Results 61 to 70 of about 30,367 (239)

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

Structural and functional dissection of the WH2/DAD motif of INF2, a formin linked to human inherited degenerative disorders

The FEBS Journal, EarlyView.
The INF2 WH2/DAD domain, composed of hydrophobic and basic regions, forms a single α‐helix in solution. The hydrophobic segment is essential for INF2 function, as its deletion disrupts actin dynamics and causes nuclear abnormalities, like those seen in pathogenic INF2 DID variants. In contrast, natural INF2 WH2/DAD variants found in patients with renal
Leticia Labat‐de‐Hoz, Laura Fernández‐Martín, Paula Morales, Isabel Correas, María Ángeles Jiménez, Miguel Angel Alonso   +5 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  

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

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

Canonical and non‐canonical functions of proteins regulating mitochondrial dynamics in mammalian physiology

The Journal of Physiology, EarlyView.
Abstract figure legend Mitochondria are highly dynamic organelles that continuously remodel their architecture through coordinated cycles of fusion and fission. This review examines the four key GTPases that orchestrate mitochondrial dynamics in mammals: MFN1, MFN2, OPA1, and DRP1.
Rémi Chaney, Vincent Marcangeli, Krystel Desjardins, Shima Taherkhani, Gilles Gouspillou   +4 more
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

Upgrade on the orthopedic approach in Charcot-Marie-Tooth diseases [PDF]

, 2018
[Resumen] Objetivos Este artículo pretende ofrecer una síntesis acerca de las principales características de la intervención y abordaje de las complicaciones del pie en personas afectadas por las enfermedades de Charcot-Marie-Tooth.
Garabal-Barbeira, Jessica, Groba, Betania, Nieto-Riveiro, Laura, Pazos, A., Pereira-Loureiro, Javier, Pousada, Thais   +5 more
core   +3 more sources

Broadening the Clinical Spectrum of Axonal Hereditary Neuropathies: A Comparative Case Study on DNAJB2‐ and HINT1‐Related Disease

Journal of the Peripheral Nervous System, Volume 31, Issue 1, March 2026.
ABSTRACT Background and Aims Differentiating hereditary axonal polyneuropathies caused by distinct gene variants remains a clinical challenge. This comparative case study of DNAJB2‐ and HINT1‐related neuropathies aimed to broaden the phenotypic spectrum associated with these genes and to explore non‐motor symptoms and quality of life (QoL) in affected ...
Bogdan Bjelica, Corinna Hendrich, Sandra von Hardenberg, Milica Vukojevic, Sonja Körner, Thomas Gschwendtberger, Aiden Haghikia, Stojan Peric, Susanne Petri   +8 more
wiley   +1 more source

Establishment of a human induced pluripotent stem cell (iPSC) line (JUCTCi018-A) from a patient with Charcot-Marie-Tooth disease type 2EE (CMT2EE) due to a homozygous c.122G > A p.(Arg41Gln) mutation in the MPV17 gene

Stem Cell Research
(Charcot-Marie-Tooth disease (CMT) is a genetic disorder affecting peripheral nerves. The human induced pluripotent stem cell (iPSC) line JUCTCi018-A was created using dermal fibroblasts from a Charcot-Marie-Tooth disease type 2EE (CMT2EE) patient with a
Nidaa A. Ababneh, Raghda Barham, Ban Al-Kurdi, Sabal Al Hadidi, Dema Ali, Ahmed A. Abdulelah, Adan Madadha, Amira Masri, Abdalla Awidi   +8 more
doaj   +1 more source