Found: 29
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A novel insertional mutation of a single base in exon 12 of the dystrophin gene.
- Published in:
- Clinical Genetics, 1995, v. 48, n. 3, p. 128, doi. 10.1111/j.1399-0004.1995.tb04071.x
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- Publication type:
- Article
Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy.
- Published in:
- 2012
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- Publication type:
- journal article
Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 82, doi. 10.1186/1750-1172-7-82
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- Publication type:
- Article
Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome.
- Published in:
- 2016
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- Publication type:
- journal article
CHRNG‐related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 915, doi. 10.1002/ajmg.a.61122
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- Publication type:
- Article
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.
- Published in:
- Skeletal Muscle, 2018, v. 8, n. 1, p. N.PAG, doi. 10.1186/s13395-018-0170-1
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- Publication type:
- Article
Transcriptome Analysis of Ullrich Congenital Muscular Dystrophy Fibroblasts Reveals a Disease Extracellular Matrix Signature and Key Molecular Regulators.
- Published in:
- PLoS ONE, 2015, v. 10, n. 12, p. 1, doi. 10.1371/journal.pone.0145107
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- Article
Correction: Gene Expression Profiling Identifies Molecular Pathways Associated with Collagen VI Deficiency and Provides Novel Therapeutic Targets.
- Published in:
- PLoS ONE, 2015, v. 10, n. 5, p. 1, doi. 10.1371/journal.pone.0128614
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- Publication type:
- 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
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- Publication type:
- Article
Interplay between <i>DMD</i> Point Mutations and Splicing Signals in Dystrophinopathy Phenotypes.
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- PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0059916
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- Publication type:
- Article
PGC-1α Induces Mitochondrial and Myokine Transcriptional Programs and Lipid Droplet and Glycogen Accumulation in Cultured Human Skeletal Muscle Cells.
- Published in:
- PLoS ONE, 2012, v. 7, n. 1, p. 1, doi. 10.1371/journal.pone.0029985
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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
Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-50415-6
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- Publication type:
- Article
Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.
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- Brain: A Journal of Neurology, 2008, v. 131, n. 3, p. 747, doi. 10.1093/brain/awm325
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- Publication type:
- Article
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.
- Published in:
- Brain: A Journal of Neurology, 2007, v. 130, n. 6, p. 1497, doi. 10.1093/brain/awm068
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- Publication type:
- Article
Epilepsy in LAMA2‐related muscular dystrophy: An electro‐clinico‐radiological characterization.
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- Epilepsia (Series 4), 2020, v. 61, n. 5, p. 971, doi. 10.1111/epi.16493
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- Publication type:
- Article
Glycogen branching enzyme deficiency in an infant with severe congenital hypotonia: an emerging diagnosis of muscle weakness in the perinatal period.
- Published in:
- 2009
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- Publication type:
- Letter
De novo LMNA mutations cause a new form of congenital muscular dystrophy.
- Published in:
- Annals of Neurology, 2008, v. 64, n. 2, p. 177, doi. 10.1002/ana.21417
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- Article
Hereditary motor and sensory neuropathy-russe: new autosomal recessive neuropathy in Balkan Gypsies.
- Published in:
- 2001
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- Publication type:
- journal article
Hypotonic male infant and MCT8 deficiency - a diagnosis to think about.
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- BMC Pediatrics, 2014, v. 14, n. 1, p. 1, doi. 10.1186/1471-2431-14-252
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- Publication type:
- Article
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.
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- Journal of Neurology, 2012, v. 259, n. 5, p. 838, doi. 10.1007/s00415-011-6262-z
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- Publication type:
- Article
A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome.
- Published in:
- Journal of Neurology, 2012, v. 259, n. 3, p. 474, doi. 10.1007/s00415-011-6204-9
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- Publication type:
- Article
Publisher Correction: Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein.
- Published in:
- 2020
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- Publication type:
- Correction Notice
Publisher Correction: Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein.
- Published in:
- 2020
- By:
- Publication type:
- Correction Notice
GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction.
- Published in:
- PLoS ONE, 2016, v. 11, n. 2, p. 1, doi. 10.1371/journal.pone.0148709
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- Publication type:
- Article
Molecular identification of an enterovirus 99 strain in Spain.
- Published in:
- 2012
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- Publication type:
- Report
Comparative gene expression profiling betweenhuman cultured myotubes and skeletalmuscle tissue.
- Published in:
- BMC Genomics, 2010, v. 11, p. 125, doi. 10.1186/1471-2164-11-125
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- Publication type:
- Article
Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease (Communicated by Christine van Broeckhoven).
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 129, doi. 10.1002/humu.10240
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- Article
Mutation screening of the N?myc downstream?regulated gene 1 (NDRG1) in patients with Charcot?Marie?Tooth DiseaseCommunicated by Christine van Broeckhoven.
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 129, doi. 10.1002/humu.10240
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- Publication type:
- Article