Results 51 to 60 of about 30,318 (229)

Associação na mesma família das doenças de Charcot-Marie-Tooth e de Friedreich Association of Charcot-Marie-Tooth and Friedreich diseases in a family

Arquivos de Neuro-Psiquiatria, 1972
Quatro irmãos com moléstias de Charcot-Marie-Tooth são estudados do ponto de vista clínico e genético. São ressaltadas, mediante análise da sintomatologia, as formas de transição no grande grupo de moléstias heredodegenerativas, sendo atribuída ...
Charles Peter Tilbery, Décio Cassiani Altimari, Luiz G. Gagliardi-Ferreira, José L. Alonso Nieto   +3 more
doaj  

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

Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease [PDF]

, 2016
IMPORTANCE: Disease severity of childhood Charcot-Marie-Tooth disease (CMT) has not been extensively characterized, either within or between types of CMT to date.
Bhandari, T, Bray, P, Burns, J, Cornett, KM, Eichinger, KJ, Estilow, T, Finkel, RS, Foscan, M, Halaki, M, Herrmann, DN, Inherited Neuropathies Consortium, Laurá, M, Menezes, MP, Moroni, I, Muntoni, F, Pagliano, E, Pareyson, D, Reilly, MM, Shy, ME, Shy, RR, Sowden, J, Yum, SW   +21 more
core   +1 more source

The return of metabolism: biochemistry and physiology of glycolysis

Biological Reviews, Volume 101, Issue 2, Page 751-803, April 2026.
ABSTRACT Glycolysis is a fundamental metabolic pathway central to the bioenergetics and physiology of virtually all living organisms. In this comprehensive review, we explore the intricate biochemical principles and evolutionary origins of glycolytic pathways, from the classical Embden–Meyerhof–Parnas (EMP) pathway in humans to various prokaryotic and ...
Nana‐Maria Grüning, Federica Agostini, Camila Caldana, Johannes Hartl, Matthias Heinemann, Markus A. Keller, Jan Lukas Krüsemann, Costanza Lamperti, Carole L. Linster, Steffen N. Lindner, Julia Muenzner, Jens Nielsen, Zoran Nikoloski, Bettina Siebers, Jacky L. Snoep, Hezi Tenenboim, Bas Teusink, Spencer J. Williams, Mirjam M. C. Wamelink, Markus Ralser   +19 more
wiley   +1 more source

From in vivo models to in vitro bioengineered neuromuscular junctions for the study of Charcot-Marie-Tooth disease

Journal of Tissue Engineering
Peripheral neuropathies are disorders affecting the peripheral nervous system. Among them, Charcot-Marie-Tooth disease is an inherited sensorimotor neuropathy for which no effective treatment exists yet.
Camille Scherrer, Camille Loret, Nicolas Védrenne, Colman Buckley, Anne-Sophie Lia, Vincent Kermene, Franck Sturtz, Frédéric Favreau, Amandine Rovini, Pierre-Antoine Faye   +9 more
doaj   +1 more source

Connexin32 and X-linked Charcot–Marie–Tooth Disease

Neurobiology of Disease, 1997
Mutations in the gap junction geneconnexin32(Cx32) cause the X-linked form of Charcot–Marie–Tooth disease, an inherited demyelinating neuropathy. More than 130 different mutations have been described, affecting all portions of the Cx32 protein.
Linda Jo Bone, Suzanne M. Deschênes, Rita J. Balice-Gordon, Kenneth H. Fischbeck, Steven S. Scherer   +4 more
doaj   +1 more source

Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1 [PDF]

, 2015
Spinal muscular atrophy with respiratory distress (SMARD1) is an autosomal recessive neuromuscular disease caused by mutations in the IGHMBP2 gene, encoding the immunoglobulin μ-binding protein 2, leading to motor neuron degeneration.
Corti, Stefania, Parente, Valeria, Porro, Francesca, Rinchetti, Paola, Vanoli, Fiammetta   +4 more
core   +2 more sources

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

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  

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