Works matching AU Nonaka, Ikuya
Results: 136
Schwann cell myelination occurred without basal lamina formation in laminin α2 chain-null mutant ( dy<sup>3K</sup>/ dy<sup>3K</sup>) mice.
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- Glia, 2001, v. 35, n. 2, p. 101, doi. 10.1002/glia.1075
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- Article
Immunostaining of skeletal and cardiac muscle surface membrane with antibody against Duchenne muscular dystrophy peptide.
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- Nature, 1988, v. 333, n. 6176, p. 861, doi. 10.1038/333861a0
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- Article
Cardiac ankyrin repeat protein is preferentially induced in atrophic myofibers of congenital myopathy and spinal muscular atrophy.
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- Pathology International, 2003, v. 53, n. 10, p. 653, doi. 10.1046/j.1440-1827.2003.01541.x
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- Article
Skeletal muscle gene expression in space-flown rats.
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- FASEB Journal, 2004, v. 18, n. 3, p. 522, doi. 10.1096/fj.03-0419fje
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- Article
Three novel MTM1 pathogenic variants identified in Japanese patients with X‐linked myotubular myopathy.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 5, p. N.PAG, doi. 10.1002/mgg3.621
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- Article
Altered Expression of ARPP Protein in Skeletal Muscles of Patients with Muscular Dystrophy, Congenital Myopathy and Spinal Muscular Atrophy.
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- Pathobiology, 2004, v. 71, n. 1, p. 43, doi. 10.1159/000072961
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- Article
Newly recognized exons induced by a splicing abnormality from an intronic mutation of the dystrophin gene resulting in Duchenne muscular dystrophy.
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- Human Mutation, 1999, v. 13, n. 2, p. 170, doi. 10.1002/(SICI)1098-1004(1999)13:2<170::AID-HUMU12>3.0.CO;2-7
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- Article
Hypoparathyroidism and insulin-dependent diabetes mellitus in a patient with Kearns-Sayre syndrome harbouring a mitochondrial DNA deletion.
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- Clinical Endocrinology, 1996, v. 45, n. 5, p. 637, doi. 10.1046/j.1365-2265.1996.00856.x
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- Article
Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions.
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- Journal of Human Genetics, 2008, v. 53, n. 7, p. 598, doi. 10.1007/s10038-008-0289-8
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- Article
Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan.
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- Journal of Human Genetics, 2004, v. 49, n. 2, p. 92, doi. 10.1007/s10038-003-0116-1
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- Article
Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy.
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- Human Molecular Genetics, 2011, v. 20, n. 19, p. 3841, doi. 10.1093/hmg/ddr305
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- Article
A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.
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- Human Molecular Genetics, 2007, v. 16, n. 21, p. 2647, doi. 10.1093/hmg/ddm231
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- Article
A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.
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- Human Molecular Genetics, 2007, v. 16, n. 22, p. 2669, doi. 10.1093/hmg/ddm220
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- Article
A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.
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- Human Molecular Genetics, 2007, v. 16, n. 2, p. 115, doi. 10.1093/hmg/ddl446
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- Article
Aberrant neuromuscular junctions and delayed terminal muscle fiber maturation in α-dystroglycanopathies.
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- Human Molecular Genetics, 2006, v. 15, n. 8, p. 1279, doi. 10.1093/hmg/ddl045
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- Article
Myoclonus epilepsy associated with ragged-red fibers: A G-to-A mutation at nucleotide pair 8363 in mitochondrial tRNA<sup>Lys</sup> in two families.
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- Muscle & Nerve, 1997, v. 20, n. 3, p. 271, doi. 10.1002/(SICI)1097-4598(199703)20:3<271::AID-MUS2>3.0.CO;2-8
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- Article
The 3260 mutation in mitochondrial DNA can cause mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS).
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- 1996
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- Publication type:
- journal article
Deficiency of laminin α2-Chain mRNA in muscle in a patient with merosin-negative congenital muscular dystrophy.
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- Muscle & Nerve, 1995, v. 18, n. 9, p. 1027, doi. 10.1002/mus.880180918
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- Article
Mitochondrial DNA mutation and muscle pathology in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes.
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- Muscle & Nerve, 1995, v. 18, n. S14, p. S113, doi. 10.1002/mus.880181423
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- Article
The molecular genetic basis of myophosphorylase deficiency (McArdle's disease).
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- Muscle & Nerve, 1995, v. 18, n. S14, p. S23, doi. 10.1002/mus.880181407
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- Article
Inflammatory response in facioscapulohumeral muscular dystrophy (FSHD): Immunocytochemical and genetic analyses.
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- Muscle & Nerve, 1995, v. 18, n. S13, p. S56, doi. 10.1002/mus.880181312
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- Article
Cloning and mapping of a very short (10-kb) EcoRI fragment associated with facioscapulohumeral muscular dystrophy (FSHD).
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- Muscle & Nerve, 1995, v. 18, n. S13, p. S27, doi. 10.1002/mus.880181307
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- Article
Chloroquine treated rat: A possible model for alzheimer's disease.
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- Muscle & Nerve, 1995, v. 18, n. 1, p. 123, doi. 10.1002/mus.880180120
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- Article
Expression of utrophin (dystrophin-related protein) and dystrophin-associated glycoproteins in muscles from patients with Duchenne muscular dystrophy.
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- Muscle & Nerve, 1994, v. 17, n. 2, p. 206, doi. 10.1002/mus.880170212
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- Article
'All-or-none' cytochrome C oxidase positivity in mitochondria in chronic progressive external ophthalmoplegia: An ultrastructural-cytochemical study.
