| 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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159
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Neurology care, diagnostics, and emerging therapies of the patient with Duchenne muscular dystrophy, file e309ade3-a9c4-3969-e053-3a05fe0a2c94
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158
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Antisense Oligonucleotide-Based Therapy for Neuromuscular Disease, file e309ade1-4af9-3969-e053-3a05fe0a2c94
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128
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Duchenne muscular dystrophy: From diagnosis to therapy, file e309ade2-3ed8-3969-e053-3a05fe0a2c94
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127
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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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120
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A multicenter comparison of quantification methods for antisense oligonucleotide-induced DMD exon 51 skipping in Duchenne muscular dystrophy cell cultures, file e309ade2-4331-3969-e053-3a05fe0a2c94
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106
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Urinary Stem Cells as Tools to Study Genetic Disease: Overview of the Literature, file e309ade2-3cca-3969-e053-3a05fe0a2c94
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99
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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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Defining the Diagnosis in Echocardiographically Suspected Senile Systemic Amyloidosis, file e309ade4-8c30-3969-e053-3a05fe0a2c94
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76
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Phenotypic profile of Ile68Leu transthyretin amyloidosis: an underdiagnosed cause of heart failure, file e309ade2-d6e7-3969-e053-3a05fe0a2c94
|
72
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Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants, file e309ade0-87ef-3969-e053-3a05fe0a2c94
|
65
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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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Natural History of Vanishing White Matter, file e309ade2-bd97-3969-e053-3a05fe0a2c94
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55
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Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy, file e309ade4-ca26-3969-e053-3a05fe0a2c94
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55
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Physical and transcriptional characterization of human urinary stem cell populations, file e309ade2-5afd-3969-e053-3a05fe0a2c94
|
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
|
50
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A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy, file e309ade2-b8b9-3969-e053-3a05fe0a2c94
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49
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Autophagy induction in atrophic muscle cells requires ULK1 activation by TRIM32 through unanchored K63-linked polyubiquitin chains, file e309ade2-3e11-3969-e053-3a05fe0a2c94
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48
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Carpal tunnel syndrome in cardiac amyloidosis: implications for early diagnosis and prognostic role across the spectrum of aetiologies, file e309ade3-ab26-3969-e053-3a05fe0a2c94
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46
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Chitosan-Shelled Nanobubbles Irreversibly Encapsulate Morpholino Conjugate Antisense Oligonucleotides and Are Ineffective for Phosphorodiamidate Morpholino-Mediated Gene Silencing of DUX4, file e309ade4-7ca8-3969-e053-3a05fe0a2c94
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43
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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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40
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Workload measurement for molecular genetics laboratory: A survey study, file e309ade4-83ac-3969-e053-3a05fe0a2c94
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40
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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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RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders, file e309ade0-29ca-3969-e053-3a05fe0a2c94
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35
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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
|
30
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Role of 99mTc-DPD scintigraphy in diagnosis and prognosis of hereditary transthyretin-related cardiac amyloidosis, file e309ade0-2fb4-3969-e053-3a05fe0a2c94
|
26
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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
|
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
|
23
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Can paranasal sinus computed tomography screen for cystic fibrosis heterozygotes?, file e309ade2-bf22-3969-e053-3a05fe0a2c94
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23
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Usefulness and limitations of Tc-99m-3,3-diphosphono-1,2-propanodicarboxylic acid scintigraphy in the aetiological diagnosis of amyloidotic cardiomyopathy, file e309ade4-2cb3-3969-e053-3a05fe0a2c94
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23
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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
|
20
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Biomarkers in rare neuromuscular diseases., file e309ade0-496c-3969-e053-3a05fe0a2c94
|
19
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Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy, file e309ade2-c7c0-3969-e053-3a05fe0a2c94
|
16
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The medical genetics of dystrophinopathies: Molecular genetic diagnosis and its impact on clinical practice, file e309ade0-41ab-3969-e053-3a05fe0a2c94
|
15
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Duchenne Muscular Dystrophy Myogenic Cells from Urine-Derived Stem Cells Recapitulate the Dystrophin Genotype and Phenotype, file e309ade1-3a17-3969-e053-3a05fe0a2c94
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14
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Solving unsolved rare neurological diseases—a Solve-RD viewpoint, file e309ade4-dee0-3969-e053-3a05fe0a2c94
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13
