تصفح حسب المؤلف "Stoltenburg-Didinger, Gisela"
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PTRH2 is Necessary for Purkinje Cell Differentiation and Survival and its Loss Recapitulates Progressive Cerebellar Atrophy and Ataxia Seen in IMNEPD Patients
Picker-Minh, Sylvie; Luperi, Ilaria; Ravindran, Ethiraj; Kraemer, Nadine; Zaqout, Sami; Stoltenburg-Didinger, Gisela; Ninnemann, Olaf; Hernandez-Miranda, Luis R.; Mani, Shyamala; Kaindl, Angela M.... more authors ... less authors ( Springer , 2022 , Article)Homozygous variants in the peptidyl-tRNA hydrolase 2 gene (PTRH2) cause infantile-onset multisystem neurologic, endocrine, and pancreatic disease. The objective is to delineate the mechanisms underlying the core cerebellar ...