Results 71 to 80 of about 29,182 (218)

Gait Parameters Alterations Under Dual‐Task Conditions in Patients With Acquired and Hereditary Peripheral Neuropathies

European Journal of Neurology, Volume 33, Issue 3, March 2026.
ABSTRACT Introduction Peripheral demyelinating neuropathies impair gait and increase fall risk, particularly under cognitively demanding conditions. While gait disturbances in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and Charcot–Marie–Tooth disease type 1A (CMT1A) are well documented, their differential responses to cognitive ...
Loïc Dupont, Romain Thomas, Loïc Danjoux, Madeline Cailleret, Jean‐Baptiste Davion, Luc Defebvre, Arnaud Delval, Céline Tard   +7 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

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

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy. [PDF]

, 2019
Aminoacyl-tRNA synthetases (ARSs) function to transfer amino acids to cognate tRNA molecules, which are required for protein translation. To date, biallelic mutations in 31 ARS genes are known to cause recessive, early-onset severe multi-organ diseases ...
Accogli, Andrea, Ben-Omran, Tawfeg, Bernard, Geneviève, Chowdhury, Shimul, Crawford, John R, Dimmock, David, Friedman, Jennifer, Gleeson, Joseph G, Guerrero, Kether, Hildreth, Amber, Issa, Mahmoud Y, James, Kiely N, Kingsmore, Stephen F, Koehler, Alanna E, Lo, Wing-Sze, Mendes, Marisa I, Musaev, Damir, Nahas, Shareef, Omar, Tarek EI, Salomons, Gajja S, Smith, Desiree E, Stanley, Valentina, Tran, Luan T, Wang, Rengang, Wigby, Kristen, Wright, Meredith S, Xu, Zhiwen, Zaki, Maha S, Zhai, Liting   +28 more
core   +2 more sources

Development and Validation of a Visual Grading Score of Disease Severity From Gait Videos in Genetic Peripheral Neuropathy

European Journal of Neurology, Volume 33, Issue 3, March 2026.
The Clinical Eye Score (CES) is a score to grade disease severity in peripheral neuropathy visually from videos of patients walking. It correlates strongly with state‐of‐the‐art outcome measures for peripheral neuropathy in patients with CMT. Therefore, it may provide a solution for digital or remote follow‐up examinations for adult patients with ...
Helena F. Pernice, Emanuele Piazza, Eleonora Asaad, Paul J. Wetzel, Katrin Hahn   +4 more
wiley   +1 more source

ANESTHESIA AND DELIVERY IN PREGNANT PATIENTS WITH SYNDROMA CHARCOT-MARIE-TOOTH-HOFFMAN [PDF]

, 2010
Pacijenti sa Charcot-Marie-Tooth-Hoffman sindromom, posebno trudnice, zaslužuju veliku pozornost kada je riječ o anesteziji. Odabir anesteziološke medikacije i tehnike prije svega je uvjetovan nepredvidvim odgovorom bolesnika na primjenu anestetičnih ...
Dunja Anzulović, Marija Matas, Sandra Fudurić, Slobodan Mihaljević, Valentina Zulić   +4 more
core   +1 more source

Glutathione-conjugating and membrane-remodeling activity of GDAP1 relies on amphipathic C-terminal domain [PDF]

, 2016
Mutations in the ganglioside-induced differentiation associated protein 1 (GDAP1) cause severe peripheral motor and sensory neuropathies called Charcot-Marie-Tooth disease.
Berger, Imre, Bieniossek, Christoph, Elsässer, Hans-Peter, Huber, Nina, Niemann, Axel, Suter, Ueli, Wagner, Konstanze Marion   +6 more
core   +2 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

Rapid Identification of Pathogenic Variants in Two Cases of Charcot-Marie-Tooth Disease by Gene-Panel Sequencing [PDF]

, 2017
published_or_final_versio
Ho, C, Lee, EC, Liu, TK, Mak, SHT, Poon, WT, Tai, S, Tang, VW   +6 more
core   +2 more sources

Cranial Nerve Involvement With Diplopia as Presenting Feature of CMT1H Caused by Recurring FBLN5 Variant

Journal of the Peripheral Nervous System, Volume 31, Issue 1, March 2026.
ABSTRACT Background and Aims CMT1H is a rare, autosomal dominant, demyelinating subtype of CMT caused by variants in FBLN5. Symptomatic cranial nerve involvement has never been reported in patients with CMT1H. Case Report We report a 45‐year‐old woman with a history of long‐standing diplopia.
Georgios Koutsis, Zoi Kontogeorgiou, Charalampos Tzempetzis, Nikolaos Ragazos, Evgenia Efthymiou, Chrisoula Kartanou, Chrysoula Koniari, Nikolaos Giagkou, Klio Chatzistefanou, Georgios Velonakis, Georgia Karadima, Vasiliki Zouvelou   +11 more
wiley   +1 more source