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Hereditary spastic paraplegia and extensive leukoencephalopathy: a case report of a unique phenotype associated with a GJB1/Cx32 p.Pro174Ser variant

Autor: Haruko Nakamura, Hiroshi Doi, Yosuke Miyaji, Taishi Wada, Erisa Takahashi, Mikiko Tada, Hiromi Fukuda, Atsushi Fujita, Yuichi Higashiyama, Yuri Nagao, Kazue Kimura, Masaharu Hayashi, Kyoko Hoshino, Naomichi Matsumoto, Fumiaki Tanaka

Publikováno v: BMC Neurology, Vol 24, Iss 1, Pp 1-8 (2024)

Abstract Background Pathogenic variants in Gap junction protein beta 1 (GJB1), which encodes Connexin 32, are known to cause X-linked Charcot-Marie-Tooth disease (CMTX), the second most common form of CMT. CMTX presents with the following five centra

Externí odkaz: https://doaj.org/article/0534b655aeef49dfa90fcf064f7ccf7e

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Childhood Myasthenia Gravis in Japan—Clinical Analysis of 184 Cases at Segawa Neurological Clinic for Children for 30 Years

Autor: Yoshiko Nomura, Masaya Segawa, Yuri Nagao, Kei Hachimori, Masami Segawa, Kazue Kimura

Publikováno v: Neuro-Ophthalmology. 31:201-205

Japanese childhood onset MG, 226 cases, were evaluated. The highest (50%) onset under age 3 years, the highest frequency of latent general type (50%), and negative to low positive anti-AChR Ab were found. Some showed the increase of the titer around

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7c0362b8e42777370d84b80e8af8213b
https://doi.org/10.1080/01658100701648645

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Pre-movement gating of somatosensory evoked potentials in Segawa disease

Autor: Yoshiko Nomura, Yuri Nagao, Kazue Kimura, Masaya Segawa, Masaharu Hayashi, Kei Hachimori

Publikováno v: Braindevelopment. 38(1)

Introduction Segawa disease (SD), an autosomal dominant dopa-responsive dystonia with marked diurnal fluctuation, can be clinically classified into the postural dystonia type (SD-P) and action dystonia type (SD-A). Compared to SD-A, SD-P has an earli

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea5bda4d39ef9a5fdb6a2dd235ab2f99
https://pubmed.ncbi.nlm.nih.gov/26071901

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Epilepsy in autism: A pathophysiological consideration

Autor: Yuri Nagao, Kei Hachimori, Kazue Kimura, Masaya Segawa, Yoshiko Nomura

Publikováno v: Braindevelopment. 32(10)

Eighty cases of idiopathic autism with epilepsy and 97 cases without epilepsy were studied to evaluate the pathophysiology of epilepsy in autism. The initial visit to this clinic ranged 8 months–30 years 3 months of age, and the current ages are 5

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a695dfa25dad5067b422dfd3a0f93575
https://pubmed.ncbi.nlm.nih.gov/20805019

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[Case of DYT1 dystonia (early-onset torsion dystonia) showing long-term focal dystonia in the arm]

Autor: Masaharu, Hayashi, Yuri, Nagao, Kazue, Kimura, Kei, Hachimori, Yoshiko, Nomura, Masaya, Segawa

Publikováno v: No to hattatsu = Brain and development. 40(6)

DYTI dystonia (DYT1-D, early-onset torsion dystonia) is caused by a GAG deletion in the DYTI gene. Here we report a girl with child-onset familial DYT1-D showing localized arm involvement. The patient developed postural and action dystonia in the rig

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d47763e25a849a15e29eec2d4f55c3d2
https://pubmed.ncbi.nlm.nih.gov/19039992

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