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Internal Medicine (Tokyo, Japan)|January 8, 2013
Clinical and serial MRI findings of a sialidosis type I patient with a novel missense mutation in the NEU1 geneYoshiki Sekijima, Katsuya Nakamura, Dai Kishida, et al.Molecular Genetics and Metabolism|September 10, 2010
Chemical chaperone therapy: luciferase assay for screening of β-galactosidase mutationsLinjing Li, Katsumi Higaki, Haruaki Ninomiya, et al.Brain & Development|August 5, 2017
Neurodevelopmental disorders in children with macrocephaly: A prevalence study and PTEN gene analysisHirofumi Kurata, Kentaro Shirai, Yoshiaki Saito, et al.Case Reports in Pediatrics|January 21, 2016
Niemann-Pick Disease Type C Presenting as a Developmental Coordination Disorder with Bullying by Peers in a School-Age ChildRyo Suzuki, Atsushi Tanaka, Toshiharu Matsui, et al.Journal of Neurochemistry|May 18, 2011
Lysosomal accumulation of Trk protein in brain of GM₁ -gangliosidosis mouse and its restoration by chemical chaperoneAyumi Takamura, Katsumi Higaki, Haruaki Ninomiya, et al.Biochemical and Biophysical Research Communications|January 15, 2008
Enhanced autophagy and mitochondrial aberrations in murine G(M1)-gangliosidosisAyumi Takamura, Katsumi Higaki, Kenya Kajimaki, et al.Brain & Development|February 13, 2009
Fragile X carrier screening and FMR1 allele distribution in the Japanese populationSusumu Otsuka, Yumiko Sakamoto, Haruhiko Siomi, et al.Chemical Communications (Cambridge, England)|October 10, 2019
Multivalent glycoligands with lectin/enzyme dual specificity: self-deliverable glycosidase regulatorsManuel González-Cuesta, David Goyard, Eiji Nanba, et al.Human Genome Variation|July 13, 2021
Clinical course of epilepsy and white matter abnormality linked to a novel DYRK1A variantTetsuya Okazaki, Hiroyuki Yamada, Kaori Matsuura, et al.Epileptic Disorders : International Epilepsy Journal with Videotape|July 20, 2017
Pharmacoresistant epileptic eyelid twitching in a child with a mutation in SYNGAP1Tetsuya Okazaki, Yoshiaki Saito, Rika Hiraiwa, et al.Pageof 15