Works matching DE "MUSCULAR dystrophy genetics"
Results: 118
Cellular and molecular mechanisms underlying muscular dystrophy.
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- Journal of Cell Biology, 2013, v. 201, n. 4, p. 499, doi. 10.1083/jcb.201212142
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- Article
LGMD2E is the most common type of sarcoglycanopathies in the Iranian population.
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- Journal of Neurogenetics, 2017, v. 31, n. 3, p. 161, doi. 10.1080/01677063.2017.1346093
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- Article
Twenty-Year Clinical Progression of Dysferlinopathy in Patients from Dagestan.
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- Frontiers in Neurology, 2017, v. 8, p. 1, doi. 10.3389/fneur.2017.00077
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- Article
Cardiomypathy and Atrioventricular Block in Emery-Dreifuss Muscular Dystrophy.
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- Angiology, 2002, v. 53, n. 1, p. 109, doi. 10.1177/000331970205300116
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- Article
Gene discovery could prevent onset of MD.
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- Medical Journal of Australia, 2017, v. 206, n. 3, p. 102, doi. 10.5694/mja17.n2002
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- Article
Surgical correction of spinal deformity in patients with congenital muscular dystrophy.
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- Journal of Orthopaedic Science, 2010, v. 15, n. 4, p. 493, doi. 10.1007/s00776-010-1486-9
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- Article
Genetics and Epigenetics of Progressive Fascioscapulohumeral (Landouzy–Dejerine) Muscular Dystrophy.
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- Russian Journal of Genetics, 2003, v. 39, n. 2, p. 147, doi. 10.1023/A:1022471523757
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- Article
Oculopharyngeal muscular dystrophy in Hispanic New Mexicans.
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- 2001
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- journal article
Anesthetic Management for Patients with Limb-Girdle Muscular Dystrophy.
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- International Student Journal of Nurse Anesthesia, 2023, v. 22, n. 2, p. 32
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- Article
Magnetic resonance imaging patterns of muscle involvement in genetic muscle diseases: a systematic review.
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- Journal of Neurology, 2017, v. 264, n. 7, p. 1320, doi. 10.1007/s00415-016-8350-6
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- Article
M-quantile Regression Analysis of Temporal Gene Expression Data.
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- Statistical Applications in Genetics & Molecular Biology, 2009, v. 8, n. 1, p. 1, doi. 10.2202/1544-6115.1452
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- Article
An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy.
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- Nature, 1998, v. 394, n. 6691, p. 388, doi. 10.1038/28653
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- Article
Amelioration of the dystrophic phenotype of mdx mice using a truncated utrophin transgene.
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- Nature, 1996, v. 384, n. 6607, p. 349, doi. 10.1038/384349a0
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- Article
Cognitive function in facioscapulohumeral dystrophy correlates with the molecular defect.
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- Genes, Brain & Behavior, 2009, v. 8, n. 1, p. 53, doi. 10.1111/j.1601-183X.2008.00442.x
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- Article
Laing Early-onset Distal Myopathy Due to the MYH7 Mutation in an Iranian Family.
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- Journal of Pediatrics Review, 2020, v. 8, n. 1, p. 35, doi. 10.32598/jpr.8.1.35
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- Article
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy.
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- Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0224-0
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- Article
Neuronal expression of the fukutin gene.
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- Human Molecular Genetics, 2000, v. 9, n. 20, doi. 10.1093/hmg/9.20.3083
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- Article
Interchromosomal repeat array interactions between chromosomes 4 and 10: a model for subtelomeric plasticity.
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- Human Molecular Genetics, 2000, v. 9, n. 19, p. 2879, doi. 10.1093/hmg/9.19.2879
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- Article
Animal models for muscular dystrophy: valuable tools for the development of therapies.
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- Human Molecular Genetics, 2000, v. 9, n. 16, doi. 10.1093/hmg/9.16.2459
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- Article
Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy.
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- Human Molecular Genetics, 2000, v. 9, n. 15, p. 2335, doi. 10.1093/oxfordjournals.hmg.a018926
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- Article
Myotilin is mutated in limb girdle muscular dystrophy 1A.
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- Human Molecular Genetics, 2000, v. 9, n. 14, p. 2141, doi. 10.1093/hmg/9.14.2141
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- Article
Dystrophin and utrophin influence fiber type composition and post-synaptic membrane structure.
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- Human Molecular Genetics, 2000, v. 9, n. 9, doi. 10.1093/hmg/9.9.1357
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- Article
Myopathy phenotype of transgenic mice expressing active site-mutated inactive p94 skeletal muscle-specific calpain, the gene product responsible for limb girdle muscular dystrophy type 2A.
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- Human Molecular Genetics, 2000, v. 9, n. 9, doi. 10.1093/hmg/9.9.1393
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- Article
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B).
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- Human Molecular Genetics, 2000, v. 9, n. 9, doi. 10.1093/hmg/9.9.1453
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- Article
Myoferlin, a candidate gene and potential modifier of muscular dystrophy.
