Výsledky vyhledávání - "Akihito Suenaga"

Specificity of ω-conotoxin MVIIC-binding and -blocking calcium channel antibodies in Lambert-Eaton myasthenic syndrome

Autor: Shigenobu Nagataki, Mitsuhiro Tsujihata, Masao Itoh, Masataka Mori, Masakatsu Motomura, Toshiro Yoshimura, Akihito Suenaga, Yoko Nakao, Tatsufumi Nakamura

Publikováno v: Journal of Neurology. 246:38-44

An immunoprecipitation assay was used to measure omega-conotoxin MVIIC (P/Q-type) binding and blocking calcium channel antibodies in 67 patients with Lambert-Eaton myasthenic syndrome (LEMS) and in a large control population. We first showed the pres

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6851839ed74ba573d097e0ea95301657
https://doi.org/10.1007/s004150050303

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A Family of Hereditary Neuropathy with Liability to Pressure Palsies with a Proband Who Developed Right and Left Foot Drop Successively Following the Left Radial Nerve Palsy

Autor: Akio Ohnishi, Tatsunori Yamamoto, Akihito Suenaga

Publikováno v: Journal of UOEH. 21:227-234

A 41-year-old man developed multifocal mononeuropathies manifesting right and left foot drop successively, following the left radial nerve palsy as an initial symptom. Based on the neurological findings and the results of the genetic study of periphe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5471160eef0a9e8a54d6c167ff6fa3d8
https://doi.org/10.7888/juoeh.21.227

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Characterization of a Nonsense Mutation in the Ceruloplasmin Gene Resulting in Diabetes and Neurodegenerative Disease

Autor: Jonathan D. Gitlin, Shigenobu Nagataki, Susumu Shirabe, Hiroaki Miyajima, Yoshitomo Takahashi, Akihito Suenaga

Publikováno v: Human Molecular Genetics. 5:81-84

We report here on the characterization of a mutation in the ceruloplasmin gene in a 45 year old woman with insulin-dependent diabetes mellitus who presented with the recent onset of gait disturbance and dysarthria. Physical examination revealed an at

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bdffb01942080bf1ba17e6fdfd6e88d9
https://doi.org/10.1093/hmg/5.1.81

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[A case of Mycobacterium fortuitum meningitis following surgery for meningioma]

Autor: Keita, Fujikawa, Akihito, Suenaga, Masakatsu, Motomura, Taku, Fukuda, Nobuharu, Ooe, Katsumi, Eguchi

Publikováno v: Rinsho shinkeigaku = Clinical neurology. 46(7)

A 57-year-old woman had undergone surgery for meningioma. After the surgery, she suffered from repeated fever and headache. One year after surgery, she was admitted to our hospital for further examination. Cerebro-spinal fluid (CSF) findings indicate

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::11efd9c8423326db5a33e2780b8a0daf
https://pubmed.ncbi.nlm.nih.gov/17061701

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Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency

Publikováno v: Journal of human genetics. 52(4)

Carbamoylphosphate synthetase I deficiency (CPS1D) is a urea-cycle disorder characterized by episodes of life-threatening hyperammonemia. Correct diagnosis is crucial for patient management, but is difficult to make from clinical presentation and con

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53bdcb76441d85cd1049ba45f3ea46a1
https://pubmed.ncbi.nlm.nih.gov/17310273

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Seronegative myasthenia gravis associated with atonic urinary bladder and accommodative insufficiency

Autor: Yoshie Matsui, Shinji Oono, Makoto Matsui, Mitsuhiro Ohta, Yasuo Kuroda, Akihito Suenaga, Masashi Enoki

Publikováno v: Journal of the Neurological Sciences. 133:197-199

We report a 20-year-old female with generalized myasthenia gravis (MG) who developed atonic urinary bladder and accommodative insufficiency. Although her sera did not contain antibodies to either nicotinic acetylcholine receptor (AChR) or voltage-gat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1ecaaa3b05687c6256ca45b7910b1c4
https://doi.org/10.1016/0022-510x(95)00192-5

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Mutations of the notch3 gene in non-caucasian patients with suspected CADASIL syndrome

Autor: Guy A. Rouleau, Kunimasa Arima, Takeshi Tabira, Masayasu Matsumoto, Kohei Kamimura, Haruki Yamada, George A. Kuchel, Satoshi Kotorii, Akihito Suenaga, Keikichi Takahashi, Makoto Uchino, Eiichiro Uyama, Takeshi Nishio

Publikováno v: Dementia and geriatric cognitive disorders. 12(3)

The Notch3 gene has been recently identified as a causative gene for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). To investigate the genetic contribution of Notch mutations in familial cases wi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05ad216993c30162e6f821731dafd50f
https://pubmed.ncbi.nlm.nih.gov/11244211

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