Summary Charcot–Marie–Tooth disease is the most common inherited neuromuscular
disorder. There have been substantial advances in elucidating the molecular bases of this …

Insect meals are novel and potentially sustainable protein sources. The objectives of this
study were to determine the chemical composition and standardized amino acid digestibility …

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 …

Abstract Objective Charcot‐Marie‐Tooth disease (CMT) affects 1 in 2,500 people and is
caused by mutations in more than 30 genes. Identifying the genetic cause of CMT is often …

The Charcot‐Marie‐Tooth neuropathy score (CMTNS) is a reliable and valid composite
score comprising symptoms, signs, and neurophysiological tests, which has been used in …

Background Patisiran is an investigational RNA interference (RNAi) therapeutic in
development for the treatment of hereditary ATTR (hATTR) amyloidosis, a progressive …

Background Ascorbic acid reduced the severity of neuropathy in transgenic mice
overexpressing peripheral myelin protein 22 (PMP22), a model of Charcot–Marie–Tooth …

Abstract PMP22 related neuropathies comprise (1) PMP22 duplications leading to Charcot-
Marie-Tooth disease type 1A (CMT1A),(2) PMP22 deletions, leading to Hereditary …

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

Objective To evaluate the safety and efficacy of l-serine in humans with hereditary sensory
autonomic neuropathy type I (HSAN1). Methods In this randomized, placebo-controlled …