Results 21 to 30 of about 13,655 (181)

Charcot Marie Tooth Disease Type 1 - Rare but Commonest Hereditary Neuropathy [PDF]

Al Ameen Journal of Medical Sciences, 2012
Objective: To present a case of Charcot Marie Tooth Disease. Backgrounds: A 22 years old boy presented with very slowly progressive symmetrical weakness of both lower limbs with distal muscular atrophy.
Shakya Bhattacharjee, Shankar Prasad Saha   +1 more
doaj  

Effectiveness of a specific physical therapy program for Charcot-Marie-Tooth on sleep quality, pain perception, and nocturnal cramps: a pilot study

Sleep Science, 2022
Introduction: Chronic pain, nocturnal cramps, and sleep alterations are prevalent symptoms and signals in Charcot-Marie-Tooth disease patients. Sleep and pain are bidirectionally related and physical therapy can improve the binomial sleep and pain ...
Cynthia Coelho Souza, Julia Ribeiro da Silva Vallim, Eduardo Luis de Aquino Neves, Paula Santos Nunes, Iandra Maria Pinheiro de França Costa, Lidiane Carine Lima Santos Barreto, Catarina Andrade Garcez, Adriano Antunes de Souza Araujo   +7 more
doaj   +1 more source

Severity of Demyelinating and Axonal Neuropathy Mouse Models Is Modified by Genes Affecting Structure and Function of Peripheral Nodes

Cell Reports, 2017
Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of inherited polyneuropathies. Mutations in 80 genetic loci can cause forms of CMT, resulting in demyelination and axonal dysfunction.
Kathryn H. Morelli, Kevin L. Seburn, David G. Schroeder, Emily L. Spaulding, Loiuse A. Dionne, Gregory A. Cox, Robert W. Burgess   +6 more
doaj   +1 more source

Vestibular impairment in Charcot–Marie–Tooth disease

Journal of Neurology, 2020
To find out if Charcot-Marie-Tooth (CMT) patients, who have peripheral vestibular as well as peripheral somatosensory impairment, have worse postural balance than those who do not.We studied 32 patients with various CMT phenotypes and genotypes. Vestibular function was measured with the video head impulse test (vHIT) which tests vestibulo-ocular reflex
Gülden Akdal, Koray Koçoğlu, Tural Tanrıverdizade, Elçin Bora, Fikret Bademkıran, Ayşe Nur Yüceyar, Özgül Ekmekçi, İhsan Şükrü Şengün, Hatice Karasoy   +8 more
openaire   +8 more sources

Bi‐ and Mono‐Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective RFC1 biallelic repeat expansion is increasingly recognized as a cause of chronic idiopathic axonal polyneuropathy (CIAP), but it remains challenging to know who to test. This study aims to determine the prevalence of biallelic and monoallelic RFC1 expansions and their corresponding neuropathy phenotypes in CIAP patients and identify ...
Amro M. Stino, Lavanya Muthukumar, Evan L. Reynolds, Peter Todd, Sinem Ovunc, Sheng Chih Jin, Zitian Tang, Simone Thomas, PNRR Study Group, Ahmet Höke, Brian C. Callaghan, Sarah Berth, Vinay Chaudhry, David Cornblath, Leana Doherty, Lindsey Hayes, Hristelina Ilieva, Thomas Lloyd, Mohammad Khoshnoodi, Brett McCray, Brett Morrison, Bipasha Mukherjee‐Clavin, Lyle Ostrow, Michael Polydefkis, Ricardo Roda, Charlotte Sumner   +25 more
wiley   +1 more source

Ascorbic Acid in Charcot-Marie-Tooth Disease

Pediatric Neurology Briefs, 2009
Ascorbic acid has been shown to reduce demyelination and improve muscle function in a transgenic mouse model of Charcot-Marie-Tooth disease (CMT1A).
J Gordon Millichap
doaj   +1 more source

From Chatbots to Co‐Scientists: The Impact of Knowledge‐Generating AI (AI 4.0) on Healthcare and Research

Advanced Science, EarlyView.
This perspective contrasts the historical, linear progression of early AI with the dynamic, iterative nature of AI 4.0; and it describes the real‐world medical applications and the necessary evolution of laboratory infrastructure brought about by AI 4.0.
Weida Liu, Gary Peltz
wiley   +1 more source

ATL2 Recruits TRAK1 to Promote Mitochondrial Transport at ER–Mitochondria Contact Sites

Advanced Science, EarlyView.
ABSTRACT Mitochondrial transport and distribution are crucial for cellular homeostasis, yet whether and how they are regulated by endoplasmic reticulum (ER)–mitochondria contact sites remains unclear. Here, we demonstrate that the ER protein atlastin‐2 (ATL2) orchestrates mitochondrial transport and distribution by promoting assembly of the transport ...
Yiru Cheng, Peiyuan Chai, Xiayuhe Pei, Yiwen Chen, Xiaoshuai Huang, Bei Liu, Yiqian Wu, Junlin Teng, Pengli Zheng, Jianguo Chen   +9 more
wiley   +1 more source

Noninvasive ventilation and laser-assisted unilateral posterior cordotomy as novel multidisciplinary approaches for Charcot–Marie–Tooth disease 4B vocal cord paralysis: a case report

Journal of Medical Case Reports
Background Charcot–Marie–Tooth disease (CMT) is one of the most common inherited neuropathies. The disease is generally characterized by sensory loss most prominent in distal extremities, muscle weakness, and muscle wasting.
Seyed Ahmad Tabatabaii, Joben Kianparsa, Mohammad Hossein Golkhani Zavareh, Abolfazl Khosravi, Amir Reza Bahadori, Nazanin Farahbakhsh   +5 more
doaj   +1 more source

Pregnancy in Charcot-Marie-Tooth disease

Journal of Obstetrics and Gynaecology, 2006
A 22-year-old woman, known to have Charcot-Marie-Tooth (CMT) disease, was booked at 9 weeks of her first pregnancy. Her grandmother, mother and two brothers all had CMT disease.
A, Basu, S, Al-Shenar, S, Ray
openaire   +2 more sources