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An intragenic deletion/inversion event in the DMD gene determines a novel exon creation and results in a BMD phenotype.
- Published in:
- Human Genetics, 2004, v. 115, n. 1, p. 13, doi. 10.1007/s00439-004-1118-6
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- Publication type:
- Article
Laing Early-onset Distal Myopathy Due to the MYH7 Mutation in an Iranian Family.
- Published in:
- Journal of Pediatrics Review, 2020, v. 8, n. 1, p. 35, doi. 10.32598/jpr.8.1.35
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- Publication type:
- Article
Generation of muscular dystrophy model rats with a CRISPR/Cas system.
- Published in:
- Scientific Reports, 2014, p. 1, doi. 10.1038/srep05635
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- Publication type:
- Article
Twenty-Year Clinical Progression of Dysferlinopathy in Patients from Dagestan.
- Published in:
- Frontiers in Neurology, 2017, v. 8, p. 1, doi. 10.3389/fneur.2017.00077
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- Publication type:
- Article
Natural disease history of the dy<sup>2J</sup> mouse model of laminin α2 (merosin)-deficient congenital muscular dystrophy.
- Published in:
- PLoS ONE, 2018, v. 13, n. 5, p. 1, doi. 10.1371/journal.pone.0197388
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- Publication type:
- Article
Genetic Counseling and Testing for FSHD (Facioscapulohumeral Muscular Dystrophy) in the Israeli Population.
- Published in:
- Journal of Genetic Counseling, 2012, v. 21, n. 4, p. 557, doi. 10.1007/s10897-011-9422-5
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- Publication type:
- Article
Muscular dystrophies: An Indian scenario.
- Published in:
- 2017
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- Publication type:
- journal article
Limb girdle muscular dystrophies in India.
- Published in:
- 2015
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- Publication type:
- Editorial
Surgical correction of spinal deformity in patients with congenital muscular dystrophy.
- Published in:
- Journal of Orthopaedic Science, 2010, v. 15, n. 4, p. 493, doi. 10.1007/s00776-010-1486-9
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- Publication type:
- Article
Calpains, skeletal muscle function and exercise.
- Published in:
- Clinical & Experimental Pharmacology & Physiology, 2010, v. 37, n. 3, p. 385, doi. 10.1111/j.1440-1681.2009.05310.x
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- Publication type:
- Article
CAPN3 mRNA processing alteration caused by splicing mutation associated with novel genomic rearrangement of Alu elements.
- Published in:
- 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.
- Published in:
- 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
Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C).
- Published in:
- Case Reports in Genetics, 2016, p. 1, doi. 10.1155/2016/9280812
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- Publication type:
- Article
Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine.
- Published in:
- 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.
- Published in:
- 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
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy.
- Published in:
- Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0224-0
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- Publication type:
- Article
Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O.
- Published in:
- 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
Clinical variability in calpainopathy: What makes the difference?
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 12, p. 825, doi. 10.1038/sj.ejhg.5200888
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- Publication type:
- Article
Severe limb girdle muscular dystrophy in Spanish gypsies: further evidence for a founder mutation in the γ-sarcoglycan gene.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 4, p. 396, doi. 10.1038/sj.ejhg.5200197
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- Publication type:
- Article
Mutation in the Ercc2 gene of the mouse causes cataracts.
- Published in:
- 2015
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- Publication type:
- Abstract
Dystrophin gene analysis in Duchenne/Becker dystrophy in a Malaysian population using multiplex polymerase chain reaction.
- Published in:
- Neurology Asia, 2010, v. 15, n. 1, p. 19
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- Publication type:
- Article
Muscular Dystrophy-Associated SUN1 and SUN2 Variants Disrupt Nuclear-Cytoskeletal Connections and Myonuclear Organization.
- Published in:
- PLoS Genetics, 2014, v. 10, n. 9, p. 1, doi. 10.1371/journal.pgen.1004605
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- Publication type:
- Article
Targeted Proteolysis of Plectin Isoform 1a Accounts for Hemidesmosome Dysfunction in Mice Mimicking the Dominant Skin Blistering Disease EBS-Ogna.
- Published in:
- PLoS Genetics, 2011, v. 7, n. 12, p. 1, doi. 10.1371/journal.pgen.1002396
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- Publication type:
- Article
Facioscapulohumeral Dystrophy: Incomplete Suppression of a Retrotransposed Gene.
- Published in:
- PLoS Genetics, 2010, v. 6, n. 10, p. 1, doi. 10.1371/journal.pgen.1001181
- Publication type:
- Article
Preimplantation Diagnosis of Non-Deletion Duchenne Muscular Dystrophy (DMD) by Linkage PCR Analysis.
- Published in:
- Journal of Assisted Reproduction & Genetics, 1997, v. 14, n. 8, p. 450
- Publication type:
- Article
Safety and Feasibility of High-pressure Transvenous Limb Perfusion With 0.9% Saline in Human Muscular Dystrophy.
- Published in:
- Molecular Therapy, 2012, v. 20, n. 2, p. 456, doi. 10.1038/mt.2011.137
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- Publication type:
- Article
Extreme Maternal Metabolic Acidosis Leading to Fetal Distress and Emergency Caesarean Section.
- Published in:
- Case Reports in Obstetrics & Gynecology, 2013, p. 1, doi. 10.1155/2013/847942
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- Publication type:
- Article
A Novel Frameshift Mutation in Two Siblings with Merosin-deficient Congenital Muscular Dystrophy.
