Results 81 to 90 of about 30,474 (227)

The LITAF/SIMPLE I92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseases [PDF]

, 2014
Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) represent the most common heritable neuromuscular disorders.
Andressa Ferreira Lacerda, Andrzej Kochański, Anna Kostera-Pruszczyk, Anna Potulska-Chromik, Beata Sokołowska, Craig R. Brunetti, Dagmara Kabzińska, Elena Sinkiewicz-Darol, Irena Hausmanowa-Petrusewicz   +8 more
core   +1 more source

Expanding the Genotype and Phenotype Diversity in a Chinese Cohort With TRPV4‐Related Dysplasia

Clinical Genetics, Volume 109, Issue 4, Page 796-802, April 2026.
Exploring the genotype and phenotype diversity in a Chinese cohort with TRPV4‐related dysplasia. ABSTRACT Dominant mutations in the calcium permeable ion channel TRPV4 (transient receptor potential vanilloid 4) typically result in skeletal dysplasia or peripheral neuromuscular disease.
Lina Dong, Kwan Chun Ho, Zhijia Tan, Yanni He, Yapeng Zhou, Shijie Yin, Lin Feng, Janus Siu Him Wong, Michael Kai Tsun To   +8 more
wiley   +1 more source

Charcot‐Marie‐Tooth disease in children

Annals of the Child Neurology Society
Charcot‐Marie‐Tooth (CMT) disease represents a diverse group of inherited neuropathies with a broad spectrum of symptoms. It is the most prevalent inherited neuropathy, with an estimated prevalence ranging from 9.7 to 82 cases per 100,000 individuals ...
Ezgi Saylam, Praveen Kumar Ramani, Ruthwik Duvuru, Brett Haley, Aravindhan Veerapandiyan   +4 more
doaj   +1 more source

Charcot–Marie–Tooth disease: Genetics, epidemiology and complications [PDF]

, 2017
Background and aims: Charcot Marie Tooth disease (CMT) is the most prevalent hereditary neuropathy and its frequency is 1 in 2500. CMT is a heterogeneous disease and has different clinical symptoms.
Ahmadinejad, Fereshteh., Jami, Mohammad-Saeid., Maghsoudi, Reza., Pourhadi, Masoumeh.   +3 more
core  

Differential negative dominance by KCNA2 variants associated with global developmental delay suggests KCNA2 haploinsufficiency in humans

The Journal of Physiology, Volume 604, Issue 8, Page 3413-3430, 15 April 2026.
Abstract figure legend Potassium‐selective KV1.2 channels are encoded by the KCNA2 gene and regulate electrical signalling in neurons. KCNA2 genetic variants are associated with epileptic and developmental encephalopathy. We characterized two variants that subtly alter the channel's amino acid composition, p.H310D and p.G318D.
Pei Xin Boon, Amaia Jauregi‐Miguel, S. Suheda Yasarbas, Serena Pozzi, Urban Karlsson, Ammar Husami, Charmaine Ko, Amelle Shillington, Antonios Pantazis   +8 more
wiley   +1 more source

Charcot-Marie-Tooth Disease Subtypes and Genetics

Pediatric Neurology Briefs, 2011
Researchers at Wayne State University School of Medicine, Detroit, MI, identified distinguishing clinical and physiological features of subtypes of Charcot-Marie-Tooth (CMT) disease among 787 patients that could be used to direct genetic testing.
J Gordon Millichap
doaj   +1 more source

Auditory Neuropathy: Challenges and Significant Progress in Diagnosis and Treatment

Advanced Therapeutics, Volume 9, Issue 3, March 2026.
Auditory neuropathy is a complex disorder that causes sensorineural hearing impairment in patients. Recently, breakthrough progress has been made in the gene therapy of auditory neuropathy. This review focuses on auditory neuropathy, covering its pathophysiology, etiology, epidemiology, clinical manifestations, diagnostic techniques, treatment ...
Wen Xie, Ling Lu, Busheng Tong, Lian Fang, Qingqing Dai, Xiaowan Chen, Jieyu Qi, Xiaoyun Qian, Xia Gao, Renjie Chai, Jun Yang, Maoli Duan   +11 more
wiley   +1 more source

CHARCOT-MARIE-TOOTH DISEASE

Zdravniški Vestnik, 2003
Background. Charcot-Marie-Tooth (CMT) disease is a common inherited disorder of the peripheral nervous system. In our paper, different types of CMT are described with their typical clinical pictures, electrophysiological signs and molecular genetic ...
Lea Leonardis, Janez Zidar, Borut Peterlin   +2 more
doaj  

Rehabilitation in Charcot-Marie-Tooth disease type 1

Advances in Clinical Neuroscience & Rehabilitation, 2014
Charcot-Marie-Tooth disease is the most common inherited peripheral neuropathy with a prevalence of approximately 1 in 2,500 [1]. The most common subtype is the autosomal dominant type 1A, which is caused by an intrachromosomal duplication on chromosome ...
Manoj Mannil, Chandini Kadian, Elisabeth Futterlieb, Michael W Sereda   +3 more
doaj   +1 more source

Prevalence and orthopedic management of foot and ankle deformities in Charcot Marie Tooth disease [PDF]

, 2006
Introduction/Aims: We aimed to determine whether specific severe acute respiratory syndrome coronavirus 2 (SARS-CoV2) vaccines may be associated with acute-onset polyradiculoneuropathy and if they may result in particular clinical presentations. Methods:
Aagaard, Abbot, Allen, Babault, Behm, Behm, Behm, Belanger, Bigland-Ritchie, Blimkie, Carolan, Deschenes, Gandevia, Gossen, Guissard, Herbert, Jewell, Kellis, Kent-Braun, Klein, Krevolin, Kubo, Lipold, Loring, Maganaris, Martin, Merton, Muraoka, Newman, Onambele, Pearson, Pearson, Reeves, Reeves, Todd, Yehuda   +35 more
core   +4 more sources