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Journal of Medical Genetics
|
March 19, 2011
Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing
Yoshinori Tsurusaki, Hitoshi Osaka, Haruka Hamanoue, et al.
Brain & Development
|
May 14, 2014
Effect of CYP2C19 polymorphisms on stiripentol administration in Japanese cases of Dravet syndrome
Takeshi Kouga, Hiroko Shimbo, Mizue Iai, et al.
Magnetic Resonance Imaging
|
July 28, 2012
Monitoring the brain metabolites of children with acute encephalopathy caused by the H1N1 virus responsible for the 2009 influenza pandemic: a quantitative in vivo 1H MR spectroscopy study
Moyoko Tomiyasu, Noriko Aida, Yoshihiro Watanabe, et al.
Brain & Development
|
November 10, 2025
A pediatric case of anti-PF4 antibody-induced cerebral venous sinus thrombosis and thrombocytopenia following adenovirus infection: a literature review
Kohei Nagai, Tadahiro Mitani, Yuta Kawahara, et al.
Brain & Development
|
January 5, 2016
A splicing mutation of proteolipid protein 1 in Pelizaeus-Merzbacher disease
Taku Omata, Jun-Ichi Nagai, Hiroko Shimbo, et al.
Journal of Neurology
|
February 18, 2014
Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies
Yurika Numata, Leo Gotoh, Akiko Iwaki, et al.
Journal of Neurochemistry
|
March 11, 2004
Proteomic analysis of brain proteins in the gracile axonal dystrophy (gad) mouse, a syndrome that emanates from dysfunctional ubiquitin carboxyl-terminal hydrolase L-1, reveals oxidation of key proteins
Alessandra Castegna, Visith Thongboonkerd, Jon Klein, et al.
Pharmaceutical Research
|
March 4, 2020
Cyclocreatine Transport by SLC6A8, the Creatine Transporter, in HEK293 Cells, a Human Blood-Brain Barrier Model Cell, and CCDSs Patient-Derived Fibroblasts
Tatsuki Uemura, Shingo Ito, Takeshi Masuda, et al.
Brain & Development
|
September 5, 2021
Novel variants in aromatic L-amino acid decarboxylase deficiency: Case report of sisters with mild phenotype
Yuiko Hasegawa, Eriko Nishi, Yuko Mishima, et al.
Journal of Human Genetics
|
December 5, 2014
Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy
Hirofumi Kodera, Hitoshi Osaka, Mizue Iai, et al.
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of 22
Search research articles
Search
Showing results (81-90 of 218) with videos related to
Sort By:
Page
of 22
Journal of Medical Genetics
|
March 19, 2011
Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing
Yoshinori Tsurusaki, Hitoshi Osaka, Haruka Hamanoue, et al.
Brain & Development
|
May 14, 2014
Effect of CYP2C19 polymorphisms on stiripentol administration in Japanese cases of Dravet syndrome
Takeshi Kouga, Hiroko Shimbo, Mizue Iai, et al.
Magnetic Resonance Imaging
|
July 28, 2012
Monitoring the brain metabolites of children with acute encephalopathy caused by the H1N1 virus responsible for the 2009 influenza pandemic: a quantitative in vivo 1H MR spectroscopy study
Moyoko Tomiyasu, Noriko Aida, Yoshihiro Watanabe, et al.
Brain & Development
|
November 10, 2025
A pediatric case of anti-PF4 antibody-induced cerebral venous sinus thrombosis and thrombocytopenia following adenovirus infection: a literature review
Kohei Nagai, Tadahiro Mitani, Yuta Kawahara, et al.
Brain & Development
|
January 5, 2016
A splicing mutation of proteolipid protein 1 in Pelizaeus-Merzbacher disease
Taku Omata, Jun-Ichi Nagai, Hiroko Shimbo, et al.
Journal of Neurology
|
February 18, 2014
Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies
Yurika Numata, Leo Gotoh, Akiko Iwaki, et al.
Journal of Neurochemistry
|
March 11, 2004
Proteomic analysis of brain proteins in the gracile axonal dystrophy (gad) mouse, a syndrome that emanates from dysfunctional ubiquitin carboxyl-terminal hydrolase L-1, reveals oxidation of key proteins
Alessandra Castegna, Visith Thongboonkerd, Jon Klein, et al.
Pharmaceutical Research
|
March 4, 2020
Cyclocreatine Transport by SLC6A8, the Creatine Transporter, in HEK293 Cells, a Human Blood-Brain Barrier Model Cell, and CCDSs Patient-Derived Fibroblasts
Tatsuki Uemura, Shingo Ito, Takeshi Masuda, et al.
Brain & Development
|
September 5, 2021
Novel variants in aromatic L-amino acid decarboxylase deficiency: Case report of sisters with mild phenotype
Yuiko Hasegawa, Eriko Nishi, Yuko Mishima, et al.
Journal of Human Genetics
|
December 5, 2014
Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy
Hirofumi Kodera, Hitoshi Osaka, Mizue Iai, et al.
Page
of 22