Results 51 to 60 of about 30,474 (227)

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

Restless Legs Syndrome in Patients With PMP22‐Related Neuropathies

Journal of the Peripheral Nervous System, Volume 31, Issue 2, June 2026.
ABSTRACT Background and Aims Restless legs syndrome (RLS) is frequently reported in peripheral neuropathies, but its prevalence and clinical correlates in Charcot–Marie–Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) remain poorly defined.
Bogdan Bjelica, Milorad Vujnic, Milica Vukojevic, Ivo Bozovic, Nikola Andrejic, Ivana Basta, Vidosava Rakocevic‐Stojanovic, Stojan Peric   +7 more
wiley   +1 more source

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
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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

Mitofusins and OPA1 Mediate Sequential Steps in Mitochondrial Membrane Fusion [PDF]

, 2009
Mitochondrial fusion requires the coordinated fusion of the outer and inner membranes. Three large GTPases—OPA1 and the mitofusins Mfn1 and Mfn2—are essential for the fusion of mammalian mitochondria.
David C. Chan, J. Michael Mccaffery, Janet M. Shaw, Mariam Ghochani, Terrence G. Frey, Zhiyin Song   +5 more
core   +2 more sources

Chronic Inflammatory Demyelinating Polyneuropathy (CIDP): A Comprehensive Review of Types, Pathophysiology, and Treatment Approaches

Brain and Behavior, Volume 16, Issue 5, May 2026.
Chronic inflammatory demyelinating polyneuropathy is an autoimmune disorder causing demyelination, leading to distal weakness, sensory loss, and autonomic dysfunction. Immune activation triggers macrophage‐mediated myelin damage and conduction failure.
Ayesha Khan, Arsal Khan, Kuldeep Dalpat Rai, Anzel Saeed, Harsh Kumar, Aneesh Kumar Sangtiani, Tehreem Fatima, Muhammad Tanveer Alam, Faiza Rajput, Sakshi Chawla, Hussain Haider Shah, Humaira Kalam   +11 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
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Pregnancy and delivery in patients with Charcot-Marie-Tooth disease and related disorders [PDF]

, 2023
BACKGROUND: Charcot–Marie–Tooth disease is the most common inherited peripheral neuropathy and many patients with Charcot–Marie–Tooth are women of childbearing age. Guidelines for managing pregnancy in Charcot–Marie–Tooth are lacking. AIMS: To assess the
Byrne, Bridgette, Laura, Matilde, Ramdharry, Gita, Reilly, Mary M, Skorupinska, Mariola   +4 more
core  

Aminoacyl‐tRNA Synthetases: Variant Classification, Functional Assays, and Emerging Therapeutic Strategies

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Aminoacyl‐tRNA synthetases (aaRS) are essential enzymes that charge tRNAs with their corresponding amino acids, playing a critical role in protein synthesis. All 37 nuclear‐encoded ARS genes, comprising both cytosolic (ARS1) and mitochondrial (ARS2) isoforms, have now been linked to human disease.
M. I. Mendes, D. E. Smith, V. Spek, A. M. Bosch, W. E. Corpeleijn, M. Engelen, S. A. Fuchs, A. Hadchouel, I. U. Heinemann, R. H. Houtkooper, E. M. M. Hoytema van Konijnenburg, S. Kemp, M. Langeveld, C. D. M. Karnebeek, A. Pop, V. M. Siu, N. I. Wolf, G. S. Salomons   +17 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
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