Found: 31
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Clinical profiles and prognosis of acute heart failure in adult patients with dystrophinopathies on home mechanical ventilation.
- Published in:
- ESC Heart Failure, 2017, v. 4, n. 4, p. 527, doi. 10.1002/ehf2.12165
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- Publication type:
- Article
LAMA2-Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD.
- Published in:
- Journal of Neuromuscular Diseases, 2023, v. 10, n. 1, p. 125, doi. 10.3233/JND-221555
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- Publication type:
- Article
Improved Cardiac Outcomes by Early Treatment with Angiotensin-Converting Enzyme Inhibitors in Becker Muscular Dystrophy.
- Published in:
- Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 495, doi. 10.3233/JND-200620
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- Publication type:
- Article
Laminopathies' Treatments Systematic Review: A Contribution Towards a 'Treatabolome'.
- Published in:
- Journal of Neuromuscular Diseases, 2021, v. 8, n. 3, p. 419, doi. 10.3233/JND-200596
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- Publication type:
- Article
Lamin A/C Assembly Defects in LMNA-Congenital Muscular Dystrophy Is Responsible for the Increased Severity of the Disease Compared with Emery–Dreifuss Muscular Dystrophy.
- Published in:
- Cells (2073-4409), 2020, v. 9, n. 4, p. 844, doi. 10.3390/cells9040844
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- Publication type:
- Article
Left bundle branch block in Duchenne muscular dystrophy: Prevalence, genetic relationship and prognosis.
- Published in:
- PLoS ONE, 2018, v. 13, n. 1, p. 1, doi. 10.1371/journal.pone.0190518
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- Publication type:
- Article
Becker muscular dystrophy severity is linked to the structure of dystrophin.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 5, p. 1267, doi. 10.1093/hmg/ddu537
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- Publication type:
- Article
Variable phenotype of del45-55 Becker patients correlated with nNOSµ mislocalization and RYR1 hypernitrosylation.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 15, p. 3449, doi. 10.1093/hmg/dds176
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- Publication type:
- Article
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 8, p. 855, doi. 10.1038/ejhg.2012.269
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- Publication type:
- Article
Very Low Residual Dystrophin Quantity Is Associated with Milder Dystrophinopathy.
- Published in:
- Annals of Neurology, 2021, v. 89, n. 2, p. 280, doi. 10.1002/ana.25951
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- Publication type:
- Article
Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 6, p. 647, doi. 10.1038/ejhg.2010.256
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- Publication type:
- Article
Première réunion franco-italienne des laminopathies et autres pathologies liées à l'enveloppe nucléaire.
- Published in:
- Médecine Sciences, 2015, v. 31, p. 39, doi. 10.1051/medsci/201531s311
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- Publication type:
- Article
Emery–Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure.
- Published in:
- European Heart Journal, 2023, v. 44, n. 48, p. 5064, doi. 10.1093/eurheartj/ehad561
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- Publication type:
- Article
miR-708-5p and miR-34c-5p are involved in nNOS regulation in dystrophic context.
- Published in:
- Skeletal Muscle, 2018, v. 8, n. 1, p. N.PAG, doi. 10.1186/s13395-018-0161-2
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- Publication type:
- Article
Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 45, doi. 10.1186/1750-1172-7-45
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- Publication type:
- Article
International retrospective natural history study of LMNA-related congenital muscular dystrophy.
- Published in:
- Brain Communications, 2021, v. 3, n. 3, p. 1, doi. 10.1093/braincomms/fcab075
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- Publication type:
- Article
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.
- Published in:
- 2009
- By:
- Publication type:
- Other
MLIP : un nouveau gène de rhabdomyolyse.
- Published in:
- Médecine Sciences, 2021, v. 37, p. 48, doi. 10.1051/medsci/2021193
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- Publication type:
- Article
Meta-analysis of clinical characteristics of 299 carriers ofLMNAgene mutations: do lamin A/C mutations portend a high risk of sudden death?
- Published in:
- Journal of Molecular Medicine, 2005, v. 83, n. 1, p. 79, doi. 10.1007/s00109-004-0589-1
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- Publication type:
- Article
Preclinical Advances of Therapies for Laminopathies.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 21, p. 4834, doi. 10.3390/jcm10214834
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- Publication type:
- Article
Laminopathies : un seul gène, de nombreuses pathologies.
- Published in:
- 2011
- By:
- Publication type:
- Abstract
Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy—analysis of registry data.
- Published in:
- European Heart Journal, 2021, v. 42, n. 20, p. 1976, doi. 10.1093/eurheartj/ehab054
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- Publication type:
- Article
Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome.
- Published in:
- 2021
- By:
- Publication type:
- corrected article
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Determinants of diaphragm inspiratory motion, diaphragm thickening, and its performance for predicting respiratory restrictive pattern in Duchenne muscular dystrophy.
- Published in:
- Muscle & Nerve, 2022, v. 65, n. 1, p. 89, doi. 10.1002/mus.27432
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- Publication type:
- Article
Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Pediatric laminopathies: Whole-body magnetic resonance imaging fingerprint and comparison with Sepn1 myopathy.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Cardioembolic stroke prompting diagnosis of LMNA-associated Emery-Dreifuss muscular dystrophy.
- Published in:
- Muscle & Nerve, 2011, v. 44, n. 4, p. 587, doi. 10.1002/mus.22179
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- Publication type:
- Article
Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation.
- Published in:
- Annals of Neurology, 2010, v. 67, n. 1, p. 136, doi. 10.1002/ana.21839
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- Publication type:
- Article
De novo LMNA mutations cause a new form of congenital muscular dystrophy.
- Published in:
- Annals of Neurology, 2008, v. 64, n. 2, p. 177, doi. 10.1002/ana.21417
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- Publication type:
- Article