نتایج جستجو برای: charcot marie tooth
تعداد نتایج: 97261 فیلتر نتایج به سال:
Charcot-Marie-Tooth disease (CMT) is an inherited neuronal disorder, and is induced by mutations of various genes associated with intracellular membrane traffic and cytoskeleton. A large GTPase, dynamin, which is known as a fission protein for endocytic vesicles, was identified as a gene responsible for dominant-intermediate CMT type 2B (DI-CMT2B). Of these mutants, the PH domain, which is requ...
Charcot-Marie-Tooth (CMT) disease is caused by mutations in several genes expressed in myelinating Schwann cells and the axons they ensheathe. Typical patients present with distally accentuated motor weakness, muscle wasting, and sensory loss leading to significant and progressive clinical morbidity and impaired quality of life. The wealth of recent information regarding genotype-phenotype corr...
Ridoutt, Bradley ; Fantke, Peter; Pfister, Stephan ; Bare, Jane; Boulay, Anne-Marie; Cherubini, Francesco ; Frischknecht, Rolf; Hauschild, Michael Zwicky; Hellweg, Stefanie; Henderson, Andrew; Jolliet, Olivier; Levasseur, Annie; Margni, Manuele; McKone, Thomas E.; Michelsen, Ottar; i Canals, Llorenc Mila; Page, Girija ; Pant, Rana; Raugei, Marco ; Sala, Serenella; Saouter, Erwan ; Verones, Fran...
'Protein displays of the Human Immunoglobulin Heavy, Kappa and Lambda Variable and Joining Regions', the 6th report of the 'IMGT Locus on Focus' section, comprises 4 figures: (1) 'Protein display of human IGH V-REGIONs'; (2) 'Protein display of human IGK V-REGIONs'; (3) 'Protein display of human IGL V-REGIONs and V-PREB REGION'; (4) 'Protein display of human IGH, IGK and IGL J-REGIONs', and 1 t...
Background Leg muscle cramps have been identified as the strongest independent predictor of worse quality of life in Australian children with Charcot-Marie-Tooth disease Type 1A (CMT1A) [1]. There is no accepted treatment for cramp in children with CMT and the cause of cramp is not well understood. Potential therapeutic targets should be carefully identified to direct clinical trials of interve...
To date, 12 cases of heterozygous Ser72Leu mutations in the peripheral myelin protein 22 have been reported in patients suffering from severe demyelinating form of Charcot-Marie-Tooth disease (CMT1) and congenital hypomyelinating neuropathy (CHN) [MIM# 605253]. In the present study we report two cases of de novo S72L mutations in the PMP22 gene detected in patients of Polish origin suffering fr...
Correction for 'Programmable RNA microstructures for coordinated delivery of siRNAs' by Jaimie Marie Stewart et al., Nanoscale, 2016, 8, 17542-17550.
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