Resolving a Multi-Generational Neuromuscular Mystery in a Family Presenting with a Variable Scapuloperoneal Syndrome in a c.464G>A, p.Arg155His VCP Mutation

by Nivedita U. Jerath
Published 2019-01-01

V144D Mutation of SPTLC1 Can Present with Both Painful and Painless Phenotypes in Hereditary Sensory and Autonomic Neuropathies Type I

by Kwo Wei David Ho, Nivedita U. Jerath
Published 2018-01-01

T118M Variant of PMP22 Gene Presents with Painful Peripheral Neuropathy and Varying Charcot-Marie-Tooth Features: A Case Series and Review of the Literature

by Kwo Wei David Ho, Nivedita U. Jerath
Published 2018-01-01

Progressive Lower Extremity Weakness and Axonal Sensorimotor Polyneuropathy from a Mutation in KIF5A (c.611G>A;p.Arg204Gln)

by Nivedita U. Jerath, Tiffany Grider, Michael E. Shy
Published 2015-01-01

Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation

by Nivedita U. Jerath, Cameron D. Crockett, Steven A. Moore, Michael E. Shy, Conrad C. Weihl, Tsui-Fen Chou, Tiffany Grider, Michael A. Gonzalez, Stephan Zuchner, Andrea Swenson
Published 2015-01-01