Hiroko Kishikawa,Miaofen G Hu,Kaori Shima,David Wu,Zhengping Xu,Winnie Xin,Katherine B Sims,John E Landers,Robert H Brown,Guo-fu Hu
    Source: Angiogenesis
  • EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans

    Tuesday, August 28, 2012
    Author(s): Annelies Van Hoecke,Lies Schoonaert,Robin Lemmens,Mieke Timmers,Kim A Staats,Angela S Laird,Elke Peeters,Thomas Philips,An Goris,Bénédicte Dubois,Peter M Andersen,Ammar Al-Chalabi,Vincent Thijs,Ann M Turnley,Paul W van Vught,Jan H Veldink,Orla Hardiman,Ludo Van Den Bosch,Paloma Gonzalez-Perez,Philip Van Damme,Robert H Brown,Leonard H van den Berg,Wim Robberecht
    Source: Nature medicine
  • Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

    Wednesday, July 18, 2012
    Author(s): Chi-Hong Wu,Claudia Fallini,Nicola Ticozzi,Pamela J Keagle,Peter C Sapp,Katarzyna Piotrowska,Patrick Lowe,Max Koppers,Diane McKenna-Yasek,Desiree M Baron,Jason E Kost,Paloma Gonzalez-Perez,Andrew D Fox,Jenni Adams,Franco Taroni,Cinzia Tiloca,Ashley Lyn Leclerc,Shawn C Chafe,Dev Mangroo,Melissa J Moore,Jill A Zitzewitz,Zuo-Shang Xu,Leonard H van den Berg,Jonathan D Glass,Gabriele Siciliano,Elizabeth T Cirulli,David B Goldstein,Francois Salachas,Vincent Meininger,Wilfried Rossoll,Antonia Ratti,Cinzia Gellera,Daryl A Bosco,Gary J Bassell,Vincenzo Silani,Vivian E Drory,Robert H Brown,John E Landers
    Source: Nature
  • Association of UBQLN1 mutation with Brown-Vialetto-Van Laere syndrome but not typical ALS

    Saturday, July 07, 2012
    Author(s): Paloma González-Pérez,Yubing Lu,Ru-Ju Chian,Peter C Sapp,Rudolph E Tanzi,Lars Bertram,Diane McKenna-Yasek,Fen-Biao Gao,Robert H Brown
    Source: Neurobiology of disease
  • Homologous recombination mediates functional recovery of dysferlin deficiency following AAV5 gene transfer

    Friday, June 22, 2012
    Author(s): William E Grose,K Reed Clark,Danielle Griffin,Vinod Malik,Kimberly M Shontz,Chrystal L Montgomery,Sarah Lewis,Robert H Brown,Paul M L Janssen,Jerry R Mendell,Louise R Rodino-Klapac
    Source: PloS one
  • The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder

    Thursday, June 14, 2012
    Author(s): Bradley N Smith,Stephen Newhouse,Aleksey Shatunov,Caroline Vance,Simon Topp,Lauren Johnson,Jack Miller,Younbok Lee,Claire Troakes,Kirsten M Scott,Ashley Jones,Ian Gray,Jamie Wright,Tibor Hortobágyi,Safa Al-Sarraj,Boris Rogelj,John Powell,Michelle Lupton,Simon Lovestone,Peter C Sapp,Markus Weber,Peter J Nestor,Helenius J Schelhaas,Anneloor Alm Ten Asbroek,Vincenzo Silani,Cinzia Gellera,Franco Taroni,Nicola Ticozzi,Leonard Van den Berg,Jan Veldink,Phillip Van Damme,Wim Robberecht,Pamela J Shaw,Janine Kirby,Hardev Pall,Karen E Morrison,Alex Morris,Jacqueline de Belleroche,J M B Vianney de Jong,Frank Baas,Peter M Andersen,John Landers,Robert H Brown,Michael E Weale,Ammar Al-Chalabi,Christopher E Shaw
    Source: European journal of human genetics : EJHG
  • dSarm/Sarm1 is required for activation of an injury-induced axon death pathway

    Saturday, June 09, 2012
    Author(s): Jeannette M Osterloh,Jing Yang,Timothy M Rooney,A Nicole Fox,Robert Adalbert,Eric H Powell,Amy E Sheehan,Michelle A Avery,Rachel Hackett,Mary A Logan,Jennifer M MacDonald,Jennifer S Ziegenfuss,Stefan Milde,Ying-Ju Hou,Carl Nathan,Aihao Ding,Robert H Brown,Laura Conforti,Michael Coleman,Marc Tessier-Lavigne,Stephan Züchner,Marc R Freeman
    Source: Science (New York, N.Y.)
  • A high-throughput screen to identify inhibitors of SOD1 transcription

    Saturday, June 02, 2012
    Author(s): Paul D Wright,Nicholas Wightman,Mickey Huang,Alexandra Weiss,Peter C Sapp,Gregory D Cuny,Adrian J Ivinson,Marcie A Glicksman,Robert J Ferrante,Wayne Matson,Samantha Matson,Robert H Brown
    Source: Frontiers in bioscience (Elite edition)
  • Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS

    Wednesday, April 18, 2012
    Author(s): Frank P Diekstra,Christiaan G J Saris,Wouter van Rheenen,Lude Franke,Ritsert C Jansen,Michael A van Es,Paul W J van Vught,Hylke M Blauw,Ewout J N Groen,Steve Horvath,Karol Estrada,Fernando Rivadeneira,Albert Hofman,Andre G Uitterlinden,Wim Robberecht,Peter M Andersen,Judith Melki,Vincent Meininger,Orla Hardiman,John E Landers,Robert H Brown,Aleksey Shatunov,Christopher E Shaw,P Nigel Leigh,Ammar Al-Chalabi,Roel A Ophoff,Leonard H van den Berg,Jan H Veldink
    Source: PloS one
  • Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients

    Wednesday, March 14, 2012
    Author(s): Eliana Marisa Ramos,Pamela Keagle,Tammy Gillis,Patrick Lowe,Jayalakshmi S Mysore,Ashley Lyn Leclerc,Antonia Ratti,Nicola Ticozzi,Cinzia Gellera,James F Gusella,Vincenzo Silani,Isabel Alonso,Robert H Brown,Marcy E MacDonald,John E Landers
    Source: Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases
  • Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis

