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Human Molecular Genetics|February 18, 2003
Worldwide distribution and broader clinical spectrum of muscle-eye-brain diseaseKiyomi Taniguchi, Kazuhiro Kobayashi, Kayoko Saito, et al.Annals of Clinical and Translational Neurology|January 13, 2017
POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonismLionel Van Maldergem, Arnaud Besse, Boel De Paepe, et al.Nature Genetics|March 27, 2007
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevationGert C Scheper, Thom van der Klok, Rob J van Andel, et al.American Journal of Human Genetics|April 16, 2013
A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellumCas Simons, Nicole I Wolf, Nathan McNeil, et al.Human Molecular Genetics|September 24, 2021
High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effectRichard J L F Lemmers, Patrick J van der Vliet, David San Leon Granado, et al.Frontiers in Genetics|April 29, 2015
Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiencyUwe Ahting, Johannes A Mayr, Arnaud V Vanlander, et al.Iscience|December 10, 2021
Prolyl endopeptidase-like is a (thio)esterase involved in mitochondrial respiratory chain functionKaren Rosier, Molly T McDevitt, Joél Smet, et al.Oncogene|September 11, 2021
The long non-coding RNA SAMMSON is essential for uveal melanoma cell survivalShanna Dewaele, Louis Delhaye, Boel De Paepe, et al.Histology and Histopathology|March 13, 2013
Morphological spectrum and clinical features of myopathies with tubular aggregatesFabian Funk, Chantal Ceuterick-de Groote, Jean-Jacques Martin, et al.Journal of Inherited Metabolic Disease|October 19, 2014
TMEM70 deficiency: long-term outcome of 48 patientsMartin Magner, Veronika Dvorakova, Marketa Tesarova, et al.Pageof 13