Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression
ARCA2 的表型变异性以及缓慢进展的核心共济失调表型的鉴定
期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/1750-1172-8-173
Mignot, Cyril; Apartis, Emmanuelle; Durr, Alexandra; Marques Lourenço, Charles; Charles, Perrine; Devos, David; Moreau, Caroline; de Lonlay, Pascale; Drouot, Nathalie; Burglen, Lydie; Kempf, Nadine; Nourisson, Elsa; Chantot-Bastaraud, Sandra; Lebre, Anne-Sophie; Rio, Marlène; Chaix, Yves; Bieth, Eric; Roze, Emmanuel; Bonnet, Isabelle; Canaple, Sandrine; Rastel, Coralie; Brice, Alexis; Rötig, Agnès; Desguerre, Isabelle; Tranchant, Christine; Koenig, Michel; Anheim, Mathieu