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Cardiac fibrosis triggered by the kidney: a case report.
- Published in:
- Nephrology Dialysis Transplantation, 2006, v. 21, n. 6, p. 1713, doi. 10.1093/ndt/gfl015
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- Publication type:
- Article
Cardiac arrest in Wilson's disease after curative liver transplantation: a life‐threatening complication of myocardial copper excess?
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- ESC Heart Failure, 2019, v. 6, n. 1, p. 228, doi. 10.1002/ehf2.12395
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- Publication type:
- Article
Changes in specific gravity as a sign of disturbed brain maturation in protein-deprived rats.
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- Acta Neurologica Scandinavica, 1986, v. 73, n. 1, p. 76, doi. 10.1111/j.1600-0404.1986.tb03244.x
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- Publication type:
- Article
Hypoxic cardiac fibroblasts from failing human hearts decrease cardiomyocyte beating frequency in an ALOX15 dependent manner.
- Published in:
- PLoS ONE, 2018, p. 1, doi. 10.1371/journal.pone.0202693
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- Publication type:
- Article
Premature ageing in mice expressing defective mitochondrial DNA polymerase.
- Published in:
- Nature, 2004, v. 429, n. 6990, p. 417, doi. 10.1038/nature02517
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- Publication type:
- Article
Subnormal levels of POLγA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and progressive external ophthalmoplegia.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 25, p. 5295, doi. 10.1093/hmg/ddt491
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- Publication type:
- Article
Subnormal levels of POLγA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and autosomal dominant progressive external ophthalmoplegia.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 12, p. 2411, doi. 10.1093/hmg/ddt094
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- Publication type:
- Article
Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 6, p. 801, doi. 10.1038/ejhg.2013.250
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- Publication type:
- Article
B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 5, p. 707, doi. 10.1038/ejhg.2013.223
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- Publication type:
- Article
Reply to Brodehl et al.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 6, p. 590, doi. 10.1038/ejhg.2012.214
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- Publication type:
- Article
A novel mitochondrial tRNA Arg mutation resulting in an anticodon swap in a patient with mitochondrial encephalomyopathy.
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- European Journal of Human Genetics, 2013, v. 21, n. 5, p. 571, doi. 10.1038/ejhg.2012.153
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- Publication type:
- Article
Epidemiology, Survival, and Clinical Characteristics of Inclusion Body Myositis.
- Published in:
- Annals of Neurology, 2022, v. 92, n. 2, p. 201, doi. 10.1002/ana.26412
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- Publication type:
- Article
A new muscle glycogen storage disease associated with glycogenin-1 deficiency.
- Published in:
- Annals of Neurology, 2014, v. 76, n. 6, p. 891, doi. 10.1002/ana.24284
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- Publication type:
- Article
Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1.
- Published in:
- Annals of Neurology, 2013, v. 74, n. 6, p. 914, doi. 10.1002/ana.23963
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- Publication type:
- Article
Myosinopathies: pathology and mechanisms.
- Published in:
- Acta Neuropathologica, 2013, v. 125, n. 1, p. 3, doi. 10.1007/s00401-012-1024-2
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- Publication type:
- Article
Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies.
- Published in:
- Acta Neuropathologica, 2011, v. 121, n. 2, p. 253, doi. 10.1007/s00401-010-0754-2
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- Publication type:
- Article
“Necklace” fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy.
- Published in:
- Acta Neuropathologica, 2009, v. 117, n. 3, p. 283, doi. 10.1007/s00401-008-0472-1
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- Publication type:
- Article
Alzheimer pathology associated with POLG1 mutation, multiple mtDNA deletions, and APOE4/4: premature ageing or just coincidence?
- Published in:
- Acta Neuropathologica, 2005, v. 110, n. 3, p. 315, doi. 10.1007/s00401-005-1047-z
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- Publication type:
- Article
An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids.
- Published in:
- Acta Neuropathologica Communications, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1186/s40478-019-0843-y
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- Publication type:
- Article
Cardiac involvement in immune-mediated necrotizing myopathy: insights from CMR and somatostatin receptor PET/CT.
- Published in:
- European Heart Journal - Cardiovascular Imaging, 2022, v. 23, n. 5, p. e237, doi. 10.1093/ehjci/jeab262
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- Publication type:
- Article
Contrast echocardiography reveals apparently normal coronary perfusion in a rat model of stress-induced (Takotsubo) cardiomyopathy.
- Published in:
- 2014
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- Publication type:
- Journal Article
Contrast echocardiography reveals apparently normal coronary perfusion in a rat model of stress-induced (Takotsubo) cardiomyopathy.
- Published in:
- European Heart Journal - Cardiovascular Imaging, 2014, v. 15, n. 2, p. 152, doi. 10.1093/ehjci/jet079
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- Publication type:
- Article
Normal apical myocardial perfusion in the rat model with Takotsubo syndrome: is subsequent microvascular dysfunction and hypoperfusion an epiphenomenon? Reply.
- Published in:
- 2014
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- Publication type:
- Journal Article
Normal apical myocardial perfusion in the rat model with Takotsubo syndrome: is subsequent microvascular dysfunction and hypoperfusion an epiphenomenon? Reply.
