Neprilysin (NEP) is an integral membrane-bound metallopeptidase with a wide spectrum of
substrates and physiological functions. It plays an important role in proteolytic processes in …

Abstract Charcot–Marie–Tooth disease and the related disorders hereditary motor
neuropathy and hereditary sensory neuropathy, collectively termed CMT, are the …

Late-onset ataxia is common, often idiopathic, and can result from cerebellar, proprioceptive,
or vestibular impairment; when in combination, it is also termed cerebellar ataxia …

This is a rapidly evolving field where better understanding of pathophysiology is paving the
way to develop potentially effective treatments, part of which will soon be tested in patients …

Neprilysin has a major role in both the generation and degradation of bioactive peptides.
LCZ696 (valsartan/sacubitril, Entresto), the first of the new ARNI (dual-acting angiotensin …

Advances in next-generation sequencing technology, cell biology and animal models of
CMT are paving the way for rational treatments. The combination of robust natural history …

Diagnostic Molecular Biology describes the fundamentals of molecular biology in a clear,
concise manner to aid in the comprehension of this complex subject. Each technique …

Japan has been facing challenges relating to specifically defined rare diseases, called Nan-
Byo in Japanese (literally 'difficult'+'illness'), and has already taken measures for them since …

Recent research in the field of inherited peripheral neuropathies (IPNs) such as Charcot–
Marie–Tooth (CMT) disease has helped identify the causative genes provided better …

Objective To identify the genetic characteristics in a large-scale of patients with Charcot-
Marie-Tooth disease (CMT). Methods From May 2012 to August 2016, we collected 1005 …