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Central core disease is due to RYR1 mutations in more than 90% of patients.

• Shiwen Wu, M Carlos A Ibarra, +7 authors Ichizo Nishino
• Brain : a journal of neurology
• 2006

Ryanodine receptor 1 (RYR1) gene mutations are associated with central core disease (CCD), multiminicore disease (MmD) and malignant hyperthermia (MH), and have been reported to be responsible for… (More)

Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.

• Satoru Noguchi, Yoko Keira, +9 authors Ichizo Nishino
• The Journal of biological chemistry
• 2004

Distal myopathy with rimmed vacuoles is an autosomal recessive muscle disease with preferential involvement of the tibialis anterior that spares the quadriceps muscles in young adulthood. In a… (More)

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, +7 authors Ichizo Nishino
• Anesthesiology
• 2006

BACKGROUND Malignant hyperthermia (MH) is a disorder of calcium homeostasis in skeletal muscle triggered by volatile anesthetics or succinylcholine in susceptible persons. More than 100 mutations in… (More)

Subcellular localization of fukutin and fukutin-related protein in muscle cells.

• Hiroshi Matsumoto, Satoru Noguchi, +4 authors Ichizo Nishino
• Journal of biochemistry
• 2004

Fukuyama-type congenital muscular dystrophy and congenital muscular dystrophy 1C are congenital muscular dystrophies that commonly display reduced levels of glycosylation of alpha-dystroglycan in… (More)

Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patients in Thailand.

• Teerin Liewluck, Theeraphong Pho-iam, +7 authors Tumtip Sangruchi
• Muscle & nerve
• 2006

Distal myopathy with rimmed vacuoles (DMRV) is an early-adult-onset, distal myopathy caused by a mutation of the UDP-N-acetylglucosamine 2 epimerase/N-acetylmannosamine kinase (GNE) gene. We herein… (More)

Two novel CAV3 gene mutations in Japanese families.

• Kazuma Sugie, Kumiko Murayama, +5 authors Ichizo Nishino
• Neuromuscular disorders : NMD
• 2004

Caveolin-3 deficiency is a rare, autosomal dominant, muscle disorder caused by caveolin-3 gene (CAV3) mutations and consists of four clinical phenotypes: limb-girdle muscular dystrophy type 1C… (More)

Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism.

• Tzung-Chang Tsai, Hideo Horinouchi, +5 authors Ichizo Nishino
• Neuromuscular disorders : NMD
• 2005

X-linked myotubular myopathy is a congenital muscle disorder due to MTM1 mutation, and is characterized clinically by generalized muscle weakness and hypotonia at birth usually resulting in early… (More)

Induction of Pluripotent Stem Cells from a Manifesting Carrier of Duchenne Muscular Dystrophy and Characterization of Their X-Inactivation Status

• Yuko Miyagoe-Suzuki, Takashi Nishiyama, +8 authors Shin'ichi Takeda
• Stem cells international
• 2017

Three to eight percent of female carriers of Duchenne muscular dystrophy (DMD) develop dystrophic symptoms ranging from mild muscle weakness to a rapidly progressive DMD-like muscular dystrophy due… (More)

[Molecular diagnosis of mitochondrial DNA deletion].

• Kumiko Murayama
• Nihon rinsho. Japanese journal of clinical…
• 2002

[Molecular pathomechanism of distal myopathy with rimmed vacuoles].

• Ichizo Nishino, Satoru Noguchi, +5 authors Ikuya Nonaka
• Rinsho shinkeigaku = Clinical neurology
• 2005

Distal myopathy with rimmed vacuoles (DMRV) and hereditary inclusion body myopathy (HIBM) are genetically identical autosomal recessive muscle disorders caused by mutations in the GNE gene. This gene… (More)

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