0000000000293522

AUTHOR

Filippo Martinelli Boneschi

showing 4 related works from this author

A multi-step genomic approach prioritized TBKBP1 gene as relevant for multiple sclerosis susceptibility

2022

Abstract Background Over 200 genetic loci have been associated with multiple sclerosis (MS) explaining ~ 50% of its heritability, suggesting that additional mechanisms may account for the “missing heritability” phenomenon. Objective To analyze a large cohort of Italian individuals to identify markers associated with MS with potential functional impact in the disease. Methods We studied 2571 MS and 3234 healthy controls (HC) of continental Italian origin. Discovery phase included a genome wide association study (1727 MS, 2258 HC), with SNPs selected according to their association in the Italian cohort only or in a meta-analysis of signals with a cohort of European ancestry (4088 MS, 7144 HC)…

NeurologyGenetics Genome-wide association study Multiple sclerosis Susceptibility TBKBP1Neurology (clinical)Journal of Neurology
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No evidence of ATP1A2 involvement in 12 multiplex Italian families with benign familial infantile seizures

2005

A missense mutation in the gene encoding the alpha(2) Subunit of the Na+,K+ ATPase pump (ATP1A2) was found in a family with both familial hemiplegic migraine (FHM) and Benign Familial Infantile Seizures (BFIC). As it is still unclear whether ATP1A2 is responsible for pure BFIC syndromes, we checked mutations of the ATP1A2 gene in probands of 12 Italian multiplex families with pure BFIC, who were negative for mutations in the SCN2A gene. We screened the ATP1A2 gene by denaturing high performance liquid chromatography (D-HPLC) and direct sequencing of DNA fragments showing an aberrant elution pattern. We found one exonic variant and five intronic variants, none leading to significant amino ac…

ProbandBenign NeonatalMigraine DisordersMutation MissenseBenign familial infantile convulsionsBiologymedicine.disease_causeDenaturing high performance liquid chromatographyBenign familial infantile convulsions; Epilepsy; Familial hemiplegic migraine; Genetics; Epilepsy Benign Neonatal; Exons; Family Health; Humans; Infant; Introns; Italy; Migraine Disorders; Sodium-Potassium-Exchanging ATPase; Mutation MissenseExonATP1A2GeneticsmedicineHumansMissense mutationGeneFamilial hemiplegic migraineFamilial hemiplegic migraineFamily HealthGeneticsMutationEpilepsyGeneral NeuroscienceInfantExonsmedicine.diseaseEpilepsy Benign NeonatalIntronsItalyMutationBenign familial infantile convulsionMissenseSodium-Potassium-Exchanging ATPaseNeuroscience Letters
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Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families.

2006

Summary: Purpose: Benign familial infantile seizures (BFIS) is a genetically heterogeneous condition characterized by partial seizures, onset age from 3 to 9 months, and favorable outcome. BFIS loci were identified on chromosomes 19q12-13.1 and 16p12-q12, allelic to infantile convulsions and choreathetosis. The identification of SCN2A mutations in families with only infantile seizures indicated that BFNIS and BFIS may show overlapping clinical features. Infantile seizures also were in a family with familial hemiplegic migraine and mutations in the ATP1A2 gene. We have examined the heterogeneous genetics of BFIS by means of linkage analysis. Methods: Sixteen families were examined. Probands …

ProbandMaleGenetic LinkagePenetranceEpilepsyModelsgeneticsTomographyFamilial hemiplegic migraineGeneticsNeurologic ExaminationBrainChromosome MappingElectroencephalographyPenetranceMagnetic Resonance Imagingstatistics /&/ numerical dataPedigreeX-Ray ComputedNeurologyFemaleHumanmedicine.medical_specialtyBenign NeonatalBrain; pathology/radiography Chromosome Mapping Chromosomes; Human; Pair 16; genetics Chromosomes; Pair 19; genetics Electroencephalography; statistics /&/ numerical data Epilepsy; Benign Neonatal; diagnosis/genetics Family Female Genetic Heterogeneity Genetic Linkage Haplotypes Humans Magnetic Resonance Imaging Male Models; Genetic Mutation; genetics Neurologic Examination Pedigree Penetrance Tomography; X-Ray Computedpathology/radiographyChromosomesGenetic HeterogeneityGeneticGenetic linkageFebrile seizureGenetic modelmedicineHumansFamilyPsychiatryEpilepsyModels GeneticPair 19Genetic heterogeneitybusiness.industryPair 16medicine.diseaseEpilepsy Benign NeonatalHaplotypesMutationNeurology (clinical)Tomography X-Ray ComputedbusinessChromosomes Human Pair 19Chromosomes Human Pair 16diagnosis/genetics
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An APOE haplotype associated with decreased ε4 expression increases the risk of late onset Alzheimer's disease.

2011

This paper addresses a tenet of the literature on APOE, i.e., the relationship between the effects of the e4, one of the established genetic risk factor for Alzheimer's disease (AD), and its expression levels as determined by APOE promoter polymorphisms. Five polymorphisms (-491 rs449647, -427 rs769446, -219 rs405509, and e rs429358-rs7412) were studied in 1308 AD patients and 1082 control individuals from the Central-Northern Italy. Major findings of the present study are the following: 1) the variants -219T and e4 increase the risk for late onset AD (LOAD) when they are both present in cis on the same chromosome (in phase); 2) the correlation between the haplotype (-219T/e4) and AD risk p…

Apolipoprotein EMaleLinkage disequilibriumGENETICSApolipoprotein E4Late onsetGenome-wide association studyBiologyPolymorphism Single NucleotideLinkage DisequilibriumAlzheimer DiseaseRisk FactorsmedicineHumansGenetic Predisposition to DiseaseLongitudinal StudiesAlleleGeneticsChi-Square DistributionGeneral NeuroscienceHaplotypeAge FactorsGeneral MedicineSingle Nucleotidemedicine.diseasePOLYMORPHISMPsychiatry and Mental healthClinical PsychologyHaplotypesItalyFemaleApolipoprotein EGeriatrics and GerontologyAlzheimer's diseaseAge of onsetGenome-Wide Association StudyJournal of Alzheimer's disease : JAD
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