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Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 3, p. 647, doi. 10.3233/JND-230216
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- Publication type:
- Article
Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report.
- Published in:
- Journal of Neuromuscular Diseases, 2022, v. 9, n. 1, p. 73, doi. 10.3233/JND-210712
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- Publication type:
- Article
Four sisters compound heterozygotes for the pre- and full mutation in fragile X syndrome and a complete inactivation of X-functional chromosome: implications for genetic counseling.
- Published in:
- Journal of Human Genetics, 2011, v. 56, n. 1, p. 87, doi. 10.1038/jhg.2010.140
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- Publication type:
- Article
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.
- Published in:
- 2020
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- Publication type:
- journal article
Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy.
- Published in:
- 2019
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- Publication type:
- journal article
CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 8, p. 4410, doi. 10.3390/ijms23084410
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- Publication type:
- Article
CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 10, p. 5180, doi. 10.3390/ijms22105180
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- Publication type:
- Article
The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 8, p. 4274, doi. 10.3390/ijms22084274
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- Publication type:
- Article
Congenital LMNA-Related Muscular Dystrophy in Paediatrics: Cardiac Management in Monozygotic Twins.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 11, p. 5836, doi. 10.3390/ijms25115836
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- Publication type:
- Article
Hypotonic male infant and MCT8 deficiency - a diagnosis to think about.
- Published in:
- BMC Pediatrics, 2014, v. 14, n. 1, p. 1, doi. 10.1186/1471-2431-14-252
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- Publication type:
- Article
Correction to: Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015–2022): 2022 interim analysis.
- Published in:
- 2023
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- Publication type:
- Correction Notice
Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015–2022): 2022 interim analysis.
- Published in:
- Journal of Neurology, 2023, v. 270, n. 8, p. 3896, doi. 10.1007/s00415-023-11687-1
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- Publication type:
- Article
Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants.
- Published in:
- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 3, p. 408, doi. 10.1002/acn3.51731
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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
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.
- Published in:
- 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
Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases.
- Published in:
- Frontiers in Neuroscience, 2022, v. 16, p. 1, doi. 10.3389/fnins.2022.784880
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- Publication type:
- Article
A capillary electrophoresis procedure for the screening of oligosaccharidoses and related diseases.
- Published in:
- Analytical & Bioanalytical Chemistry, 2014, v. 406, n. 18, p. 4337, doi. 10.1007/s00216-014-7832-6
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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
Clinical presentation and proteomic signature of patients with TANGO2 mutations.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 297, doi. 10.1002/jimd.12156
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- Publication type:
- Article
Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1147, doi. 10.1007/s10545-018-0224-x
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- Publication type:
- Article
Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1147, doi. 10.1007/s10545-018-0224-x
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- Publication type:
- Article
International retrospective natural history study of LMNA-related congenital muscular dystrophy.
- Published in:
- Brain Communications, 2021, v. 3, n. 3, p. 1, doi. 10.1093/braincomms/fcab075
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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
- By:
- 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
SDS22 coordinates the assembly of holoenzymes from nascent protein phosphatase-1.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-49746-4
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- Publication type:
- Article
Circulating Cell-Free Mitochondrial DNA in Cerebrospinal Fluid as a Biomarker for Mitochondrial Diseases.
- Published in:
- Clinical Chemistry, 2021, v. 67, n. 8, p. 1113, doi. 10.1093/clinchem/hvab091
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- Publication type:
- Article
An Integrative Analysis of DNA Methylation Pattern in Myotonic Dystrophy Type 1 Samples Reveals a Distinct DNA Methylation Profile between Tissues and a Novel Muscle-Associated Epigenetic Dysregulation.
- Published in:
- Biomedicines, 2022, v. 10, n. 6, p. 1372, doi. 10.3390/biomedicines10061372
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- Publication type:
- Article
TERAPIA GENICA: ¿DÓNDE ESTAMOS?, ¿A DÓNDE VAMOS?
- Published in:
- Medicina (Buenos Aires), 2023, v. 83, p. 13
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- Publication type:
- Article
SÍNDROME DE GUILLAIN-BARRÉ Y OTRAS NEUROPATÍAS AUTOINMUNES: TRATAMIENTO ACTUAL.
- Published in:
- Medicina (Buenos Aires), 2022, v. 82, p. 82
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- Publication type:
- Article
AVANCES EN EL TRATAMIENTO DE LA DISTROFIA DE DUCHENNE.
- Published in:
- Medicina (Buenos Aires), 2019, v. 79, p. 77
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- Publication type:
- Article
DIAGNÓSTICO Y TRATAMIENTO DE LAS MIOPATÍAS CONGÉNITAS.
- Published in:
- Medicina (Buenos Aires), 2019, v. 79, p. 82
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- Publication type:
- Article
Genes for hereditary sensory and autonomic neuropathies: a genotype–phenotype correlation.
- Published in:
- Brain: A Journal of Neurology, 2009, v. 132, n. 10, p. 2699, doi. 10.1093/brain/awp198
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- Publication type:
- Article
Renal Phenotype in Mitochondrial Diseases: A Multicenter Study.
- Published in:
- Kidney Diseases, 2022, v. 8, n. 2, p. 148, doi. 10.1159/000521148
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- Publication type:
- Article
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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- Publication type:
- Article
Epilepsy in LAMA2‐related muscular dystrophy: An electro‐clinico‐radiological characterization.
- Published in:
- Epilepsia (Series 4), 2020, v. 61, n. 5, p. 971, doi. 10.1111/epi.16493
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- Publication type:
- Article
Platelet Derived Growth Factor-AA Correlates With Muscle Function Tests and Quantitative Muscle Magnetic Resonance in Dystrophinopathies.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.659922
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- Publication type:
- Article
Treatment of spinal muscular atrophy in European countries: A call to action.
- Published in:
- European Journal of Neurology, 2022, v. 29, n. 11, p. 3475, doi. 10.1111/ene.15522
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- Publication type:
- Article
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
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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- Publication type:
- 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
- By:
- Publication type:
- Article
Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency.
- Published in:
- 2021
- By:
- Publication type:
- journal article