about
Novel mutations of TCOF1 gene in European patients with Treacher Collins syndromeMolecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central ItalyVacuolar Protein Sorting Genes in Parkinson's Disease: A Re-appraisal of Mutations Detection Rate and Neurobiology of DiseaseThe Monoamine Brainstem Reticular Formation as a Paradigm for Re-Defining Various Phenotypes of Parkinson's Disease Owing Genetic and Anatomical Specificity.Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients.Bone marrow and umbilical cord blood human mesenchymal stem cells: state of the artDesign, Construction and Validation of Targeted BAC Array-Based CGH Test for Detecting the Most Commons Chromosomal Abnormalities.Toward the pharmacogenomics of cystic fibrosis--an update.Gene expression analysis in myotonic dystrophy: indications for a common molecular pathogenic pathway in DM1 and DM2.The Autophagoproteasome a Novel Cell Clearing Organelle in Baseline and Stimulated Conditions.Neurons other than motor neurons in motor neuron disease.A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS).PCR-based approach for qualitative molecular analysis of six neurotropic pathogens.Methamphetamine increases Prion Protein and induces dopamine-dependent expression of protease resistant PrPsc.Four Copies of SNCA Responsible for Autosomal Dominant Parkinson's Disease in Two Italian Siblings.Loud Noise Exposure Produces DNA, Neurotransmitter and Morphological Damage within Specific Brain Areas.Direct PCR: a new pharmacogenetic approach for the inexpensive testing of HLA-B*57:01.Rapamycin promotes differentiation increasing βIII-tubulin, NeuN, and NeuroD while suppressing nestin expression in glioblastoma cellsA fluorescence-based sequence-specific primer PCR for the screening of HLA-B(*)57:01.Variations of inflammatory mediators and alpha1-antitrypsin levels after lung volume reduction surgery for emphysema.Gene symbol: ED1. Disease: Ectodermal dysplasia.Gene symbol: ED1. Disease: X-linked anhidrotic ectodermal dysplasia.mTOR-Dependent Cell Proliferation in the Brain.Assessing individual risk for AMD with genetic counseling, family history, and genetic testing.Severe and rapidly-progressive Lafora disease associated with NHLRC1 mutation: a case report.Two molecular assays for the rapid and inexpensive detection of GJB2 and GJB6 mutations.The etiology of acute recurrent pancreatitis in children: a challenge for pediatricians.Erratum to "Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease"Phenotypic Variability in a Family With Pancreatitis and Cystic Fibrosis Sharing Common Mild CFTR MutationScreening of EDA1 Gene in X-Linked Anhidrotic Ectodermal Dysplasia Using DHPLC: Identification of 14 Novel Mutations in Italian PatientsDenaturing HPLC in laboratory diagnosis of hereditary angioedemaGonadal mosaicism in hereditary angioedemaSegregation analysis in cystic fibrosis at-risk family demonstrates that the M348K CFTR mutation is a rare innocuous polymorphismEpigenetic Effects Induced by Methamphetamine and Methamphetamine-Dependent Oxidative StressMitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's DiseaseGene expression profiling of fibroblasts from a human progeroid disease (mandibuloacral dysplasia, MAD #248370) through cDNA microarraysGene symbol: ED1. Disease: Ectodermal dysplasiaMethamphetamine persistently increases alpha-synuclein and suppresses gene promoter methylation within striatal neuronsGene symbol: ED1. Disease: Ectodermal dysplasia
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P50
description
hulumtues
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Stefano Gambardella
@ast
Stefano Gambardella
@en
Stefano Gambardella
@es
Stefano Gambardella
@nl
Stefano Gambardella
@sl
type
label
Stefano Gambardella
@ast
Stefano Gambardella
@en
Stefano Gambardella
@es
Stefano Gambardella
@nl
Stefano Gambardella
@sl
prefLabel
Stefano Gambardella
@ast
Stefano Gambardella
@en
Stefano Gambardella
@es
Stefano Gambardella
@nl
Stefano Gambardella
@sl
P1053
K-4514-2016
P106
P1153
7003485483
P21
P2798
P31
P3829
P496
0000-0002-3727-4502