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- Muscle & Nerve, 1993, v. 16, n. 2, p. 206, doi. 10.1002/mus.880160215
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- Article
An experimental model of mitochondrial myopathy: Germanium-induced myopathy and coenzyme Q<sub>10</sub> administration.
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- Muscle & Nerve, 1992, v. 15, n. 11, p. 1258, doi. 10.1002/mus.880151107
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- Article
Segmental cytochrome c-oxidase deficiency in CPEO: Teased muscle fiber analysis.
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- Muscle & Nerve, 1992, v. 15, n. 2, p. 209, doi. 10.1002/mus.880150213
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- Article
Muscle histology in becker muscular dystrophy.
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- Muscle & Nerve, 1991, v. 14, n. 11, p. 1067, doi. 10.1002/mus.880141105
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- Article
α-Glucosidase isoenzymes in normal and acid maltase-deficient human skeletal muscles.
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- Muscle & Nerve, 1988, v. 11, n. 4, p. 365, doi. 10.1002/mus.880110413
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- Article
Immunohistochemical localization of AMP deaminase in rimmed vacuoles in human skeletal muscle.
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- Muscle & Nerve, 1987, v. 10, n. 9, p. 790, doi. 10.1002/mus.880100904
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- Article
Localization of calcium-activated neutral protease (CANP) in the peripheral nerve.
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- 1985
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- Publication type:
- journal article
An electron microscopical study of the T-system in biopsied muscles from fukuyama type congenital muscular dystrophy.
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- Muscle & Nerve, 1984, v. 7, n. 8, p. 629, doi. 10.1002/mus.880070806
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- Article
Regenerative capability of skeletal muscle in chicken muscular dystrophy.
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- Muscle & Nerve, 1984, v. 7, n. 5, p. 400, doi. 10.1002/mus.880070510
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- Article
Malignant hyperthermia and related neuromuscular diseases: Caffeine contracture of the skinned muscle fibers.
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- Muscle & Nerve, 1983, v. 6, n. 7, p. 510, doi. 10.1002/mus.880060707
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- Article
Letters to the editor.
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- Muscle & Nerve, 1983, v. 6, n. 1, p. 75, doi. 10.1002/mus.880060113
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- Article
In vivo administration of a thiol protease inhibitor, E-64-C, to hereditary dystrophic chicken.
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- Muscle & Nerve, 1982, v. 5, n. 9, p. 738, doi. 10.1002/mus.880050914
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- Article
Myosin light chain components in single muscle fibers of duchenne muscular dystrophy.
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- Muscle & Nerve, 1982, v. 5, n. 5, p. 399, doi. 10.1002/mus.880050511
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- Article
Muscle histochemistry in congenital muscular dystrophy with central nervous system involvement.
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- Muscle & Nerve, 1982, v. 5, n. 2, p. 102, doi. 10.1002/mus.880050204
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- Article
The significance of type 2C muscle fibers in duchenne muscular dystrophy.
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- Muscle & Nerve, 1981, v. 4, n. 4, p. 326, doi. 10.1002/mus.880040409
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- Article
Duchenne muscular dystrophy: Unusual activation of single fibers in vitro.
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- Muscle & Nerve, 1981, v. 4, n. 1, p. 10, doi. 10.1002/mus.880040104
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- Article
Sarcolemmopathy: Muscular Dystrophies with Cell Membrane Defects.
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- Brain Pathology, 2001, v. 11, n. 2, p. 218, doi. 10.1111/j.1750-3639.2001.tb00394.x
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- Article
Myopathy and neurogenic muscular atrophy in unexpected cardiopulmonary arrest.
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- Pediatrics International, 2011, v. 53, n. 2, p. 159, doi. 10.1111/j.1442-200X.2010.03211.x
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- Article
Severe infantile myotubular myopathy with complete atrioventricular block.
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- Pediatrics International, 2008, v. 50, n. 5, p. 698, doi. 10.1111/j.1442-200X.2008.02719.x
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- Article
Progressive Muscular Dystrophy with Particular Reference to Muscle Regeneration.
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- Pediatrics International, 1991, v. 33, n. 2, p. 222, doi. 10.1111/j.1442-200X.1991.tb01547.x
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- Article
MELAS, Myoclonus, Ataxia and Deficiencies of Complexes I and IV in Muscle Mitochondria.
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- Pediatrics International, 1987, v. 29, n. 5, p. 761, doi. 10.1111/j.1442-200X.1987.tb00375.x
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- Article
McArdle Disease: Familial Variety of Muscle Phosphorylase Activity in Two Siblings.
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- Pediatrics International, 1984, v. 26, n. 1, p. 10, doi. 10.1111/j.1442-200X.1984.tb00593.x
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- Article
Cardiopulmonary dysfunction in patients with limb-girdle muscular dystrophy 2A.
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- 2017
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- Publication type:
- journal article
Respiratory and cardiac function in japanese patients with dysferlinopathy.
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- 2016
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- Publication type:
- journal article
Clinical and genetic analysis of lipid storage myopathies.
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- Muscle & Nerve, 2009, v. 39, n. 3, p. 333, doi. 10.1002/mus.21167
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- Article
Unfolded protein response and aggresome formation in hereditary reducing-body myopathy.
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- Muscle & Nerve, 2007, v. 35, n. 3, p. 322, doi. 10.1002/mus.20691
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- Article