News & Publications for:

Matthew Harms

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

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

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: , ,

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

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

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

Posted on December 18, 2014

Jenny Russ, Elaine Y. Liu, Kathryn Wu, Donald Neal, EunRan Suh, David J. Irwin, Corey T. McMillan, Matthew B. Harms, Nigel J. Cairns, Elisabeth M. Wood, Sharon X. Xie, Lauren Elman, Leo McCluskey, Murray Grossman, Vivianna M. Deerlin, Edward B. Lee; 2014 Acta Neuropathologica, 14p Read More

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