| Nome |
# |
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Transcriptional and epigenetic analyses of the DMD locus reveal novel cis-acting DNA elements that govern muscle dystrophin expression, file e309ade1-7717-3969-e053-3a05fe0a2c94
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171
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POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking, file e309ade0-a582-3969-e053-3a05fe0a2c94
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165
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POPDC2 a novel susceptibility gene for conduction disorders, file e309ade4-dfb5-3969-e053-3a05fe0a2c94
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160
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Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy, file e309ade0-d00c-3969-e053-3a05fe0a2c94
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124
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Persistent Dystrophin Protein Restoration 90 Days after a Course of Intraperitoneally Administered Naked 2′OMePS AON and ZM2 NP-AON Complexes in mdx Mice, file e309ade2-3ee1-3969-e053-3a05fe0a2c94
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86
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A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield, file e309ade4-5508-3969-e053-3a05fe0a2c94
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78
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Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries, file e309ade3-3b50-3969-e053-3a05fe0a2c94
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58
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Physical and transcriptional characterization of human urinary stem cell populations, file e309ade2-5afd-3969-e053-3a05fe0a2c94
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53
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Lamin A/C Missense Mutation R216C Pinpoints Overlapping Features Between Brugada Syndrome and Laminopathies, file e309ade2-9ddb-3969-e053-3a05fe0a2c94
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50
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Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family, file e309ade2-1ad6-3969-e053-3a05fe0a2c94
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43
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Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice, file e309ade0-b077-3969-e053-3a05fe0a2c94
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37
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Predictors of cardiac arrhythmic events in non coronary artery disease patients, file e309ade4-d848-3969-e053-3a05fe0a2c94
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32
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RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing, file e309ade5-88ed-3969-e053-3a05fe0a2c94
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32
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Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3, file e309ade0-c534-3969-e053-3a05fe0a2c94
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25
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Antisense modulation of both exonic and intronic splicing motifs induces skipping of a DMD pseudo-exon responsible for X-linked dilated cardiomyopathy, file e309ade0-3472-3969-e053-3a05fe0a2c94
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24
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Duchenne muscular dystrophy and epilepsy, file e309ade0-41a8-3969-e053-3a05fe0a2c94
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21
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Early neurodevelopmental assessment in Duchenne muscular dystrophy, file e309ade0-41a9-3969-e053-3a05fe0a2c94
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20
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The medical genetics of dystrophinopathies: Molecular genetic diagnosis and its impact on clinical practice, file e309ade0-41ab-3969-e053-3a05fe0a2c94
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15
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Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies, file e309ade0-33fe-3969-e053-3a05fe0a2c94
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11
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New CACNA1A deletions are associated to migraine phenotypes, file e309ade5-34f4-3969-e053-3a05fe0a2c94
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11
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The DMD Locus Harbours Multiple Long Non-Coding RNAs Which Orchestrate and Control Transcription of Muscle Dystrophin mRNA Isoforms, file e309ade0-4c73-3969-e053-3a05fe0a2c94
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10
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The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study, file e309ade2-c0a5-3969-e053-3a05fe0a2c94
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10
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Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype, file e309ade0-3a91-3969-e053-3a05fe0a2c94
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9
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Nanoparticle-Mediated Delivery of Antisense Oligoribonucleotides Allows Restoration of Dystrophin Expression in the mdx Mouse, file e031f2bb-a3a4-4f77-83e0-2c65ca6819b9
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8
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A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies, file e309ade0-29cf-3969-e053-3a05fe0a2c94
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8
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The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5 ' X-linked dilated cardiomyopathy, file e309ade0-34b8-3969-e053-3a05fe0a2c94
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7
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Prevalence of congenital muscular dystrophy in Italy: a population study, file e309ade0-8f1b-3969-e053-3a05fe0a2c94
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7
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DMD gene molecular genetic characterization in Eastern Europe and non European countries, file e309ade2-61c0-3969-e053-3a05fe0a2c94
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7
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Functional characterization of two novel mutations in scn5a associated with brugada syndrome identified in Italian patients, file e309ade5-3a03-3969-e053-3a05fe0a2c94
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7
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Antisense-Induced Messenger Depletion Corrects a COL6A2 Dominant Mutation in Ullrich Myopathy, file 8880d778-aad1-4dde-80ac-0aa5f6a9b5ab
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6
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SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers., file e309ade0-4577-3969-e053-3a05fe0a2c94
|
6
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Huntington's disease-like presentation in Spinocerebellar ataxia type 12, file e309ade1-3b6e-3969-e053-3a05fe0a2c94
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6
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Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse, file 9df483b3-a9b9-4ae5-9b5e-66bcf6a55275
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5
