Results 21 to 30 of about 6,888,845 (215)

Cochlear implantation in patient with Charcot-Marie-Tooth disease [PDF]

, 2021
Two patients with auditory neuropathy spectrum disorder (ANSD) considered to be associated with Charcot-Marie-Tooth (CMT) are reported. In case 1, a 23-year-old man presented with progressive bilateral sensorineural hearing loss (SNHL) from 10 years of ...
Sone, Michihiko, Kobayashi, Masumi, Hara, Daisuke, Sugimoto, Satofumi, Kimata, Yukari, Teranishi, Masaaki, Yoshida, Tadao   +6 more
core   +1 more source

Clinical Development of Therapies for Charcot-Marie-Tooth Disease: Recommendations for Trial Design, Endpoints, and Regulatory Pathways. [PDF]

J Peripher Nerv Syst
ABSTRACT Charcot–Marie–Tooth disease (CMT) encompasses a heterogeneous group of inherited peripheral neuropathies. Despite being the most common genetic neurological condition, individual CMT subtypes are rare, presenting unique challenges for therapeutic development.
Abrams CK, Bruhn S, Burns J, Fleming R, Forsey K, Fridman V, Herrmann DN, Lin B, McCune S, Moore A, Ruediger S, Shy M, Strom S, ToPIC:CMT Steering Committee.   +13 more
europepmc   +2 more sources

Charcot-Marie-Tooth Disease With Cerebellar Atrophy

, 2000
We report on, 1 36-year-old man of Swedish descent who had teenage onset of a progressive disorder with features of Charcot-Marie-Tooth disease (CMT) and cerebellar ataxia. Cognition was normal. The polyneuropathy was of axonal type.
Olsson, Yngve,, Raininko, Raili,, Melberg, Atle,, Stålberg, Erik,, Dahl, Niklas,   +4 more
core   +8 more sources

The causes of Charcot-Marie-Tooth disease [PDF]

Cellular and Molecular Life Sciences (CMLS), 2003
Charcot-Marie-Tooth (CMT) disease serves as the summary term for the most frequent forms of inherited peripheral neuropathies that affect motor and sensory nerves. In the last 12 years, 14 genes have been identified that cause different CMT subforms.
Young, P., Suter, U.
openaire   +3 more sources

Particular aspects of myelin-axon interactions in health and disease : the expression of myelin-associated glycoprotein isoforms in CNS and PNS. Early axonal pathology in the dysmyelinating peripheral neuropathy CMT1A [PDF]

, 2007
An intact myelin sheath is crucial for the rapid propagation of action potentials along myelinated axons. There are many neurodegenerative diseases associated with defect myelin sheaths resulting in severe clinical symptoms such as multiple sclerosis ...
Flück, Bettina
core   +1 more source

A Rasch Analysis of the Charcot-Marie-Tooth Neuropathy Score (CMTNS) in a Cohort of Charcot-Marie-Tooth Type 1A Patients. [PDF]

PLoS ONE, 2017
The Charcot-Marie-Tooth Neuropathy Score (CMTNS) was developed as a main efficacy endpoint for application in clinical trials of Charcot-Marie-Tooth disease type 1A (CMT1A).
Wenjia Wang, Mickaël Guedj, Viviane Bertrand, Julie Foucquier, Elisabeth Jouve, Daniel Commenges, Cécile Proust-Lima, Niall P Murphy, Olivier Blin, Laurent Magy, Daniel Cohen, Shahram Attarian   +11 more
doaj   +1 more source

Whole-exome sequencing detected a novel AIFM1 variant in a Han-Chinese family with Cowchock syndrome

Hereditas, 2023
Charcot-Marie-Tooth disease(CMT) is a hereditary peripheral neuropathy, characterized by progressive distal hypoesthesia and amyotrophia. CMT is characterized by an X- linked recessive inheritance pattern.
Chenyu Wang, Zhaojing Lin, ZhuangZhuang Yuan, Tieyu Tang, Liangliang Fan, Yihui Liu, Xuan Wu   +6 more
doaj   +1 more source

Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2)

BMC Medical Genetics, 2006
Background Charcot-Marie-Tooth neuropathies are a group of genetically heterogeneous diseases of the peripheral nervous system. Mutations in the MFN2 gene have been reported as the primary cause of Charcot-Marie-Tooth disease type 2A.
Haas Gerhard, Hagedorn Michaela, Vorgerd Matthias, Engelfried Kathrin, Gilles Jürgen, Epplen Jörg T, Meins Moritz   +6 more
doaj   +1 more source

GJB1 Gene Analysis in Two Extended Families with X-Linked Charcot-Marie-Tooth Disease

Case Reports in Neurology, 2021
X-linked Charcot-Marie-Tooth (CMT) disease type I (CMTX1) is the second most frequent type of CMT disease caused by pathogenic variants in the GJB1 gene.
Sabine Kovale, Ruta Terauda, Elina Millere, Gita Taurina, Daiga Murmane, Jekaterina Isakova, Viktorija Kenina, Linda Gailite   +7 more
doaj   +1 more source

Mutant glycyl-tRNA synthetase (Gars) ameliorates SOD1G93A motor neuron degeneration phenotype but has little affect on Loa dynein heavy chain mutant mice [PDF]

, 2009
Background: In humans, mutations in the enzyme glycyl-tRNA synthetase (GARS) cause motor and sensory axon loss in the peripheral nervous system, and clinical phenotypes ranging from Charcot-Marie-Tooth neuropathy to a severe infantile form of spinal ...
Hazel P Williams, Greensmith Linda, Francesca Achilli, Ruth Chia, Elizabeth M. C. Fisher, Hazel P. Williams, Fisher Elizabeth M. C., Achilli, F., Chia, R, Bryson, J.B., Bros-Facer, V., Greensmith, L., Bros-Facer, V, Banks, G.T., Bryson, JB, Banks, GT, Fisher, EMC, Bros-Facer Virginie, Linda Greensmith, Fisher, E.M.C., Banks Gareth T., Chia, R., Gareth T Banks, Williams, HP, Greensmith, L, Williams Hazel P., Elizabeth M C Fisher, J Barney Bryson, Gareth T. Banks, Virginie Bros-Facer, Achilli Francesca, Williams, H.P., Bryson J. Barney, Chia Ruth, J. Barney Bryson, Achilli, F   +35 more
core   +1 more source