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Journal of the Neurological Sciences|October 31, 2008
Age at onset influences on wide-ranged clinical features of sporadic amyotrophic lateral sclerosisNaoki Atsuta, Hirohisa Watanabe, Mizuki Ito, et al.Annals of Neurology|January 3, 2013
A novel monoclonal antibody reveals a conformational alteration shared by amyotrophic lateral sclerosis-linked SOD1 mutantsTakao Fujisawa, Kengo Homma, Namiko Yamaguchi, et al.Clinical Case Reports|February 14, 2022
Family with congenital contractural arachnodactyly due to a novel multiexon deletion of the FBN2 geneHiroki Yagi, Hiroshi Takiguchi, Norifumi Takeda, et al.Annals of Neurology|March 19, 2016
Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2Yujiro Higuchi, Akihiro Hashiguchi, Junhui Yuan, et al.Journal of Alzheimer'S Disease : JAD|August 8, 2026
Subthreshold early white-matter hyperintensity increase predicts accelerated hippocampal and whole-brain atrophy in anti-amyloid-β immunotherapyShiori Amemiya, Hidemasa Takao, Shoya Matsumoto, et al.BMC Medical Genetics|June 20, 2018
SLC4A4 compound heterozygous mutations in exon-intron boundary regions presenting with severe proximal renal tubular acidosis and extrarenal symptoms coexisting with Turner's syndrome: a case reportShoko Horita, Enver Simsek, Tulay Simsek, et al.Scientific Reports|February 28, 2019
Chronic cerebral hypoperfusion shifts the equilibrium of amyloid β oligomers to aggregation-prone species with higher molecular weightTaro Bannai, Tatsuo Mano, Xigui Chen, et al.Journal of Neurology|February 28, 2026
Genotype-phenotype correlations in neuronal intranuclear inclusion disease-related retinopathy with CGG repeat increases in NOTCH2NLCNatsuko Nakamura, Kazushige Tsunoda, Akihiko Mitsutake, et al.Journal of Human Genetics|July 29, 2011
Comprehensive mutational analysis of LRRK2 reveals variants supporting association with autosomal dominant Parkinson's diseaseNaomi Seki, Yuji Takahashi, Hiroyuki Tomiyama, et al.Neurology|August 11, 2017
Clinicopathologic features of myositis patients with CD8-MHC-1 complex pathologyChiseko Ikenaga, Akatsuki Kubota, Masato Kadoya, et al.Pageof 53