Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25
杂合 PNPT1 变异导致脊髓小脑共济失调 25 型
期刊:Annals of Neurology
影响因子:8.1
doi:10.1002/ana.26366
Mathieu Barbier #, Melanie Bahlo #, Alessandra Pennisi, Maxime Jacoupy, Rick M Tankard, Claire Ewenczyk, Kayli C Davies, Patricia Lino-Coulon, Claire Colace, Haloom Rafehi, Nicolas Auger, Brendan R E Ansell, Ivo van der Stelt, Katherine B Howell, Marie Coutelier, David J Amor, Emeline Mundwiller, Le