Results 81 to 90 of about 30,367 (239)

Longitudinal reference centiles for the Gross Motor Function Measure‐66 in children and adolescents with cerebral palsy

Developmental Medicine &Child Neurology, Volume 68, Issue 2, Page 218-226, February 2026.
(a) Shows a three‐dimensional diagram of the mean GMFM‐66 score difference (after 6 month) as a function of the patient's age (in years) and the initial value of the GMFM‐66 score. (b) Shows a three‐dimensional diagram of the standard deviation of the GMFM‐66 score difference as a function of the patient's age (in years) and the initial value of the ...
Ibrahim Duran, Leonie Schafmeyer, Bruno Lentzen, Karoline Spiess, Titus Keller, Kyriakos Martakis, Eckhard Schoenau   +6 more
wiley   +1 more source

POLG1 Mutations and Charcot-Marie-Tooth Disease

Pediatric Neurology Briefs, 2008
A 35-year-old man first diagnosed with autosomal recessive Charcot-Marie-Tooth disease type 2 at 22 years of age had an abnormal gait and pes cavus at age 10 years.
J Gordon Millichap
doaj   +1 more source

A Rare Case of Charcot-Mari-Tooth Disease Type 2S in a 20-year-old Man [PDF]

International Journal of Biomedicine, 2017
Charcot-Marie-Tooth disease type 2 (CMT2S) is rare form of Charcot-Marie-Tooth disease (CMT) that is characterized by a mutation in the IGHMBP2 gene. This gene encodes a helicase superfamily member that binds a specific DNA sequence from the region of ...
Natalia A. Shnayder, Olga V. Petryaeva, Ivan P. Artyuhov, Margarita R. Sapronova, Irina O. Loginova   +4 more
doaj   +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

A nonsense mutation inMMEgene associates with autosomal recessive late‐onsetCharcot–Marie–Toothdisease [PDF]

, 2022
Zeinab Jamiri, Rana khosravi, Mohammad Heidari, Ebrahim Kiani, Javad Gharechahi   +4 more
openalex   +1 more source

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis [PDF]

, 2014
BACKGROUND: The international Inherited Neuropathy Consortium (INC) was created with the goal of obtaining much needed natural history data for patients with Charcot-Marie-Tooth (CMT) disease.
Bacon, C, Bundy, B, Burns, J, Day, J, Feely, S, Finkel, RS, Fridman, V, Grider, T, Herrmann, DN, Kirk, CA, Laurá, M, Li, J, Lloyd, T, Moroni, I, Muntoni, F, Pagliano, E, Pareyson, D, Piscosquito, G, Ramchandren, S, Reilly, MM, Scherer, SS, Shy, ME, Shy, R, Siskind, CE, Sumner, CJ, Yum, SW, Zuchner, S   +26 more
core   +1 more source

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy [PDF]

, 2015
OBJECTIVE To expand the clinical phenotype of autosomal dominant congenital spinal muscular atrophy with lower extremity predominance (SMA-LED) due to mutations in the dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) gene.
Al-Lozi, Muhammad T, Baas, Frank, Baloh, Robert H, Benatar, Michael, Calissano, Mattia, Chong, W K Kling, Cirak, Sebahattin, Connolly, Anne M, de Goede, Christian G E L, De Visser, Marianne, Fallon, Penny, Foley, A Reghan, Hadjikoumi, Irene, Hafezparast, Majid, Harms, Matthew B, Klein, Andrea, Mansour, Sahar, Manzur, Adnan Y, Martínez Arroyo, Amaia, Mcwilliam, Catherine, Mercuri, Eugenio, Muntoni, Francesco, Nixon, John, Overweg-Plandsoen, W C G Truus, Phadke, Rahul, Pitt, Matthew, Reilly, Mary M, Robb, Stephanie, Rodriguez Sanz, Aida, Rossor, Alexander M, Scoto, Mariacristina, Sewry, Caroline, Taylor, J Paul, Yang, Michele   +33 more
core   +1 more source

Nationwide Characterization of MFN2‐Related CMT in 176 Japanese Patients: Clinical and Genetic Insights

Annals of Clinical and Translational Neurology, Volume 13, Issue 1, Page 170-179, January 2026.
ABSTRACT Background Mitofusin 2 (MFN2) is a major causative gene for axonal Charcot – Marie – Tooth disease type 2A (CMT2A), with a wide phenotypic spectrum. Comprehensive large ‐ scale genotype – phenotype association studies are essential for understanding disease pathogenesis and improved clinical management.
Masahiro Ando, Yujiro Higuchi, Jun‐Hui Yuan, Akiko Yoshimura, Chikashi Yano, Takahiro Hobara, Fumikazu Kojima, Yu Hiramatsu, Satoshi Nozuma, Tomonori Nakamura, Yusuke Sakiyama, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima   +13 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

ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease [PDF]

, 2016
Charcot-Marie-Tooth disease is a group of hereditary peripheral neuropathies that share clinical characteristics of progressive distal muscle weakness and atrophy, foot deformities, distal sensory loss, as well as diminished tendon reflexes.
Barsottini O. G. P., Caltagirone C., Casella A., Gaudiello F., Kawarai T., Lo Giudice T., Massa R., Mearini M., Montecchiani C., Orlacchio A., Pedace L., Pedroso J. L., St. George-Hyslop P. H. St., Terracciano C.   +13 more
core   +2 more sources