    Friday, December 23, 2011
    Author(s): Michael A van Es,Helenius J Schelhaas,Paul W J van Vught,Nicola Ticozzi,Peter M Andersen,Ewout J N Groen,Claudia Schulte,Hylke M Blauw,Max Koppers,Frank P Diekstra,Katsumi Fumoto,Ashley Lyn LeClerc,Pamela Keagle,Bastiaan R Bloem,Hans Scheffer,Bart F L van Nuenen,Marka van Blitterswijk,Wouter van Rheenen,Anne-Marie Wills,Patrick P Lowe,Guo-fu Hu,Wenhao Yu,Hiroko Kishikawa,David Wu,Rebecca D Folkerth,Claudio Mariani,Stefano Goldwurm,Gianni Pezzoli,Philip Van Damme,Robin Lemmens,Caroline Dahlberg,Anna Birve,Rubén Fernández-Santiago,Stefan Waibel,Christine Klein,Markus Weber,Anneke J van der Kooi,Marianne de Visser,Dagmar Verbaan,Jacobus J van Hilten,Peter Heutink,Eric A M Hennekam,Edwin Cuppen,Daniela Berg,Robert H Brown,Vincenzo Silani,Thomas Gasser,Albert C Ludolph,Wim Robberecht,Roel A Ophoff,Jan H Veldink,R Jeroen Pasterkamp,Paul I W de Bakker,John E Landers,Bart P van de Warrenburg,Leonard H van den Berg
    Source: Annals of neurology
  • Anti-superoxide dismutase antibodies are associated with survival in patients with sporadic amyotrophic lateral sclerosis

    Wednesday, October 26, 2011
    Author(s): Marka van Blitterswijk,Sunita Gulati,Elizabeth Smoot,Matthew Jaffa,Nancy Maher,Bradley T Hyman,Adrian J Ivinson,Clemens R Scherzer,David A Schoenfeld,Merit E Cudkowicz,Robert H Brown,Daryl A Bosco
    Source: Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases
  • Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy

    Tuesday, May 31, 2011
    Author(s): Rachael M Duff,Valerie Tay,Peter Hackman,Gianina Ravenscroft,Catriona McLean,Paul Kennedy,Alina Steinbach,Wiebke Schöffler,Peter F M van der Ven,Dieter O Fürst,Jaeguen Song,Kristina Djinović-Carugo,Sini Penttilä,Olayinka Raheem,Katrina Reardon,Alessandro Malandrini,Simona Gambelli,Marcello Villanova,Kristen J Nowak,David R Williams,John E Landers,Robert H Brown,Bjarne Udd,Nigel G Laing
    Source: American journal of human genetics
  • A yeast model of FUS/TLS-dependent cytotoxicity

    Thursday, May 05, 2011
    Author(s): Shulin Ju,Daniel F Tardiff,Haesun Han,Kanneganti Divya,Quan Zhong,Lynne E Maquat,Daryl A Bosco,Lawrence J Hayward,Robert H Brown,Susan Lindquist,Dagmar Ringe,Gregory A Petsko
    Source: PLoS biology
  • Dysferlinopathies

    Tuesday, April 19, 2011
    Author(s): Anthony A Amato,Robert H Brown
    Source: Handbook of clinical neurology
  • Corticospinal motor neurons and related subcerebral projection neurons undergo early and specific neurodegeneration in hSOD1G⁹³A transgenic ALS mice

    Friday, March 18, 2011
    Author(s): P Hande Ozdinler,Susanna Benn,Ted H Yamamoto,Mine Güzel,Robert H Brown,Jeffrey D Macklis
    Source: The Journal of neuroscience : the official journal of the Society for Neuroscience
  • Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS

    Tuesday, October 19, 2010
    Author(s): Daryl A Bosco,Gerardo Morfini,N Murat Karabacak,Yuyu Song,Francois Gros-Louis,Piera Pasinelli,Holly Goolsby,Benjamin A Fontaine,Nathan Lemay,Diane McKenna-Yasek,Matthew P Frosch,Jeffrey N Agar,Jean-Pierre Julien,Scott T Brady,Robert H Brown
    Source: Nature neuroscience
  • Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study

    Tuesday, August 31, 2010
    Author(s): Aleksey Shatunov,Kin Mok,Stephen Newhouse,Michael E Weale,Bradley Smith,Caroline Vance,Lauren Johnson,Jan H Veldink,Michael A van Es,Leonard H van den Berg,Wim Robberecht,Philip Van Damme,Orla Hardiman,Anne E Farmer,Cathryn M Lewis,Amy W Butler,Olubunmi Abel,Peter M Andersen,Isabella Fogh,Vincenzo Silani,Adriano Chiò,Bryan J Traynor,Judith Melki,Vincent Meininger,John E Landers,Peter McGuffin,Jonathan D Glass,Hardev Pall,P Nigel Leigh,John Hardy,Robert H Brown,John F Powell,Richard W Orrell,Karen E Morrison,Pamela J Shaw,Christopher E Shaw,Ammar Al-Chalabi
    Source: The Lancet. Neurology
  • Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules

    Thursday, August 12, 2010
    Author(s): Daryl A Bosco,Nathan Lemay,Hae Kyung Ko,Hongru Zhou,Chris Burke,Thomas J Kwiatkowski,Peter Sapp,Diane McKenna-Yasek,Robert H Brown,Lawrence J Hayward
    Source: Human molecular genetics
  • A large genome scan for rare CNVs in amyotrophic lateral sclerosis

    Friday, August 06, 2010
    Author(s): Hylke M Blauw,Ammar Al-Chalabi,Peter M Andersen,Paul W J van Vught,Frank P Diekstra,Michael A van Es,Christiaan G J Saris,Ewout J N Groen,Wouter van Rheenen,Max Koppers,Ruben Van't Slot,Eric Strengman,Karol Estrada,Fernando Rivadeneira,Albert Hofman,Andre G Uitterlinden,Lambertus A Kiemeney,Sita H M Vermeulen,Anna Birve,Stefan Waibel,Thomas Meyer,Simon Cronin,Russell L McLaughlin,Orla Hardiman,Peter C Sapp,Martin D Tobin,Louise V Wain,Barbara Tomik,Agnieszka Slowik,Robin Lemmens,Dan Rujescu,Claudia Schulte,Thomas Gasser,Robert H Brown,John E Landers,Wim Robberecht,Albert C Ludolph,Roel A Ophoff,Jan H Veldink,Leonard H van den Berg
    Source: Human molecular genetics
  • Screening for inhibitors of the SOD1 gene promoter: pyrimethamine does not reduce SOD1 levels in cell and animal models