- Published in:
- 2014
- By:
- Publication type:
- Letter
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 9, p. 984, doi. 10.1038/ejhg.2012.39
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- Publication type:
- Article
Mutations and sequence variation in the human myosin heavy chain IIa gene (MYH2).
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 617, doi. 10.1038/sj.ejhg.5201375
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- Publication type:
- Article
Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutations.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 4, p. 463, doi. 10.1038/sj.ejhg.5201341
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- Publication type:
- Article
Anticipation of autosomal dominant progressive external ophthalmoplegia with hypogonadism.
- Published in:
- 1996
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- Publication type:
- journal article
Pathogenetic aspects of the A8344G mutation of mitochondrial DNA associated with MERRF syndrome and multiple symmetric lipomas.
- Published in:
- Muscle & Nerve, 1995, v. 18, n. S14, p. S102, doi. 10.1002/mus.880181421
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- Publication type:
- Article
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.
- Published in:
- Nature Genetics, 2007, v. 39, n. 9, p. 1134, doi. 10.1038/ng2086
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- Publication type:
- Article
Limited T-Cell Receptor V Gene Usage in Inclusion Body Myositis.
- Published in:
- Scandinavian Journal of Immunology, 1996, v. 43, n. 1, p. 109, doi. 10.1046/j.1365-3083.1996.d01-10.x
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- Publication type:
- Article
Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage.
- Published in:
- 2019
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- Publication type:
- journal article
Dominantly inherited myosin IIa myopathy caused by aberrant splicing of MYH2.
- Published in:
- 2022
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- Publication type:
- journal article
Diagnosis, management, and outcome of cardiac sarcoidosis and giant cell myocarditis: a Swedish single center experience.
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- 2022
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- Publication type:
- journal article
Inclusion body myositis with early onset: a population-based study.
- Published in:
- Journal of Neurology, 2023, v. 270, n. 11, p. 5483, doi. 10.1007/s00415-023-11878-w
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- Publication type:
- Article
Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods.
- Published in:
- 2016
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- Publication type:
- Letter
A novel MYH2 mutation in family members presenting with congenital myopathy, ophthalmoplegia and facial weakness.
- Published in:
- Journal of Neurology, 2016, v. 263, n. 7, p. 1427, doi. 10.1007/s00415-016-8154-8
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- Publication type:
- Article
Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations.
- Published in:
- Journal of Neurology, 2014, v. 261, n. 5, p. 870, doi. 10.1007/s00415-014-7287-x
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- Publication type:
- Article
Defective regulation of contractile function in muscle fibres carrying an E41K β-tropomyosin mutation.
- Published in:
- Journal of Physiology, 2008, v. 586, n. 12, p. 2993, doi. 10.1113/jphysiol.2008.153650
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- Publication type:
- Article
Effects of a R133W β-tropomyosin mutation on regulation of muscle contraction in single human muscle fibres.
- Published in:
- Journal of Physiology, 2007, v. 581, n. 3, p. 1283, doi. 10.1113/jphysiol.2007.129759
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- Publication type:
- Article
Impaired insulin secretion and β-cell loss in tissue-specific knockout mice with mitochondrial diabetes.
- Published in:
- Nature Genetics, 2000, v. 26, n. 3, p. 336, doi. 10.1038/81649
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- Publication type:
- Article
Dilated cardiomyopathy and atrioventricular conduction blocks induced by heart-specific inactivation of mitochondrial DNA gene expression.
- Published in:
- Nature Genetics, 1999, v. 21, n. 1, p. 133, doi. 10.1038/5089
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- Publication type:
- Article
Proteomic profiling of polyglucosan bodies associated with glycogenin‐1 deficiency in skeletal muscle.
- Published in:
- Neuropathology & Applied Neurobiology, 2024, v. 50, n. 3, p. 1, doi. 10.1111/nan.12995
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- Publication type:
- Article
Respiratory chain dysfunction in perifascicular muscle fibres in patients with dermatomyositis is associated with mitochondrial DNA depletion.
- Published in:
- Neuropathology & Applied Neurobiology, 2022, v. 48, n. 7, p. 1, doi. 10.1111/nan.12841
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- Publication type:
- Article
Proteomic characterisation of polyglucosan bodies in skeletal muscle in RBCK1 deficiency.
- Published in:
- Neuropathology & Applied Neurobiology, 2022, v. 48, n. 1, p. 1, doi. 10.1111/nan.12761
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- Publication type:
- Article
Progressive external ophthalmoplegia associated with novel MT‐TN mutations.
- Published in:
- Acta Neurologica Scandinavica, 2021, v. 143, n. 1, p. 103, doi. 10.1111/ane.13339
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- Publication type:
- Article
Association between muscle strength, histopathology, and magnetic resonance imaging in sporadic inclusion body myositis.
- Published in:
- Acta Neurologica Scandinavica, 2019, v. 139, n. 2, p. 177, doi. 10.1111/ane.13040
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- Publication type:
- Article
RBCK1‐related disease: A rare multisystem disorder with polyglucosan storage, auto‐inflammation, recurrent infections, skeletal, and cardiac myopathy—Four additional patients and a review of the current literature.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 1002, doi. 10.1002/jimd.12234
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- Publication type:
- Article
TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 5, p. 898, doi. 10.1002/jimd.12149
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- Publication type:
- Article
Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 1, p. 139, doi. 10.1007/s10545-016-9978-1
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- Publication type:
- Article