Abstract Background and Aims Several widely used medications, with a relevant efficacy
profile, are toxic to the peripheral nervous system and an even larger number of agents are …

Abstract Charcot-Marie-Tooth disease (CMT) is one of the most common and genetically
heterogeneous inherited neurological diseases, with more than 130 disease-causing genes …

Introduction Inhibition of the enzymatic function of HDAC6 is currently being explored in
clinical trials ranging from peripheral neuropathies to cancers. Advances in selective …

Background and purpose Data are reported from the Italian CMT Registry. Methods The
Italian CMT Registry is a dual registry where the patient registers and chooses a reference …

Dominant genetic variants in the mitofusin 2 (MFN2) gene lead to Charcot-Marie-Tooth type
2A (CMT2A), a neurodegenerative disease caused by genetic defects that directly damage …

Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant
demyelinating neuropathy characterized by an increased susceptibility to peripheral nerve …

Background To identify clinical factors and biomarkers that could contribute to early
differential diagnosis of acute inflammatory demyelinating polyneuropathy (AIDP) and acute …

Abstract Introduction Charcot-Marie-Tooth disease (CMT) is classified according to
neurophysiological and histological findings, the inheritance pattern, and the underlying …

Background We aimed to investigate the clinical features of a large cohort of patients with
myelin protein zero (MPZ)-related neuropathy, focusing on the five main mutation clusters …

Most neuromuscular disorders are rare, but as a group they are not. Nevertheless,
epidemiological data of specific neuromuscular disorders are scarce, especially on the …