Zobrazeno 1 - 10
of 78
pro vyhledávání: '"Masataka Arima"'
Autor:
Yu-ichi Goto, Takashi Saito, Takeki Furue, Keishi Narita, Hirotsugu Kitayama, Keiko Maeda, Eihiko Takahashi, Shinji Yamakura, Shuhei Ide, Yuji Iwasaki, Sen Takeda, Kiyoshi Matsui, Hongmei Dai, Masayuki Itoh, Masataka Arima
Publikováno v:
Braindevelopment. 40(4)
Objective Arima syndrome (AS) is a rare disease and its clinical features mimic those of Joubert syndrome or Joubert syndrome-related diseases (JSRD). Recently, we clarified the AS diagnostic criteria and its severe phenotype. However, genetic eviden
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edc121cac4186b7a23dd2d43235e9ca6
https://pubmed.ncbi.nlm.nih.gov/29217415
https://pubmed.ncbi.nlm.nih.gov/29217415
Autor:
Harumi Nakayama, Takanori Ezoe, Naohide Shiroma, Yoshito Hirayama, Masataka Arima, Naomi Kanazawa, Katsuhito Araki, Hisaharu Suzuki, Sui Sone, Harumi Saijo, Hiroshi Hamaguchi, Seiichi Tsujino
Publikováno v:
Brain and Development. 25:362-366
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive disorder characterized by macrocephaly, deterioration of motor function with ataxia, spasticity and mental decline. It has been revealed that the mutations in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61376e4b556fbde27d834bbbbe1dce8f
https://doi.org/10.1016/s0387-7604(03)00006-8
https://doi.org/10.1016/s0387-7604(03)00006-8
Autor:
Makiko Kaga, Masataka Arima
Publikováno v:
Brain and Development. 24:52-56
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94eb73822e56cebe5023d510d2c7eb5a
https://doi.org/10.1016/s0387-7604(01)00385-0
https://doi.org/10.1016/s0387-7604(01)00385-0
Publikováno v:
Braindevelopment. 36(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f77ba59aca483c250df720e2ad08539b
https://pubmed.ncbi.nlm.nih.gov/24054506
https://pubmed.ncbi.nlm.nih.gov/24054506
Publikováno v:
Pediatrics International. 38:36-40
The Lesch-Nyhan syndrome results as a consequence of a severe deficiency of functional activity of purine salvage enzyme, hypoxanthine phosphoribosyltransferase (HPRT). We performed Southern blot analysis for five patients and their families using fu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::971894a3c7c4624dc5e0da03da4a6227
https://doi.org/10.1111/j.1442-200x.1996.tb03432.x
https://doi.org/10.1111/j.1442-200x.1996.tb03432.x
Autor:
Toshinori Kato, Sachio Takashima, Hiroshi Matsuda, Norio Sakuragawa, Masataka Arima, Hideo Yamanouchi
Publikováno v:
Pediatric Neurology. 12:286-290
Cranial magnetic resonance imaging results of 14 patients with neurofibromatosis type I were examined with T2-weighted fluid-attenuated inversion recovery pulse sequences, as well as conventional T2-weighted spin-echo sequences. Definition was better
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cec8320a1e4bea5e85b73b1dcbe475e
https://doi.org/10.1016/0887-8994(95)00045-h
https://doi.org/10.1016/0887-8994(95)00045-h
Autor:
Mina, Yokoyama, Manami, Honda, Yumi, Okoshi, Tatsuo, Masuyama, Yuji, Iwasaki, Masataka, Arima
Publikováno v:
No to hattatsu = Brain and development. 43(4)
We administered intramuscular injections of botulinum toxin type A (BTX-A) in 11 persons with cervical dystonia (CD) and muscular hypertonia (MH). All patients had severe motor and intellectual disabilities (SMID). Furthermore, in 10 patients, SMID w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::137363e44d65e676652aa304918118fc
https://pubmed.ncbi.nlm.nih.gov/21800689
https://pubmed.ncbi.nlm.nih.gov/21800689
Publikováno v:
Pediatric Neurology. 9:202-206
Visual and somatosensory evoked potentials (VEPs and SEPs) were studied in 9 patients with Rett syndrome and compared with those in 6 patients with photosensitive progressive myoclonus epilepsy (PPME). In Rett syndrome, a giant III–IV amplitude of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8fabf6d9fe9515a26c225d227ab4cda
https://doi.org/10.1016/0887-8994(93)90085-q
https://doi.org/10.1016/0887-8994(93)90085-q
Publikováno v:
Brain and Development. 13:36-39
Somatosensory evoked potentials (SEP) were recorded in ten patients with the Rett syndrome. Seven cases showed abnormal SEP, and five of these cases showed giant SEP. The five cases with giant SEP were relatively young girls with epilepsy and parieto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f611c905dbd58459a99ca0c983c9e12
https://doi.org/10.1016/s0387-7604(12)80295-6
https://doi.org/10.1016/s0387-7604(12)80295-6