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Muscle & Nerve
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October 30, 2021
Assessment of thrombocytopenia, sleep apnea, and cardiac involvement in GNE myopathy patients
Madoka Mori-Yoshimura, Ayano Kimura, Ayumi Tsuru, et al.
Biochemical and Biophysical Research Communications
|
February 21, 2006
Expression profiling of muscles from Fukuyama-type congenital muscular dystrophy and laminin-alpha 2 deficient congenital muscular dystrophy; is congenital muscular dystrophy a primary fibrotic disease?
Mariko Taniguchi, Hiroki Kurahashi, Satoru Noguchi, et al.
Orphanet Journal of Rare Diseases
|
September 2, 2017
Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan
Mariko Okubo, Kanako Goto, Hirofumi Komaki, et al.
Human Molecular Genetics
|
March 15, 2006
Aberrant neuromuscular junctions and delayed terminal muscle fiber maturation in alpha-dystroglycanopathies
Mariko Taniguchi, Hiroki Kurahashi, Satoru Noguchi, et al.
Journal of the Neurological Sciences
|
October 27, 2018
Three novel recessive DYSF mutations identified in three patients with muscular dystrophy, limb-girdle, type 2B
Mariko Okubo, Aritoshi Iida, Shinichiro Hayashi, et al.
Neurology. Genetics
|
April 12, 2016
Milder forms of muscular dystrophy associated with POMGNT2 mutations
Yukari Endo, Mingrui Dong, Satoru Noguchi, et al.
Anesthesiology
|
May 30, 2006
Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing
Carlos A Ibarra M, Shiwen Wu, Kumiko Murayama, et al.
Journal of Neurology
|
February 15, 2025
Anti-mitochondrial M2 antibody-positive myositis may be an independent subtype of autoimmune myositis
Yukako Nishimori, Jantima Tanboon, Munenori Oyama, et al.
Brain & Development
|
September 23, 2008
A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI
Terumi Murakami, Yukiko K Hayashi, Megumu Ogawa, et al.
Brain : a Journal of Neurology
|
April 20, 2006
Central core disease is due to RYR1 mutations in more than 90% of patients
Shiwen Wu, M Carlos A Ibarra, May Christine V Malicdan, et al.
Page
of 17
Search research articles
Search
Showing results (111-120 of 170) with videos related to
Sort By:
Page
of 17
Muscle & Nerve
|
October 30, 2021
Assessment of thrombocytopenia, sleep apnea, and cardiac involvement in GNE myopathy patients
Madoka Mori-Yoshimura, Ayano Kimura, Ayumi Tsuru, et al.
Biochemical and Biophysical Research Communications
|
February 21, 2006
Expression profiling of muscles from Fukuyama-type congenital muscular dystrophy and laminin-alpha 2 deficient congenital muscular dystrophy; is congenital muscular dystrophy a primary fibrotic disease?
Mariko Taniguchi, Hiroki Kurahashi, Satoru Noguchi, et al.
Orphanet Journal of Rare Diseases
|
September 2, 2017
Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan
Mariko Okubo, Kanako Goto, Hirofumi Komaki, et al.
Human Molecular Genetics
|
March 15, 2006
Aberrant neuromuscular junctions and delayed terminal muscle fiber maturation in alpha-dystroglycanopathies
Mariko Taniguchi, Hiroki Kurahashi, Satoru Noguchi, et al.
Journal of the Neurological Sciences
|
October 27, 2018
Three novel recessive DYSF mutations identified in three patients with muscular dystrophy, limb-girdle, type 2B
Mariko Okubo, Aritoshi Iida, Shinichiro Hayashi, et al.
Neurology. Genetics
|
April 12, 2016
Milder forms of muscular dystrophy associated with POMGNT2 mutations
Yukari Endo, Mingrui Dong, Satoru Noguchi, et al.
Anesthesiology
|
May 30, 2006
Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing
Carlos A Ibarra M, Shiwen Wu, Kumiko Murayama, et al.
Journal of Neurology
|
February 15, 2025
Anti-mitochondrial M2 antibody-positive myositis may be an independent subtype of autoimmune myositis
Yukako Nishimori, Jantima Tanboon, Munenori Oyama, et al.
Brain & Development
|
September 23, 2008
A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI
Terumi Murakami, Yukiko K Hayashi, Megumu Ogawa, et al.
Brain : a Journal of Neurology
|
April 20, 2006
Central core disease is due to RYR1 mutations in more than 90% of patients
Shiwen Wu, M Carlos A Ibarra, May Christine V Malicdan, et al.
Page
of 17