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Journal of Human Genetics|June 20, 2018
Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairmentKishin Koh, Hiroyuki Ishiura, Minako Beppu, et al.Internal Medicine (Tokyo, Japan)|December 12, 2017
A Homozygous LAMA2 Mutation of c.818G>A Caused Partial Merosin Deficiency in a Japanese PatientAkatsuki Kubota, Hiroyuki Ishiura, Jun Mitsui, et al.Journal of the Peripheral Nervous System : JPNS|May 30, 2023
Clinical features of a family with late-onset distal hereditary motor neuropathy harboring p.Pro39Leu variant of HSPB1Hiroya Naruse, So Okubo, Atsushi Sudo, et al.Rinsho Shinkeigaku = Clinical Neurology|September 17, 2011
[Future directions of neurology - breakthrough to the next stage ]Shoji TsujiHuman Molecular Genetics|April 24, 2010
Genetics of neurodegenerative diseases: insights from high-throughput resequencingShoji TsujiBrain and Nerve = Shinkei Kenkyu No Shinpo|February 7, 2023
[New MDS Criteria for the Diagnosis of Multiple System Atrophy: Overview and Genetic Viewpoint]Shoji TsujiRinsho Shinkeigaku = Clinical Neurology|February 13, 2015
[Susceptibility gene in multiple system atrophy (MSA)]Shoji TsujiRinsho Shinkeigaku = Clinical Neurology|May 22, 2004
[Mechanisms of neurodegeneration in polyglutamine diseases]Shoji TsujiPageof 53