Results 51 to 60 of about 49,167 (262)

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  

Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin [PDF]

, 2017
To identify the disease-causing gene responsible for an autosomal dominantly inherited Charcot-Marie-Tooth neuropathy subtype in a family excluded for mutations in the common Charcot-Marie-Tooth genes, we used array-based sequence capture to ...
Auer-Grumbach, Michaela, Auer-Grumbach, Piet, Budka, Herbert, El Shabrawi-Caelen, Laila, Fink-Puches, Regina, Fröhlich, Eleonore, Guelly, Christian, Haas, Anton, Janecke, Andreas R., Metze, Dieter, Papić, Lea, Pieber, Thomas R., Schabhüttl, Maria, Senderek, Jan, Trajanoski, Slave, Weger, Martin, Windpassinger, Christian   +16 more
core  

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

Intermediate filaments link glutamate–aspartate transporter deficiency to cochlear synaptopathy

The FEBS Journal, EarlyView.
In a healthy ear, GLAST transporters in supporting cells clear excess glutamate to protect auditory connections. When GLAST is missing, glutamate accumulates and leads to the destruction of structural scaffolding within the postsynaptic nerve endings. This internal collapse causes a loss of synapses that are essential for hearing, ultimately resulting ...
Paul Emmerich Krumpoeck, Lukas David Landegger   +1 more
wiley   +1 more source

Oral high dose ascorbic acid treatment for one year in young CMT1A patients: a randomised, double-blind, placebo-controlled phase II trial

BMC Medicine, 2009
Background High dose oral ascorbic acid substantially improved myelination and locomotor function in a Charcot-Marie-Tooth type 1A mouse model. A phase II study was warranted to investigate whether high dose ascorbic acid also has such a substantial ...
de Visser Marianne, Baas Frank, Vermeulen Marinus, de Haan Rob J, Verhamme Camiel, van Schaik Ivo N   +5 more
doaj   +1 more source

Expression of mitofusin 2R94Q in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A [PDF]

, 2017
Charcot-Marie-Tooth disease type 2A is an autosomal dominant axonal form of peripheral neuropathy caused by mutations in the mitofusin 2 gene. Mitofusin 2 encodes a mitochondrial outer membrane protein that participates in mitochondrial fusion in ...
Arnaud, Estelle, Cartoni, Romain, Chrast, Roman, Courvoisier, Delphine S., Martinou, Jean-Claude, Médard, Jean-Jacques, Poirot, Olivier   +6 more
core  

An Inversion Disrupting FAM134B Is Associated with Sensory Neuropathy in the Border Collie Dog Breed [PDF]

, 2016
Sensory neuropathy in the Border Collie is a severe neurological disorder caused by the degeneration of sensory and, to a lesser extent, motor nerve cells with clinical signs starting between 2 and 7 months of age.
Beltran, E, De Risio, L, Forman, O P, Gutierrez-Quintana, R, Hitti, R J, Jenkins, C A, Mellersh, C, O'Brien, D P, Pettitt, L, Shelton, G D   +9 more
core   +4 more sources

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

Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1) [PDF]

, 2017
OBJECTIVE: To extend the phenotypic description of Charcot-Marie-Tooth disease (CMTX1) and to draw new genotype-phenotype relationships. METHODS: Mutations in GJB1 cause the main X-linked form of CMTX (CMTX1).
Burns, J, Day, J, Herrmann, DN, Horvath, R, Inherited Neuropathies Consortium—Rare Diseases Clinical Researc,, Laura, M, Lewis, RA, Li, J, Panosyan, FB, Pareyson, D, Pisciotta, C, Piscosquito, G, Reilly, MM, Rossor, AM, Scherer, SS, Shy, ME, Yum, SW   +16 more
core   +1 more source

Biallelic Nonsense Variants in NEFL May Cause a Non‐Length‐Dependent Neuropathy With Temporal Dispersion on Nerve Conduction Studies

Journal of the Peripheral Nervous System, Volume 31, Issue 2, June 2026.
ABSTRACT Background and Aims Pathogenic variants in NEFL, the gene that encodes the light polypeptide subunit of neurofilaments, are an uncommon cause of autosomal recessive Charcot‐Marie‐Tooth (CMT) disease. In this study, we describe the clinical and electrophysiological features of two families with early‐onset CMT carrying nonsense variants in the ...
Marcus Vinícius Vieira da Silva Gomes, Pedro José Tomaselli, Wilson Marques Jr   +2 more
wiley   +1 more source