Results 31 to 40 of about 26,653 (213)

GDAP1 loss of function inhibits the mitochondrial pyruvate dehydrogenase complex by altering the actin cytoskeleton

Communications Biology, 2022
GDAP1 mutations effect Charcot-Marie-Tooth disease 4A by inhibiting the pyruvate dehydrogenase complex and restricting mitochondrial localization of dynamin-related protein 1 through alterations of the actin cytoskeleton.
Christina Wolf, Alireza Pouya, Sara Bitar, Annika Pfeiffer, Diones Bueno, Liliana Rojas-Charry, Sabine Arndt, David Gomez-Zepeda, Stefan Tenzer, Federica Dal Bello, Caterina Vianello, Sandra Ritz, Jonas Schwirz, Kristina Dobrindt, Michael Peitz, Eva-Maria Hanschmann, Pauline Mencke, Ibrahim Boussaad, Marion Silies, Oliver Brüstle, Marta Giacomello, Rejko Krüger, Axel Methner   +22 more
doaj   +1 more source

UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy [PDF]

, 2018
Deafferentation of motor neurons as a result of defective sensory-motor connectivity is a critical early event in the pathogenesis of spinal muscular atrophy, but the underlying molecular pathways remain unknown.
Boyd, Penelope J., Gillingwater, Thomas H., Groen, Ewout J. N., Lamont, Douglas J., Llavero Hurtado, Maica, Schiavo, Giampietro, Shorrock, Hannah K., Sleigh, James N., van der Hoorn, Dinja, Wirth, Brunhilde, Wishart, Thomas M.   +10 more
core   +4 more sources

Charcot Marie Tooth Disease Type 1 - Rare but Commonest Hereditary Neuropathy [PDF]

Al Ameen Journal of Medical Sciences, 2012
Objective: To present a case of Charcot Marie Tooth Disease. Backgrounds: A 22 years old boy presented with very slowly progressive symmetrical weakness of both lower limbs with distal muscular atrophy.
Shakya Bhattacharjee, Shankar Prasad Saha   +1 more
doaj  

Effectiveness of a specific physical therapy program for Charcot-Marie-Tooth on sleep quality, pain perception, and nocturnal cramps: a pilot study

Sleep Science, 2022
Introduction: Chronic pain, nocturnal cramps, and sleep alterations are prevalent symptoms and signals in Charcot-Marie-Tooth disease patients. Sleep and pain are bidirectionally related and physical therapy can improve the binomial sleep and pain ...
Cynthia Coelho Souza, Julia Ribeiro da Silva Vallim, Eduardo Luis de Aquino Neves, Paula Santos Nunes, Iandra Maria Pinheiro de França Costa, Lidiane Carine Lima Santos Barreto, Catarina Andrade Garcez, Adriano Antunes de Souza Araujo   +7 more
doaj   +1 more source

Mice Hemizygous for a Pathogenic Mitofusin-2 Allele Exhibit Hind Limb/Foot Gait Deficits and Phenotypic Perturbations in Nerve and Muscle. [PDF]

, 2016
Charcot-Marie-Tooth disease type 2A (CMT2A), the most common axonal form of hereditary sensory motor neuropathy, is caused by mutations of mitofusin-2 (MFN2). Mitofusin-2 is a GTPase required for fusion of mitochondrial outer membranes, repair of damaged
Bannerman, Peter, Burns, Travis, Miers, Laird, Pleasure, David, Xu, Jie   +4 more
core   +4 more sources

Severity of Demyelinating and Axonal Neuropathy Mouse Models Is Modified by Genes Affecting Structure and Function of Peripheral Nodes

Cell Reports, 2017
Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of inherited polyneuropathies. Mutations in 80 genetic loci can cause forms of CMT, resulting in demyelination and axonal dysfunction.
Kathryn H. Morelli, Kevin L. Seburn, David G. Schroeder, Emily L. Spaulding, Loiuse A. Dionne, Gregory A. Cox, Robert W. Burgess   +6 more
doaj   +1 more source

Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease [PDF]

, 2017
OBJECTIVES: To analyse and describe the clinical and genetic spectrum of Charcot-Marie-Tooth disease (CMT) caused by mutations in the neurofilament light polypeptide gene (NEFL).
Bettencourt, C, Blake, JC, Brandner, S, Gonzalez, MA, Hanna, MG, Horga, A, Houlden, H, Jaunmuktane, Z, Jerath, NU, Laurà, M, Liu, Y-T, Lunn, MP, Manji, H, Poh, R, Polke, JM, Reilly, MM, Shy, M, Wiethoff, S, Züchner, S   +18 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

Rehabilitation interventions for foot drop in neuromuscular disease [PDF]

, 2009
"Foot drop" or "Floppy foot drop" is the term commonly used to describe weakness or contracture of the muscles around the ankle joint.
Brumett, Donaghy, Farmer, Forst, Forst, Geboers, Geboers, Geboers, Germain, Hove, Hyde, Jadad, Jaivin, Kooi, Kooi, Kooi, Kooi, Lindeman, Manzur, Manzur, Matjaic, McDonald, Olsen, Refshauge, Richardson, Rideau, Rozier, Sackley, Tropp, Tulder, Turner-Stokes, Vigasio, Wiesinger, Wiesseman   +33 more
core   +1 more source

Dynamin 2 mutations in Charcot-Marie-Tooth neuropathy highlight the importance of clathrin-mediated endocytosis in myelination [PDF]

, 2017
Mutations in dynamin 2 (DNM2) lead to dominant intermediate Charcot-Marie-Tooth neuropathy type B, while a different set of DNM2 mutations cause autosomal dominant centronuclear myopathy.
Bock, Thomas, Kuner, Rohini, Meijer, Dies, Miehe, Michaela, Niemann, Axel, Oertli, Carole I., Sidiropoulos, Páris N. M., Suter, Ueli, Tinelli, Elisa, Wollscheid, Bernd   +9 more
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