Browsing by Author "Ravindran, Ethiraj"
Now showing items 1-2 of 2
-
Proteome changes in autosomal recessive primary microcephaly
Zaqout, Sami; Mannaa, Atef; Klein, Oliver; Krajewski, Angelika; Klose, Joachim; Luise-Becker, Lena; Elsabagh, Ahmed; Ferih, Khaled; Kraemer, Nadine; Ravindran, Ethiraj; Makridis, Konstantin; Kaindl, Angela M.... more authors ... less authors ( Wiley , 2022 , Article)Background/aim: : Autosomal recessive primary microcephaly (MCPH) is a rare and genetically heterogeneous group of disorders characterized by intellectual disability and microcephaly at birth, classically without further ... -
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 ...