Browsing by Author "Stoltenburg-Didinger, Gisela"
Now showing items 1-2 of 2
-
Congenital microcephaly-linked CDK5RAP2 affects eye development
Zaqout, Sami; Ravindran, Ethiraj; Stoltenburg-Didinger, Gisela; Kaindl, Angela M ( Wiley , 2020 , Article)Biallelic mutations in the cyclin-dependent kinase 5 regulatory subunit-associated protein 2 gene CDK5RAP2 cause autosomal recessive primary microcephaly type 3 (MCPH3). MCPH is characterized by intellectual disability and ... -
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 ...