International Congress for Ataxia Research (ICAR)
Consultez les abstracts du congrès ici.
Hortense Hurmic
Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes
Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes - PubMedUsually, molecular diagnosis of spinocerebellar ataxia is based on a step-by-step approach with targeted sizing of four repeat expansions accounting for most dominant cases, then targeted sequencing of other genes. Nowadays, genome sequencing allows detection of most
FGF14 : une nouvelle expansion GAA (SCA27B)
Consultez l'article :
Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia - PubMedA dominantly inherited deep intronic GAA repeat expansion in <i>FGF14</i> was found to be associated with LOCA. (Funded by Fondation Groupe Monaco and others.).PubMedDavid Pellerin
Merci
Nous remercions chaleureusement Caroline Scicluna, Chargée de Mission de Coordination au Département de Génétique de l'Hôpital de la Pitié Salpétrière, pour la création du logo de la SFNG !