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Expression analysis of the gene encoding for the U-box-type ubiquitin ligase UBE4A in human tissuesTransmission ratio distortion in the spinal muscular atrophy locus: data from 314 prenatal tests.Risk prediction for clinical phenotype in myotonic dystrophy type 1: data from 2,650 patients.Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients.Functional characterization of the 5' flanking region of human ubiquitin fusion degradation 1 like gene (UFD1L).Characterization of a single nucleotide polymorphism in the ZNF9 gene and analysis of association with myotonic dystrophy type II (DM2) in the Italian population.Comparative mapping of the DiGeorge syndrome region in mouse shows inconsistent gene order and differential degree of gene conservation.Effect of the [CCTG]n repeat expansion on ZNF9 expression in myotonic dystrophy type II (DM2).Premature senescence in primary muscle cultures of myotonic dystrophy type 2 is not associated with p16 induction.Overexpression of CUGBP1 in skeletal muscle from adult classic myotonic dystrophy type 1 but not from myotonic dystrophy type 2.Altered Ca2+ homeostasis and endoplasmic reticulum stress in myotonic dystrophy type 1 muscle cells.Gene expression analysis in myotonic dystrophy: indications for a common molecular pathogenic pathway in DM1 and DM2.SCN4A mutation as modifying factor of myotonic dystrophy type 2 phenotype.Generation of Human Induced Pluripotent Stem Cells from Extraembryonic Tissues of Fetuses Affected by Monogenic Diseases.Epstein-Barr virus infection induces miR-21 in terminally differentiated malignant B cells.Validation of sensitivity and specificity of tetraplet-primed PCR (TP-PCR) in the molecular diagnosis of myotonic dystrophy type 2 (DM2).Ribonuclear inclusions and MBNL1 nuclear sequestration do not affect myoblast differentiation but alter gene splicing in myotonic dystrophy type 2.Expansion size and presence of CCG/CTC/CGG sequence interruptions in the expanded CTG array are independently associated to hypermethylation at the DMPK locus in myotonic dystrophy type 1 (DM1).Progression of muscle histopathology but not of spliceopathy in myotonic dystrophy type 2.Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2.Expression analysis and protein localization of the human HPC-1/syntaxin 1A, a gene deleted in Williams syndrome.The myotonic dystrophy type 2 (DM2) gene product zinc finger protein 9 (ZNF9) is associated with sarcomeres and normally localized in DM2 patients' muscles.Causes of the phenotype–genotype dissociation in DiGeorge syndrome: clues from mouse modelsSearching for Psoriasis Susceptibility Genes in Italy: Genome Scan and Evidence for a New Locus on Chromosome 1Simultaneous detection of ΔF508, G542X, N1303K, G551D, and 1717-1G→A cystic fibrosis alleles by a multiplex DNA enzyme immunoassayAberrant splicing and expression of the non muscle myosin heavy-chain gene MYH14 in DM1 muscle tissuesNormal myogenesis and increased apoptosis in myotonic dystrophy type-1 muscle cellsUse of RNA Fluorescence In Situ Hybridization in the Prenatal Molecular Diagnosis of Myotonic Dystrophy Type ICongenital heart disease in mice deficient for the DiGeorge syndrome regionExclusion of the elastin gene in the pathogenesis of Costello syndromeCarrier frequency of CFTR variants in the non-Caucasian populations by genome aggregation database (gnomAD)-based analysis
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description
onderzoeker
@nl
researcher
@en
հետազոտող
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name
Annalisa Botta
@ast
Annalisa Botta
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Annalisa Botta
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Annalisa Botta
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type
label
Annalisa Botta
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Annalisa Botta
@en
Annalisa Botta
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Annalisa Botta
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prefLabel
Annalisa Botta
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Annalisa Botta
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Annalisa Botta
@es
Annalisa Botta
@nl
P106
P1153
7005993766
P31
P496
0000-0003-4031-5624