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- Human Molecular Genetics, 2000, v. 9, n. 2, p. 217, doi. 10.1093/hmg/9.2.217
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- Article
Novel mutations and genotype-phenotype relationship in 107 families with Fukuyama-type congential muscular dystrophy (FCMD).
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- Human Molecular Genetics, 1999, v. 8, n. 12, p. 2303, doi. 10.1093/hmg/8.12.2303
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- Article
Heart to heart: from nuclear proteins to Emery-Dreifuss muscular dystrophy.
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- Human Molecular Genetics, 1999, v. 8, n. 10, p. 1847, doi. 10.1093/hmg/8.10.1847
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- Article
The limb-girdle muscular dystrophies--multiple genes, multiple mechanisms.
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- Human Molecular Genetics, 1999, v. 8, n. 10, p. 1875, doi. 10.1093/hmg/8.10.1875
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- Article
Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy.
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- Human Molecular Genetics, 1999, v. 8, n. 7, p. 1329, doi. 10.1093/hmg/8.7.1329
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- Article
Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis.
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- Human Molecular Genetics, 1998, v. 7, n. 8, p. 1207, doi. 10.1093/hmg/7.8.1207
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- Article
Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression.
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- Human Molecular Genetics, 1998, v. 7, n. 5, p. 855, doi. 10.1093/hmg/7.5.855
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- Article
Caveolin-3 in muscular dystrophy.
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- Human Molecular Genetics, 1998, v. 7, n. 5, p. 871, doi. 10.1093/hmg/7.5.871
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- Article
Emerin deletions occurring on both Xq28 inversion backgrounds.
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- Human Molecular Genetics, 1998, v. 7, n. 1, p. 135, doi. 10.1093/hmg/7.1.135
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- Article
Large genomic deletions: A novel cause of Ullrich congenital muscular dystrophy.
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- Annals of Neurology, 2011, v. 69, n. 1, p. 206, doi. 10.1002/ana.22283
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- Article
Preimplantation Diagnosis of Non-Deletion Duchenne Muscular Dystrophy (DMD) by Linkage PCR Analysis.
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- Journal of Assisted Reproduction & Genetics, 1997, v. 14, n. 8, p. 450
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- Article
Whole genome sequencing reveals a 7 base-pair deletion in DMD exon 42 in a dog with muscular dystrophy.
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- Mammalian Genome, 2017, v. 28, n. 3/4, p. 106, doi. 10.1007/s00335-016-9675-2
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- Article
Aspecte clinico - genetice în distrofinopatii.
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- Journal for Neurology & Psychiatry of Child & Adolescent in Romania, 2015, v. 18, n. 4, p. 5
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- Article
Extreme Maternal Metabolic Acidosis Leading to Fetal Distress and Emergency Caesarean Section.
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- Case Reports in Obstetrics & Gynecology, 2013, p. 1, doi. 10.1155/2013/847942
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- Article
Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C).
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- Case Reports in Genetics, 2016, p. 1, doi. 10.1155/2016/9280812
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- Article
Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine.
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- European Journal of Human Genetics, 2015, v. 23, n. 6, p. 883, doi. 10.1038/ejhg.2014.169
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- Article
A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.
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- European Journal of Human Genetics, 2014, v. 22, n. 4, p. 480, doi. 10.1038/ejhg.2013.169
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- Article
Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O.
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- European Journal of Human Genetics, 2012, v. 20, n. 9, p. 945, doi. 10.1038/ejhg.2012.40
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- Article
A Novel Lamin A Mutant Responsible for Congenital Muscular Dystrophy Causes Distinct Abnormalities of the Cell Nucleus.
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- PLoS ONE, 2017, v. 12, n. 1, p. 1, doi. 10.1371/journal.pone.0169189
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- Article
Characterization of WWP1 protein expression in skeletal muscle of muscular dystrophy chickens.
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- Journal of Biochemistry, 2016, v. 159, n. 2, p. 171, doi. 10.1093/jb/mvv084
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- Article
Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice.
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- Nature Medicine, 2014, v. 20, n. 9, p. 992, doi. 10.1038/nm.3628
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- Article
Targeted Proteolysis of Plectin Isoform 1a Accounts for Hemidesmosome Dysfunction in Mice Mimicking the Dominant Skin Blistering Disease EBS-Ogna.
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- PLoS Genetics, 2011, v. 7, n. 12, p. 1, doi. 10.1371/journal.pgen.1002396
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- Article
Facioscapulohumeral Dystrophy: Incomplete Suppression of a Retrotransposed Gene.
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- PLoS Genetics, 2010, v. 6, n. 10, p. 1, doi. 10.1371/journal.pgen.1001181
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- Article
Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies.
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- BioMed Research International, 2016, v. 2016, p. 1, doi. 10.1155/2016/3128735
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- Article
Genetic Engineering of Dystroglycan in Animal Models of Muscular Dystrophy.
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- BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/635792
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- Article
Biochemical and Functional Comparisons of mdx and Sgcg<sup>−/−</sup> Muscular Dystrophy Mouse Models.
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- BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/131436
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- Article