0000000001182835

AUTHOR

Antonio Canosa

showing 5 related works from this author

Cognitive correlates in amyotrophic lateral sclerosis: a population-based study in Italy.

2014

Background There is less data available regarding the characteristics of cognitive impairment in patients with amyotrophic lateral sclerosis (ALS) in a population-based series. Methodology Patients with ALS incident in Piemonte, Italy, between 2009 and 2011 underwent an extensive neuropsychological battery. Cognitive status was classified as follows: normal cognition, frontotemporal dementia (ALS-FTD), executive cognitive impairment (ALS-ECI), non-executive cognitive impairment (ALS-NECI), behavioural impairment (ALS-Bi), non-classifiable cognitive impairment. We also assessed 127 age-matched and gender-matched controls identified through patients’ general practitioners. Results Out of the …

Malemedicine.medical_specialtyPediatricsNeuromuscular diseasePopulationNeuropsychological TestsSuperoxide Dismutase-1Risk FactorsmedicineDementiaHumansEPIDEMIOLOGYAmyotrophic lateral sclerosisPsychiatryeducationCognitive reserveAgededucation.field_of_studyC9orf72 ProteinSuperoxide DismutaseDEMENTIAAmyotrophic Lateral SclerosisProteinsCognitionmedicine.diseaseSurvival AnalysisALS DEMENTIA EPIDEMIOLOGYDNA-Binding ProteinsPsychiatry and Mental healthItalyCase-Control StudiesMutationSurgeryFemaleSettore MED/26 - NeurologiaNeurology (clinical)ALSPsychologyCognition DisordersMotor neurone diseaseFrontotemporal dementia
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Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

2018

© 2018 Elsevier Inc.

MaleAls geneGenome-wide association studyFAMILIAL ALSALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS0302 clinical medicine80 and overPsychologyGWASKIF5AAetiologycargoAged 80 and over0303 health sciencesFrench ALS ConsortiumKinesinKINESIN HEAVY-CHAINCognitive Sciencesaxonal transportHumanHereditary spastic paraplegiaNeuroscience(all)Single-nucleotide polymorphismTARGETED DISRUPTIONArticle03 medical and health sciencesGeneticsHumansAmino Acid SequenceLoss functionAgedHEXANUCLEOTIDE REPEATNeuroscience (all)MUTATIONSAmyotrophic Lateral Sclerosis3112 Neurosciences1702 Cognitive Sciencemedicine.diseaseITALSGEN ConsortiumAnswer ALS Foundation030104 developmental biologyALS Sequencing ConsortiumHuman medicine1109 Neurosciences030217 neurology & neurosurgery0301 basic medicineALS; GWAS; KIF5A; WES; WGS; axonal transport; cargo[SDV]Life Sciences [q-bio]KinesinsNeurodegenerativeGenetic analysisGenomeAMYOTROPHIC-LATERAL-SCLEROSIS3124 Neurology and psychiatryCohort StudiesPathogenesisLoss of Function MutationMissense mutation2.1 Biological and endogenous factorsAmyotrophic lateral sclerosisNYGC ALS ConsortiumGeneticsGeneral NeuroscienceALS axonal transport cargo GWAS KIF5A WES WGSMiddle AgedPhenotypeSettore MED/26 - NEUROLOGIANeurologicalProject MinE ALS Sequencing ConsortiumKinesinWESFemaleAdultBiologyGENOTYPE IMPUTATIONALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS; Adult; Aged; Aged 80 and over; Amino Acid Sequence; Amyotrophic Lateral Sclerosis; Cohort Studies; Female; Genome-Wide Association Study; Humans; Kinesin; Loss of Function Mutation; Male; Middle Aged; Young AdultNOYoung AdultRare DiseasesmedicineSLAGEN ConsortiumGene030304 developmental biologyClinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) ConsortiumNeurology & NeurosurgeryHuman GenomeNeurosciencesAXONAL-TRANSPORTBrain DisordersALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS;Family memberDNA-DAMAGEMOTOR-NEURONS3111 BiomedicineCohort StudieALSGenomic Translation for ALS Care (GTAC) ConsortiumWGSAmyotrophic Lateral SclerosiGenome-Wide Association StudyALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS; Neuroscience (all)
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Persistent idiopathic hypoglossal nerve palsy: A motor neuron disease-mimic syndrome?