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Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases, file e309ade4-f9a4-3969-e053-3a05fe0a2c94
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12
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Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome, file e309ade5-24a0-3969-e053-3a05fe0a2c94
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12
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Natural History of Vanishing White Matter, file e309ade3-e21d-3969-e053-3a05fe0a2c94
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11
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226th ENMC International Workshop: towards validated and qualified biomarkers for therapy development for Duchenne muscular dystrophy 20–22 January 2017, Heemskerk, The Netherlands, file e309ade4-e2ee-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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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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9
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SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain, file e309ade3-d269-3969-e053-3a05fe0a2c94
|
9
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Solving patients with rare diseases through programmatic reanalysis of genome-phenome data, file e309ade4-e7f2-3969-e053-3a05fe0a2c94
|
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
|
8
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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
|
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
|
7
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Coexistent central and peripheral nervous system involvement in a Charcot-Marie-Tooth syndrome X-linked patient, file e309ade0-3401-3969-e053-3a05fe0a2c94
|
7
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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
|
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
|
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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Exon Skipping Quantification by Real-Time PCR, file e309ade0-34b7-3969-e053-3a05fe0a2c94
|
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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Dystrophin restoration in skeletal, heart and skin arrector pili smooth muscle of mdx mice by ZM2 NP-AON complexes., file e309ade1-e484-3969-e053-3a05fe0a2c94
|
6
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Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14, file e1c5a79b-c4e9-4a6d-936b-ffa09e2f1ab5
|
5
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|
Neuromuscular disease: Muscular dystrophy-something new on God's green earth?, file e309ade0-34b0-3969-e053-3a05fe0a2c94
|
5
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Muscle Proteomics Reveals Novel Insights into the Pathophysiological Mechanisms of Collagen VI Myopathies, file e309ade0-4157-3969-e053-3a05fe0a2c94
|
5
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Paternal germline mosaicism in collagen VI related myopathies, file e309ade0-88d5-3969-e053-3a05fe0a2c94
|
5
|
|
A Family with γ-Thalassemia and High Hb A2 Levels, file e309ade1-37e0-3969-e053-3a05fe0a2c94
|
5
|
|
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
|
|
SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain, file e309ade2-3de1-3969-e053-3a05fe0a2c94
|
5
|
|
Rare diseases' genetic newborn screening as the gateway to future genomic medicine: the Screen4Care EU-IMI project, file 3e3b76fe-d67a-4d39-9418-302226c6b280
|
4
|
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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
|
4
|
|
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing, file c0585547-5de8-41a7-b376-b31a069906dd
|
4
|
|
Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array, file cd8506b5-5e3d-4c58-a899-0e08c2f7985a
|
4
|
|
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
|
4
|
|
Biomarkers in Rare Diseases, file e309ade0-4966-3969-e053-3a05fe0a2c94
|
4
|
|
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis., file e309ade0-b7c0-3969-e053-3a05fe0a2c94
|
4
|
|
204th ENMC International Workshop on Biomarkers in Duchenne Muscular Dystrophy 24-26 January 2014, Naarden, The Netherlands., file e309ade0-d4ac-3969-e053-3a05fe0a2c94
|
4
|
|
International-DMD (IDMD): a PTC Therapeutics-supported diagnostic project to widely identify Dystrophin mutations by NGS technologies, file e309ade2-5900-3969-e053-3a05fe0a2c94
|
4
|
|
Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy, file e309ade2-b8b6-3969-e053-3a05fe0a2c94
|
4
|
|
Brody disease: Insights into biochemical features of SERCA1 and identification of a novel mutation, file e309ade2-bdde-3969-e053-3a05fe0a2c94
|
4
|
|
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
|
|
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
|
|
Neurological involvement in Ile68Leu (p.Ile88Leu) ATTR amyloidosis: not only a cardiogenic mutation, file 74ad1518-f05c-4c17-ac45-c800c025d3a1
|
3
|
|
Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome, file e309ade0-33ff-3969-e053-3a05fe0a2c94
|
3
|
|
LAMM syndrome with Middle Ear Dysplasia associated with compound heterozygosity for FGF3 mutations., file e309ade0-36f2-3969-e053-3a05fe0a2c94
|
3
|
|
Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective, file e309ade0-3731-3969-e053-3a05fe0a2c94
|
3
|
|
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
|
3
|
|
Melanocytes--a novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophy, file e309ade0-41a5-3969-e053-3a05fe0a2c94
|
3
|
|
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia, file e309ade1-6d4b-3969-e053-3a05fe0a2c94
|
3
|
|
Report of a novel ATP7A mutation causing distal motor neuropathy, file e309ade2-5029-3969-e053-3a05fe0a2c94
|
3
|
|
Accurate quantification of dystrophin mRNA and exon skipping levels in Duchenne Muscular Dystrophy, file e309ade2-bb56-3969-e053-3a05fe0a2c94
|
3
|
|
Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome, file e309ade2-bd98-3969-e053-3a05fe0a2c94
|
3
|
|
Best practice guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies, file e309ade2-c771-3969-e053-3a05fe0a2c94
|
3
|
|
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
|
|
TeleNEwCARe: An Italian case-control telegenetics study in patients with Hereditary NEuromuscular and CARdiac diseases, file 18716a30-2358-4048-995b-c3b1f0087cd3
|
2
|
|
Novel SCN5A Variant Shows Multiple Phenotypic Expression in the Same Family, file 7e3f18fe-59ed-41ed-8308-85e2e301c308
|
2
|
|
Macrophages: a minimally invasive tool for monitoring collagen VI myopathies, file e309ade0-2fb3-3969-e053-3a05fe0a2c94
|
2
|
|
Cyclosporine a in Ullrich congenital muscular dystrophy: Long-term results, file e309ade0-2fbc-3969-e053-3a05fe0a2c94
|
2
|
|
Diagnostic Work-Up and Risk Stratification in X-Linked Dilated Cardiomyopathies Caused by Dystrophin Defects, file e309ade0-2fbe-3969-e053-3a05fe0a2c94
|
2
|
| Totale |
2.837 |