Showing results (101-110 of 526) with videos related to
Sort By:
Pageof 53
Plos One|May 30, 2009
SNP haplotype mapping in a small ALS familyKatherine A Dick Krueger, Shoji Tsuji, Yoko Fukuda, et al.Journal of the Neurological Sciences|December 27, 2016
Slowly progressive d-bifunctional protein deficiency with survival to adulthood diagnosed by whole-exome sequencingTakashi Matsukawa, Kagari Mano Koshi, Jun Mitsui, et al.Neurology. Genetics|October 27, 2025
Erratum: Vanishing White Matter Disease With EIF2B2 c.254T>A Variant: Mild Clinical and MRI FindingsToshiyuki Kakumoto, Takashi Matsukawa, Ryo Tokimura, et al.Annals of Clinical and Translational Neurology|October 1, 2025
Nationwide Characterization of MFN2-Related CMT in 176 Japanese Patients: Clinical and Genetic InsightsMasahiro Ando, Yujiro Higuchi, Jun-Hui Yuan, et al.Pediatric Nephrology (Berlin, Germany)|December 13, 2016
Altered expression of Crb2 in podocytes expands a variation of CRB2 mutations in steroid-resistant nephrotic syndromeTomohiro Udagawa, Tohaku Jo, Takeshi Yanagihara, et al.Neurogenetics|August 21, 2020
Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosisHiroya Naruse, Hiroyuki Ishiura, Jun Mitsui, et al.Cerebellum (London, England)|September 13, 2017
Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and DystoniaMasanori Kurihara, Hiroyuki Ishiura, Takuya Sasaki, et al.Annals of Neurology|October 29, 2002
Oligodendrocytic polyglutamine pathology in dentatorubral-pallidoluysian atrophyMitsunori Yamada, Toshiya Sato, Shoji Tsuji, et al.Clinical Rheumatology|December 4, 2004
Churg-Strauss syndrome and the leukotriene receptor antagonist pranlukastJunsuke Shimbo, Osamu Onodera, Keiko Tanaka, et al.Scientific Reports|June 10, 2022
Early prediction of functional prognosis in neurofibromatosis type 2 patients based on genotype-phenotype correlation with targeted deep sequencingYu Teranishi, Satoru Miyawaki, Hirofumi Nakatomi, et al.Pageof 53