Works matching DE "MUSCULAR dystrophy genetics"
Results: 118
Analysis of dystrophin gene in Iranian Duchenne and Becker muscular dystrophies patients and identification of a novel mutation.
- Published in:
- 2015
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- Publication type:
- journal 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
Prenatal muscle development in a mouse model for the secondary dystroglycanopathies.
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- Skeletal Muscle, 2016, p. 1, doi. 10.1186/s13395-016-0073-y
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- Publication type:
- Article
Distinct Effects of Contraction-Induced Injury In Vivo on Four Different Murine Models of Dysferlinopathy.
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- Journal of Biomedicine & Biotechnology, 2012, v. 2012, p. 1, doi. 10.1155/2012/134031
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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
- Publication type:
- Article
An intragenic deletion/inversion event in the DMD gene determines a novel exon creation and results in a BMD phenotype.
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- Human Genetics, 2004, v. 115, n. 1, p. 13, doi. 10.1007/s00439-004-1118-6
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- Publication type:
- Article
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
Oculopharyngeal muscular dystrophy in Hispanic New Mexicans.
- Published in:
- 2001
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- Publication type:
- journal article
Report of a Patient with Limb-Girdle Muscular Dystrophy, Ptosis and Ophthalmoparesis Caused by Plectinopathy.
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- Archives of Iranian Medicine (AIM), 2015, v. 18, n. 1, p. 60
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- Publication type:
- Article
Neuronal Migration Disorders.
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- Radiologic Technology, 2018, v. 89, n. 3, p. 279
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- Publication type:
- Article
Utility of Immunohistochemistry and Western Blot in Profiling Clinically Suspected Cases of Congenital Muscular Dystrophy.
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- Annals of Indian Academy of Neurology, 2021, v. 24, n. 2, p. 198, doi. 10.4103/aian.AIAN_18_20
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- Publication type:
- Article
A rare cause of autism spectrum disorder: Megaconial muscular dystrophy.
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- Annals of Indian Academy of Neurology, 2020, v. 23, n. 5, p. 694, doi. 10.4103/aian.AIAN_98_19
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- Publication type:
- Article
Detection of Dysferlin Gene Pathogenic Variants in the Indian Population in Patients Predicted to have a Dysferlinopathy Using a Blood-based Monocyte Assay and Clinical Algorithm: A Model for Accurate and Cost-effective Diagnosis.
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- Annals of Indian Academy of Neurology, 2017, v. 20, n. 3, p. 302, doi. 10.4103/aian.AIAN_129_17
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- Publication type:
- Article
Macroglossia associated with 271 bp deletion in exon 50 of dystrophin gene.
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- Annals of Indian Academy of Neurology, 2011, v. 14, n. 1, p. 47, doi. 10.4103/0972-2327.78051
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- Publication type:
- Article
Distrophinopathy: A rare cause of elevated transaminase in newborn.
- Published in:
- 2011
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- Publication type:
- Case Study
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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- Publication type:
- Article
Spontaneous resolution of retinal vascular abnormalities and macular oedema in facioscapulohumeral muscular dystrophy.
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- Clinical & Experimental Ophthalmology, 2016, v. 44, n. 7, p. 627, doi. 10.1111/ceo.12735
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- Publication type:
- Article
Macular lesion resembling adult-onset vitelliform macular dystrophy in Kearns-Sayre syndrome with multiple mtDNA deletions Ascaso et al. Maculopathy in Kearns-Sayre syndrome.
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- Clinical & Experimental Ophthalmology, 2010, v. 38, n. 8, p. 812, doi. 10.1111/j.1442-9071.2010.02335.x
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- Publication type:
- Article
CAPN3 mRNA processing alteration caused by splicing mutation associated with novel genomic rearrangement of Alu elements.
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- Journal of Human Genetics, 2012, v. 57, n. 2, p. 92, doi. 10.1038/jhg.2011.129
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- Publication type:
- Article
The genetic and molecular basis of muscular dystrophy: roles of cell–matrix linkage in the pathogenesis.
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- Journal of Human Genetics, 2006, v. 51, n. 11, p. 915, doi. 10.1007/s10038-006-0056-7
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- Publication type:
- Article
Clinical aspects of Emery-Dreifuss muscular dystrophy.
