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Muscle & Nerve
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July 13, 2002
CDNA microarray analysis of gene expression in fibroblasts of patients with X-linked Emery-Dreifuss muscular dystrophy
Toshifumi Tsukahara, Seiichi Tsujino, Kiichi Arahata
Pediatric Neurology
|
January 30, 2002
A novel mutation, P126R, in a Japanese patient with HHH syndrome
Takeshi Miyamoto, Naomi Kanazawa, Chiemi Hayakawa, et al.
Pediatric Neurology
|
December 7, 2007
Novel deletion mutation in GFAP gene in an infantile form of Alexander disease
Nobuyuki Murakami, Takayoshi Tsuchiya, Naomi Kanazawa, et al.
Journal of the Neurological Sciences
|
February 5, 2004
Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family
Stanley H Korman, Naomi Kanazawa, Bassam Abu-Libdeh, et al.
Brain & Development
|
September 20, 2005
An infantile-juvenile form of Alexander disease caused by a R79H mutation in GFAP
Naoko Asahina, Takayuki Okamoto, Akira Sudo, et al.
Journal of Human Genetics
|
April 8, 2011
Biochemical and structural study on a S529V mutant acid α-glucosidase responsive to pharmacological chaperones
Youichi Tajima, Seiji Saito, Kazuki Ohno, et al.
Brain & Development
|
March 20, 2004
A case of infantile Alexander disease with a milder phenotype and a novel GFAP mutation, L90P
Yoshiko Suzuki, Naomi Kanazawa, Junko Takenaka, et al.
Brain & Development
|
March 1, 2006
MR imaging and 1H-MR spectroscopy of a case of van der Knaap disease
Hideyuki Morita, Atsushi Imamura, Naoki Matsuo, et al.
Archives of Neurology
|
October 22, 2003
Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes
Michelangelo Mancuso, Massimiliano Filosto, Seiichi Tsujino, et al.
Journal of Human Genetics
|
November 15, 2003
A common mutation and a novel mutation in Japanese patients with van der Knaap disease
Seiichi Tsujino, Naomi Kanazawa, Hitoshi Yoneyama, et al.
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of 2
Search research articles
Search
Showing results (1-10 of 20) with videos related to
Sort By:
Page
of 2
Muscle & Nerve
|
July 13, 2002
CDNA microarray analysis of gene expression in fibroblasts of patients with X-linked Emery-Dreifuss muscular dystrophy
Toshifumi Tsukahara, Seiichi Tsujino, Kiichi Arahata
Pediatric Neurology
|
January 30, 2002
A novel mutation, P126R, in a Japanese patient with HHH syndrome
Takeshi Miyamoto, Naomi Kanazawa, Chiemi Hayakawa, et al.
Pediatric Neurology
|
December 7, 2007
Novel deletion mutation in GFAP gene in an infantile form of Alexander disease
Nobuyuki Murakami, Takayoshi Tsuchiya, Naomi Kanazawa, et al.
Journal of the Neurological Sciences
|
February 5, 2004
Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family
Stanley H Korman, Naomi Kanazawa, Bassam Abu-Libdeh, et al.
Brain & Development
|
September 20, 2005
An infantile-juvenile form of Alexander disease caused by a R79H mutation in GFAP
Naoko Asahina, Takayuki Okamoto, Akira Sudo, et al.
Journal of Human Genetics
|
April 8, 2011
Biochemical and structural study on a S529V mutant acid α-glucosidase responsive to pharmacological chaperones
Youichi Tajima, Seiji Saito, Kazuki Ohno, et al.
Brain & Development
|
March 20, 2004
A case of infantile Alexander disease with a milder phenotype and a novel GFAP mutation, L90P
Yoshiko Suzuki, Naomi Kanazawa, Junko Takenaka, et al.
Brain & Development
|
March 1, 2006
MR imaging and 1H-MR spectroscopy of a case of van der Knaap disease
Hideyuki Morita, Atsushi Imamura, Naoki Matsuo, et al.
Archives of Neurology
|
October 22, 2003
Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes
Michelangelo Mancuso, Massimiliano Filosto, Seiichi Tsujino, et al.
Journal of Human Genetics
|
November 15, 2003
A common mutation and a novel mutation in Japanese patients with van der Knaap disease
Seiichi Tsujino, Naomi Kanazawa, Hitoshi Yoneyama, et al.
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of 2