The objective of this study is to assess the genetic distribution of Charcot‐Marie‐Tooth (
CMT ) disease in Campania, a region of Southern Italy. We analyzed a cohort of 197 index …

Mutations in the small heat‐shock protein 27 kDa protein 1 (HSPB1) and 22 kDa protein 8 (HSPB8)
genes were associated with distal hereditary motor neuropathy (dHMN) and with the …

Genetic discoveries in amyotrophic lateral sclerosis (ALS) have a significant impact on
deciphering molecular mechanisms of motor neuron degeneration but, despite recent advances, …

Background Inherited peripheral neuropathies (IPNs) represent a broad group of genetically
and clinically heterogeneous disorders, including axonal Charcot-Marie-Tooth type 2 (CMT2…

Objective Charcot‐Marie‐Tooth (CMT) disease 4B1 and 4B2 (CMT4B1/B2) are characterized
by recessive inheritance, early onset, severe course, slowed nerve conduction, and myelin …

Mutations in the myelin protein zero (MPZ) gene have been associated with different
Charcot–Marie–Tooth disease (CMT) phenotypes, including classical demyelinating CMT1B and …

MicroRNAs have been proposed as novel regulators of vascular inflammation and dysfunction.
This study aimed to evaluate the role of miR-149 in regulating the expression of key …

Mutations in small heat-shock protein 27 and small heat-shock protein 22 genes were found
in association with Charcot-Marie-Tooth disease type 2 and distal hereditary motor …

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with a heterogeneous
genetic background. Because mutation analysis by Sanger sequencing is costly and time-…

Nerve biopsy represents the conclusive step in the diagnostic work-up of peripheral neuropathies,
and its diagnostic yield is still debated. The aim of this study is to consider the impact …