- Published in:
- Medical Bulletin of Haseki / Haseki Tip Bulteni, 2020, v. 58, n. 2, p. 208, doi. 10.4274/haseki.galenos.2019.5177
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- Publication type:
- Article
A large cohort study confirming that specific haplotype 4A161PAS is exclusively associated with the Chinese FSHD1.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 6, p. 558, doi. 10.1111/cge.12858
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- Publication type:
- Article
Characterization of WWP1 protein expression in skeletal muscle of muscular dystrophy chickens.
- Published in:
- Journal of Biochemistry, 2016, v. 159, n. 2, p. 171, doi. 10.1093/jb/mvv084
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- Publication type:
- Article
Merosin‑negative congenital muscular dystrophy: Report of five cases.
- Published in:
- Journal of Pediatric Neurosciences, 2015, v. 10, n. 4, p. 346, doi. 10.4103/1817-1745.174432
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- Publication type:
- Article
Genotypic and Phenotypic Heterogeneity of LGMD1D due to DNAJB6 Mutations.
- Published in:
- 2018
- By:
- Publication type:
- Letter to the Editor
The Author Reply: Genotypic and Phenotypic Heterogeneity of LGMD1D due to DNAJB6 Mutations.
- Published in:
- 2018
- By:
- Publication type:
- Letter to the Editor
Anaesthesia management of a patient with Bethlem Myopathy for elective tonsillectomy: a case report.
- Published in:
- BMC Anesthesiology, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12871-024-02539-0
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- Publication type:
- Article
Magnetic resonance imaging patterns of muscle involvement in genetic muscle diseases: a systematic review.
- Published in:
- Journal of Neurology, 2017, v. 264, n. 7, p. 1320, doi. 10.1007/s00415-016-8350-6
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- Publication type:
- Article
Whole genome sequencing reveals a 7 base-pair deletion in DMD exon 42 in a dog with muscular dystrophy.
- Published in:
- Mammalian Genome, 2017, v. 28, n. 3/4, p. 106, doi. 10.1007/s00335-016-9675-2
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- Publication type:
- Article
A homozygous mutation in the POMT2 gene in four siblings with limb-girdle muscular dystrophy 2N.
- Published in:
- Turkish Archives of Pediatrics, 2021, v. 56, n. 1, p. 68, doi. 10.14744/TurkPediatriArs.2020.37880
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- Publication type:
- Article
Genetics and Epigenetics of Progressive Fascioscapulohumeral (Landouzy–Dejerine) Muscular Dystrophy.
- Published in:
- Russian Journal of Genetics, 2003, v. 39, n. 2, p. 147, doi. 10.1023/A:1022471523757
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- Publication type:
- Article
A qualitative study on the impact of caring for an ambulatory individual with nonsense mutation Duchenne muscular dystrophy.
- Published in:
- Journal of Patient-Reported Outcomes, 2021, v. 5, n. 1, p. 1, doi. 10.1186/s41687-021-00344-8
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- Publication type:
- Article
Analysis of dystrophin gene in Iranian Duchenne and Becker muscular dystrophies patients and identification of a novel mutation.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Aspecte clinico - genetice în distrofinopatii.
- Published in:
- Journal for Neurology & Psychiatry of Child & Adolescent in Romania, 2015, v. 18, n. 4, p. 5
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- Publication type:
- Article
Oculopharyngeal muscular dystrophy in Hispanic New Mexicans.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Gene Expression Profiling Identifies Molecular Pathways Associated with Collagen VI Deficiency and Provides Novel Therapeutic Targets.
- Published in:
- PLoS ONE, 2013, v. 8, n. 10, p. 1, doi. 10.1371/journal.pone.0077430
- By:
- Publication type:
- Article
Next-Generation Sequencing Identifies Transportin 3 as the Causative Gene for LGMD1F
- Published in:
- PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0063536
- By:
- Publication type:
- Article
Increased Apoptosis of Myoblasts in Drosophila Model for the Walker-Warburg Syndrome.
- Published in:
- PLoS ONE, 2010, v. 5, n. 7, p. 1, doi. 10.1371/journal.pone.0011557
- By:
- Publication type:
- Article
Role of Mental Retardation-Associated Dystrophin-Gene Product Dp71 in Excitatory Synapse Organization, Synaptic Plasticity and Behavioral Functions.
- Published in:
- PLoS ONE, 2009, v. 4, n. 8, p. 1, doi. 10.1371/journal.pone.0006574
- By:
- Publication type:
- Article
Report of a Patient with Limb-Girdle Muscular Dystrophy, Ptosis and Ophthalmoparesis Caused by Plectinopathy.
- Published in:
- Archives of Iranian Medicine (AIM), 2015, v. 18, n. 1, p. 60
- By:
- Publication type:
- Article
Muscular dystrophy in Cavalier King Charles spaniels.
- Published in:
- 2009
- By:
- Publication type:
- Letter
Uticaj životnog doba na rasprostranjenost i simptomatologiju kraniomandibularnih disfunkcija.
- Published in:
- Serbian Dental Journal / Stomatološki Glasnik Srbije, 2010, v. 57, n. 3, p. 152
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- Publication type:
- Article
Gene expression profiling in facioscapulohumeral muscular dystrophy.
- Published in:
- 1999
- By:
- Publication type:
- Abstract