Charcot-Marie-Tooth Disease (CMT)

Charcot-Marie-Tooth (CMT) disease is a hereditary motor and sensory neuropathy characterized by loss of muscle and touch sensation. Discover the latest research on CMT here.

August 15, 2018
Open Access

A COMBINED OUTPATIENT AND INPATIENT OVERNIGHT WATER DEPRIVATION TEST IS EFFECTIVE AND SAFE IN DIAGNOSING PATIENTS WITH POLYURIA-POLYDIPSIA SYNDROME

Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists
William PedrosaAntônio Ribeiro-Oliveira
April 25, 2018
Open Access

An estimation of the prevalence of genomic disorders using chromosomal microarray data

Journal of Human Genetics
Madelyn A GillentineChristian P Schaaf
July 18, 2018
Open Access

DI-tector : defective interfering viral genomes' detector for next-generation sequencing data

RNA
Guillaume BeauclairAnastassia V Komarova
October 19, 2018
Review

Posterior pituitary dysfunction following traumatic brain injury: review

Pituitary
Roxana Maria Tudor, Christopher J Thompson
January 29, 2020
Case Report

Expansion of the phenotypic spectrum of X-linked Charcot-Marie-Tooth (CMT) disease

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia
Qijie YangJuan Du
October 1, 2018
Open Access

Acetylation of C-terminal lysines modulates protein turnover and stability of Connexin-32

BMC Cell Biology
Sarah R AlaeiMona M Freidin
January 17, 2020
Open Access

A novel GJB1 mutation associated with X-linked Charcot-Marie-Tooth disease in a large Chinese family pedigree

Molecular Genetics & Genomic Medicine
Yingdi LiuLingqian Wu
May 2, 2018
Case Report
Open Access

Development of Autoimmune Hepatitis during Direct-acting Antiviral Therapy for Chronic Hepatitis C Virus Infection

Internal Medicine
Kotaro MatsumotoIchiro Yasuda
September 15, 2018

Nerve ultrasound findings differentiate Charcot-Marie-Tooth disease (CMT) 1A from other demyelinating CMTs

Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology
Giampietro ZanetteStefano Tamburin
November 12, 2018

Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations

Journal of Medical Genetics
Vincenzo LupoTeresa Sevilla
September 19, 2019

A Retrospective Study of Childhood Sex-Typed Behavior in Istmo Zapotec Men, Women, and Muxes

Archives of Sexual Behavior
Francisco R Gómez JiménezPaul L Vasey
August 31, 2018
Open Access

Predictive performance of a multivariable difficult intubation model for obese patients

PloS One
Arunotai SiriussawakulChayanan Thanakiattiwibun
January 24, 2020
Open Access

Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs

Disease Models & Mechanisms
Gonzalo Perez-SilesMarina L Kennerson
August 7, 2018
Review
Open Access

Role of bisphosphonates in the management of acute Charcot foot

World Journal of Diabetes
Harsh DurgiaHenith Raj
July 17, 2020
Open Access

Contained Mycobacterium tuberculosis infection induces concomitant and heterologous protection

PLoS Pathogens
Johannes NemethAlan H Diercks

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