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Neuromuscular Disorders : NMD
|
December 7, 2002
Down-regulation of an ankyrin repeat-containing protein, V-1, during skeletal muscle differentiation and its re-expression in the regenerative process of muscular dystrophy
Yuko Furukawa, Naohiro Hashimoto, Tohru Yamakuni, et al.
Circulation
|
May 7, 2008
Selective vacuolar degeneration in dystrophin-deficient canine Purkinje fibers despite preservation of dystrophin-associated proteins with overexpression of Dp71
Nobuyuki Urasawa, Michiko R Wada, Noboru Machida, et al.
American Journal of Medical Genetics. Part A
|
March 13, 2012
Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing
Eri Kondo, Takafumi Nishimura, Tomoki Kosho, 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.
Neuromuscular Disorders : NMD
|
February 19, 2017
A Japanese male with a novel ANO5 mutation with minimal muscle weakness and muscle pain till his late fifties
Masato Kadoya, Katsuhisa Ogata, Mikiya Suzuki, 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.
Neuromuscular Disorders : NMD
|
July 16, 2013
Elevated urinary β2 microglobulin in the first identified Japanese family afflicted by X-linked myopathy with excessive autophagy
Takashi Kurashige, Tetsuya Takahashi, Yu Yamazaki, et al.
Neuromuscular Disorders : NMD
|
March 3, 2009
ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency
Wen-Chen Liang, Aya Ohkuma, Yukiko K Hayashi, et al.
The Journal of Biological Chemistry
|
January 7, 2004
Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles
Satoru Noguchi, Yoko Keira, Kumiko Murayama, et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology
|
January 12, 2005
Dysferlinopathy associated with rigid spine syndrome
Toshiko Nagashima, Takayo Chuma, Yukio Mano, et al.
Page
of 17
Search research articles
Search
Showing results (121-130 of 169) with videos related to
Sort By:
Page
of 17
Neuromuscular Disorders : NMD
|
December 7, 2002
Down-regulation of an ankyrin repeat-containing protein, V-1, during skeletal muscle differentiation and its re-expression in the regenerative process of muscular dystrophy
Yuko Furukawa, Naohiro Hashimoto, Tohru Yamakuni, et al.
Circulation
|
May 7, 2008
Selective vacuolar degeneration in dystrophin-deficient canine Purkinje fibers despite preservation of dystrophin-associated proteins with overexpression of Dp71
Nobuyuki Urasawa, Michiko R Wada, Noboru Machida, et al.
American Journal of Medical Genetics. Part A
|
March 13, 2012
Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing
Eri Kondo, Takafumi Nishimura, Tomoki Kosho, 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.
Neuromuscular Disorders : NMD
|
February 19, 2017
A Japanese male with a novel ANO5 mutation with minimal muscle weakness and muscle pain till his late fifties
Masato Kadoya, Katsuhisa Ogata, Mikiya Suzuki, 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.
Neuromuscular Disorders : NMD
|
July 16, 2013
Elevated urinary β2 microglobulin in the first identified Japanese family afflicted by X-linked myopathy with excessive autophagy
Takashi Kurashige, Tetsuya Takahashi, Yu Yamazaki, et al.
Neuromuscular Disorders : NMD
|
March 3, 2009
ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency
Wen-Chen Liang, Aya Ohkuma, Yukiko K Hayashi, et al.
The Journal of Biological Chemistry
|
January 7, 2004
Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles
Satoru Noguchi, Yoko Keira, Kumiko Murayama, et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology
|
January 12, 2005
Dysferlinopathy associated with rigid spine syndrome
Toshiko Nagashima, Takayo Chuma, Yukio Mano, et al.
Page
of 17