    Tuesday, July 20, 2010
    Author(s): Paul D Wright,Mickey Huang,Alexandra Weiss,Jonathan Matthews,Nicholas Wightman,Marcie Glicksman,Robert H Brown
    Source: Neuroscience letters
  • Paraoxonase gene mutations in amyotrophic lateral sclerosis

    Tuesday, June 29, 2010
    Author(s): Nicola Ticozzi,Ashley Lyn LeClerc,Pamela J Keagle,Jonathan D Glass,Anne-Marie Wills,Marka van Blitterswijk,Daryl A Bosco,Ildefonso Rodriguez-Leyva,Cinzia Gellera,Antonia Ratti,Franco Taroni,Diane McKenna-Yasek,Peter C Sapp,Vincenzo Silani,Clement E Furlong,Robert H Brown,John E Landers
    Source: Annals of neurology
  • Extensive FUS-immunoreactive pathology in juvenile amyotrophic lateral sclerosis with basophilic inclusions

    Tuesday, June 29, 2010
    Author(s): Eric J Huang,Jiasheng Zhang,Felix Geser,John Q Trojanowski,Jonathan B Strober,Dennis W Dickson,Robert H Brown,Barbara E Shapiro,Catherine Lomen-Hoerth
    Source: Brain pathology (Zurich, Switzerland)
  • Membrane blebbing as an assessment of functional rescue of dysferlin-deficient human myotubes via nonsense suppression

    Saturday, June 19, 2010
    Author(s): Bingjing Wang,Zhaohui Yang,Becky K Brisson,Huisheng Feng,Zhiqian Zhang,Ellen M Welch,Stuart W Peltz,Elisabeth R Barton,Robert H Brown,H Lee Sweeney
    Source: Journal of applied physiology (Bethesda, Md. : 1985)
  • ALS-linked mutant SOD1 damages mitochondria by promoting conformational changes in Bcl-2

    Thursday, May 13, 2010
    Author(s): Steve Pedrini,Daniela Sau,Stefania Guareschi,Marina Bogush,Robert H Brown,Nicole Naniche,Azadeh Kia,Davide Trotti,Piera Pasinelli
    Source: Human molecular genetics
  • Vanadium, aluminum, magnesium and manganese are not elevated in hair samples in amyotrophic lateral sclerosis

    Wednesday, May 05, 2010
    Author(s): Galen Royce-Nagel,Merit Cudkowicz,Daniela Myers,Katherine Nicholson,Amy Shui,David Schoenfeld,Xudong Huang,Robert H Brown
    Source: Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases
  • Polymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosis

    Friday, April 23, 2010
    Author(s): Elke Bogaert,An Goris,Philip Van Damme,Veerle Geelen,Robin Lemmens,Michael A van Es,Leonard H van den Berg,Kristel Sleegers,Nathalie Verpoorten,Vincent Timmerman,Peter De Jonghe,Christine Van Broeckhoven,Bryan J Traynor,John E Landers,Robert H Brown,Jonathan D Glass,Ammar Al-Chalabi,Christopher E Shaw,Anna Birve,Peter M Andersen,Agnieszka Slowik,Barbara Tomik,Judith Melki,Wim Robberecht,Ludo Van Den Bosch
    Source: Neurobiology of aging
  • Dysferlin overexpression in skeletal muscle produces a progressive myopathy

    Thursday, April 08, 2010
    Author(s): Louise E Glover,Kimberly Newton,Gomathi Krishnan,Roderick Bronson,Alexandra Boyle,Lisa S Krivickas,Robert H Brown
    Source: Annals of neurology
  • RNA metabolism and the pathogenesis of motor neuron diseases

    Tuesday, March 16, 2010
    Author(s): Robin Lemmens,Melissa J Moore,Ammar Al-Chalabi,Robert H Brown,Wim Robberecht
    Source: Trends in neurosciences
  • Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids

    Tuesday, January 26, 2010
    Author(s): Anke Penno,Mary M Reilly,Henry Houlden,Matilde Laurá,Katharina Rentsch,Vera Niederkofler,Esther T Stoeckli,Garth Nicholson,Florian Eichler,Robert H Brown,Arnold von Eckardstein,Thorsten Hornemann
    Source: The Journal of biological chemistry
  • Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis

    Saturday, January 16, 2010
    Author(s): Devon P Ryan,Magnus R Dias da Silva,Tuck Wah Soong,Bertrand Fontaine,Matt R Donaldson,Annie W C Kung,Wallaya Jongjaroenprasert,Mui Cheng Liang,Daphne H C Khoo,Jin Seng Cheah,Su Chin Ho,Harold S Bernstein,Rui M B Maciel,Robert H Brown,Louis J Ptácek
    Source: Cell
  • Mutational analysis of TARDBP in neurodegenerative diseases

    Friday, December 25, 2009
    Author(s): Nicola Ticozzi,Ashley Lyn LeClerc,Marka van Blitterswijk,Pamela Keagle,Diane M McKenna-Yasek,Peter C Sapp,Vincenzo Silani,Anne-Marie Wills,Robert H Brown,John E Landers
    Source: Neurobiology of aging
  • Overexpression of the wild-type SPT1 subunit lowers desoxysphingolipid levels and rescues the phenotype of HSAN1

    Friday, November 20, 2009
    Author(s): Florian S Eichler,Thorsten Hornemann,Alex McCampbell,Dika Kuljis,Anke Penno,Daniel Vardeh,Eric Tamrazian,Kevin Garofalo,Ho-Joon Lee,Lohit Kini,Martin Selig,Matthew Frosch,Ken Gable,Arnold von Eckardstein,Clifford J Woolf,Guiman Guan,Jeffrey M Harmon,Teresa M Dunn,Robert H Brown
    Source: The Journal of neuroscience : the official journal of the Society for Neuroscience
  • Insect GDNF:TTC fusion protein improves delivery of GDNF to mouse CNS

