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

por Jerath, Nivedita U.
Publicado 2019

Mild Late-Onset Sensory Neuropathy Associated with Heterozygous Missense GDAP1 Variants

por Jerath, Nivedita U.
Publicado 2022

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

por Ho, Kwo Wei David, Jerath, Nivedita U.
Publicado 2018

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

por Ho, Kwo Wei David, Jerath, Nivedita U.
Publicado 2018

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

por Jerath, Nivedita U., Grider, Tiffany, Shy, Michael E.
Publicado 2015

Factors influencing aversion to specific electrodiagnostic studies

por Jerath, Nivedita U, Strader, Scott B, Reddy, Chandan G, Swenson, Andrea, Kimura, Jun, Aul, Edward
Publicado 2014

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

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