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Progression of myocardial fibrosis by magnetic resonance imaging in patients with Duchenne and Becker muscular dystrophy.
- Published in:
- 2013
- By:
- Publication type:
- Abstract
Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients.
- Published in:
- Acta Myologica, 2020, v. 39, n. 4, p. 274, doi. 10.36185/2532-1900-030
- By:
- Publication type:
- Article
Satellite cells deficiency and defective regeneration in dynamin 2-related centronuclear myopathy.
- Published in:
- FASEB Journal, 2021, v. 35, n. 4, p. 1, doi. 10.1096/fj.202001313RRR
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- Publication type:
- Article
Estimate of the Intrafamilial Correlation for Serum Creatine Kinase and Pyruvate Kinase in Females at Risk for Duchenne and Becker Muscular Dystrophies.
- Published in:
- Human Heredity, 1991, v. 41, n. 6, p. 370, doi. 10.1159/000154029
- By:
- Publication type:
- Article
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G).
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 15, p. 4103, doi. 10.1093/hmg/ddu127
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- Publication type:
- Article
Muscle Satellite Cells: Exploring the Basic Biology to Rule Them.
- Published in:
- Stem Cells International, 2016, p. 1, doi. 10.1155/2016/1078686
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- Publication type:
- Article
Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 19, p. 11995, doi. 10.3390/ijms231911995
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- Publication type:
- Article
Renewed avenues through exercise muscle contractility and inflammatory status.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Renewed Avenues through Exercise Muscle Contractility and Inflammatory Status.
- Published in:
- Scientific World Journal, 2012, p. 1, doi. 10.1100/2012/584205
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- Publication type:
- Article
Neurocognitive Impairment in mdx Mice.
- Published in:
- Molecular Neurobiology, 2019, v. 56, n. 11, p. 7608, doi. 10.1007/s12035-019-1573-7
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- Publication type:
- Article
Behavioral Responses in Animal Model of Congenital Muscular Dystrophy 1D.
- Published in:
- Molecular Neurobiology, 2016, v. 53, n. 1, p. 402, doi. 10.1007/s12035-014-9024-y
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- Publication type:
- Article
Central Nervous System Involvement in the Animal Model of Myodystrophy.
- Published in:
- Molecular Neurobiology, 2013, v. 48, n. 1, p. 71, doi. 10.1007/s12035-013-8415-9
- By:
- Publication type:
- Article
Tetraspanin CD82 Associates with Trafficking Vesicle in Muscle Cells and Binds to Dysferlin and Myoferlin.
- Published in:
- Advanced Biology, 2023, v. 7, n. 12, p. 1, doi. 10.1002/adbi.202300157
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- Publication type:
- Article
Rhabdomyosarcoma Associated with Core Myopathy/Malignant Hyperthermia: Combined Effect of Germline Variants in RYR1 and ASPSCR1 May Play a Role.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Central Core Disease: Facial Weakness Differentiating Biallelic from Monoallelic Forms.
- Published in:
- Genes, 2022, v. 13, n. 5, p. 760, doi. 10.3390/genes13050760
- By:
- Publication type:
- Article
A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21.
- Published in:
- 2005
- By:
- Publication type:
- Correction notice
A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 12, p. 1033, doi. 10.1038/sj.ejhg.5201289
- By:
- Publication type:
- Article
Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 12, p. 923, doi. 10.1038/sj.ejhg.5201066
- By:
- 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
- By:
- Publication type:
- Article
Human multipotent adipose-derived stem cells restore dystrophin expression of Duchenne skeletal-muscle cells in vitro.
- Published in:
- Biology of the Cell (Wiley-Blackwell), 2008, v. 100, n. 4, p. 231, doi. 10.1042/BC20070102
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- Publication type:
- Article
Muscle ultrastructure and histopathological findings in a Brazilian single-centre series of genetically classified telethoninopathy patients.
- Published in:
- Surgical & Experimental Pathology, 2024, v. 7, n. 1, p. 1, doi. 10.1186/s42047-024-00155-3
- By:
- Publication type:
- Article
Spinal cord injury-related thermoregulatory impairment masks a fatal malignant hyperthermia crisis: a case report.
- Published in:
- Canadian Journal of Anaesthesia / Journal Canadien d'Anesthésie, 2022, v. 69, n. 3, p. 369, doi. 10.1007/s12630-021-02170-4
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- Publication type:
- Article
HyperCKémie idiopathique et susceptibilité à l’hyperthermie maligne.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Correction to: Effects of low-intensity training on the brain and muscle in the congenital muscular dystrophy 1D model.
- Published in:
- Neurological Sciences, 2022, v. 43, n. 11, p. 6613, doi. 10.1007/s10072-022-05999-9
- By:
- Publication type:
- Article
Effects of low-intensity training on the brain and muscle in the congenital muscular dystrophy 1D model.
- Published in:
- Neurological Sciences, 2022, v. 43, n. 7, p. 4493, doi. 10.1007/s10072-022-05928-w
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- Publication type:
- Article
Muscle satellite cells and impaired late stage regeneration in different murine models for muscular dystrophies.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-48156-7
- By:
- Publication type:
- Article
Faster regeneration associated to high expression of Fam65b and Hdac6 in dysferlin-deficient mouse.
