Výsledky vyhledávání

A 23-year follow-up report of juvenile-onset Sandhoff disease presenting with a motor neuron disease phenotype and a novel variant

Autor: Takehiko Inui, Noriko Togashi, Moriei Shibuya, Hiroyuki Ida, Satoko Miyatake, Wakaba Endo, Naomi Hino-Fukuyo, Ichiro Nakashima, Kazuhiro Haginoya, Saki Uneoka, Akira Onuma, Yukimune Okubo, Naomichi Matsumoto, Kaori Kodama

Publikováno v: Brain and Development. 43:1029-1032

Background The clinical severity of Sandhoff disease is known to vary widely. Furthermore, long-term follow-up report is very limited in the literature. Case presentation We present a long-term follow-up report of a patient with juvenile-onset Sandho

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c41db8fd1caf1bcb26c26bc83ef53890
https://doi.org/10.1016/j.braindev.2021.06.007

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GRIN1mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders

Publikováno v: Epilepsia. 56:841-848

SummaryObjective Recently, de novo mutations in GRIN1 have been identified in patients with nonsyndromic intellectual disability and epileptic encephalopathy. Whole exome sequencing (WES) analysis of patients with genetically unsolved epileptic encep

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40809a21d49d4c2a8f1bcfb6ffa4bd10
https://doi.org/10.1111/epi.12987

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A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome

Autor: Chihiro Ohba, Atsuo Kikuchi, Yusuke Takezawa, Akira Onuma, Kazuhiro Haginoya, Ichizo Nishino, Naomichi Matsumoto, Wakaba Endo, Takehiko Inui, Yosuke Kakisaka, Mai Anzai, Hirotomo Saitsu, Shigeo Kure

Publikováno v: Journal of human genetics. 62(6)

Cerebral, ocular, dental, auricular, skeletal (CODAS) syndrome is a rare autosomal recessive multisystem disorder caused by mutations in LONP1. It is characterized by intellectual disability, cataracts, delayed tooth eruption, malformed auricles and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5dc07050c46767207415e517ee78cb7
https://pubmed.ncbi.nlm.nih.gov/28148925

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Clinical Course and Images of Four Familial Cases of Allan-Herndon-Dudley Syndrome With a Novel Monocarboxylate Transporter 8 Gene Mutation

Autor: Satoru Kobayashi, Kazuhiro Haginoya, Takehiko Inui, Keiko Shimojima, Soichiro Tanaka, Akira Onuma, Keisuke Wakusawa, Toshiyuki Yamamoto

Publikováno v: Pediatric Neurology. 51:414-416

Background Allan-Herndon-Dudley syndrome, an X-linked condition characterized by severe intellectual disability, dysarthria, athetoid movements, muscle hypoplasia, and spastic paraplegia, is associated with defects in the monocarboxylate transporter

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4936b80f643ac19b7180161d55542a80
https://doi.org/10.1016/j.pediatrneurol.2014.05.004

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Intramuscular renin–angiotensin system is activated in human muscular dystrophy

Autor: Yoko Chiba, Akira Onuma, Shigeru Tsuchiya, Naomi Hino-Fukuyo, Mitsugu Uematsu, Kazuie Iinuma, Hongmei Dai, Kazuhiro Haginoya, Guilian Sun

Publikováno v: Journal of the Neurological Sciences. 280:40-48

To investigate the role of the muscular renin-angiotensin system (RAS) in human muscular dystrophy, we used immunohistochemistry and Western blotting to examine the cellular localization of angiotensin-converting enzyme (ACE), the angiotensin II type

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6ce7a99d5b4205996d664de37b13e31
https://doi.org/10.1016/j.jns.2009.01.020

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Olfactory Stimulation Using Black Pepper Oil Facilitates Oral Feeding in Pediatric Patients Receiving Long-Term Enteral Nutrition

Autor: Satoru Ebihara, Shigeru Tsuchiya, Mitsutoshi Munakata, Takae Ebihara, Junko Niisato-Nezu, Souichiro Tanaka, Yosuke Kakisaka, Kaori Kobayashi, Kazuhiro Haginoya, Akira Onuma

Publikováno v: The Tohoku Journal of Experimental Medicine. 214:327-332

Patients with severe neurological disorders often require enteral nutrition (EN). Since long-term EN can cause multiple complications, reinstating the oral intake of food is beneficial. Olfactory stimulation using black pepper oil (BPO), a strong app

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af82e8a68d03764467ec84bb62982507
https://doi.org/10.1620/tjem.214.327

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The lack of antiepileptic drugs and worsening of seizures among physically handicapped patients with epilepsy during the Great East Japan Earthquake

Autor: Satoru Kobayashi, Soichiro Tanaka, Wakaba Endo, Kazuhiro Haginoya, Akira Onuma, Keisuke Wakusawa, Takehiko Inui

Publikováno v: Braindevelopment. 38(7)

Background Takuto Rehabilitation Center for Children is located in Sendai, the capital of the Miyagi prefecture, and faces the Pacific Ocean. The tsunami caused by the Great East Japan Earthquake resulted in tremendous damage to this region. Many phy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e48b9ee523cb8de9f62e89f37a9a26c2
https://pubmed.ncbi.nlm.nih.gov/26846730

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A preliminary analysis of trace elements in the scalp hair of patients with severe motor disabilities receiving enteral nutrition

Autor: Toyoharu Tsutsui, Mitsutoshi Munakata, Hiroyuki Yokoyama, Akira Onuma, Ikuma Fujiwara, Kazuhiro Haginoya, Yasuko Kobayashi, Hiroshi Yasuda, Kazuie Iinuma

Publikováno v: Brain and Development. 28:521-525

The concentrations of essential trace elements (copper, zinc, selenium, manganese, chromium, molybdenum, cobalt, and iodine) in the scalp hair of 21 patients with severe motor disabilities receiving enteral nutrition were measured using inductively c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0cf0867c698a4a8af7fe33bc4679eda
https://doi.org/10.1016/j.braindev.2006.02.004

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Morphofunctional organization in three patients with unilateral polymicrogyria: Combined use of diffusion tensor imaging and functional magnetic resonance imaging

Autor: Mitsutoshi Munakata, Kazuie Iinuma, Kazuhiro Haginoya, Tae Oishi, Kazuhiro Takeo, Akira Onuma

Publikováno v: Brain and Development. 28:405-409

We examined the fiber organization of the brain in three patients with unilateral polymicrogyria (PMG) using diffusion tensor imaging (DTI) in combination with functional magnetic resonance imaging (fMRI). DTI revealed altered fiber tract architectur

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0ed9ab7b9eae7dd59165ac886c469df
https://doi.org/10.1016/j.braindev.2005.12.003

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