Détail de l'auteur
Auteur Cowling B |
Documents disponibles écrits par cet auteur (6)
trié(s) par (Date de parution décroissant(e), Date de parution décroissant(e), Système de projection du document croissant(e)) | Mettre toutes les notices dans le panier | Faire une suggestion | Ajouter un critère de recherche
Article
Article
Bohm J ; Vasli N ; Maurer M ; Cowling B ; Shelton GD ; Kress W ; Toussaint A ; Prokic I ; Schara U ; Anderson TJ ; Weis J ; Tiret L ; Laporte J | 06/2013Accès au résumé Pubmed/to pubmed abstractArticle
Centronuclear myopathies (CNM) are a group of congenital disorders characterized by hypotonia and typical skeletal muscle biopsies showing small rounded fibres with centralized nuclei. Three forms have been documented: the X-linked form with mut[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Davignon L ; Cowling B ; Koutsopoulos O ; Zivkovic I ; Mandel JL ; Laporte J | 2011Centronuclear myopathies (CNM) are congenital myopathies characterized by an abnormal central localization of the nuclei in skeletal muscle fibres associated with a generalized muscle weakness and atrophy. The X-linked, also named myotubular myo[...]Article
Centronuclear myopathies are rare muscle diseases characterized by muscle weakness associated to the abnormal positioning of nuclei in muscle fibers. Mutations in myotubularin (MTM1) have been identified in the most severe form of CNM: the X-lin[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Cowling B ; Amoasii L ; Toussaint A ; Koebel P ; Ferry A ; Davignon L ; Nishino I ; Mandel JL ; Laporte J | 2011Dynamin 2 (DNM2) is a large GTPase implicated in many cellular functions including cytoskeleton regulation and endocytosis. Whilst ubiquitously expressed, DNM2 was found mutated in two genetic disorders affecting different tissues: Autosomal Dom[...]