نتایج جستجو برای: charcot marie
تعداد نتایج: 11416 فیلتر نتایج به سال:
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 effect on myelination in Charcot-Marie-Tooth type 1A patients and whether this treatment is safe. METHODS Patients below age 25 years were random...
BACKGROUND A substantial impediment to progress in trials of new therapies in neuromuscular disorders is the absence of responsive outcome measures that correlate with patient functional deficits and are sensitive to early disease processes. Irrespective of the primary molecular defect, neuromuscular disorder pathological processes include disturbance of intramuscular water distribution followe...
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...
We previously found that the K141N mutation in heat shock protein B8 (HSPB8) was responsible for Charcot-Marie-Tooth disease type 2L in a large Chinese family. The objective of the present study was to generate a transgenic mouse model bearing the K141N mutation in the human HSPB8 gene, and to determine whether this (K141N)HSPB8 transgenic mouse model would manifest the clinical phenotype of Ch...
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