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CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations.
- Published in:
- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1186/s40478-020-01084-4
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- Publication type:
- 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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- Publication type:
- Article
A nationwide survey on marinesco-sjögren syndrome in Japan.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-58
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- Article
A nationwide survey on Marinesco-Sjögren syndrome in Japan.
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- 2014
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- Publication type:
- journal article
Inter-mitochondrial complementation: Mitochondria-specific system preventing mice from expression of disease phenotypes by mutant mtDNA.
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- Nature Medicine, 2001, v. 7, n. 8, p. 934, doi. 10.1038/90976
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- Article
A Nationwide Survey on Danon Disease in Japan.
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- International Journal of Molecular Sciences, 2018, v. 19, n. 11, p. 3507, doi. 10.3390/ijms19113507
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- Article
Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy.
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- 2009
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- Publication type:
- journal article
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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- Article
Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 772, doi. 10.1002/ajmg.a.35243
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- Publication type:
- Article
Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model.
- Published in:
- Nature Medicine, 2009, v. 15, n. 6, p. 690, doi. 10.1038/nm.1956
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- Publication type:
- Article
Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes.
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- Nature Genetics, 2000, v. 26, n. 2, p. 176, doi. 10.1038/82826
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- Article
Changes in mitochondrial homeostasis and redox status in astronauts following long stays in space.
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- Scientific Reports, 2016, p. 39015, doi. 10.1038/srep39015
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- Article
Rimmed Vacuoles in Becker Muscular Dystrophy Have Similar Features with Inclusion Myopathies.
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- PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0052002
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- Publication type:
- Article
Early Onset of Lipofuscin Accumulation in Dystrophin-Deficient Skeletal Muscles of DMD Patients and mdx Mice.
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- Journal of Molecular Histology, 2004, v. 35, n. 5, p. 489, doi. 10.1023/B:HIJO.0000045947.83628.a7
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- Article
Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy.
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- Current Neurology & Neuroscience Reports, 2005, v. 5, n. 1, p. 61, doi. 10.1007/s11910-005-0025-0
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- Publication type:
- Article
Cardiopulmonary dysfunction in patients with limb-girdle muscular dystrophy 2A.
- Published in:
- 2017
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- Publication type:
- journal article
Respiratory and cardiac function in japanese patients with dysferlinopathy.
- Published in:
- 2016
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- Publication type:
- journal article
Clinical and genetic analysis of lipid storage myopathies.
- Published in:
- Muscle & Nerve, 2009, v. 39, n. 3, p. 333, doi. 10.1002/mus.21167
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- Publication type:
- 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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- Publication type:
- Article
Negative result in search for human alpha-dystrobrevin deficiency.
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- Muscle & Nerve, 2003, v. 28, n. 3, p. 387, doi. 10.1002/mus.10441
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- Article
A new form of muscular dystrophy with mitochondrial structural abnormalities.
- Published in:
- 2001
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- Publication type:
- Case Study
Transforming growth factor-β2 is elevated in skeletal muscle disorders.
- Published in:
- Muscle & Nerve, 1999, v. 22, n. 7, p. 889, doi. 10.1002/(SICI)1097-4598(199907)22:7<889::AID-MUS12>3.0.CO;2-B
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- Publication type:
- Article
Effective adenovirus-mediated gene expression in adult murine skeletal muscle.
- Published in:
- 1999
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- Publication type:
- journal article
Mitochondrial abnormalities in selenium-deficient myopathy.
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- 1998
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- Publication type:
- journal article
A new congenital muscular dystrophy with mitochondrial structural abnormalities.
- Published in:
- 1998
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- Publication type:
- journal 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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- Publication type:
- Article
Fatal cerebral hemorrhage in mitochondrial encephalomyopathy.
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- Journal of Neurology, 2006, v. 253, n. 4, p. 529, doi. 10.1007/s00415-005-0010-1
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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- Article
Intranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy.
- Published in:
- Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01482-w
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- Publication type:
- Article
Dysferlinopathy associated with rigid spine syndrome.
- Published in:
- Neuropathology, 2004, v. 24, n. 4, p. 341, doi. 10.1111/j.1440-1789.2004.00573.x
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- Publication type:
- Article
A case of Werdnig-Hoffmann disease showing extensive sensory involvement after prolonged mechanical ventilation.
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- Neuropathology, 1997, v. 17, n. 3, p. 230, doi. 10.1111/j.1440-1789.1997.tb00044.x
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- Publication type:
- Article
Myopathy, Unique Clinical Features, and Brain Malformations Mimicking Fukuyama Congenital Muscular Dystrophy: A Case Report.
- Published in:
- Neuropathology, 1993, v. 13, n. 4, p. 253, doi. 10.1111/j.1440-1789.1993.tb00205.x
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- Publication type:
- Article
Mitochondrial fission factor Drp1 is essential for embryonic development and synapse formation in mice.
- Published in:
- Nature Cell Biology, 2009, v. 11, n. 8, p. 958, doi. 10.1038/ncb1907
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- Publication type:
- Article
Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model mice.
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- Brain: A Journal of Neurology, 2014, v. 137, n. 10, p. 2670, doi. 10.1093/brain/awu210
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- Publication type:
- Article
Central core disease is due to RYR1 mutations in more than 90% of patients.
- Published in:
- Brain: A Journal of Neurology, 2006, v. 129, n. 6, p. 1470
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- Publication type:
- Article
Clinical picture of a case of diabetes with mitochondrial tRNA mutation at position 3271.
- Published in:
- 1996
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- Publication type:
- Case Study
Ultrastructural detection of DNA fragmentation in myonuclei of fatal reducing body myopathy.
- Published in:
- Acta Neuropathologica, 2004, v. 107, n. 5, p. 439, doi. 10.1007/s00401-004-0831-5
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- Publication type:
- Article
Dysferlin expression in tubular aggregates: their possible relationship to endoplasmic reticulum stress.
- Published in:
- Acta Neuropathologica, 2003, v. 105, n. 6, p. 603, doi. 10.1007/s00401-003-0686-1
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- Publication type:
- Article
Apoptosis is suspended in muscle of mitochondrial encephalomyopathies.
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- Acta Neuropathologica, 2002, v. 103, n. 6, p. 531, doi. 10.1007/s00401-001-0502-8
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- Publication type:
- Article
Apoptotic muscle fiber degeneration in distal myopathy with rimmed vacuoles.
- Published in:
- Acta Neuropathologica, 2001, v. 101, n. 1, p. 9, doi. 10.1007/s004010000249
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- Publication type:
- Article
Expression of MyoD and myogenin in dystrophic mice, mdx and dy, during regeneration.
- Published in:
- Acta Neuropathologica, 2000, v. 99, n. 6, p. 619, doi. 10.1007/s004010051172
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- Publication type:
- Article
Nebulin is normally expressed in nemaline myopathy.
- Published in:
- Acta Neuropathologica, 1999, v. 97, n. 5, p. 433, doi. 10.1007/s004010051011
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- Publication type:
- Article