APPEL D’OFFRES AHF 2023
AHF Appeldoffres2023AHF_Appeldoffres2023.pdf110 KBdownload-circle
Veuillez trouver ci-dessus un appel d'offre pour une bourse de thèse de 3 ans sur la maladie de Huntington.
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
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 !