0000000001143296

AUTHOR

K. Marinou

showing 3 related works from this author

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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Genetic counselling in ALS: facts, uncertainties and clinical suggestions

2013

The clinical approach to patients with amyotrophic lateral sclerosis (ALS) has been largely modified by the identification of novel genes, the detection of gene mutations in apparently sporadic patients, and the discovery of the strict genetic and clinical relation between ALS and frontotemporal dementia (FTD). As a consequence, clinicians are increasingly facing the dilemma on how to handle genetic counselling and testing both for ALS patients and their relatives. On the basis of existing literature on genetics of ALS and of other late-onset life-threatening disorders, we propose clinical suggestions to enable neurologists to provide optimal clinical and genetic counselling to patients and…

medicine.medical_specialtyGenotypeGENETICSGenetic counselingGenetic CounselingGene mutationSettore MED/03 - GENETICA MEDICAmedicineHumansGenetic TestingAmyotrophic lateral sclerosisGenetic discriminationPsychiatryGenetic testingmedicine.diagnostic_testbusiness.industryAmyotrophic Lateral Sclerosismedicine.diseasePenetranceALS; GENETICS3. Good healthPsychiatry and Mental healthPhenotypeFrontotemporal DementiaMutationSurgerySettore MED/26 - NeurologiaNeurology (clinical)ALSbusinessMotor neurone diseaseFrontotemporal dementiaJournal of Neurology, Neurosurgery & Psychiatry
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Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis.

2013

MATR3 is an RNA- and DNA-binding protein that interacts with TDP-43, a disease protein linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. Using exome sequencing, we identified mutations in MATR3 in ALS kindreds. We also observed MATR3 pathology in ALS-affected spinal cords with and without MATR3 mutations. Our data provide more evidence supporting the role of aberrant RNA processing in motor neuron degeneration. © 2014 Nature America, Inc. All rights reserved.

MaleAged Aged; 80 and over Amyotrophic Lateral Sclerosis; genetics/pathology Computational Biology DNA Mutational Analysis DNA-Binding Proteins; metabolism Family Health Female Genetic Predisposition to Disease; genetics Genotype Humans Male Middle Aged Muscle; Skeletal; metabolism/pathology Mutation; genetics Neurologic Examination Nuclear Matrix-Associated Proteins; genetics/metabolism RNA-Binding Proteins; genetics/metabolism Spinal Cord; metabolism/pathologyDNA Mutational Analysisgenetics/metabolismRNA-binding proteinSettore MED/03 - GENETICA MEDICAmedicine.disease_cause0302 clinical medicineNuclear Matrix-Associated ProteinsGenotype80 and overgeneticsAmyotrophic lateral sclerosisExome sequencingGeneticsAged 80 and overNeurologic Examination0303 health sciencesMutationGeneral NeuroscienceRNA-Binding ProteinsSkeletalMiddle AgedDNA-Binding ProteinsMATR3medicine.anatomical_structureSpinal Cordfamilial amyotrophic lateral sclerosisMuscleSettore MED/26 - NeurologiaFemaleFrontotemporal dementiametabolism/pathologyGenotypeArticle03 medical and health sciencesgenetics; familial amyotrophic lateral sclerosismental disordersmedicineHumansGenetic Predisposition to DiseaseMuscle Skeletal030304 developmental biologyAgedFamily Healthbusiness.industryAmyotrophic Lateral Sclerosisgenetics/pathologyRNAComputational BiologySpinal cordmedicine.diseaseMutationgeneticbusinessNeurosciencemetabolism030217 neurology & neurosurgery
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