تصفح حسب المؤلف "Kraemer, Nadine"
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Homozygous mutation in MCM7 causes autosomal recessive primary microcephaly and intellectual disability
Ravindran, Ethiraj; Gutierrez de Velazco, Cynthia; Ghazanfar, Ali; Kraemer, Nadine; Zaqout, Sami; Waheed, Abdul; Hanif, Mohsan; Mughal, Sadia; Prigione, Alessandro; Li, Na; Fang, Xiang; Hu, Hao; Kaindl, Angela M... more authors ... less authors ( BMJ Publishing Group , 2021 , Article)Minichromosomal maintenance (MCM) complex components 2, 4, 5 and 6 have been linked to human disease with phenotypes including microcephaly and intellectual disability. The MCM complex has DNA helicase activity and is ... -
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 ...