    Tuesday, October 27, 2009
    Author(s): Jianhong Li,Ru-Ju Chian,Ilknur Ay,Brenda B Kashi,Samuel A Celia,Eric Tamrazian,R Blake Pepinsky,Paul S Fishman,Robert H Brown,Jonathan W Francis
    Source: Biochemical and biophysical research communications
  • Axonal transport defects in neurodegenerative diseases

    Friday, October 16, 2009
    Author(s): Gerardo A Morfini,Matthew Burns,Lester I Binder,Nicholas M Kanaan,Nichole LaPointe,Daryl A Bosco,Robert H Brown,Hannah Brown,Ashutosh Tiwari,Lawrence Hayward,Julia Edgar,Klaus-Armin Nave,James Garberrn,Yuka Atagi,Yuyu Song,Gustavo Pigino,Scott T Brady
    Source: The Journal of neuroscience : the official journal of the Society for Neuroscience
  • Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

    Tuesday, September 08, 2009
    Author(s): Michael A van Es,Jan H Veldink,Christiaan G J Saris,Hylke M Blauw,Paul W J van Vught,Anna Birve,Robin Lemmens,Helenius J Schelhaas,Ewout J N Groen,Mark H B Huisman,Anneke J van der Kooi,Marianne de Visser,Caroline Dahlberg,Karol Estrada,Fernando Rivadeneira,Albert Hofman,Machiel J Zwarts,Perry T C van Doormaal,Dan Rujescu,Eric Strengman,Ina Giegling,Pierandrea Muglia,Barbara Tomik,Agnieszka Slowik,Andre G Uitterlinden,Corinna Hendrich,Stefan Waibel,Thomas Meyer,Albert C Ludolph,Jonathan D Glass,Shaun Purcell,Sven Cichon,Markus M Nöthen,H-Erich Wichmann,Stefan Schreiber,Sita H H M Vermeulen,Lambertus A Kiemeney,John H J Wokke,Simon Cronin,Russell L McLaughlin,Orla Hardiman,Katsumi Fumoto,R Jeroen Pasterkamp,Vincent Meininger,Judith Melki,P Nigel Leigh,Christopher E Shaw,John E Landers,Ammar Al-Chalabi,Robert H Brown,Wim Robberecht,Peter M Andersen,Roel A Ophoff,Leonard H van den Berg
    Source: Nature genetics
  • DNA sequence analysis of the conserved region around the SOD1 gene locus in recessively inherited ALS

    Wednesday, July 15, 2009
    Author(s): Wendy J Broom,Daniel V Johnson,Manuel Garber,Peter M Andersen,Niall Lennon,John Landers,Chad Nusbaum,Carsten Russ,Robert H Brown
    Source: Neuroscience letters
  • IGF-1:tetanus toxin fragment C fusion protein improves delivery of IGF-1 to spinal cord but fails to prolong survival of ALS mice

    Wednesday, July 01, 2009
    Author(s): Ru-Ju Chian,Jianhong Li,Ilknur Ay,Samuel A Celia,Brenda B Kashi,Eric Tamrazian,Jonathan C Matthews,Roderick T Bronson,Anthony Rossomando,R Blake Pepinsky,Paul S Fishman,Robert H Brown,Jonathan W Francis
    Source: Brain research
  • Recombinant GDNF: tetanus toxin fragment C fusion protein produced from insect cells

    Tuesday, May 26, 2009
    Author(s): Jianhong Li,Ru-Ju Chian,Ilknur Ay,Samuel A Celia,Brenda B Kashi,Eric Tamrazian,Jonathan C Matthews,Mary P Remington,R Blake Pepinsky,Paul S Fishman,Robert H Brown,Jonathan W Francis
    Source: Biochemical and biophysical research communications
  • Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis

    Wednesday, May 20, 2009
    Author(s): John E Landers,Judith Melki,Vincent Meininger,Jonathan D Glass,Leonard H van den Berg,Michael A van Es,Peter C Sapp,Paul W J van Vught,Diane M McKenna-Yasek,Hylke M Blauw,Ting-Jan Cho,Meraida Polak,Lijia Shi,Anne-Marie Wills,Wendy J Broom,Nicola Ticozzi,Vincenzo Silani,Aslihan Ozoguz,Ildefonso Rodriguez-Leyva,Jan H Veldink,Adrian J Ivinson,Christiaan G J Saris,Betsy A Hosler,Alayna Barnes-Nessa,Nicole Couture,John H J Wokke,Thomas J Kwiatkowski,Roel A Ophoff,Simon Cronin,Orla Hardiman,Frank P Diekstra,P Nigel Leigh,Christopher E Shaw,Claire L Simpson,Valerie K Hansen,John F Powell,Philippe Corcia,François Salachas,Simon Heath,Pilar Galan,Franck Georges,H Robert Horvitz,Mark Lathrop,Shaun Purcell,Ammar Al-Chalabi,Robert H Brown
    Source: Proceedings of the National Academy of Sciences of the United States of America
  • Serum ferritin and metal levels as risk factors for amyotrophic lateral sclerosis

    Wednesday, May 20, 2009
    Author(s): Muddasir Qureshi,Robert H Brown,Jack T Rogers,Merit E Cudkowicz
    Source: The open neurology journal
  • Identification of small subunits of mammalian serine palmitoyltransferase that confer distinct acyl-CoA substrate specificities

    Thursday, May 07, 2009
    Author(s): Gongshe Han,Sita D Gupta,Kenneth Gable,Somashekarappa Niranjanakumari,Prasun Moitra,Florian Eichler,Robert H Brown,Jeffrey M Harmon,Teresa M Dunn
    Source: Proceedings of the National Academy of Sciences of the United States of America
  • T lymphocytes potentiate endogenous neuroprotective inflammation in a mouse model of ALS

    Tuesday, November 11, 2008
    Author(s): Isaac M Chiu,Adam Chen,Yi Zheng,Bela Kosaras,Stefanos A Tsiftsoglou,Timothy K Vartanian,Robert H Brown,Michael C Carroll
    Source: Proceedings of the National Academy of Sciences of the United States of America
  • Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration

