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Annals of Neurology|October 7, 2004
Actin mutations are one cause of congenital fibre type disproportionNigel G Laing, Nigel F Clarke, Danielle E Dye, et al.Neurology. Genetics|September 24, 2016
Novel TK2 mutations as a cause of delayed muscle maturation in mtDNA depletion syndromeThanes Termglinchan, Seito Hisamatsu, Junko Ohmori, et al.Human Molecular Genetics|September 18, 2014
Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca²⁺ channelsYukari Endo, Satoru Noguchi, Yuji Hara, et al.Neurology|July 11, 2020
ADSSL1 myopathy is the most common nemaline myopathy in Japan with variable clinical featuresYoshihiko Saito, Atsuko Nishikawa, Aritoshi Iida, et al.Scientific Reports|December 17, 2016
Changes in mitochondrial homeostasis and redox status in astronauts following long stays in spaceHiroko P Indo, Hideyuki J Majima, Masahiro Terada, et al.Neurology. Genetics|September 16, 2017
<i>IBA57</i> mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathyAkihiko Ishiyama, Chika Sakai, Yuichi Matsushima, et al.Brain : a Journal of Neurology|February 18, 2026
SNUPN variants cause spinocerebellar atrophy by disrupting global splicing in cerebellar Purkinje cellsMariko Okubo, Megumu Ogawa, Nobuyuki Eura, et al.Nature Cell Biology|July 7, 2009
Mitochondrial fission factor Drp1 is essential for embryonic development and synapse formation in miceNaotada Ishihara, Masatoshi Nomura, Akihiro Jofuku, et al.Annals of Neurology|June 4, 2019
COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiencyMichio Inoue, Shumpei Uchino, Aritoshi Iida, et al.Acta Neuropathologica Communications|November 26, 2020
CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestationsMasashi Ogasawara, Aritoshi Iida, Theerawat Kumutpongpanich, et al.Pageof 17