Found: 17
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Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 174, doi. 10.1186/s13023-014-0174-9
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- Publication type:
- Article
Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1.
- Published in:
- 2014
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- Publication type:
- journal article
Lamin A/C Mutants Disturb Sumo1 Localization and Sumoylation in Vitro and in Vivo.
- Published in:
- PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0045918
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- Publication type:
- Article
Apoptosis-Inducing Factor Regulates Skeletal Muscle Progenitor Cell Number and Muscle Phenotype.
- Published in:
- PLoS ONE, 2011, v. 6, n. 11, p. 1, doi. 10.1371/journal.pone.0027283
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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
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
Nuclear accumulation of androgen receptor in gender difference of dilated cardiomyopathy due to lamin A/C mutations.
- Published in:
- Cardiovascular Research, 2013, v. 99, n. 3, p. 382, doi. 10.1093/cvr/cvt106
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- Publication type:
- Article
Heterozygous LmnadelK32 mice develop dilated cardiomyopathy through a combined pathomechanism of haploinsufficiency and peptide toxicity.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 15, p. 3152, doi. 10.1093/hmg/ddt172
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- Publication type:
- Article
DelK32-lamin A/C has abnormal location and induces incomplete tissue maturation and severe metabolic defects leading to premature death.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 5, p. 1037, doi. 10.1093/hmg/ddr534
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- Publication type:
- Article
Cellular and Genomic Features of Muscle Differentiation from Isogenic Fibroblasts and Myoblasts.
- Published in:
- Cells (2073-4409), 2023, v. 12, n. 15, p. 1995, doi. 10.3390/cells12151995
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- Publication type:
- Article
Protein Kinase C Alpha Cellular Distribution, Activity, and Proximity with Lamin A/C in Striated Muscle Laminopathies.
- Published in:
- Cells (2073-4409), 2020, v. 9, n. 11, p. 2388, doi. 10.3390/cells9112388
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- Publication type:
- Article
Consequences of Lmna Exon 4 Mutations in Myoblast Function.
- Published in:
- Cells (2073-4409), 2020, v. 9, n. 5, p. 1286, doi. 10.3390/cells9051286
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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
The Pathogenesis and Therapies of Striated Muscle Laminopathies.
- Published in:
- Frontiers in Physiology, 2018, p. 1, doi. 10.3389/fphys.2018.01533
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- Publication type:
- Article
New Insights on Signaling Pathways Deregulated in LAP1-Deficient Cells: A Proteomics Study †.
- Published in:
- Biology & Life Sciences Forum, 2023, v. 21, n. 1, p. 25, doi. 10.3390/blsf2023021025
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- Publication type:
- Article
Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 4, p. 694, doi. 10.1093/hmg/ddq515
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- Publication type:
- Article
Laminopathies : un seul gène, de nombreuses pathologies.
- Published in:
- 2011
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- Publication type:
- Abstract