    Tuesday, November 11, 2008
    Author(s): Claire L Simpson,Robin Lemmens,Katarzyna Miskiewicz,Wendy J Broom,Valerie K Hansen,Paul W J van Vught,John E Landers,Peter Sapp,Ludo Van Den Bosch,Joanne Knight,Benjamin M Neale,Martin R Turner,Jan H Veldink,Roel A Ophoff,Vineeta B Tripathi,Ana Beleza,Meera N Shah,Petroula Proitsi,Annelies Van Hoecke,Peter Carmeliet,H Robert Horvitz,P Nigel Leigh,Christopher E Shaw,Leonard H van den Berg,Pak C Sham,John F Powell,Patrik Verstreken,Robert H Brown,Wim Robberecht,Ammar Al-Chalabi
    Source: Human molecular genetics
  • Neonatal neuronal circuitry shows hyperexcitable disturbance in a mouse model of the adult-onset neurodegenerative disease amyotrophic lateral sclerosis

    Friday, October 24, 2008
    Author(s): Brigitte van Zundert,Marieke H Peuscher,Meri Hynynen,Adam Chen,Rachael L Neve,Robert H Brown,Martha Constantine-Paton,Mark C Bellingham
    Source: The Journal of neuroscience : the official journal of the Society for Neuroscience
  • Metabolomic analysis and signatures in motor neuron disease

    Tuesday, September 30, 2008
    Author(s): Steve Rozen,Merit E Cudkowicz,Mikhail Bogdanov,Wayne R Matson,Bruce S Kristal,Chris Beecher,Scott Harrison,Paul Vouros,Jimmy Flarakos,Karen Vigneau-Callahan,Theodore D Matson,Kristyn M Newhall,M Flint Beal,Robert H Brown,Rima Kaddurah-Daouk
    Source: Metabolomics : Official journal of the Metabolomic Society
  • Developmental biology. Neuron research leaps ahead

    Saturday, August 30, 2008
    Author(s): Robert H Brown
    Source: Science (New York, N.Y.)
  • VEGF increases blood-brain barrier permeability to Evans blue dye and tetanus toxin fragment C but not adeno-associated virus in ALS mice

    Saturday, August 30, 2008
    Author(s): Ilknur Ay,Jonathan W Francis,Robert H Brown
    Source: Brain research
  • Phase 2 study of sodium phenylbutyrate in ALS

    Saturday, August 09, 2008
    Author(s): Merit E Cudkowicz,Patricia L Andres,Sally A Macdonald,Richard S Bedlack,Rabia Choudry,Robert H Brown,Hui Zhang,David A Schoenfeld,Jeremy Shefner,Samantha Matson,Wayne R Matson,Robert J Ferrante,Northeast ALS and National VA ALS Research Consortiums
    Source: Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases
  • A common haplotype within the PON1 promoter region is associated with sporadic ALS

    Saturday, July 12, 2008
    Author(s): John E Landers,Lijia Shi,Ting-Jan Cho,Jonathan D Glass,Christopher E Shaw,P Nigel Leigh,Frank Diekstra,Meraida Polak,Ildefonso Rodriguez-Leyva,Stephan Niemann,Bryan J Traynor,Diane McKenna-Yasek,Peter C Sapp,Ammar Al-Chalabi,Anne-Marie A Wills,Robert H Brown
    Source: Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases
  • Medications and laboratory parameters as prognostic factors in amyotrophic lateral sclerosis

    Wednesday, July 09, 2008
    Author(s): Muddasir Qureshi,Amy Shui,Allitia B Dibernardo,Robert H Brown,David A Schoenfeld,Merit E Cudkowicz
    Source: Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases
  • 50bp deletion in the promoter for superoxide dismutase 1 (SOD1) reduces SOD1 expression in vitro and may correlate with increased age of onset of sporadic amyotrophic lateral sclerosis

    Wednesday, July 09, 2008
    Author(s): Wendy J Broom,Matthew Greenway,Ghazaleh Sadri-Vakili,Carsten Russ,Kristen E Auwarter,Kelly E Glajch,Nicolas Dupre,Robert J Swingler,Shaun Purcell,Caroline Hayward,Peter C Sapp,Diane McKenna-Yasek,Paul N Valdmanis,Jean-Pierre Bouchard,Vincent Meininger,Betsy A Hosler,Jonathan D Glass,Meraida Polack,Guy A Rouleau,Jang-Ho J Cha,Orla Hardiman,Robert H Brown
    Source: Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases
  • Thrombopoietin is ineffective in a mouse model of motor neuron disease

    Wednesday, July 09, 2008
    Author(s): Andrew Caraganis,Susanna Benn,Merit Cudkowicz,Robert H Brown
    Source: Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases
  • Evaluation of the Golgi trafficking protein VPS54 (wobbler) as a candidate for ALS

    Wednesday, June 25, 2008
    Author(s): Miriam H Meisler,Carsten Russ,Kate T Montgomery,Matthew Greenway,Sean Ennis,Orla Hardiman,Denise A Figlewicz,Nicole R Quenneville,Elizabeth Conibear,Robert H Brown
    Source: Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases
  • Ro5-4864 promotes neonatal motor neuron survival and nerve regeneration in adult rats

    Thursday, March 13, 2008
    Author(s): Charles Mills,Milan Makwana,Adam Wallace,Susanna Benn,Helmut Schmidt,Irmgard Tegeder,Michael Costigan,Robert H Brown,Gennadij Raivich,Clifford J Woolf
    Source: The European journal of neuroscience
  • Targeted mutation of mouse skeletal muscle sodium channel produces myotonia and potassium-sensitive weakness

    Wednesday, March 05, 2008
    Author(s): Lawrence J Hayward,Joanna S Kim,Ming-Yang Lee,Hongru Zhou,Ji W Kim,Kumudini Misra,Mohammad Salajegheh,Fen-fen Wu,Chie Matsuda,Valerie Reid,Didier Cros,Eric P Hoffman,Jean-Marc Renaud,Stephen C Cannon,Robert H Brown
    Source: The Journal of clinical investigation
  • Amyotrophic lateral sclerosis: an emerging era of collaborative gene discovery

    Friday, December 07, 2007
    Author(s): Katrina Gwinn,Roderick A Corriveau,Hiroshi Mitsumoto,Kate Bednarz,Robert H Brown,Merit Cudkowicz,Paul H Gordon,John Hardy,Edward J Kasarskis,Petra Kaufmann,Robert Miller,Eric Sorenson,Rup Tandan,Bryan J Traynor,Josefina Nash,Alex Sherman,Matthew D Mailman,James Ostell,Lucie Bruijn,Valerie Cwik,Stephen S Rich,Andrew Singleton,Larry Refolo,Jaime Andrews,Ran Zhang,Robin Conwit,Margaret A Keller,ALS Research Group
    Source: PloS one
  • Genetic ablation of NMDA receptor subunit NR3B in mouse reveals motoneuronal and nonmotoneuronal phenotypes

    Friday, September 21, 2007
    Author(s): Stephan Niemann,Hiroaki Kanki,Yasuyuki Fukui,Keizo Takao,Masahiro Fukaya,Meri N Hynynen,Michael J Churchill,Jeremy M Shefner,Roderick T Bronson,Robert H Brown,Masahiko Watanabe,Tsuyoshi Miyakawa,Shigeyoshi Itohara,Yasunori Hayashi
    Source: The European journal of neuroscience
  • Tetanus toxin C fragment-conjugated nanoparticles for targeted drug delivery to neurons

    Saturday, September 15, 2007
    Author(s): Seth A Townsend,Gilad D Evrony,Frank X Gu,Martin P Schulz,Robert H Brown,Robert Langer
    Source: Biomaterials
  • A caspase-3-cleaved fragment of the glial glutamate transporter EAAT2 is sumoylated and targeted to promyelocytic leukemia nuclear bodies in mutant SOD1-linked amyotrophic lateral sclerosis

    Saturday, September 08, 2007
    Author(s): Stuart L Gibb,William Boston-Howes,Zeno S Lavina,Stefano Gustincich,Robert H Brown,Piera Pasinelli,Davide Trotti
    Source: The Journal of biological chemistry
  • Analysis of a genetic defect in the TATA box of the SOD1 gene in a patient with familial amyotrophic lateral sclerosis

    Friday, July 20, 2007
    Author(s): Stephan Niemann,Wendy J Broom,Robert H Brown
    Source: Muscle & nerve
  • A familial form of pallidoluysionigral degeneration and amyotrophic lateral sclerosis with divergent clinical presentations

    Wednesday, July 11, 2007
    Author(s): Carlos Portera-Cailliau,Carsten Russ,Robert H Brown,Andrew E Budson,Jean-Paul Vonsattel,Rebecca D Folkerth,Joseph C Corbo
    Source: Journal of neuropathology and experimental neurology
  • Age at onset in sod1-mediated amyotrophic lateral sclerosis shows familiality

    Wednesday, June 06, 2007
    Author(s): Isabella Fogh,Fruhling Rijsdijk,Peter M Andersen,Pak C Sham,Joanne Knight,Benjamin Neale,Diane McKenna-Yasek,Vincenzo Silani,Robert H Brown,John F Powell,Ammar Al-Chalabi
    Source: Neurogenetics
  • Dysferlin in membrane trafficking and patch repair

    Wednesday, June 06, 2007
    Author(s): Louise Glover,Robert H Brown
    Source: Traffic (Copenhagen, Denmark)
  • Increased affinity for copper mediated by cysteine 111 in forms of mutant superoxide dismutase 1 linked to amyotrophic lateral sclerosis

    Tuesday, April 24, 2007
    Author(s): Shohei Watanabe,Seiichi Nagano,James Duce,Mahmoud Kiaei,Qiao-Xin Li,Stephanie M Tucker,Ashutosh Tiwari,Robert H Brown,M Flint Beal,Lawrence J Hayward,Valeria C Culotta,Satoshi Yoshihara,Saburo Sakoda,Ashley I Bush
    Source: Free radical biology & medicine
  • Case records of the Massachusetts General Hospital. Case 35-2006. A newborn boy with hypotonia

    Friday, November 17, 2006
    Author(s): Robert H Brown,P Ellen Grant,Christopher R Pierson
    Source: The New England journal of medicine
  • A glial cell line-derived neurotrophic factor (GDNF):tetanus toxin fragment C protein conjugate improves delivery of GDNF to spinal cord motor neurons in mice

    Friday, October 06, 2006
    Author(s): Kristin E Larsen,Susanna C Benn,Ilknur Ay,Ru-Ju Chian,Samuel A Celia,Mary P Remington,Michelle Bejarano,Meiqin Liu,Joshua Ross,Paul Carmillo,Dinah Sah,Kester A Phillips,David Sulzer,R Blake Pepinsky,Paul S Fishman,Robert H Brown,Jonathan W Francis
    Source: Brain research
  • Two approaches to drug discovery in SOD1-mediated ALS

    Friday, August 25, 2006
    Author(s): Wendy J Broom,Kristen E Auwarter,Jake Ni,Deborah E Russel,Li-An Yeh,Michele M Maxwell,Marcie Glicksman,Aleksey G Kazantsev,Robert H Brown
    Source: Journal of biomolecular screening
  • Motor unit number estimation predicts disease onset and survival in a transgenic mouse model of amyotrophic lateral sclerosis

    Tuesday, August 08, 2006
    Author(s): Jeremy M Shefner,Merit Cudkowicz,Robert H Brown
    Source: Muscle & nerve
  • Case records of the Massachusetts General Hospital. Case 22-2006--a 77-year-old man with a rapidly progressive gait disorder

    Friday, July 21, 2006
    Author(s): Gilmore N O'Neill,R Gilberto Gonzalez,Didier P Cros,Robert H Ackerman,Robert H Brown,Anat Stemmer-Rachamimov
    Source: The New England journal of medicine
  • Case records of the Massachusetts General Hospital. Case 18-2006. A 57-year-old woman with numbness and weakness of the feet and legs

    Friday, June 16, 2006
    Author(s): William J Triggs,Robert H Brown,Daniel L Menkes
    Source: The New England journal of medicine
  • Calpainopathy and eosinophilic myositis

    Wednesday, May 24, 2006
    Author(s): Robert H Brown,Anthony Amato
    Source: Annals of neurology
  • Caspase-3 cleaves and inactivates the glutamate transporter EAAT2

    Wednesday, March 29, 2006
    Author(s): William Boston-Howes,Stuart L Gibb,Eric O Williams,Piera Pasinelli,Robert H Brown,Davide Trotti
    Source: The Journal of biological chemistry
  • No association of DYNC1H1 with sporadic ALS in a case-control study of a northern European derived population: a tagging SNP approach

    Tuesday, March 21, 2006
    Author(s): Paresh R Shah,Azlina Ahmad-Annuar,Kourosh R Ahmadi,Carsten Russ,Peter C Sapp,H Robert Horvitz,Robert H Brown,David B Goldstein,Elizabeth M C Fisher
    Source: Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases
  • ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis

