521 results on '"Filocamo, Mirella"'
Search Results
2. Quantifying the use of bioresources for promoting their sharing in scientific research
3. UPR activation and CHOP mediated induction of GBA1 transcription in Gaucher disease
4. Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations
5. The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers
6. MLPA-based approach for initial and simultaneous detection of GBA deletions and recombinant alleles in patients affected by Gaucher Disease
7. Gene expression profile in patients with Gaucher disease indicates activation of inflammatory processes
8. Norrbottnian clinical variant of Gaucher disease in Southern Italy
9. Treatment of Human Fibroblasts Carrying NPC1 Missense Mutations with MG132 Leads to an Improvement of Intracellular Cholesterol Trafficking
10. Validity of β-d-glucosidase activity measured in dried blood samples for detection of potential Gaucher disease patients
11. Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know
12. A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy
13. Human iPSC-based models highlight defective glial and neuronal differentiation from neural progenitor cells in metachromatic leukodystrophy
14. Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase
15. First pilot newborn screening for four lysosomal storage diseases in an Italian region: Identification and analysis of a putative causative mutation in the GBA gene
16. A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child
17. Lysosomal lipase deficiency: Molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease
18. Lysosomal storage disorders: Molecular basis and laboratory testing
19. A Novel DHPLC-Based Procedure for the Analysis of COL1A1 and COL1A2 Mutations in Osteogenesis Imperfecta
20. Characterization of the ERAD process of the L444P mutant glucocerebrosidase variant
21. GM1 gangliosidosis and Morquio B disease: An update on genetic alterations and clinical findings
22. A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Moroccan brothers
23. A multicentre observational study for early diagnosis of Gaucher disease in patients with Splenomegaly and/or Thrombocytopenia
24. Craniosynostosis: A rare complication of pycnodysostosis
25. SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants
26. Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy
27. Evidence for a Founder Effect in Sicilian Patients with Glycogen Storage Disease Type II
28. PLP1 gene duplication causes overexpression and alteration of the PLP/DM20 splicing balance in fibroblasts from Pelizaeus–Merzbacher disease patients
29. Cell surface associated glycohydrolases in normal and Gaucher disease fibroblasts
30. Glucocerebrosidase deficiency in zebrafish affects primary bone ossification through increased oxidative stress and reduced Wnt/β-catenin signaling
31. Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio—A Syndrome-Associated Mutations
32. Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation
33. Molecular analysis of NPC1 and NPC2 gene in 34 Niemann–Pick C Italian Patients: identification and structural modeling of novel mutations
34. Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles
35. Governance of Access in Biobanking: The Case of Telethon Network of Genetic Biobanks
36. Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts
37. Pharmacological Enhancement of Mutated α-Glucosidase Activity in Fibroblasts from Patients with Pompe Disease
38. Identification and characterisation of an 8.7 kb deletion and a novel nonsense mutation in two Italian families with Sanfilippo syndrome type D (mucopolysaccharidosis IIID)
39. Diagnosis of Pelizaeus–Merzbacher disease: detection of proteolipid protein gene copy number by real-time PCR
40. Further genotype–phenotype correlation emerging from two families with PLP1 exon 4 skipping
41. An Alu-mediated rearrangement as cause of exon skipping in Hunter disease
42. ITCH regulates degradation of mutant glucocerebrosidase: implications to Gaucher disease
43. Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity
44. Treatment of Human Fibroblasts Carrying NPC1 Missense Mutations with MG132 Leads to an Improvement of Intracellular Cholesterol Trafficking
45. Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patient
46. 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
47. Molecular defects in the α-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients
48. IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles
49. Functional Variants of the HMGA1 Gene and Type 2 Diabetes Mellitus
50. Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease†
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