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Cell Metabolism|March 1, 2016
Mitochondrial DNA Replication Defects Disturb Cellular dNTP Pools and Remodel One-Carbon MetabolismJoni Nikkanen, Saara Forsström, Liliya Euro, et al.The Lancet. Neurology|August 9, 2011
FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic studyAnu Suomalainen, Jenni M Elo, Kirsi H Pietiläinen, et al.Human Molecular Genetics|March 24, 2020
Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron contentRosa Woldegebriel, Jouni Kvist, Noora Andersson, et al.Brain : a Journal of Neurology|June 22, 2017
MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disabilityEmil Ylikallio, Rosa Woldegebriel, Manuela Tumiati, et al.The Journal of Experimental Medicine|August 13, 2021
Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3AAlice Lepelley, Erika Della Mina, Erika Van Nieuwenhove, et al.Human Mutation|September 30, 2014
De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophyJae-Ran Lee, Myriam Srour, Doyoun Kim, et al.Brain : a Journal of Neurology|December 27, 2021
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysisMacarena Cabrera-Serrano, Laure Caccavelli, Marco Savarese, et al.Pageof 9