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JAMA Neurology|May 27, 2015
A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA34Kokoro Ozaki, Hiroshi Doi, Jun Mitsui, et al.Neurology. Genetics|April 12, 2016
Atypical parkinsonism caused by Pro105Leu mutation of prion protein: A broad clinical spectrumKagari Koshi Mano, Takashi Matsukawa, Jun Mitsui, et al.Annals of Clinical and Translational Neurology|February 5, 2024
SPTLC2 variants are associated with early-onset ALS and FTD due to aberrant sphingolipid synthesisHiroya Naruse, Hiroyuki Ishiura, Kayoko Esaki, et al.Movement Disorders : Official Journal of the Movement Disorder Society|October 10, 2003
Severe generalized dystonia as a presentation of a patient with aprataxin gene mutationYoshiki Sekijima, Takao Hashimoto, Osam Onodera, et al.Acta Neuropathologica|March 22, 2002
Immunocytochemical localization of synphilin-1, an alpha-synuclein-associated protein, in neurodegenerative disordersKoichi Wakabayashi, Simone Engelender, Yuji Tanaka, et al.Scientific Reports|February 19, 2016
Assessing Cell-to-Cell DNA Methylation Variability on Individual Long ReadsWei Qu, Tatsuya Tsukahara, Ryohei Nakamura, et al.Scientific Reports|March 1, 2020
Neuron-specific analysis of histone modifications with post-mortem brainsKagari Koshi-Mano, Tatsuo Mano, Maho Morishima, et al.Journal of the Peripheral Nervous System : JPNS|January 31, 2018
Clinical and genetic features of Charcot-Marie-Tooth disease 2F and hereditary motor neuropathy 2B in JapanHajime Tanabe, Yujiro Higuchi, Jun-Hui Yuan, et al.Scientific Reports|April 7, 2019
Functional evaluation of PDGFB-variants in idiopathic basal ganglia calcification, using patient-derived iPS cellsShin-Ichiro Sekine, Masayuki Kaneko, Masaki Tanaka, et al.Journal of Neurology|March 2, 2022
Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genesYu Hiramatsu, Yuji Okamoto, Akiko Yoshimura, et al.Pageof 53