Publications

The latest published manuscripts and reviews from Hope Center investigators, and publications based on use of Hope Center Cores. Click on titles to learn more. Read More

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: