Matthew B Harms

Matthew B Harms

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Matthew B Harms

Matthew B Harms

Publications by authors named "Matthew B Harms"

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Homozygous recessive MYH2 mutation mimicking dominant MYH2 associated myopathy.

Neuromuscul Disord 2018 08 21;28(8):675-679. Epub 2018 May 21.

Department of Neurology, Hope Center for Neurological Diseases, Washington University School of Medicine, St Louis, MO 63110, United States. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2018.05.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6466613PMC
August 2018

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Authors:
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 Shankaracharya Bradley N Smith Giuseppe Marangi Simon D Topp Yevgeniya Abramzon Athina Soragia Gkazi John D Eicher Aoife Kenna 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 Cristiane de Araujo Martins Moreno Sitharthan Kamalakaran David B Goldstein Aaron D Gitler Tim Harris Richard M Myers Hemali Phatnani Rajeeva Lochan Musunuri Uday Shankar Evani Avinash Abhyankar Michael C Zody 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 Michael Benatar J Paul Taylor Evadnie Rampersaud Gang Wu Joanne Wuu Giuseppe Lauria Federico Verde Isabella Fogh Cinzia Tiloca Giacomo P Comi Gianni Sorarù Cristina Cereda 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 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

Neuron 2018 03;97(6):1268-1283.e6

Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2018.02.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5867896PMC
March 2018

Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.

Neurobiol Aging 2017 03 21;51:178.e11-178.e20. Epub 2016 Dec 21.

The Euan MacDonald Centre for Motor Neurone Disease Research, University of Edinburgh, Edinburgh, UK; Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2016.12.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5302213PMC
March 2017

Poly-dipeptides encoded by the C9ORF72 repeats block global protein translation.

Hum Mol Genet 2016 05 29;25(9):1803-13. Epub 2016 Feb 29.

Department of Medicine, Division of Endocrinology, Metabolism, and Lipid Research, Department of Pathology and Immunology and

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http://dx.doi.org/10.1093/hmg/ddw052DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4986334PMC
May 2016

Neuromuscular Emergencies.

Semin Neurol 2015 Dec 23;35(6):683-9. Epub 2015 Nov 23.

Neuromuscular Division, Department of Neurology, Washington University School of Medicine, St. Louis, Missouri.

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http://dx.doi.org/10.1055/s-0035-1564303DOI Listing
December 2015

C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTD.

Neuron 2015 Dec;88(5):892-901

Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA; Department of Neurology, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2015.10.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4672384PMC
December 2015

SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles.

Neurology 2015 Aug 24;85(8):665-74. Epub 2015 Jul 24.

From the Department of Neurology (R.C.B., K.A., A.P., S.K.P., M.B.H., C.C.W.), Washington University School of Medicine, Saint Louis, MO; Dent Neurologic Institute (L.R.), Amherst, NY; Department of Neurogenetics (C.M.S.), Kolling Institute of Medical Research, Royal North Shore Hospital and University of Sydney, St Leonard's, New South Wales, Australia; Folkhalsan Institute of Genetics and Department of Medical Genetics (A.E., P.H., B.U.), Haartman Institute, University of Helsinki, Finland; Neuromuscular Research Center (B.U.), Tampere University Hospital and University of Tampere, Finland; and Department of Neurology (B.U.), Vaasa Central Hospital, Vaasa, Finland.

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http://dx.doi.org/10.1212/WNL.0000000000001864DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4553032PMC
August 2015

Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis.

Neuromuscul Disord 2015 Apr 6;25(4):289-96. Epub 2015 Jan 6.

Department of Neurology, Hope Center for Neurologic Disorders, Washington University School of Medicine, Saint Louis, MO 63110, United States.

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http://dx.doi.org/10.1016/j.nmd.2014.12.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4372452PMC
April 2015

Autophagic vacuolar pathology in desminopathies.

Neuromuscul Disord 2015 Mar 12;25(3):199-206. Epub 2014 Dec 12.

Department of Neurology and Hope Center for Neurologic Disorders, Washington University School of Medicine, Saint Louis, MO, USA.

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http://dx.doi.org/10.1016/j.nmd.2014.12.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4355324PMC
March 2015

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.

Neurology 2015 Feb 21;84(7):668-79. Epub 2015 Jan 21.

From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.

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http://www.neurology.org/content/84/7/668.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000126
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http://dx.doi.org/10.1212/WNL.0000000000001269DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4336105PMC
February 2015

Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier.

Acta Neuropathol 2015 Jan 12;129(1):39-52. Epub 2014 Nov 12.

Translational Neuropathology Research Laboratory, Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, 605B Stellar Chance Laboratories, 422 Curie Blvd, Philadelphia, PA, 19104, USA.

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http://dx.doi.org/10.1007/s00401-014-1365-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4282973PMC
January 2015

TREM2 variant p.R47H as a risk factor for sporadic amyotrophic lateral sclerosis.

JAMA Neurol 2014 Apr;71(4):449-53

Department of Neurology, Washington University School of Medicine, St Louis, Missouri7Hope Center for Neurological Disorders, Washington University School of Medicine, St Louis, Missouri.

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http://dx.doi.org/10.1001/jamaneurol.2013.6237DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4087113PMC
April 2014

Ultrasound of inherited vs. acquired demyelinating polyneuropathies.

J Neurol 2013 Dec 8;260(12):3115-21. Epub 2013 Oct 8.

Department of Neurology, Washington University School of Medicine, 660 S. Euclid Ave, Box 8111, St. Louis, MO, 63110, USA,

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http://dx.doi.org/10.1007/s00415-013-7123-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3970398PMC
December 2013

RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia.

Proc Natl Acad Sci U S A 2013 Dec 18;110(51):E4968-77. Epub 2013 Nov 18.

Department of Molecular Genetics and Microbiology, Department of Neurology, and Department of Neuroscience, Center for NeuroGenetics, Genetics Institute, College of Medicine, University of Florida, Gainesville, FL 32610.

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http://dx.doi.org/10.1073/pnas.1315438110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3870665PMC
December 2013

Clinical neurogenetics: amyotrophic lateral sclerosis.

Neurol Clin 2013 Nov;31(4):929-50

Neuromuscular Division, Department of Neurology, Hope Center for Neurological Disorders, Washington University School of Medicine, 660 South Euclid Avenue, St Louis, MO 63110, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ncl.2013.05.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3815699PMC
November 2013

Multifocal radiculoneuropathy during ipilimumab treatment of melanoma.

Muscle Nerve 2013 Sep 27;48(3):440-4. Epub 2013 Jul 27.

Department of Neurology Washington University School of Medicine, 600 South Euclid Avenue, St. Louis, Missouri, 63110, USA.

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http://dx.doi.org/10.1002/mus.23830DOI Listing
September 2013

Parkinson disease is not associated with C9ORF72 repeat expansions.

Neurobiol Aging 2013 May 30;34(5):1519.e1-2. Epub 2012 Oct 30.

Department of Neurology, Washington University School of Medicine, Saint Louis, MO 63110, USA.

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http://dx.doi.org/10.1016/j.neurobiolaging.2012.10.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3566343PMC
May 2013

Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy.

Ann Neurol 2012 Mar 14;71(3):407-16. Epub 2012 Feb 14.

Department of Neurology, Hope Center for Neurological Diseases, Washington University School of Medicine, St. Louis, MO 63110, USA.

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http://dx.doi.org/10.1002/ana.22683DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3314127PMC
March 2012