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System-level analysis of genes mutated in muscular dystrophies reveals a functional pattern associated with muscle weakness distribution.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-60761-9
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- Article
Indoxyl sulfate inhibits muscle cell differentiation via Myf6/MRF4 and MYH2 downregulation.
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- Nephrology Dialysis Transplantation, 2024, v. 39, n. 1, p. 103, doi. 10.1093/ndt/gfad123
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- Article
A Dysferlin Exon 32 Nonsense Mutant Mouse Model Shows Pathological Signs of Dysferlinopathy.
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- Biomedicines, 2023, v. 11, n. 5, p. 1438, doi. 10.3390/biomedicines11051438
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- Article
Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot-Marie-Tooth disease 4H.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 5, p. 1844, doi. 10.1093/brain/awac402
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- Article
Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 15, p. 8506, doi. 10.3390/ijms23158506
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- Article
Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49.
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- Genes, 2022, v. 13, n. 7, p. 1277, doi. 10.3390/genes13071277
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- Article
Mechanisms of myostatin and activin A accumulation in chronic kidney disease.
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- Nephrology Dialysis Transplantation, 2022, v. 37, n. 7, p. 1249, doi. 10.1093/ndt/gfac136
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- Article
Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population.
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- Genes, 2022, v. 13, n. 6, p. 1076, doi. 10.3390/genes13061076
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- Article
First characterization of congenital myasthenic syndrome type 5 in North Africa.
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- Molecular Biology Reports, 2021, v. 48, n. 10, p. 6999, doi. 10.1007/s11033-021-06530-7
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- Article
A novel bi‐allelic loss‐of‐function mutation in STIM1 expands the phenotype of STIM1‐related diseases.
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- Clinical Genetics, 2021, v. 100, n. 1, p. 84, doi. 10.1111/cge.13959
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- Article
Commentary: Long-Term Exercise Reduces Formation of Tubular Aggregates and Promotes Maintenance of Ca<sup>2+</sup> Entry Units in Aged Muscle.
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- Frontiers in Physiology, 2021, v. 11, p. N.PAG, doi. 10.3389/fphys.2021.663677
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- Article
Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy.
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- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 12, p. 2538, doi. 10.1002/acn3.51193
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- Article
Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay.
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- Human Mutation, 2020, v. 41, n. 10, p. 1797, doi. 10.1002/humu.24083
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- Article
Extension of the phenotypic spectrum of GLE1‐related disorders to a mild congenital form resembling congenital myopathy.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 8, p. 1, doi. 10.1002/mgg3.1277
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- Publication type:
- Article
A new tool CovReport generates easy-to-understand sequencing coverage summary for diagnostic reports.
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- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-63079-4
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- Article
Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1.
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- Human Molecular Genetics, 2019, v. 28, n. 14, p. 2378, doi. 10.1093/hmg/ddz060
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- Article
Tumor protein 53‐induced nuclear protein 1 deficiency alters mouse gastrocnemius muscle function and bioenergetics in vivo.
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- Physiological Reports, 2019, v. 7, n. 10, p. N.PAG, doi. 10.14814/phy2.14055
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- Article
Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation.
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- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 4, p. 642, doi. 10.1002/acn3.738
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- Article
VarAFT: a variant annotation and filtration system for human next generation sequencing data.
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- Nucleic Acids Research, 2018, v. 46, n. W1, p. W545, doi. 10.1093/nar/gky471
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- Article
Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing.
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- 2017
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- Publication type:
- journal article
Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy.
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- Human Mutation, 2017, v. 38, n. 10, p. 1432, doi. 10.1002/humu.23304
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- Publication type:
- Article
Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo- Humeral Dystrophy: a case report.
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- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0328-9
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- Publication type:
- Article
Coverage analysis of lists of genes involved in heterogeneous genetic diseases following benchtop exome sequencing using the ion proton.
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- Journal of Genetics, 2016, v. 95, n. 1, p. 203, doi. 10.1007/s12041-016-0619-0
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- Article
Truncated prelamin A expression in HGPS-like patients: a transcriptional study.
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- European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1051, doi. 10.1038/ejhg.2014.239
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- Publication type:
- Article
Comment on: A novel dysferlin-mutant pseudoexon bypassed with antisense oligonucleotides.
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- Annals of Clinical & Translational Neurology, 2015, v. 2, n. 7, p. 783, doi. 10.1002/acn3.216
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- Publication type:
- Article
Identification of Variants in the 4q35 Gene FAT1 in Patients with a Facioscapulohumeral Dystrophy-Like Phenotype.
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- Human Mutation, 2015, v. 36, n. 4, p. 443, doi. 10.1002/humu.22760
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- Publication type:
- Article
Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study.
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- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-014-0218-1
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- Publication type:
- Article
Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study.
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- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 22, doi. 10.1186/s13023-014-0218-1
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- Publication type:
- Article
Identification of Splicing Defects Caused by Mutations in the Dysferlin Gene.