- Published in:
- Journal of Molecular Histology, 2019, v. 50, n. 4, p. 375, doi. 10.1007/s10735-019-09834-y
- By:
- Publication type:
- Article
SJL Dystrophic Mice Express a Significant Amount of Human Muscle Proteins Following Systemic Delivery of Human Adipose-Derived Stromal Cells Without Immunosuppression.
- Published in:
- Stem Cells, 2008, v. 26, n. 9, p. 2391, doi. 10.1634/stemcells.2008-0043
- By:
- Publication type:
- Article
Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin.
- Published in:
- Nature Genetics, 2000, v. 24, n. 2, p. 163, doi. 10.1038/72822
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- Publication type:
- Article
Clinical and Molecular Characterization of Mcardle's Disease in Brazilian Patients.
- Published in:
- NeuroMolecular Medicine, 2013, v. 15, n. 3, p. 470, doi. 10.1007/s12017-013-8233-2
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- Publication type:
- Article
Assessing Pathogenicity for Novel Mutation/Sequence Variants: The Value of Healthy Older Individuals.
- Published in:
- NeuroMolecular Medicine, 2012, v. 14, n. 4, p. 281, doi. 10.1007/s12017-012-8186-x
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- Publication type:
- Article
Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case report.
- Published in:
- BMC Research Notes, 2014, v. 7, p. 1, doi. 10.1186/1756-0500-7-487
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- Publication type:
- Article
Preclinical Studies with Umbilical Cord Mesenchymal Stromal Cells in Different Animal Models for Muscular Dystrophy.
- Published in:
- Journal of Biomedicine & Biotechnology, 2011, p. 1, doi. 10.1155/2011/715251
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- Publication type:
- Article
Novel point mutations in the dystrophin gene.
- Published in:
- Human Mutation, 1997, v. 10, n. 3, p. 217, doi. 10.1002/(SICI)1098-1004(1997)10:3<217::AID-HUMU7>3.0.CO;2-F
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- Publication type:
- Article
Induced degeneration and regeneration in aged muscle reduce tubular aggregates but not muscle function.
- Published in:
- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1325222
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- Publication type:
- Article
K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 2, p. 494, doi. 10.1093/brain/aws348
- By:
- Publication type:
- Article
Muscle regeneration in spastic muscles of children with cerebral palsy.
- Published in:
- Developmental Medicine & Child Neurology, 2021, v. 63, n. 10, p. 1137, doi. 10.1111/dmcn.14953
- By:
- Publication type:
- Article
Motor Chip: A Comparative Genomic Hybridization Microarray for Copy-Number Mutations in 245 Neuromuscular Disorders.
- Published in:
- Clinical Chemistry, 2011, v. 57, n. 11, p. 1584, doi. 10.1373/clinchem.2011.168898
- By:
- Publication type:
- Article
Association of Three Different Mutations in the CLCN1 Gene Modulating the Phenotype in a Consanguineous Family with Myotonia Congenita.
- Published in:
- Journal of Molecular Neuroscience, 2021, v. 71, n. 11, p. 2275, doi. 10.1007/s12031-020-01785-4
- By:
- Publication type:
- Article
LMNA-Related Muscular Dystrophy with Clinical Intrafamilial Variability.
- Published in:
- Journal of Molecular Neuroscience, 2019, v. 69, n. 4, p. 623, doi. 10.1007/s12031-019-01390-0
- By:
- Publication type:
- Article
Muscle Phenotypic Variability in Limb Girdle Muscular Dystrophy 2 G.
- Published in:
- Journal of Molecular Neuroscience, 2013, v. 50, n. 2, p. 339, doi. 10.1007/s12031-013-9987-6
- By:
- Publication type:
- Article
Animal Models for Genetic Neuromuscular Diseases.
- Published in:
- Journal of Molecular Neuroscience, 2008, v. 34, n. 3, p. 241, doi. 10.1007/s12031-007-9023-9
- By:
- Publication type:
- Article
Calpainopathy.
- Published in:
- Journal of Molecular Neuroscience, 2003, v. 21, n. 3, p. 233, doi. 10.1385/JMN:21:3:233
- By:
- Publication type:
- Article
Screening for mutations in the RYR1 gene in families with malignant hyperthermia.
- Published in:
- Journal of Molecular Neuroscience, 2003, v. 21, n. 1, p. 35, doi. 10.1385/JMN:21:1:35
- By:
- Publication type:
- Article
Deficiency of muscle α-actinin-3 is compatible with high muscle performance.
- Published in:
- Journal of Molecular Neuroscience, 2003, v. 20, n. 1, p. 39, doi. 10.1385/JMN:20:1:39
- By:
- Publication type:
- Article
Dysferlin protein analysis in limb-girdle muscular dystrophies.
- Published in:
- Journal of Molecular Neuroscience, 2001, v. 17, n. 1, p. 71, doi. 10.1385/JMN:17:1:71
- By:
- Publication type:
- Article
A new evidence for the maintenance of the sarcoglycan complex in muscle sarcolemma in spite of the primary absence of δ-SG protein.
- Published in:
- Journal of Molecular Medicine, 2007, v. 85, n. 4, p. 415, doi. 10.1007/s00109-007-0163-8
- By:
- 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
- By:
- Publication type:
- Article
Central core myopathy with autophagy.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Activity of Krebs cycle enzymes in mdx mice.
- Published in:
- 2016
- By:
- Publication type:
- journal article