News & Publications for:

Matthew Harms

Autophagic vacuolar pathology in desminopathies

Posted on March 27, 2015

Weihl CC, Iyadurai S, Baloh RH, et al: 2015 Neuromuscular Disorders, 25(3), pp199-206 Read More

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

Posted on March 12, 2015

Scoto M, Rossor Am, Harms MB, et al: 2015 Neurology, 84(7), pp 668-679 Read More

Posted in: HPAN, Neurodegeneration, Neurogenetics, Publications Faculty:

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2

Posted on February 23, 2015

Ellen Cottenie, Andrzej Kochanski, Albena Jordanova, Boglarka Bansagi, Magdalena Zimon, Alejandro Horga, Zane Jaunmuktane, Paola Saveri, and others; The American Journal of Human Genetics, Vol. 95, Issue 5, p590–601 Published online: October 30, 2014 Read More

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

Posted on February 12, 2015

Conrad C. Weihl, Robert H. Baloh, Youjin Lee, Tsui-Fen Chou, Sara K. Pittman, Glenn Lopate, Peggy Allred, Jennifer Jockel-Balsarotti, and others; 2015, Neuromuscular Disorders Read More

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Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes

Posted on January 29, 2015

Janet Cady, Peggy Allred, Taha Bali, Alan Pestronk, Alison Goate, Timothy M. Miller, Robi D. Mitra, John Ravits, Matthew B. Harms and Robert H. Baloh; 2015 Annals of Neurology, 77(1), pp100-113 Read More

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