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Paternal germline mosaicism in collagen VI related myopathies, file e309ade0-88d5-3969-e053-3a05fe0a2c94
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5
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A Family with γ-Thalassemia and High Hb A2 Levels, file e309ade1-37e0-3969-e053-3a05fe0a2c94
|
5
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RNAseq in urine-derived stem cells identified the expression of 308 neuromuscular gene transcripts [NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY: P.384], file e309ade1-fbb5-3969-e053-3a05fe0a2c94
|
5
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Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array, file cd8506b5-5e3d-4c58-a899-0e08c2f7985a
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4
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A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation, file e309ade0-41aa-3969-e053-3a05fe0a2c94
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4
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International-DMD (IDMD): a PTC Therapeutics-supported diagnostic project to widely identify Dystrophin mutations by NGS technologies, file e309ade2-5900-3969-e053-3a05fe0a2c94
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4
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Brody disease: Insights into biochemical features of SERCA1 and identification of a novel mutation, file e309ade2-bdde-3969-e053-3a05fe0a2c94
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4
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Type 1 Brugada Pattern Is Associated With Echocardiography-Detected Delayed Right Ventricular Outflow Tract Contraction, file eed39263-de8b-4723-90f2-406452d5e28b
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4
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Left ventricular myocardial noncompaction with advanced atrioventricular conduction disorder and ventricular arrhythmias in a young patient: Role of MIB1 gene, file 62d9c485-10cf-498f-bdf1-bca1010b1ce3
|
3
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LAMM syndrome with Middle Ear Dysplasia associated with compound heterozygosity for FGF3 mutations., file e309ade0-36f2-3969-e053-3a05fe0a2c94
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3
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Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis, file e309ade0-374d-3969-e053-3a05fe0a2c94
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3
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Melanocytes--a novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophy, file e309ade0-41a5-3969-e053-3a05fe0a2c94
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3
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Report of a novel ATP7A mutation causing distal motor neuropathy, file e309ade2-5029-3969-e053-3a05fe0a2c94
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3
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Intrapericardial rupture of aortic aneurysm in anatomic aortic arch variant: a multidisciplinary approach, file e309ade2-9e5a-3969-e053-3a05fe0a2c94
|
3
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Urine-Derived Stem Cells Express 571 Neuromuscular Disorders Causing Genes, Making Them a Potential in vitro Model for Rare Genetic Diseases, file e309ade5-2daf-3969-e053-3a05fe0a2c94
|
3
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Novel SCN5A Variant Shows Multiple Phenotypic Expression in the Same Family, file 7e3f18fe-59ed-41ed-8308-85e2e301c308
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2
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Macrophages: a minimally invasive tool for monitoring collagen VI myopathies, file e309ade0-2fb3-3969-e053-3a05fe0a2c94
|
2
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Patterns of late gadolinium enhancement in Duchenne muscular dystrophy carriers, file e309ade0-41cf-3969-e053-3a05fe0a2c94
|
2
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Antisense-Induced Messenger Depletion Corrects a COL6A2 Dominant Mutation in Ullrich Myopathy, file e309ade0-446c-3969-e053-3a05fe0a2c94
|
2
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Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case report, file e309ade0-4575-3969-e053-3a05fe0a2c94
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2
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6 minute walk test in Duchenne MD patients with different mutations: 12 month changes, file e309ade0-496b-3969-e053-3a05fe0a2c94
|
2
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|
null, file e309ade0-ac1e-3969-e053-3a05fe0a2c94
|
2
|
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Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies, file e309ade0-c632-3969-e053-3a05fe0a2c94
|
2
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POPDC2 a novel susceptibility gene for conduction disorders, file e309ade2-e09b-3969-e053-3a05fe0a2c94
|
2
|
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Omics approach and novel biostatistic tools identified RPL3L as potential genetic modifier of clinical severity in female carriers of Duchenne muscle dystrophy, file e309ade3-1e2a-3969-e053-3a05fe0a2c94
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2
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A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies, file e309ade3-ac46-3969-e053-3a05fe0a2c94
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2
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Brugada ECG pattern in hypertrophic cardiomyopathy: Brugada phenocopy or overlapping syndrome?, file e309ade5-2f16-3969-e053-3a05fe0a2c94
|
2
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Beyond canvas: behavioral onset of rfc1-expansion disease in an Italian family-causal or casual?, file 6141e38b-9183-4ff3-9db6-c8312df36185
|
1
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Clinical presentations leading to arrhythmogenic left ventricular cardiomyopathy, file bf93ad20-b1a8-4fba-856a-826184d65d80
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1
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Transcriptional behavior of DMD gene duplications in DMD/BMD males, file e309ade0-29cd-3969-e053-3a05fe0a2c94
|
1
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Autosomal recessive Bethlem myopathy, file e309ade0-3380-3969-e053-3a05fe0a2c94
|
1
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Prenatal diagnosis of Duchenne muscular dystrophy by comparative genomic hybridization, file e309ade0-3381-3969-e053-3a05fe0a2c94
|
1
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Exon skipping-mediated dystrophin reading frame restoration for small mutations, file e309ade0-3387-3969-e053-3a05fe0a2c94
|
1
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|
Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy, file e309ade0-3ba5-3969-e053-3a05fe0a2c94
|
1
|
|
A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield, file e309ade0-87f2-3969-e053-3a05fe0a2c94
|
1
|
|
Transcriptomics analysis in collagen VI myopathy: Role of circadian genes using novel fluidic card tools, file e309ade0-f00f-3969-e053-3a05fe0a2c94
|
1
|
|
International-DMD (IDMD): a PTC Therapeutics-supported diagnostic project to widely identify Dystrophin mutations by NGS technologies, file e309ade2-c1b3-3969-e053-3a05fe0a2c94
|
1
|
|
The medical genetics of dystrophinopathies: Molecular genetic diagnosis and its impact on clinical practice, file e309ade2-c4ee-3969-e053-3a05fe0a2c94
|
1
|
| Totale |
1.403 |