    Tuesday, February 28, 2006
    Author(s): Matthew J Greenway,Peter M Andersen,Carsten Russ,Sean Ennis,Susan Cashman,Colette Donaghy,Victor Patterson,Robert Swingler,Dairin Kieran,Jochen Prehn,Karen E Morrison,Andrew Green,K Ravi Acharya,Robert H Brown,Orla Hardiman
    Source: Nature genetics
  • Mice deficient in the Rab5 guanine nucleotide exchange factor ALS2/alsin exhibit age-dependent neurological deficits and altered endosome trafficking

    Saturday, December 03, 2005
    Author(s): Shinji Hadano,Susanna C Benn,Shigeru Kakuta,Asako Otomo,Katsuko Sudo,Ryota Kunita,Kyoko Suzuki-Utsunomiya,Hikaru Mizumura,Jeremy M Shefner,Gregory A Cox,Yoichiro Iwakura,Robert H Brown,Joh-E Ikeda
    Source: Human molecular genetics
  • Proteomic profiling of cerebrospinal fluid identifies biomarkers for amyotrophic lateral sclerosis

    Wednesday, November 30, 2005
    Author(s): Srikanth Ranganathan,Eric Williams,Philip Ganchev,Vanathi Gopalakrishnan,David Lacomis,Leo Urbinelli,Kristyn Newhall,Merit E Cudkowicz,Robert H Brown,Robert Bowser
    Source: Journal of neurochemistry
  • Tetanus toxin fragment C fusion facilitates protein delivery to CNS neurons from cerebrospinal fluid in mice

    Tuesday, November 08, 2005
    Author(s): Susanna C Benn,Ilknur Ay,Elena Bastia,Ru-Ju Chian,Samuel A Celia,R Blake Pepinsky,Paul S Fishman,Robert H Brown,Jonathan W Francis
    Source: Journal of neurochemistry
  • Inhibition of SOD1 expression by mitomycin C is a non-specific consequence of cellular toxicity

    Wednesday, October 26, 2005
    Author(s): Wendy J Broom,Ilknur Ay,Piera Pasinelli,Robert H Brown
    Source: Neuroscience letters
  • Mutant SPTLC1 dominantly inhibits serine palmitoyltransferase activity in vivo and confers an age-dependent neuropathy

    Saturday, October 08, 2005
    Author(s): Alexander McCampbell,David Truong,Daniel C Broom,Andrew Allchorne,Ken Gable,Roy G Cutler,Mark P Mattson,Clifford J Woolf,Matthew P Frosch,Jeffrey M Harmon,Teresa M Dunn,Robert H Brown
    Source: Human molecular genetics
  • Variants in candidate ALS modifier genes linked to Cu/Zn superoxide dismutase do not explain divergent survival phenotypes

    Thursday, September 22, 2005
    Author(s): Wendy J Broom,Carsten Russ,Peter C Sapp,Diane McKenna-Yasek,Betsy A Hosler,Peter M Andersen,Robert H Brown
    Source: Neuroscience letters
  • Mutations in neurofilament genes are not a significant primary cause of non-SOD1-mediated amyotrophic lateral sclerosis

    Tuesday, August 09, 2005
    Author(s): Michael L Garcia,Andrew B Singleton,Dena Hernandez,Christopher M Ward,Crystal Evey,Peter A Sapp,John Hardy,Robert H Brown,Don W Cleveland
    Source: Neurobiology of disease
  • Sodium phenylbutyrate prolongs survival and regulates expression of anti-apoptotic genes in transgenic amyotrophic lateral sclerosis mice

    Tuesday, June 07, 2005
    Author(s): Hoon Ryu,Karen Smith,Sandra I Camelo,Isabel Carreras,Junghee Lee,Antonio H Iglesias,Fernando Dangond,Kerry A Cormier,Merit E Cudkowicz,Robert H Brown,Robert J Ferrante
    Source: Journal of neurochemistry
  • Amyotrophic lateral sclerosis--a new role for old drugs

    Friday, April 01, 2005
    Author(s): Robert H Brown
    Source: The New England journal of medicine
  • Small-molecule-mediated stabilization of familial amyotrophic lateral sclerosis-linked superoxide dismutase mutants against unfolding and aggregation

    Wednesday, March 02, 2005
    Author(s): Soumya S Ray,Richard J Nowak,Robert H Brown,Peter T Lansbury
    Source: Proceedings of the National Academy of Sciences of the United States of America
  • Human umbilical cord blood cells differentiate into muscle in sjl muscular dystrophy mice

    Saturday, November 13, 2004
    Author(s): Kimi Y Kong,Jingmei Ren,Morey Kraus,Seth P Finklestein,Robert H Brown
    Source: Stem cells (Dayton, Ohio)
  • Disruption of muscle membrane and phenotype divergence in two novel mouse models of dysferlin deficiency

    Friday, July 16, 2004
    Author(s): Mengfatt Ho,Cristina M Post,Leah R Donahue,Hart G W Lidov,Roderick T Bronson,Holly Goolsby,Simon C Watkins,Gregory A Cox,Robert H Brown
    Source: Human molecular genetics
  • Amyotrophic lateral sclerosis-associated SOD1 mutant proteins bind and aggregate with Bcl-2 in spinal cord mitochondria

    Tuesday, July 06, 2004
    Author(s): Piera Pasinelli,Mary Elizabeth Belford,Niall Lennon,Brian J Bacskai,Bradley T Hyman,Davide Trotti,Robert H Brown
    Source: Neuron
  • Prophylactic creatine administration mediates neuroprotection in cerebral ischemia in mice

    Friday, July 02, 2004
    Author(s): Shan Zhu,Mingwei Li,Bryan E Figueroa,Aijian Liu,Irina G Stavrovskaya,Piera Pasinelli,M Flint Beal,Robert H Brown,Bruce S Kristal,Robert J Ferrante,Robert M Friedlander
    Source: The Journal of neuroscience : the official journal of the Society for Neuroscience
  • An intersubunit disulfide bond prevents in vitro aggregation of a superoxide dismutase-1 mutant linked to familial amytrophic lateral sclerosis

