Early-Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B
由编码磷酸二酯酶 1B 的 PDE1B 基因双等位基因变异引起的早发性运动障碍综合征
期刊:Movement Disorders
影响因子:7.6
doi:10.1002/mds.30249
Poleg, Tomer; Hadar, Noam; Kristal, Eyal; Roberts, Nicola Y; Dolgin, Vadim; Aminov, Ilana; Safran, Amit; Agam, Nadav; Jean, Matan; Freund, Ofek; Sheridan, Eamonn G; Poulter, James A; Thompson, Michelle L; Algoos, Yusra; Al-Qahtani, Salma; AlAbdi, Lama; Maddirevula, Sateesh; Hartill, Verity; Houlden, Henry; Maroofian, Reza; Nahum, Amit; Birk, Ohad S