Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Ayumi Takamura"'
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101019- (2023)
Neuronal ceroid lipofuscinosis type1(CLN1), is a one form of the group of neuronal ceroid lipofuscinoses (NCLs), which is a neurodegenerative disorder characterized by progressive psychomotor deterioration, ataxia, epilepsy, and visual impairment. Ne
Externí odkaz:
https://doaj.org/article/f2ab642ae0ed4edf9000bdf25e7d8674
Autor:
Susumu Kanzaki, Kei Murayama, Jun Murakami, Toshiko Umeda, Rei Nishimura, Yoshikatsu Eto, Ayumi Takamura, Naomi Kuranobu, Ken Okamoto
Publikováno v:
Hepatology Research. 46:477-482
Cholesterol ester storage disease (CESD) is an autosomal recessive disorder caused by deficient lysosomal acid lipase (LAL) activity, resulting in cholesteryl ester (CE) accumulation. CESD patients have liver disease associated with mixed dyslipidemi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8b32a8b5331d86143a51663185687a61
https://doi.org/10.1111/hepr.12574
https://doi.org/10.1111/hepr.12574
Autor:
Minoru Kouzuki, Syouta Nakamura, Ayumi Takamura, Tetsuya Suzuki, Yuto Katsumata, Katsuya Urakami, Masaya Nagano
Publikováno v:
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. 49
Carotid plaque score (PS) and hemodynamic abnormalities in intra- and extra-cranial arteries are related to Alzheimer's disease (AD) progression. As these parameters are measured conveniently and non-invasively by ultrasonography, we examined their a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::034ad509efbb90009e4e0716e602838c
https://pubmed.ncbi.nlm.nih.gov/29249541
https://pubmed.ncbi.nlm.nih.gov/29249541
Autor:
Minoru Kouzuki, Ayumi Takamura, Tetsuya Suzuki, Syouta Nakamura, Masaya Nagano, Yuto Katsumata, Katsuya Urakami
Publikováno v:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 39(2)
Patients with Alzheimer’s disease (AD) develop olfactory and gustatory disorders. However, the order of failure and relevance of the pathophysiology are unclear. We compared olfactory identification and whole mouth gustation in patients with AD to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03d796ee3894286bde55066fdde352e1
https://pubmed.ncbi.nlm.nih.gov/29128987
https://pubmed.ncbi.nlm.nih.gov/29128987
Autor:
Hironao Numabe, Rina Itagaki, Chen Wu, Takashi Miyajima, Takayuki Yokoi, Kenji Kurosawa, Hiroko Yanagisawa, Yoshikatsu Eto, Ayumi Takamura, Kaoru Eto, Takeo Iwamoto, Keiko Akiyama, Mohammad Arif Hossain
Publikováno v:
Molecular genetics and metabolism. 120(3)
Heterozygous Fabry females usually have an attenuated form of Fabry disease, causing them to be symptomatic; however, in rare cases, they can present with a severe phenotype. In this study, we report on a 37-year-old woman with acroparesthesia, a dys
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47cdf01d4d84c4f4ea1cc84cc84a030e
https://pubmed.ncbi.nlm.nih.gov/28087245
https://pubmed.ncbi.nlm.nih.gov/28087245
Autor:
Etsuro Matsubara1 etsuro@cc.hirosaki-u.ac.jp, Ayumi Takamura1,2, Yasuhide Okamoto3, Hideto Oono1, Takashi Nakata1, Yasuhito Wakasaya1, Takeshi Kawarabayashi1, Mikio Shoji1
Publikováno v:
BioMed Research International. 2013, Vol. 2013, p1-6. 6p.
Autor:
Shin Matsuda, Norio Sakai, Ayumi Takamura, Toya Ohashi, Atsuko Noguchi, Aya Narita, Kosaku Ohno, Tsutomu Takahashi, Michiko Shinpoo, Masanari Yamamoto, Yoshikatsu Eto, Hiroyuki Ida
Publikováno v:
Molecular Genetics and Metabolism. 110:401-404
Niemann-Pick disease type C (NP-C) is an autosomal recessive lysosomal lipid storage disorder characterized with accumulation of cholesterol in endosomes and lysosomes. The diagnosis of NP-C is difficult due to its heterogeneous group of diseases. Bi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::090b3496c714d6fdd700c067184fe6e3
https://doi.org/10.1016/j.ymgme.2013.08.006
https://doi.org/10.1016/j.ymgme.2013.08.006
Autor:
Noriko Aida, Atsuko Tomita-Katsumoto, Hiroshi Doi, Chihiro Ohba, Sumimasa Yamashita, Kiyomi Nishiyama, Hirotomo Saitsu, Hitoshi Osaka, Yoshikatsu Eto, Ayumi Takamura, Nobuyuki Shimozawa, Yoshinori Tsurusaki, Mitsuko Nakashima, Mizue Iai, Fumiaki Tanaka, Yume Suzuki, Naomichi Matsumoto, Noriko Miyake
Publikováno v:
neurogenetics. 14:225-232
Cerebellar and/or vermis atrophy is recognized in various types of childhood disorders with clinical and genetic heterogeneity. Although careful evaluation of clinical features and neuroimaging can lead to correct diagnosis of disorders, their diagno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a97a15b82fa5e7f3c7553417cf4cacad
https://doi.org/10.1007/s10048-013-0375-8
https://doi.org/10.1007/s10048-013-0375-8
Autor:
Takeshi Kawarabayashi, Ayumi Takamura, Yasuhito Wakasaya, Yasuhide Okamoto, Etsuro Matsubara, Takashi Nakata, Mikio Shoji, Hideto Oono
Publikováno v:
BioMed Research International
BioMed Research International, Vol 2013 (2013)
BioMed Research International, Vol 2013 (2013)
Several lines of evidence indicate that amyloidβ(Aβ), particularly Aβoligomers (AβOs), plays a causative role in Alzheimer's disease. However, the mechanisms underlying the action of an anti-AβO antibody to clarify the toxic action of AβOs rema
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ecd9463e9cad68728c67209e7cc762e
https://doi.org/10.1155/2013/984041
https://doi.org/10.1155/2013/984041
Autor:
Katsumi Higaki, Tomoko Takai, Ayumi Takamura, Yoshiyuki Suzuki, Haruaki Ninomiya, Kousaku Ohno, Masami Iida, Junichiro Matsuda, Eiji Nanba
Publikováno v:
Journal of Neurochemistry. 118:399-406
G(M1) -gangliosidosis is a fatal neurodegenerative disorder caused by deficiency of lysosomal acid β-galactosidase (β-gal). Accumulation of its substrate ganglioside G(M1) (G(M1) ) in lysosomes and other parts of the cell leads to progressive neuro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f9a7fe545383ec8d65fa59aa2c28f32e
https://doi.org/10.1111/j.1471-4159.2011.07310.x
https://doi.org/10.1111/j.1471-4159.2011.07310.x