This review provides a concise overview of the epidemiology, etiology, history, diagnostic criteria, and management of Charcot-Marie-Tooth disease. Charcot-Marie-Tooth (CMT) disease is a group of ...

† Department of Physics and Earth Sciences, Jacobs University Bremen, Campus Ring 1, 28759 Bremen, Germany ‡ Department of Life Sciences and Chemistry, Jacobs University Bremen, Campus Ring 1, 28759 ...

Charcot-Marie-Tooth disease (CMT) due to GJB1 variants (CMTX1) is the second most common form of CMT. It is an X-linked disorder characterized by progressive sensory and motor neuropathy with males ...

OBJECTIVE: Charcot-Marie-Tooth disease covers a group of inherited peripheral neuropathies. The aim of this study was to investigate the effect of targeted next-generation sequencing panels on the ...

We demonstrated that these mutants altered GJB1 expression and augmented properties prone to constitute self-organized aggregates or insoluble fibrils mostly in the endoplasmic reticulum compartments.

Abnormal endothelial function in the lungs is implicated in the development of pulmonary hypertension; however, there is little information about the difference of endothelial function between small ...

Despite recent advances in our understanding of PNS injury-induced inflammation, a comparative analysis of the leukocyte subtypes within the injured sciatic nerve and axotomized DRGs does not yet ...

It is caused by Gap junction protein beta-1 [GJB1, also known as connexin 32 (Cx32)] gene mutations. The typical clinical feature of CMTX1 is characterized by a distal motor and sensory polyneuropathy ...

Two large cohorts of inherited axonal and demyelinating neuropathies have been analysed for the presence of abnormalities in common genes, namely MFN2, PMP22, MPZ and GJB1. Professor Gayathri: a ...

Unit of Neurology VIII—Clinics of Central and Peripheral Degenerative Neuropathies, Department of Clinical Neurosciences, IRCCS Foundation, C Besta Neurological Institute, Milan, Italy ...