60 results on '"Ferlini, Alessandra"'
Search Results
2. 263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May 2022
3. Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14
4. TeleNEwCARe: An Italian case-control telegenetics study in patients with Hereditary NEuromuscular and CArdiac diseases
5. THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder
6. RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing
7. Parkinson's disease-dementia in trans LRP10 and GBA variants: Response to deep brain stimulation
8. Biomarkers in rare neuromuscular diseases
9. The DMD gene and therapeutic approaches to restore dystrophin
10. The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophy
11. Type 1 Brugada Pattern Is Associated With Echocardiography-Detected Delayed Right Ventricular Outflow Tract Contraction
12. Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity
13. POPDC2 a novel susceptibility gene for conduction disorders
14. Autosomal recessive Bethlem myopathy: A clinical, genetic and functional study
15. WITHDRAWN: Autosomal recessive Bethlem myopathy: A clinical, genetic and functional study
16. Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy
17. 226th ENMC International Workshop
18. A CMT2 family carrying the P7R mutation in the N- terminal region of the HSPB1 gene
19. Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders
20. Transcriptional and epigenetic analyses of the DMD locus reveal novel cis ‑acting DNA elements that govern muscle dystrophin expression
21. A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions
22. Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains
23. Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy
24. Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript
25. Paternal germline mosaicism in collagen VI related myopathies
26. 204th ENMC International Workshop on Biomarkers in Duchenne Muscular Dystrophy 24–26 January 2014, Naarden, The Netherlands
27. Biomarkers and surrogate endpoints in Duchenne: Meeting report
28. Biomarkers in rare neuromuscular diseases
29. SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers
30. Early neurodevelopmental assessment in Duchenne muscular dystrophy
31. The medical genetics of dystrophinopathies: Molecular genetic diagnosis and its impact on clinical practice
32. Corrigendum to “MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region” [Brain Dev 2001; 23: S246–50]
33. Attention Deficit Hyperactivity Disorder and Cognitive Function in Duchenne Muscular Dystrophy: Phenotype-Genotype Correlation
34. Novel mutations in the SLC26A4 gene
35. Defining the Diagnosis in Echocardiographically Suspected Senile Systemic Amyloidosis
36. Expression of collagen VI α5 and α6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosis
37. NON-INVASIVE IDENTIFICATION OF SENILE SYSTEMIC AMYLOIDOSIS: INCREMENTAL DIAGNOSTIC ROLE OF 99MTC-DPD SCINTIGRAPHY
38. Diagnostic Work-Up and Risk Stratification in X-Linked Dilated Cardiomyopathies Caused by Dystrophin Defects
39. Response
40. Role of 99mTc-DPD Scintigraphy in Diagnosis and Prognosis of Hereditary Transthyretin-Related Cardiac Amyloidosis
41. The risks of therapeutic misconception and individual patient (n=1) “trials” in rare diseases such as Duchenne dystrophy
42. Accurate quantification of dystrophin mRNA and exon skipping levels in Duchenne Muscular Dystrophy
43. Best Practice Guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies
44. Preclinical PK and PD Studies on 2′-O-Methyl-phosphorothioate RNA Antisense Oligonucleotides in the mdx Mouse Model
45. Accurate quantification of dystrophin mRNA and exon skipping levels in Duchenne Muscular Dystrophy
46. Cationic PMMA Nanoparticles Bind and Deliver Antisense Oligoribonucleotides Allowing Restoration of Dystrophin Expression in the mdx Mouse
47. Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human
48. Recurrent syncope as persistently isolated feature of transthyretin amyloidotic polyneuropathy
49. In vivo study of an aberrant dystrophin exon inclusion in X-linked dilated cardiomyopathy
50. Dystrophin and mutations: one gene, several proteins, multiple phenotypes
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