Zobrazeno 1 - 10
of 233
pro vyhledávání: '"J M, Warter"'
Autor:
Mitsunori Watanabe, Naima Bouslam, Patrick Calvas, A. M’zahem, J.-M. Warter, Paula Coutinho, Pascale Bomont, Christine Tranchant, Maria-Ceu Moreira, Massimo Pandolfo, Jean Pouget, Giovanni Stevanin, Alexis Brice, Alexandra Durr, Michel Koenig, Meriem Tazir, Christopher Shaw, M Tanaka, P. Mendonça, João Tiago Guimarães, I. Le Ber, Traki Benhassine, Mikio Shoji, Eimear Dunne, Patrick Aubourg, Andrea H. Németh, Masami Shizuka-Ikeda, Jörg B. Schulz, S Klur, Clara Barbot, J C Moniz, Louise Izatt, Ludger Schöls, Jorge Sequeiros
Publikováno v:
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Nat Genet. 2004 Mar;36(3):225-7. Epub 2004 Feb 8. Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Moreira MC, Klur S, Watanabe M, Németh AH, Le Ber I, Moniz JC, Tranchant C, Aubourg P, Tazir M, Schöls L, Pando
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18d766003c560c87712d225a8c9a1c39
https://doi.org/10.1038/ng1303
https://doi.org/10.1038/ng1303
Publikováno v:
Revue Neurologique. 161:1197-1204
Resume Introduction Les troubles psychologiques sont frequents au cours de la sclerose en plaques et leur etiologie reste encore debattue. Methodes L’objectif de cette etude multicentrique, non comparative, en ouvert etait d’evaluer au cours des
Publikováno v:
Revue Neurologique. 160:839-842
Resume Introduction L’histoire naturelle d’une maladie de Charcot-Marie-Tooth (CMT) peut etre marquee par une accentuation des deficits moteurs et sensitifs qui fait evoquer une polyradiculonevrite aigue ou, plus souvent, une polyneuropathie chro
Publikováno v:
Clinical Nutrition. 19:343-348
Background: Home parenteral nutrition (HPN) patients often present hypermanganesamia.Aim: To examine which factors may be associated to hypermanganesemia in HPN patients. Methods: Plasma manganese (Mn), liver function tests, C-reactive protein concen
Autor:
A Levi-Gomes, T. Voit, Jean-Michel Vallat, Dominique Bonneau, Luba Kalaydjieva, A Urtizberea, J Brasa, A. Barois, Marc Jeanpierre, Laura Jarre, Annick Toutain, Ivailo Tournev, J M Warter, Josseline Kaplan, P Gallano, Bernard Echenne, Luciano Merlini, F. Leturcq, C. Navarro
Publikováno v:
Neurology. 54:1075-1079
Objective: To characterize the clinical phenotype of LGMD2C in gypsies. Background: Limb-girdle muscular dystrophy (LGMD) in gypsies of Western Europe is caused by a homozygous C283Y mutation on the same haplotype, suggesting a founder effect. Method
Publikováno v:
British Journal of Pharmacology. 128:1385-1392
Neurotrophic factors have been used for the treatment of several neurodegenerative diseases. However, their use is limited by their inability to cross the blood-brain barrier, their short half life and their side effects. SR 57746A is a new orally ac
Autor:
Géraldine Cancel, J.-M. Warter, Gilles David, Olivier Didierjean, Giovanni Stevanin, Yves Agid, Alexis Brice, Alexandra Durr, Ayman Tourbah, S. Rivaud
Publikováno v:
Neurology. 49:1243-1246
The mutation involved in spinocerebellar ataxia type 6 (SCA6) is a small CAG expansion in the alpha-1A subunit of the voltage-dependent calcium channel gene. We looked for this mutation in 91 families with autosomal-dominant cerebellar ataxias and fo
Publikováno v:
RadioGraphics. 16:89-96
The aim of percutaneous laser disk decompression (PLDD) is to vaporize a small portion of the nucleus pulposus of an intervertebral disk, thereby reducing the volume and pressure of a diseased disk. This minimally invasive technique can be performed
Publikováno v:
Scopus-Elsevier
The clinical and genetic features of three non-Portuguese and non-Japanese patients with aprataxin gene mutations are reported. Patient 1 came from Italy and presented with typical ataxia with ocular motor apraxia (OMA). She was homozygous for the W2