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Journal of the Peripheral Nervous System : JPNS
|
May 12, 2023
Noncanonical splice-site variant in peripheral myelin protein 22 gene (PMP22) in a patient with hereditary neuropathy with liability to pressure palsies
Norifumi Kawamoto, Yuichi Hamada, Shunsuke Kobayashi, et al.
Journal of Human Genetics
|
April 22, 2025
Elevated serum autotaxin levels and multiple system atrophy-like presentation in a patient with PLA2G6-associated neurodegeneration
So Okubo, Takashi Matsukawa, Norifumi Kawamoto, et al.
Internal Medicine (Tokyo, Japan)
|
June 11, 2019
Prominent Spasticity and Hyperreflexia of the Legs in a Nepalese Patient with Friedreich Ataxia
Hiroya Naruse, Yuji Takahashi, Hiroyuki Ishiura, et al.
Journal of Human Genetics
|
September 13, 2020
Loss-of-function variants in NEK1 are associated with an increased risk of sporadic ALS in the Japanese population
Hiroya Naruse, Hiroyuki Ishiura, Jun Mitsui, et al.
Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases
|
June 20, 2012
Mutational analysis of familial and sporadic amyotrophic lateral sclerosis with OPTN mutations in Japanese population
Hiroya Naruse, Yuji Takahashi, Tameko Kihira, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
October 26, 2018
Burden of rare variants in causative genes for amyotrophic lateral sclerosis (ALS) accelerates age at onset of ALS
Hiroya Naruse, Hiroyuki Ishiura, Jun Mitsui, et al.
Internal Medicine (Tokyo, Japan)
|
June 28, 2026
A de novo TWNK Variant Mimicked Sporadic Chronic Progressive External Ophthalmoplegia
Chiharu Yoshida, Akatsuki Kubota, Norifumi Kawamoto, et al.
Internal Medicine (Tokyo, Japan)
|
July 2, 2019
Atypical Familial Amyotrophic Lateral Sclerosis with Slowly Progressing Lower Extremities-predominant Late-onset Muscular Weakness and Atrophy
Jumpei Togawa, Takekazu Ohi, Jun-Hui Yuan, et al.
BMC Neurology
|
November 4, 2022
Valosin-containing protein Asp395Gly mutation in a patient with frontotemporal dementia: a case report
Ryota Kobayashi, Hiroya Naruse, Shinobu Kawakatsu, et al.
Annals of Clinical and Translational Neurology
|
June 8, 2017
Partial duplication of <i>DHH</i> causes minifascicular neuropathy: A novel mutation detection of <i>DHH</i>
Naoko Saito Sato, Risa Maekawa, Hiroyuki Ishiura, et al.
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Search research articles
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Showing results (11-20 of 32) with videos related to
Sort By:
Page
of 4
Journal of the Peripheral Nervous System : JPNS
|
May 12, 2023
Noncanonical splice-site variant in peripheral myelin protein 22 gene (PMP22) in a patient with hereditary neuropathy with liability to pressure palsies
Norifumi Kawamoto, Yuichi Hamada, Shunsuke Kobayashi, et al.
Journal of Human Genetics
|
April 22, 2025
Elevated serum autotaxin levels and multiple system atrophy-like presentation in a patient with PLA2G6-associated neurodegeneration
So Okubo, Takashi Matsukawa, Norifumi Kawamoto, et al.
Internal Medicine (Tokyo, Japan)
|
June 11, 2019
Prominent Spasticity and Hyperreflexia of the Legs in a Nepalese Patient with Friedreich Ataxia
Hiroya Naruse, Yuji Takahashi, Hiroyuki Ishiura, et al.
Journal of Human Genetics
|
September 13, 2020
Loss-of-function variants in NEK1 are associated with an increased risk of sporadic ALS in the Japanese population
Hiroya Naruse, Hiroyuki Ishiura, Jun Mitsui, et al.
Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases
|
June 20, 2012
Mutational analysis of familial and sporadic amyotrophic lateral sclerosis with OPTN mutations in Japanese population
Hiroya Naruse, Yuji Takahashi, Tameko Kihira, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
October 26, 2018
Burden of rare variants in causative genes for amyotrophic lateral sclerosis (ALS) accelerates age at onset of ALS
Hiroya Naruse, Hiroyuki Ishiura, Jun Mitsui, et al.
Internal Medicine (Tokyo, Japan)
|
June 28, 2026
A de novo TWNK Variant Mimicked Sporadic Chronic Progressive External Ophthalmoplegia
Chiharu Yoshida, Akatsuki Kubota, Norifumi Kawamoto, et al.
Internal Medicine (Tokyo, Japan)
|
July 2, 2019
Atypical Familial Amyotrophic Lateral Sclerosis with Slowly Progressing Lower Extremities-predominant Late-onset Muscular Weakness and Atrophy
Jumpei Togawa, Takekazu Ohi, Jun-Hui Yuan, et al.
BMC Neurology
|
November 4, 2022
Valosin-containing protein Asp395Gly mutation in a patient with frontotemporal dementia: a case report
Ryota Kobayashi, Hiroya Naruse, Shinobu Kawakatsu, et al.
Annals of Clinical and Translational Neurology
|
June 8, 2017
Partial duplication of <i>DHH</i> causes minifascicular neuropathy: A novel mutation detection of <i>DHH</i>
Naoko Saito Sato, Risa Maekawa, Hiroyuki Ishiura, et al.
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