[Ascorbic acid: a first generation drug for Charcot-Marie-Tooth disease].
نویسنده
چکیده
Montréal. Il a pour mission la promotion et la valorisation de la recherche. Érudit offre des services d'édition numérique de documents scientifiques depuis 1998. Pour communiquer avec les responsables d'Érudit : [email protected] Article « L'acide ascorbique, un médicament de première génération pour la maladie de Charcot-Marie-Tooth de type 1A ? / Ascorbic acid : a first generation drug for Charcot-Marie-Tooth disease » Note : les règles d'écriture des références bibliographiques peuvent varier selon les différents domaines du savoir. Ce document est protégé par la loi sur le droit d'auteur. L'utilisation des services d'Érudit (y compris la reproduction) est assujettie à sa politique d'utilisation que vous pouvez consulter à l'URI
منابع مشابه
Diagnosis, natural history, and management of Charcot-Marie-Tooth disease.
Charcot-Marie-Tooth disease is the most common inherited neuromuscular disorder. There have been substantial advances in elucidating the molecular bases of this genetically heterogeneous neuropathy and, in most cases, molecular diagnosis is now possible. The diagnostic approach requires careful assessment of clinical presentation and mode of inheritance, nerve-conduction studies, and DNA testin...
متن کاملCharcot–Marie–Tooth disease: Genetics, epidemiology and complications
Background and aims: Charcot Marie Tooth disease (CMT) is the most prevalent hereditary neuropathy and its frequency is 1 in 2500. CMT is a heterogeneous disease and has different clinical symptoms. The prevalence of CMT and involved genes differ in different countries. CMT patients experience considerable sleep problems and a higher risk of decreased quality of life. In this w...
متن کاملOral high dose ascorbic acid treatment for one year in young CMT1A patients: a randomised, double-blind, placebo-controlled phase II trial
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...
متن کاملAn update on clinical trials in Charcot-Marie-Tooth Disease
How far away is an effective therapy for Charcot-Marie-Tooth disease (CMT), the most frequent inherited neuropathy affecting approximately one individual in every 2500 around the world [1]? The next few years will be fundamental to giving the answer to this key question about a still untreatable disorder, for which rehabilitation therapy and surgical correction of skeletal deformities still rep...
متن کاملMetabolite profile of a mouse model of Charcot–Marie–Tooth type 2D neuropathy: implications for disease mechanisms and interventions
Charcot-Marie-Tooth disease encompasses a genetically heterogeneous class of heritable polyneuropathies that result in axonal degeneration in the peripheral nervous system. Charcot-Marie-Tooth type 2D neuropathy (CMT2D) is caused by dominant mutations in glycyl tRNA synthetase (GARS). Mutations in the mouse Gars gene result in a genetically and phenotypically valid animal model of CMT2D. How mu...
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ورودعنوان ژورنال:
- Medecine sciences : M/S
دوره 20 10 شماره
صفحات -
تاریخ انتشار 2004