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- Human Mutation, 2014, v. 35, n. 12, p. 1532, doi. 10.1002/humu.22710
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- Article
Exome sequencing as a second-tier diagnostic approach for clinically suspected dysferlinopathy patients.
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- Muscle & Nerve, 2014, v. 50, n. 6, p. 1007, doi. 10.1002/mus.24344
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- Publication type:
- Article
ENTIRE CAPN3 GENE DELETION IN A PATIENT WITH LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2A.
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- Muscle & Nerve, 2014, v. 50, p. 448, doi. 10.1002/mus.24263
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- Publication type:
- Article
Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A.
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- Muscle & Nerve, 2014, v. 50, n. 3, p. 448, doi. 10.1002/mus.24263
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- Publication type:
- Article
Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy.
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- Human Molecular Genetics, 2013, v. 22, n. 20, p. 4206, doi. 10.1093/hmg/ddt272
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- Article
Deregulation of the Protocadherin Gene <i>FAT1</i> Alters Muscle Shapes: Implications for the Pathogenesis of Facioscapulohumeral Dystrophy.
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- PLoS Genetics, 2013, v. 9, n. 6, p. 1, doi. 10.1371/journal.pgen.1003550
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- Article
A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome.
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- Skeletal Muscle, 2013, v. 3, n. 1, p. 1, doi. 10.1186/2044-5040-3-3
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- Article
Further heterogeneity in myopathy with tubular aggregates?
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- Muscle & Nerve, 2012, v. 46, n. 6, p. 983, doi. 10.1002/mus.23509
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- Article
Lack of Correlation between Outcomes of Membrane Repair Assay and Correction of Dystrophic Changes in Experimental Therapeutic Strategy in Dysferlinopathy.
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- PLoS ONE, 2012, v. 7, n. 5, p. 1, doi. 10.1371/journal.pone.0038036
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- Publication type:
- Article
UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene.
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- Human Mutation, 2012, v. 33, n. 3, p. E2317, doi. 10.1002/humu.22015
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- Publication type:
- Article
Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications.
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- Human Mutation, 2012, v. 33, n. 2, p. 429, doi. 10.1002/humu.21659
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- Publication type:
- Article
Translational Research and Therapeutic Perspectives in Dysferlinopathies.
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- Molecular Medicine, 2011, v. 17, n. 9/10, p. 875, doi. 10.2119/molmed.2011.00084
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- Publication type:
- Article
A new pathway encompassing calpain 3 and its newly identified substrate cardiac ankyrin repeat protein is involved in the regulation of the nuclear factor-κB pathway in skeletal muscle.
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- FEBS Journal, 2010, v. 277, n. 20, p. 4322, doi. 10.1111/j.1742-4658.2010.07820.x
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- Publication type:
- Article
A Naturally Occurring Human Minidysferlin Protein Repairs Sarcolemmal Lesions in a Mouse Model of Dysferlinopathy.
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- Science Translational Medicine, 2010, v. 2, n. 50, p. 1, doi. 10.1126/scitranslmed.3000951
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- Article
Therapeutic exon ‘switching’ for dysferlinopathies?
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- 2010
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- Publication type:
- Letter
Efficient recovery of dysferlin deficiency by dual adeno-associated vector-mediated gene transfer.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 10, p. 1897, doi. 10.1093/hmg/ddq065
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- Publication type:
- Article
Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping.
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- Human Mutation, 2010, v. 31, n. 2, p. 136, doi. 10.1002/humu.21160
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- Publication type:
- Article
Cardiac ankyrin repeat protein is a marker of skeletal muscle pathological remodelling.
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- FEBS Journal, 2009, v. 276, n. 3, p. 669, doi. 10.1111/j.1742-4658.2008.06814.x
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- Publication type:
- Article
NF-κB-dependent expression of the antiapoptotic factor c-FLIP is regulated by calpain 3, the protein involved in limb-girdle muscular dystrophy type 2A.
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- FASEB Journal, 2008, v. 22, n. 5, p. 1521, doi. 10.1096/fj.07-8701com
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- Publication type:
- Article
Mannosidase I inhibition rescues the human α-sarcoglycan R77C recurrent mutation.
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- Human Molecular Genetics, 2008, v. 17, n. 9, p. 1214, doi. 10.1093/hmg/ddn029
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- Publication type:
- Article
Phenotypic Correction of α-Sarcoglycan Deficiency by Intra-arterial Injection of a Muscle-specific Serotype 1 rAAV Vector.
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- Molecular Therapy, 2007, v. 15, n. 1, p. 53, doi. 10.1038/sj.mt.6300022
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- Publication type:
- Article
Calpain 3: a key regulator of the sarcomere?
- Published in:
- FEBS Journal, 2006, v. 273, n. 15, p. 3427, doi. 10.1111/j.1742-4658.2006.05351.x
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- Publication type:
- Article