Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Mio, Ichiba"'
Autor:
Seigo Fujita, Mio Ichiba, Toshiro Fujimoto, Kouzo Takeuchi, Masayuki Nakamura, Takanori Ishizuka, Akira Sano
Publikováno v:
Dementia and Geriatric Cognitive Disorders. 33:132-140
Background: Mutations in the presenilin-1 gene (PSEN1) have been identified in autosomal dominant early-onset cases of Alzheimer’s disease (AD). Aims: To investigate different clinical phenotypes of siblings possessing the same heterozygous P264L m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9bb700343bbf26a1fcc24f38a9a1043
https://doi.org/10.1159/000338394
https://doi.org/10.1159/000338394
Autor:
Nari Shiokawa, Yoko Tomiyasu, Masayuki Nakamura, Mieko Matsuda, Fujio Umehara, Takehiro Hayashi, Kimiyoshi Arimura, Satsuki Mori, Takanori Ishizuka, Mio Ichiba, Yukie Inamori, Akira Sano, Yuji Okamoto, Yoshiaki Nakabeppu, Akiyuki Tomiyasu, Maiko Kato, Hirochika Shimo
Publikováno v:
Psychiatry and Clinical Neurosciences. 65:105-108
Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by a deficiency of arylsulfatase A. MLD is a heterogeneous disease with variable age at onset and variable clinical features. We evaluated a 33-year-old fem
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::74c1215ad4cb912d7de0a700971df9ba
https://doi.org/10.1111/j.1440-1819.2010.02169.x
https://doi.org/10.1111/j.1440-1819.2010.02169.x
Autor:
Yutaka Kurano, Mio Ichiba, Mieko Matsuda, Emiko Mizuno, Akira Sano, Shuji Izumo, Asumi Agemura, Masayuki Nakamura, Maiko Kato
Publikováno v:
Biochemical and Biophysical Research Communications. 353:431-435
Chorea-acanthocytosis (ChAc) is a hereditary neurodegenerative disorder caused by loss of function mutations in the VPS13A gene encoding chorein. In this study, we produced an antibody against chorein and examined its protein-level expression and loc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d8ac6c5c37636c95ba7897874cab85d
https://doi.org/10.1016/j.bbrc.2006.12.059
https://doi.org/10.1016/j.bbrc.2006.12.059
Autor:
Masayuki Nakamura, Akira Sano, Mio Ichiba, Koichi Wakabayashi, Yasuo Miki, Makoto Nishie, Mitsuomi Kaimori, Masaya Ogawa, Fumiaki Mori
Publikováno v:
Acta Neuropathologica. 119:271-273
Chorea-acanthocytosis (ChAc) is caused by loss of function mutations of VPS13A gene encoding the large disease protein named chorein [8, 10]. However, McLeod syndrome, Huntington’s disease-like 2, and pantothenate kinase-associated neurodegeneratio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::83d9acec1712aaacd8f22e3323707828
https://doi.org/10.1007/s00401-009-0617-x
https://doi.org/10.1007/s00401-009-0617-x
Publikováno v:
Dementia and geriatric cognitive disorders. 31(5)
Background/Aims: Semantic dementia (SD) is a clinical subclassification of frontotemporal lobar degeneration. Patients with ‘pure SD’ present with semantic memory impairment preceding the frontal symptoms, and there have been no reports of famili
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::baedcb4a93d524b7f6ef969ce28dc74e
https://pubmed.ncbi.nlm.nih.gov/21555888
https://pubmed.ncbi.nlm.nih.gov/21555888
Autor:
Takehiro, Hayashi, Masayuki, Nakamura, Mio, Ichiba, Mieko, Matsuda, Maiko, Kato, Nari, Shiokawa, Hirochika, Shimo, Akiyuki, Tomiyasu, Satsuki, Mori, Yoko, Tomiyasu, Takanori, Ishizuka, Yukie, Inamori, Yuji, Okamoto, Fujio, Umehara, Kimiyoshi, Arimura, Yoshiaki, Nakabeppu, Akira, Sano
Publikováno v:
Psychiatry and clinical neurosciences. 65(1)
Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by a deficiency of arylsulfatase A. MLD is a heterogeneous disease with variable age at onset and variable clinical features. We evaluated a 33-year-old fem
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9becf1b348bc96c85b6e75bafda9c58e
https://pubmed.ncbi.nlm.nih.gov/21265945
https://pubmed.ncbi.nlm.nih.gov/21265945
Publikováno v:
Neuroscience research. 69(3)
Neuroacanthocytosis syndromes are mainly comprised of two diseases: chorea-acanthocytosis (ChAc) and McLeod syndrome (MLS). There is a high incidence of psychiatric disorders such as mood disorder and schizophrenia among neuroacanthocytosis patients.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e208af7670c538c3634462311147130
https://pubmed.ncbi.nlm.nih.gov/21145924
https://pubmed.ncbi.nlm.nih.gov/21145924
Autor:
Shu-ichi Ueno, Akira Sano, Itsuro Higuchi, Akiyuki Tomiyasu, Mio Ichiba, Maiko Kato, Masayuki Nakamura, Hirochika Shimo
Publikováno v:
Neuroscience research. 69(4)
It has been suggested that mitochondrial dysfunction is important in the pathogenesis of psychiatric disorders such as depression, schizophrenia and dementia. We report herein three adult patients exhibiting such psychiatric symptoms as the core mani
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dda82267f1bcf6ce8cf5aa49503fc9fd
https://pubmed.ncbi.nlm.nih.gov/21185889
https://pubmed.ncbi.nlm.nih.gov/21185889
Publikováno v:
Brain and nerve = Shinkei kenkyu no shinpo. 60(6)
Neuroacanthocytosis is an inclusive term for a genetically heterogeneous group of disorders characterized by the association of neurological abnormalities with red cell acanthocytosis. In the late 1960s, Levine et al. reported a family with a syndrom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3fa437d1d18dfce7c8baa79a7fb8ce58
https://pubmed.ncbi.nlm.nih.gov/18567359
https://pubmed.ncbi.nlm.nih.gov/18567359
Autor:
M. Katoh, K. Yutaka, Shu-ichi Ueno, Y. Katoh, Mio Ichiba, Akira Sano, Mieko Matsuda, Yutaka Kurano, Masayuki Nakamura
Publikováno v:
Neuroacanthocytosis Syndromes II ISBN: 9783540716921
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5fa56bc6cb56ca2b511b5c9b77b1f06a
https://doi.org/10.1007/978-3-540-71693-8_12
https://doi.org/10.1007/978-3-540-71693-8_12
