Results 61 to 70 of about 29,182 (218)

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

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

Pathogenic genes of autosomal dominant Charcot⁃Marie⁃Tooth disease in a Chinese pedigree

Chinese Journal of Contemporary Neurology and Neurosurgery, 2010
Objective To analyse the location of pathogenic genes of autosomal dominant Charcot⁃Marie⁃Tooth disease (CMT, peroneal atrophy) in a Chinese pedigree.
Shun⁃chang SUN, Wei⁃dong CHEN, Zhi⁃jian LIN, Jing⁃bo HE, Yun⁃sheng PENG   +4 more
doaj  

Research Trends and Insights of Charcot–Marie–Tooth Disease (CMT): A Visualization Analysis (2000–2025)

Health Science Reports, Volume 9, Issue 3, March 2026.
ABSTRACT Background and Aims The Charcot–Marie–Tooth disease (CMT) comprises genetically diverse motor and sensory neuropathies. This study aims to conduct a comprehensive investigation into the current academic and clinical status of CMT, thereby providing researchers with an extensive understanding of the research landscape and analysis of prevailing
Lanxiao Cao, Yang Liu, Jiaxin Li, Xiaoping Xia, Guohua Zhao   +4 more
wiley   +1 more source

Charcot-Marie-Tooth 1A concurrent with anaplastic ependymoma in a toddler: when an acute event unmasks a chronic condition

The Turkish Journal of Pediatrics, 2019
We report a 14-month-old toddler admitted to the Pediatric Oncology Department after surgical resection of supratentorial anaplastic ependymoma. The child was treated with International Society of Pediatric Oncology Ependymoma II 2015 chemotherapy ...
Maria Gogou, Efterpi Pavlidou, Evangelos Pavlou, Theodotis Papageorgiou, Athanasios Tragiannidis, Andreas Giannopoulos, Emmanuel Hatzipantelis   +6 more
doaj   +1 more source

Implementing a Tiered Genetic Testing Strategy for Muscular Dystrophies in Morocco: From Targeted Assays to Exome Sequencing

Molecular Genetics &Genomic Medicine, Volume 14, Issue 3, March 2026.
Targeted routine testing combined with NGS approaches enabled effective genetic diagnosis of muscular dystrophies in Moroccan patients, with nearly half of cases resolved by first‐line testing and additional diagnoses obtained through targeted sequencing and whole‐exome sequencing.
Yasmina Rahmuni, Ilham Ratbi, Jaber Lyahyai, Imane Cherkaoui Jaouad, Ourayna Batta, Aziza Sbiti, Maryem Sahli, Omar Askander, Zineb Rchiad, Abdelaziz Sefiani   +9 more
wiley   +1 more source

Charcot-Marie-Tooth Disease Type 1A: Axonal Lesions

Pediatric Neurology Briefs, 2000
The clinical and electrophysiological phenotype in 42 patients with Charcot-Marie-Tooth disease type 1A (CMT1A) were analysed at Wayne State University, Detroit, MI.
J Gordon Millichap
doaj   +1 more source

The endoplasmic reticulum in mitochondrial protein targeting: A neuronal perspective on organelle crosstalk

Protein Science, Volume 35, Issue 3, March 2026.
Abstract Neurons depend on tightly regulated spatial proteostasis to maintain function across their extended morphology. The endoplasmic reticulum (ER), traditionally known for its function in protein synthesis, folding, and trafficking, has long been recognized as a central platform for directing proteins to organelles of the secretory and endocytic ...
J. Tabitha Hees, Angelika B. Harbauer
wiley   +1 more source

Genetics of Charcot-Marie-Tooth Disease

Pediatric Neurology Briefs, 1998
The nomenclature, classification, and genetic basis of Charcot-Marie-Tooth (CMT) disease are reviewed from the Department of Molecular and Cell Biology, University of Aberdeen Medical School, Scotland.
J Gordon Millichap
doaj   +1 more source

Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1) [PDF]

, 2017
OBJECTIVE: To extend the phenotypic description of Charcot-Marie-Tooth disease (CMTX1) and to draw new genotype-phenotype relationships. METHODS: Mutations in GJB1 cause the main X-linked form of CMTX (CMTX1).
Burns, J, Day, J, Herrmann, DN, Horvath, R, Inherited Neuropathies Consortium—Rare Diseases Clinical Researc,, Laura, M, Lewis, RA, Li, J, Panosyan, FB, Pareyson, D, Pisciotta, C, Piscosquito, G, Reilly, MM, Rossor, AM, Scherer, SS, Shy, ME, Yum, SW   +16 more
core   +1 more source