2014

Unilateral isolated hypoglossal nerve palsy (IHNP) is a condition (1–7) usually symptomatic of a pathology of the skull base (6,8). In rare cases, IHNP remains of unknown aetiology and is classifie...

MaleHypoglossal Nerve PalsyAdolescentUnknown aetiologybusiness.industryALS mimic syndromeDiseaseAnatomyHypoglossal Nerve DiseasesMotor neuronmedicine.diseaseSkullmedicine.anatomical_structureNeurologymedicineHumansSettore MED/26 - NeurologiaNeurology (clinical)Motor Neuron DiseaseAmyotrophic lateral sclerosisbusiness
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Amyotrophic lateral sclerosis outcome measures and the role of albumin and creatinine: a population-based study.

2014

Importance There is an urgent need to identify reliable biomarkers of amyotrophic lateral sclerosis (ALS) progression for clinical practice and pharmacological trials. Objectives To correlate several hematological markers evaluated at diagnosis with ALS outcome in a population-based series of patients (discovery cohort) and replicate the findings in an independent validation cohort from an ALS tertiary center. Design, Setting, and Participants The discovery cohort included 712 patients with ALS from the Piemonte and Valle d’Aosta Register for Amyotrophic Lateral Sclerosis from January 1, 2007, to December 31, 2011. The validation cohort comprised 122 patients with ALS at different stages of…

MaleanalysisGastroenterologyCohort Studieschemistry.chemical_compoundAdult Aged Aged; 80 and over Amyotrophic Lateral Sclerosis; blood/mortality/pathology Biological Markers; blood Cohort Studies Creatinine; blood Disease Progression Female Humans Italy Lymphocyte Count Male Middle Aged Outcome Assessment (Health Care) Predictive Value of Tests Prognosis Sensitivity and Specificity Serum Albumin; analysisblood/mortality/pathologyOutcome Assessment Health Care80 and overAged 80 and overeducation.field_of_studybiologymedicine.diagnostic_testHazard ratioMiddle AgedPrognosisItalyErythrocyte sedimentation rateCreatinineCohortDisease ProgressionSettore MED/26 - NeurologiaBiological MarkersFemaleCohort studyAdultmedicine.medical_specialtyPopulationSerum albuminSensitivity and SpecificityOutcome Assessment (Health Care)bloodPredictive Value of TestsInternal medicinemedicineHumansLymphocyte CounteducationSerum AlbuminAgedCreatininebusiness.industryAmyotrophic Lateral SclerosisAlbuminchemistryImmunologybiology.proteinNeurology (clinical)ALSbusinessBiomarkersJAMA neurology
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Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

2010

Summary Using exome sequencing, we identified a p.R191Q amino acid change in the valosin-containing protein ( VCP ) gene in an Italian family with autosomal dominantly inherited amyotrophic lateral sclerosis (ALS). Mutations in VCP have previously been identified in families with Inclusion Body Myopathy, Paget disease, and Frontotemporal Dementia (IBMPFD). Screening of VCP in a cohort of 210 familial ALS cases and 78 autopsy-proven ALS cases identified four additional mutations including a p.R155H mutation in a pathologically proven case of ALS. VCP protein is essential for maturation of ubiquitin-containing autophagosomes, and mutant VCP toxicity is partially mediated through its effect on…

Adenosine TriphosphataseMaleCell Cycle ProteinsUBQLN2Cohort Studies0302 clinical medicineReference ValuesValosin Containing ProteinCell Cycle ProteinReference ValueAmyotrophic lateral sclerosisExome sequencingAdenosine TriphosphatasesGenetics0303 health sciencesGeneral NeuroscienceExonsMiddle AgedPedigree3. Good healthMultisystem proteinopathyFemaleSettore MED/26 - NeurologiaCase-Control StudieChromosomes Human Pair 9HumanFrontotemporal dementiaNeuroscience(all)Valosin-containing proteinExonBiologyProtein degradationTARDBPArticle03 medical and health sciencesmedicineHumansAged030304 developmental biologyAmyotrophic lateral sclerosis familial ALS exome sequencingNeuroscience (all)business.industryAmyotrophic Lateral Sclerosismedicine.diseaseAmino Acid SubstitutionCase-Control StudiesMutationbiology.proteinCohort Studiebusiness030217 neurology & neurosurgeryAmyotrophic Lateral SclerosiNeuron
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