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- Nucleus (1949-1034), 2018, v. 9, n. 1, p. 314, doi. 10.1080/19491034.2018.1462635
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- Article
Clinical and Genetic Characterizations to Diagnose Sarcoglycanopathies.
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- Neurology Alert, 2021, v. 40, n. 6, p. 1
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- Article
Overexpression of dystrophin in transgenic mdx mice eliminates dystrophic symptoms without toxicity.
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- Nature, 1993, v. 364, n. 6439, p. 725, doi. 10.1038/364725a0
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- Publication type:
- Article
Cloning of the essential myotonic dystrophy region and mapping of the putative defect.
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- Nature, 1992, v. 355, n. 6360, p. 548, doi. 10.1038/355548a0
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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- Article
Exon-skipping events in candidates for clinical trials of morpholino.
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- Pediatrics International, 2011, v. 53, n. 4, p. 524, doi. 10.1111/j.1442-200X.2011.03330.x
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- Article
Generation of muscular dystrophy model rats with a CRISPR/Cas system.
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- Scientific Reports, 2014, p. 1, doi. 10.1038/srep05635
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- Article
A novel mutation in GNE gene: clinical characteristics and bioinformatics analysis.
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- Chinese Journal of Contemporary Neurology & Neurosurgery, 2018, v. 18, n. 8, p. 595, doi. 10.3969/j.issn.1672-6731.2018.08.007
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- Publication type:
- Article
Analysis on clinical phenotype and gene mutation of three cases of dysferlinopathy in two families.
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- Chinese Journal of Contemporary Neurology & Neurosurgery, 2018, v. 18, n. 7, p. 514
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- Publication type:
- Article
Analysis on clinical phenotype and gene mutation of two cases of limb - girdle muscular dystrophy type 2A during preclinical stage.
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- Chinese Journal of Contemporary Neurology & Neurosurgery, 2018, v. 18, n. 7, p. 506
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- Publication type:
- Article
Identification of β-Dystrobrevin as a Direct Target of miR-143: Involvement in Early Stages of Neural Differentiation.
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- PLoS ONE, 2016, v. 11, n. 5, p. 1, doi. 10.1371/journal.pone.0156325
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- Publication type:
- 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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- Publication type:
- Article
Merosin‑negative congenital muscular dystrophy: Report of five cases.
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- Journal of Pediatric Neurosciences, 2015, v. 10, n. 4, p. 346, doi. 10.4103/1817-1745.174432
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- Publication type:
- Article
Cardiac involvement in limb-girdle muscular dystrophy 2I.
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- Journal of Neurology, 2006, v. 253, n. 10, p. 1317, doi. 10.1007/s00415-006-0213-0
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- Publication type:
- Article
A novel insert mutation in γ-sarcoglycan gene leads to severe childhood autosomal recessive muscular dystrophy.
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- Journal of Neurology, 2002, v. 249, n. 11, p. 1608, doi. 10.1007/s00415-002-0873-3
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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- Article
Breakpoint junction features of seven DMD deletion mutations.
- Published in:
- Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0070-x
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- Publication type:
- Article
'Set the controls...' - phenotype matching beyond genetics in muscular dystrophy.
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- Experimental Physiology, 2014, v. 99, n. 4, p. 638, doi. 10.1113/expphysiol.2014.077933
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- Publication type:
- Article
Assignment<FOOTREF>[sup 1] </FOOTREF> of laminin alpha 2-chain gene (Lama2) to mouse chromosome 10A4–B1 by fluorescence in situ hybridization.
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- Cytogenetics & Cell Genetics, 1999, v. 87, n. 3/4, p. 195, doi. 10.1159/000015464
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- Publication type:
- Article
A large cohort study confirming that specific haplotype 4A161PAS is exclusively associated with the Chinese FSHD1.
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- Clinical Genetics, 2016, v. 90, n. 6, p. 558, doi. 10.1111/cge.12858
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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- Article
Dystrophin gene analysis in Duchenne/Becker dystrophy in a Malaysian population using multiplex polymerase chain reaction.
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- Neurology Asia, 2010, v. 15, n. 1, p. 19
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- Publication type:
- Article