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Publications

De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies

Posted on February 23, 2015

Appenzeller, S. , Balling, R., Barisic, N., Baulac, S., Caglayan, H., Craiu, D., De Jonghe, P. et al; 2014 American Journal of Human Genetics, 95(4) pp360-370 Read More

Posted in: Neurogenetics, Publications Faculty:

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

Posted on February 23, 2015

Conrad C. Weihl, Robert H. Baloh, Youjin Lee, Tsui-Fen Chou, Sara K. Pittman, Glenn Lopate, Peggy Allred, Jennifer Jockel-Balsarotti, and others; Neuromuscular Disorders Published online: January 6, 2015 Read More

Posted in: HPAN, Neurodegeneration, Publications Faculty:

Autonomic neuropathy in experimental models of diabetes mellitus

Posted on February 23, 2015

Christine M Emnett, Lawrence N Eisenman, Jayaram Mohan, Amanda A Taylor, James J Doherty, Steven M Paul, Charles F Zorumski and Steven Mennerick; 2015 British Journal of Pharmacology, 172(5) pp1333-1347 Read More

Posted in: HPAN, Neurodegeneration, 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

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

The “hierarchical” Scratch Collapse Test for identifying multilevel ulnar nerve compression

Posted on February 23, 2015

Kristen M. Davidge , Gil Gontre, David Tang, Kirsty U. Boyd, Andrew Yee, Marci S. Damiano1 and Susan E. Mackinnon; 2015 Hand, American Association for Hand Surgery 2015 10.1007/s11552-014-9721-z Read More

Posted in: Axon Injury & Repair, Publications Faculty: