187 results on '"Corsolini, Fabio"'
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2. Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant on SRSF4 Gene
3. P756: IMPAIRED MITOCHONDRIAL FUNCTION AND MARROW FAILURE IN PATIENTS CARRYING A MUTATION ON SRSF4 GENE
4. A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C>G splicing mutation
5. MLPA-based approach for initial and simultaneous detection of GBA deletions and recombinant alleles in patients affected by Gaucher Disease
6. Effects of Deacetylase Inhibition on the Activation of the Antioxidant Response and Aerobic Metabolism in Cellular Models of Fanconi Anemia
7. Altered Mitochondrial Dynamic in Lymphoblasts and Fibroblasts Mutated for FANCA-A Gene: The Central Role of DRP1
8. p38 mitogen-activated protein kinase inhibition enhances in vitro erythropoiesis of Fanconi anemia, complementation group A–deficient bone marrow cells
9. Validity of β-d-glucosidase activity measured in dried blood samples for detection of potential Gaucher disease patients
10. Underlying Inborn Errors of Immunity in Patients With Evans Syndrome and Multilineage Cytopenias: A Single-Centre Analysis
11. A Multidrug Approach to Modulate the Mitochondrial Metabolism Impairment and Relative Oxidative Stress in Fanconi Anemia Complementation Group A
12. PLP1 gene duplication causes overexpression and alteration of the PLP/DM20 splicing balance in fibroblasts from Pelizaeus–Merzbacher disease patients
13. GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme
14. Further genotype–phenotype correlation emerging from two families with PLP1 exon 4 skipping
15. Molecular analysis of NPC1 and NPC2 gene in 34 Niemann–Pick C Italian Patients: identification and structural modeling of novel mutations
16. Immunological profile of Fanconi anemia: A multicentric retrospective analysis of 61 patients
17. Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity
18. Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patient
19. Identification of nine new IDS alleles in mucopolysaccharidosis II. Quantitative evaluation by real-time RT-PCR of mRNAs sensitive to nonsense-mediated and nonstop decay mechanisms
20. Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease†
21. Enigmatic In Vivo Iduronate-2-Sulfatase (IDS) Mutant Transcript Correction to Wild-Type in Hunter Syndrome
22. A 9-bp deletion (2320del9) on the background of the arylsulfatase A pseudodeficiency allele in a metachromatic leukodystrophy patient and in a patient with nonprogressive neurological symptoms
23. Molecular Characterization of 22 Novel UDP-N-Acetylglucosamine-1-Phosphate Transferase α- and β-Subunit (GNPTAB) Gene Mutations Causing Mucolipidosis Types IIα/β and IIIα/β in 46 Patients
24. Molecular Analysis of ARSA and PSAP Genes in Twenty-one Italian Patients with Metachromatic Leukodystrophy: Identification and Functional Characterization of 11 Novel ARSA Alleles
25. Molecular Analysis and Characterization of Nine Novel CTSK Mutations in Twelve Patients Affected by Pycnodysostosis
26. Molecular Analysis of the HEXA Gene in Italian Patients With Infantile and Late Onset Tay-Sachs Disease: Detection of Fourteen Novel Alleles
27. FAS‐mediated apoptosis impairment in patients with ALPS/ALPS‐like phenotype carrying variants on CASP10 gene
28. Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible?
29. Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations
30. A deletion involving exons 2-4 in the iduronate-2-sulfatase gene of a patient with intermediate Hunter syndrome
31. A T>C transition causing a Leu>Pro substitution in a conserved region of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient
32. Molecular analysis of the arylsulphatase A gene in late infantile metachromatic leucodystrophy patients and healthy subjects from Italy
33. The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II
34. Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia
35. In vitrorecapitulation of the site-specific editing (to wild-type) of mutantIDSmRNA transcripts, and the characterization of IDS protein translated from the edited mRNAs
36. Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome
37. Somatic, hematologic phenotype, long-term outcome, and effect of hematopoietic stem cell transplantation. An analysis of 97 Fanconi anemia patients from the Italian national database on behalf of the Marrow Failure Study Group of the AIEOP (Italian Associ
38. Shwachman-Diamond Syndrome: Energetic Stress, Calcium Homeostasis and mTOR Pathway
39. In vitro recapitulation of the site-specific editing (to wild-type) of mutant IDS mRNA transcripts, and the characterization of IDS protein translated from the edited mRNAs.
40. Somatic Mosaicism in a Patient with Gaucher Disease Type 2: Implication for Genetic Counseling and Therapeutic Decision-Making
41. Fanconi Anemia Patients Are More Susceptible to Infection with Tumor Virus SV40
42. Restoration of the Normal Splicing Pattern of the PLP1 Gene by Means of an Antisense Oligonucleotide Directed against an Exonic Mutation
43. Further genotype–phenotype correlation emerging from two families with PLP1 exon 4 skipping
44. Kinase Inhibitors Reduce TNF-Alpha Over-Production in Monocytes From Fanconi Anemia Group A Patients
45. Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations
46. Deacetylases inhibition in cellular models of Fanconi Anemia: effects on antioxidant responses and on mitochondrial network.
47. Molecular analysis ofARSAandPSAPgenes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novelARSAalleles
48. A rare G6490 → substitution at the last nucleotide of exon 10 of the glucocerebrosidase gene in two unrelated Italian Gaucher patients
49. A deletion involving exons 2-4 in the iduronate-2-sulfatase gene of a patient with intermediate Hunter syndrome
50. Molecular analysis of theHEXAgene in Italian patients with infantile and late Onset Tay-Sachs disease: detection of fourteen novel alleles
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