    Wednesday, April 28, 2004
    Author(s): Soumya S Ray,Richard J Nowak,Konstantin Strokovich,Robert H Brown,Thomas Walz,Peter T Lansbury
    Source: Biochemistry
  • Putting the heat on ALS

    Friday, April 02, 2004
    Author(s): Susanna C Benn,Robert H Brown
    Source: Nature medicine
  • RNA interference-mediated silencing of mutant superoxide dismutase rescues cyclosporin A-induced death in cultured neuroblastoma cells

    Thursday, February 26, 2004
    Author(s): Michele M Maxwell,Piera Pasinelli,Aleksey G Kazantsev,Robert H Brown
    Source: Proceedings of the National Academy of Sciences of the United States of America
  • A survival motor neuron:tetanus toxin fragment C fusion protein for the targeted delivery of SMN protein to neurons

    Thursday, December 04, 2003
    Author(s): Jonathan W Francis,Dayse Figueiredo,Johanna C vanderSpek,Laura M Ayala,Young Seon Kim,Mary P Remington,Philip J Young,Christian L Lorson,Shinichiro Ikebe,Paul S Fishman,Robert H Brown
    Source: Brain research
  • Molecular signature of late-stage human ALS revealed by expression profiling of postmortem spinal cord gray matter

    Wednesday, December 03, 2003
    Author(s): Fernando Dangond,Daehee Hwang,Sandra Camelo,Piera Pasinelli,Matthew P Frosch,Gregory Stephanopoulos,George Stephanopoulos,Robert H Brown,Steven R Gullans
    Source: Physiological genomics
  • Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes

    Friday, September 26, 2003
    Author(s): Peter M Andersen,Katherine B Sims,Winnie W Xin,Rosemary Kiely,Gilmore O'Neill,John Ravits,Erik Pioro,Yadollah Harati,Richard D Brower,Johanan S Levine,Hedvika U Heinicke,William Seltzer,Michael Boss,Robert H Brown
    Source: Amyotrophic lateral sclerosis and other motor neuron disorders : official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases
  • Dysferlin interacts with annexins A1 and A2 and mediates sarcolemmal wound-healing

    Thursday, September 25, 2003
    Author(s): Niall J Lennon,Alvin Kho,Brian J Bacskai,Sarah L Perlmutter,Bradley T Hyman,Robert H Brown
    Source: The Journal of biological chemistry
  • Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis

    Tuesday, July 15, 2003
    Author(s): Peter C Sapp,Betsy A Hosler,Diane McKenna-Yasek,Wendy Chin,Amity Gann,Hilary Genise,Julie Gorenstein,Michael Huang,Wen Sailer,Meg Scheffler,Marianne Valesky,Jonathan L Haines,Margaret Pericak-Vance,Teepu Siddique,H Robert Horvitz,Robert H Brown
    Source: American journal of human genetics
  • Ciliary neurotrophic factor genotype does not influence clinical phenotype in amyotrophic lateral sclerosis

    Thursday, July 03, 2003
    Author(s): Ammar Al-Chalabi,Margaret D Scheffler,Bradley N Smith,Matthew J Parton,Merit E Cudkowicz,Peter M Andersen,Douglas L Hayden,Valerie K Hansen,Martin R Turner,Christopher E Shaw,P Nigel Leigh,Robert H Brown
    Source: Annals of neurology
  • Variants in the ALS2 gene are not associated with sporadic amyotrophic lateral sclerosis

    Wednesday, May 28, 2003
    Author(s): Ammar Al-Chalabi,Valerie K Hansen,Claire L Simpson,Jing Xi,Betsy A Hosler,John F Powell,Diane McKenna-Yasek,Christopher E Shaw,P Nigel Leigh,Robert H Brown
    Source: Neurogenetics
  • Mutant dynactin in motor neuron disease

    Tuesday, March 11, 2003
    Author(s): Imke Puls,Catherine Jonnakuty,Bernadette H LaMonte,Erika L F Holzbaur,Mariko Tokito,Eric Mann,Mary Kay Floeter,Kimberly Bidus,Dennis Drayna,Shin J Oh,Robert H Brown,Christy L Ludlow,Kenneth H Fischbeck
    Source: Nature genetics
  • Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis

    Wednesday, November 06, 2002
    Author(s): Khemissa Bejaoui,Yoshikazu Uchida,Satoshi Yasuda,Mengfatt Ho,Masahiro Nishijima,Robert H Brown,Walter M Holleran,Kentaro Hanada
    Source: The Journal of clinical investigation
  • A novel mutation in the spastin gene in a family with spastic paraplegia

    Thursday, May 23, 2002
    Author(s): Mitsuya Morita,Mac Ho,Betsy A Hosler,Diane McKenna-Yasek,Robert H Brown
    Source: Neuroscience letters
  • Familial amyotrophic lateral sclerosis-associated mutations decrease the thermal stability of distinctly metallated species of human copper/zinc superoxide dismutase

    Thursday, February 21, 2002
    Author(s): Jorge A Rodriguez,Joan S Valentine,Daryl K Eggers,James A Roe,Ashutosh Tiwari,Robert H Brown,Lawrence J Hayward
    Source: The Journal of biological chemistry
  • Decreased metallation and activity in subsets of mutant superoxide dismutases associated with familial amyotrophic lateral sclerosis

    Thursday, February 21, 2002
    Author(s): Lawrence J Hayward,Jorge A Rodriguez,Ji W Kim,Ashutosh Tiwari,Joy J Goto,Diane E Cabelli,Joan Selverstone Valentine,Robert H Brown
    Source: The Journal of biological chemistry
  • A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and Miyoshi myopathy

    Thursday, January 10, 2002
    Author(s): Mengfatt Ho,Eduard Gallardo,Diane McKenna-Yasek,Noemi De Luna,Isabel Illa,Robert H Brown
    Source: Annals of neurology
  • Comparison of incremental with multipoint MUNE methods in transgenic ALS mice

    Wednesday, December 26, 2001
    Author(s): Jeremy M Shefner,Merit E Cudkowicz,Robert H Brown
    Source: Muscle & nerve
  • A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q

    Wednesday, November 14, 2001
    Author(s): Collette K Hand,Jawad Khoris,François Salachas,François Gros-Louis,Ana Amélia Simões Lopes,Veronique Mayeux-Portas,Carl G Brewer,Robert H Brown,Vincent Meininger,William Camu,Guy A Rouleau
    Source: American journal of human genetics