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Proceedings of the National Academy of Sciences of the United States of America|November 23, 2005
Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in miceHenna Tyynismaa, Katja Peltola Mjosund, Sjoerd Wanrooij, et al.Acta Neurologica Scandinavica|August 21, 2021
Effectiveness of clinical exome sequencing in adult patients with difficult-to-diagnose neurological disordersMarkus T Sainio, Juho Aaltio, Virva Hyttinen, et al.Neuromuscular Disorders : NMD|January 14, 2024
Variants in tropomyosins TPM2 and TPM3 causing muscle hypertoniaCarina Wallgren-Pettersson, Manu Jokela, Vilma-Lotta Lehtokari, et al.Neurology|July 20, 2014
Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophySofia Ahola, Pirjo Isohanni, Liliya Euro, et al.Neurogenetics|August 22, 2023
Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament lightEdouard Palu, Julius Järvilehto, Jana Pennonen, et al.Plos One|July 11, 2013
The overexpression of Twinkle helicase ameliorates the progression of cardiac fibrosis and heart failure in pressure overload model in miceAtsushi Tanaka, Tomomi Ide, Takeo Fujino, et al.Journal of Community Genetics|April 6, 2020
Attitudes towards genetic testing and information: does parenthood shape the views?Antti Saastamoinen, Virva Hyttinen, Mika Kortelainen, et al.Neurology. Genetics|April 12, 2016
PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistryMari Auranen, Johanna Palmio, Emil Ylikallio, et al.Human Molecular Genetics|February 20, 2010
Ketogenic diet slows down mitochondrial myopathy progression in miceSofia Ahola-Erkkilä, Christopher J Carroll, Katja Peltola-Mjösund, et al.Journal of Lipid Research|May 21, 2011
Serum angiopoietin-like 4 protein levels and expression in adipose tissue are inversely correlated with obesity in monozygotic twinsMarius R Robciuc, Jussi Naukkarinen, Alfredo Ortega-Alonso, et al.Pageof 9