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Biochimica Et Biophysica Acta|November 19, 2013
LC-MS/MS characterization of combined glycogenin-1 and glycogenin-2 enzymatic activities reveals their self-glucosylation preferencesJohanna Nilsson, Adnan Halim, Erik Larsson, et al.
APMIS : Acta Pathologica, Microbiologica, Et Immunologica Scandinavica|August 20, 2016
Histopathological changes in skeletal muscle associated with chronic ischaemiaSara Roos, Ing-Marie Fyhr, Katharina S Sunnerhagen, et al.
Biochimica Et Biophysica Acta|December 27, 2011
Molecular pathogenesis of a new glycogenosis caused by a glycogenin-1 mutationJohanna Nilsson, Adnan Halim, Ali-Reza Moslemi, et al.
BMC Musculoskeletal Disorders|March 3, 2016
Lethal multiple pterygium syndrome, the extreme end of the RYR1 spectrumAriana Kariminejad, Siavash Ghaderi-Sohi, Hamid Hossein-Nejad Nedai, et al.
Plos One|November 7, 2015
Developmental MYH3 Myopathy Associated with Expression of Mutant Protein and Reduced Expression Levels of Embryonic MyHCMalgorzata Pokrzywa, Michaela Norum, Johan Lengqvist, et al.
Neuromuscular Disorders : NMD|May 29, 2002
Ageing muscle: clonal expansions of mitochondrial DNA point mutations and deletions cause focal impairment of mitochondrial functionGuillemette Fayet, Monica Jansson, Damien Sternberg, et al.
Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie|January 15, 2020
Expression of the <i>GBGT1</i> Gene and the Forssman Antigen in Red Blood Cells in a Palestinian PopulationWafa Ali Abusibaa, Mahmoud A Srour, Ali-Reza Moslemi, et al.
Neuromuscular Disorders : NMD|January 14, 2009
A novel homozygous RRM2B missense mutation in association with severe mtDNA depletionGittan Kollberg, Niklas Darin, Karin Benan, et al.
European Journal of Human Genetics : EJHG|February 11, 2005
Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutationsGittan Kollberg, Monica Jansson, Asa Pérez-Bercoff, et al.
Brain Communications|September 21, 2020
Recessive Charcot-Marie-Tooth and multiple sclerosis associated with a variant in <i>MCM3AP</i>Maryam Sedghi, Ali-Reza Moslemi, Macarena Cabrera-Serrano, et al.
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