165 results on '"Brussino, Alessandro"'
Search Results
2. Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification
3. Sperm macrocephaly syndrome in a patient without AURKC mutations and with a history of recurrent miscarriage
4. Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations
5. A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)
6. Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide
7. Two Italian Families with ITPR1 Gene Deletion Presenting a Broader Phenotype of SCA15
8. Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes
9. A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia
10. Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression
11. Large Pathogenic Expansions in the SCA2 and SCA7 Genes Can Be Detected by Fluorescent Repeat-Primed Polymerase Chain Reaction Assay
12. A novel case of congenital spinocerebellar ataxia 5: further support for a specific phenotype associated with the p.(Arg480Trp) variant in SPTBN2
13. Missense mutations in the AFG3L2 proteolytic domain account for ~1.5% of European autosomal dominant cerebellar ataxias
14. Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxia
15. SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis
16. An Enhanced Polymerase Chain Reaction Assay to Detect Pre- and Full Mutation Alleles of the Fragile X Mental Retardation 1 Gene
17. A previously undiagnosed case of Gerstmann-Sträussler-Scheinker disease revealed by PRNP gene analysis in patients with adult-onset ataxia
18. The (−16C > T) substitution in the PLEKHG4 gene is not present among European ADCA patients
19. SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22–q11.2
20. Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy
21. Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy
22. Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy
23. Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy
24. Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity
25. Gene-targeted embryonic stem cells: real-time PCR assay for estimation of the number of neomycin selection cassettes
26. Spinocerebellar Ataxia Tethering PCR
27. Mice harboring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity.
28. A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)
29. Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes
30. Clinical, neuroradiological and molecular investigation of Adult-onset Autosomal Dominant LeukoDystrophy (ADLD): dissection of Lamin B1-mediated pathophysiological mechanisms in cellular and mouse models
31. A novel case of Greenberg dysplasia and genotype–phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene‐multiple phenotypes.
32. Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28
33. LAMIN B1 EXPRESSION IS AFFECTED BY EBV INFECTION IN LYMPHOBLASTS OF PATIENTS WITH AUTOSOMAL DOMINANT LEUKODYSTROPHY THROUGH MIR-23 DEREGULATION
34. CLINICAL AND GENETIC HETEROGENEITY OF FAMILIAL LEUKOENCEPHALOPATHY AND CEREBRAL HAEMORRAGE
35. A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation
36. EXOME SEQUENCING REVEALS A NEW CLN5 MUTATION IN AN ADULT FORM OF CEREBELLAR ATAXIA
37. TWO NOVEL MISSENSE COL4A1 MUTATIONS AND GENETICS HETEROGENEITY IN PORENCEPHALY
38. A LARGE GENOMIC DELETION UPSTREAM OF THE LAMIN B1 GENE (LMNB1) LIKELY CAUSES ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY DUE TO ALTERATION OF THE REGULATORY LANDSCAPE OF LMNB1
39. Genome-wide expression analysis identified defects in cell growth, proliferation and viability in SCA28 lymphoblastoid cell lines
40. LAMIN B1 DYSREGULATION IN AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD): GENETICS AND BIOLOGICAL MECHANISMS
41. Identification of pathogenic mechanisms of Spinocerebellar Ataxia, type 28 (SCA28)
42. UNA DELEZIONE DI 660 KB A MONTE DEL GENE LAMINA B1 (LMNB1) HA UN EFFETTO ANALOGO ALLA SUA DUPLICAZIONE GENICA E CAUSA LEUCODISTROFIA AUTOSOMICA DOMINANTE DELL’ADULTO (ADLD)
43. Megalencephalic Leukoencephalopathy with subcortical Cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated by AMO treatment
44. A 660 KB DELETION CENTROMERIC TO THE LAMIN B1 GENE (LMNB1) MIMICS LMNB1 DUPLICATION AND CAUSES ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY
45. A Genome-wide Expression profiling to unravel effect of missense mutations in SCA28 patients
46. Spinocerebellar Ataxia Type 28
47. Una mutazione di splicing con inserzione di uno pseudo-esone in un caso di leucoencefalopatia megalencefalica con cisti subcorticali
48. Functional characterization of missense mutations in SCA28 patients, and development of a mouse model of the disease
49. Characterization of lamin B1 duplication breakpoints and expression analysis in ADLD patients
50. AUTOSOMAL DOMINANT LEUKODYSTROPHY: GENETIC CHARACTERIZATION OF EIGHT FAMILIES WITH HOMOGENEOUS PHENOTYPE
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