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

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

Autophagic vacuolar pathology in desminopathies

Posted on March 12, 2015

Weihl CC, Iyadurai S, Baloh RH, et al: 2014 Neuromuscular Disorders Read More

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

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

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