Vincristine is a chemotherapeutic agent that is a component of many combination regimens
for a variety of malignancies, including several common pediatric tumors. Vincristine …

Inherited neuropathies known as Charcot-Marie-Tooth (CMT) disease are genetically
heterogeneous disorders affecting the peripheral nerves, causing significant and slowly …

Background The international Inherited Neuropathy Consortium (INC) was created with the
goal of obtaining much needed natural history data for patients with Charcot-Marie-Tooth …

Pediatric neuromuscular diseases encompass all disorders with onset in childhood and
where the primary area of pathology is in the peripheral nervous system. These conditions …

Heritable neurological disorders provide insights into disease mechanisms that permit
development of novel therapeutic approaches including antisense oligonucleotides, RNA …

Abstract Mitofusin-2 (MFN2) is one of two ubiquitously expressed homologous proteins in
eukaryote cells, playing a critical role in mitochondrial fusion. Mutations in MFN2 (most …

Importance No current medications improve neuropathy in subjects with Charcot-Marie-
Tooth disease type 1A (CMT1A). Ascorbic acid (AA) treatment improved the neuropathy of a …

Objective: To generate a reference dataset of commonly performed functional outcome
measures in 1,000 children and adults and investigate the influence of demographic …

There has been considerable progress in develo** treatments for Charcot-Marie-Tooth
disease with a number of therapies either completing or nearing clinical trials. In the case of …

Abstract Charcot–Marie–Tooth disease type 2A (CMT2A) is a rare inherited axonal
neuropathy caused by mutations in MFN2 gene, which encodes Mitofusin 2, a …