Found: 18
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Overlapping and Distinct Features of Cardiac Pathology in Inherited Human and Murine Ether Lipid Deficiency.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 3, p. 1884, doi. 10.3390/ijms24031884
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- Publication type:
- Article
Altered sodium channel function in dystrophin/utrophin-deficient cardiomyocytes.
- Published in:
- 2010
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- Publication type:
- Abstract
Ion channel impairments in dystrophic cardiomyocytes.
- Published in:
- BMC Pharmacology, 2009, v. 9, p. 1, doi. 10.1186/1471-2210-9-S2-A31
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- Publication type:
- Article
Mutation in the Scyl1 gene encoding amino-terminal kinase-like protein causes a recessive form of spinocerebellar neurodegeneration.
- Published in:
- EMBO Reports, 2007, v. 8, n. 7, p. 691, doi. 10.1038/sj.embor.7401001
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- Publication type:
- Article
Mutant glycosyltransferase and altered glycosylation of α-dystroglycan in the myodystrophy mouse.
- Published in:
- Nature Genetics, 2001, v. 28, n. 2, p. 151, doi. 10.1038/88865
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- Publication type:
- Article
Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B.
- Published in:
- Nature Genetics, 1999, v. 23, n. 2, p. 141, doi. 10.1038/13770
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- Publication type:
- Article
Voltage-Gated Ion Channel Dysfunction Precedes Cardiomyopathy Development in the Dystrophic Heart.
- Published in:
- PLoS ONE, 2011, v. 6, n. 5, p. 1, doi. 10.1371/journal.pone.0020300
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- Publication type:
- Article
A novel therapeutic approach for LPIN1 mutation-associated rhabdomyolysis-The Austrian experience.
- Published in:
- Muscle & Nerve, 2015, v. 52, n. 3, p. 437, doi. 10.1002/mus.24749
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- Publication type:
- Article
Axonal polyneuropathy in Ehlers-Danlos syndrome.
- Published in:
- 1998
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- Publication type:
- Case Study
Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 208, doi. 10.1038/ejhg.2013.108
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- Publication type:
- Article
Proteins implicated in muscular dystrophy and cancer are functional constituents of the centrosome.
- Published in:
- Life Science Alliance, 2022, v. 5, n. 11, p. 1, doi. 10.26508/lsa.202201367
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- Publication type:
- Article
Long‐term outcomes in a 25‐year‐old female affected with lipin‐1 deficiency.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2019, v. 46, n. 1, p. 4, doi. 10.1002/jmd2.12016
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- Publication type:
- Article
The expanding mutational spectrum of MERRF substitution G8361A in the mitochondrial tRNA<sup>Lys</sup> gene.
- Published in:
- Annals of Neurology, 2003, v. 54, n. 6, p. 820
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- Publication type:
- Article
Impaired muscle spindle function in murine models of muscular dystrophy.
- Published in:
- Journal of Physiology, 2020, v. 598, n. 8, p. 1591, doi. 10.1113/JP278563
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- Publication type:
- Article
DNA Damage, Somatic Aneuploidy, and Malignant Sarcoma Susceptibility in Muscular Dystrophies.
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- PLoS Genetics, 2011, v. 7, n. 4, p. 1, doi. 10.1371/journal.pgen.1002042
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- Publication type:
- Article
Accumulation of very long-chain fatty acids does not affect mitochondrial function in adrenoleukodystrophy protein deficiency.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 9, p. 1127, doi. 10.1093/hmg/ddi125
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- Publication type:
- Article
Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Largemyd mouse defines a natural model for glycosylation-deficient muscle – eye – brain disorders.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 21, p. 2673, doi. 10.1093/hmg/11.21.2673
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- Publication type:
- Article
Acute decompensated heart failure associated with a heteroplasmic 3243A>G mitochondrial DNA point mutation.
- Published in:
- European Heart Journal, 2016, v. 37, n. 21, p. 1707, doi. 10.1093/eurheartj/ehw074
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- Publication type:
- Article