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European Journal of Human Genetics : EJHG|July 12, 2012
A novel mitochondrial tRNA Arg mutation resulting in an anticodon swap in a patient with mitochondrial encephalomyopathySara Roos, Niklas Darin, Gittan Kollberg, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 13, 2012
Phenotypic and genotypic variability in Alpers syndromeKalliopi Sofou, Ali-Reza Moslemi, Gittan Kollberg, et al.Neurology. Genetics|December 26, 2018
Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a <i>MRE11</i> variantMaryam Sedghi, Mehri Salari, Ali-Reza Moslemi, et al.Human Molecular Genetics|March 1, 2013
Subnormal levels of POLγA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and progressive external ophthalmoplegia [corrected]Sara Roos, Bertil Macao, Javier Miralles Fusté, et al.Neuromuscular Disorders : NMD|October 24, 2006
A novel sporadic mutation G14739A of the mitochondrial tRNA(Glu) in a girl with exercise intoleranceJohannes A Mayr, Ali-Reza Moslemi, Holger Förster, et al.Journal of Neuropathology and Experimental Neurology|August 10, 2006
POLG1 mutations associated with progressive encephalopathy in childhoodGittan Kollberg, Ali-Reza Moslemi, Niklas Darin, et al.Neuromuscular Disorders : NMD|February 13, 2021
Functional analysis of a novel POLγA mutation associated with a severe perinatal mitochondrial encephalomyopathyNiklas Darin, Triinu Siibak, Bradley Peter, et al.Annals of Clinical and Translational Neurology|September 28, 2019
Motor neuron diseases caused by a novel VRK1 variant - A genotype/phenotype studyMaryam Sedghi, Ali-Reza Moslemi, Montse Olive, et al.Mitochondrion|January 24, 2015
Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1Kristoffer Björkman, Kalliopi Sofou, Niklas Darin, et al.Blood Transfusion = Trasfusione Del Sangue|November 29, 2016
Prevalence of antibodies to a new histo-blood system: the FORS systemCarlos Jesus, Camilla Hesse, Clara Rocha, et al.Pageof 4