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Neurobiology of Disease|May 12, 2015
Additive dominant effect of a SOX10 mutation underlies a complex phenotype of PCWHYukiko Ito, Naoko Inoue, Yukiko U Inoue, et al.Acta Neuropathologica|May 7, 2008
Aristaless-related homeobox gene disruption leads to abnormal distribution of GABAergic interneurons in human neocortex: evidence based on a case of X-linked lissencephaly with abnormal genitalia (XLAG)Shin Okazaki, Maki Ohsawa, Ichiro Kuki, et al.Brain & Development|December 9, 2017
Arima syndrome caused by CEP290 specific variant and accompanied with pathological cilium; clinical comparison with Joubert syndrome and its related diseasesMasayuki Itoh, Shuhei Ide, Yuji Iwasaki, 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.Journal of Medical Genetics|November 29, 2012
A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55)Haruo Shimazaki, Yoshihisa Takiyama, Hiroyuki Ishiura, et al.Journal of Neurology|December 25, 2012
Hypoalbuminemia in early onset dentatorubral-pallidoluysian atrophy due to leakage of albumin in multiple organsShigehiro Nagai, Yoshiaki Saito, Yukari Endo, et al.Internal Medicine (Tokyo, Japan)|June 17, 2014
Multiple deletions in mitochondrial DNA in a patient with progressive external ophthalmoplegia, leukoencephalopathy and hypogonadismYuko Ohnuki, Kazumi Takahashi, Eri Iijima, et al.Neurology. Genetics|September 16, 2017
IBA57 mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathyAkihiko Ishiyama, Chika Sakai, Yuichi Matsushima, 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.Plos One|June 28, 2013
Comparison of Genomic and Epigenomic Expression in Monozygotic Twins Discordant for Rett SyndromeKunio Miyake, Chunshu Yang, Yohei Minakuchi, et al.Pageof 20