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IUBMB Life|September 9, 2024
AARS Online: A collaborative database on the structure, function, and evolution of the aminoacyl-tRNA synthetasesJordan Douglas, Haissi Cui, John J Perona, et al.Annals of Clinical and Translational Neurology|September 19, 2020
Dominant mutations in ITPR3 cause Charcot-Marie-Tooth diseaseJulius Rönkkö, Svetlana Molchanova, Anya Revah-Politi, et al.Disease Models & Mechanisms|October 26, 2022
The Finnish genetic heritage in 2022 - from diagnosis to translational researchJohanna Uusimaa, Johannes Kettunen, Teppo Varilo, et al.Experimental & Molecular Medicine|June 2, 2024
Advances and challenges in modeling inherited peripheral neuropathies using iPSCsJonas Van Lent, Robert Prior, Gonzalo Pérez Siles, et al.Nature Cell Biology|February 15, 2022
Metabolic determination of cell fate through selective inheritance of mitochondriaJulia Döhla, Emilia Kuuluvainen, Nadja Gebert, et al.Human Molecular Genetics|October 5, 2018
Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathyEwen W Sommerville, Xiao-Long Zhou, Monika Oláhová, et al.Neurology|June 28, 2015
Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactateAnna-Kaisa Anttonen, Taru Hilander, Tarja Linnankivi, et al.Neurobiology of Disease|August 10, 2018
Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseasesEmmanuelle C Genin, Sylvie Bannwarth, Françoise Lespinasse, et al.Human Mutation|January 10, 2018
Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial diseaseFrancesco Bruni, Ivano Di Meo, Emanuele Bellacchio, et al.Acta Neuropathologica Communications|May 21, 2025
Dose-dependent CHCHD10 dysregulation dictates motor neuron disease severity and alters creatine metabolismSandra Harjuhaahto, Manu Jokela, Jayasimman Rajendran, et al.Pageof 9