AP4B1 hypomorphic variants cause autosomal recessive adult-onset ataxia
AP4B1 低效变异体导致常染色体隐性遗传的成人起病型共济失调。
期刊:Journal of Neurology
影响因子:4.6
doi:10.1007/s00415-025-12889-5
Sabbagh, Quentin; Poblete, Natalia Hernandez; Angelini, Chloé; Hersent, Clément; Benkirane, Mehdi; Pointaux, Morgane; Larrieu, Lise; Castrioto, Anna; Deberge, Louise; Fluchère, Frédérique; Ramond, Francis; Lesca, Gaetan; Koenig, Michel; Goizet, Cyril
