303 results on '"Ferlini, Alessandra"'
Search Results
2. Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data
3. Cardiac conduction disorders in young adults: Clinical characteristics and genetic background of an underestimated population
4. mRNA in situ hybridization exhibits unbalanced nuclear/cytoplasmic dystrophin transcript repartition in Duchenne myogenic cells and skeletal muscle biopsies
5. Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience
6. SCN5A mutation is associated with a higher Shanghai Score in patients with type 1 Brugada ECG pattern
7. TeleNEwCARe: An Italian case-control telegenetics study in patients with Hereditary NEuromuscular and CARdiac diseases
8. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
9. Recommendations for whole genome sequencing in diagnostics for rare diseases
10. Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
11. RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing
12. The DMD gene and therapeutic approaches to restore dystrophin
13. The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophy
14. POPDC2 a novel susceptibility gene for conduction disorders
15. EMQN best practice guidelines for genetic testing in dystrophinopathies
16. Autosomal recessive Bethlem myopathy: A clinical, genetic and functional study
17. Chapter Biomarkers in Rare Genetic Diseases
18. Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains
19. Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network
20. DMD deletions underlining mild dystrophinopathies: literature review highlights phenotype-related mutation clusters and provides insights about genetic mechanisms and prognosis.
21. Biomarkers in Duchenne Muscular Dystrophy: Current Status and Future Directions.
22. Rare diseases' genetic newborn screening as the gateway to future genomic medicine: the Screen4Care EU-IMI project.
23. 204th ENMC International Workshop on Biomarkers in Duchenne Muscular Dystrophy 24–26 January 2014, Naarden, The Netherlands
24. Biomarkers and surrogate endpoints in Duchenne: Meeting report
25. Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype
26. causes muscular dystrophy and arrhythmia by affecting protein trafficking
27. Early neurodevelopmental assessment in Duchenne muscular dystrophy
28. The medical genetics of dystrophinopathies: Molecular genetic diagnosis and its impact on clinical practice
29. A current approach to heart failure in Duchenne muscular dystrophy
30. A Clinical Case of Catecholaminergic Polymorphic Ventricular Tachycardia: The Clinical Suspicious and the Need of Genetics
31. A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions
32. A Proof of Principle Proteomic Study Detects Dystrophin in Human Plasma: Implications in DMD Diagnosis and Clinical Monitoring.
33. Novel mutations in the SLC26A4 gene
34. Cyclosporin A Corrects Mitochondrial Dysfunction and Muscle Apoptosis in Patients with Collagen VI Myopathies
35. Diagnostic Work-Up and Risk Stratification in X-Linked Dilated Cardiomyopathies Caused by Dystrophin Defects
36. Mitochondrial Dysfunction in the Pathogenesis of Ullrich Congenital Muscular Dystrophy and Prospective Therapy with Cyclosporins
37. Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice
38. Affinity proteomics within rare diseases: a BIO‐NMD study for blood biomarkers of muscular dystrophies
39. Accurate quantification of dystrophin mRNA and exon skipping levels in Duchenne Muscular Dystrophy
40. Preclinical PK and PD Studies on 2′-O-Methyl-phosphorothioate RNA Antisense Oligonucleotides in the mdx Mouse Model
41. Best Practice Guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies
42. A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield
43. A familial case of NOG -related symphalangism spectrum disorder due to a novel NOG variant.
44. Newborn Screening by Genomic Sequencing: Opportunities and Challenges.
45. Usefulness and limitations of 99mTc-3,3-diphosphono-1,2-propanodicarboxylic acid scintigraphy in the aetiological diagnosis of amyloidotic cardiomyopathy
46. Biomarkers in rare neuromuscular diseases
47. Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients
48. A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis
49. Biochemical Characterization of Patients With In-Frame or Out-of-Frame DMD Deletions Pertinent to Exon 44 or 45 Skipping
50. Beyond canvas: behavioral onset of rfc1-expansion disease in an Italian family—causal or casual?
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