0000000001246350

AUTHOR

A. Cannas

showing 3 related works from this author

A European Observational Study to Evaluate the Safety and the Effectiveness of Safinamide in Routine Clinical Practice: The SYNAPSES Trial

2021

Background: Safinamide modulates both dopaminergic and glutamatergic systems with positive effects on motor and non-motor symptoms of Parkinson's disease (PD). The drug utilization study SYNAPSES was designed to investigate the use of safinamide in routine clinical practice, as recommended by the European Medicines Agency. Objective: To describe the occurrence of adverse events in PD patients treated with safinamide in real-life conditions. Methods: The SYNAPSES trial is an observational, European, multicenter, retrospective-prospective cohort study. Patients were followed up to 12 months with analyses performed in the overall population and in patients aged >75 years, with relevant comorbi…

Research ReportMale0301 basic medicineBenzylaminesParkinson's diseaseOutcome AssessmentParkinson's diseaseComorbidityDiseaseReal-life evaluationchemistry.chemical_compound0302 clinical medicineOutcome Assessment Health Care80 and overMAO-B inhibitorAged 80 and overSafinamideeducation.field_of_studyAlanineMental DisordersParkinson DiseaseMiddle AgedMAO-B inhibitor; Parkinson's disease; Real-life evaluation; Safinamide; Aged; Aged 80 and over; Alanine; Benzylamines; Comorbidity; Drug-Related Side Effects and Adverse Reactions; Europe; Female; Follow-Up Studies; Humans; Male; Mental Disorders; Middle Aged; Monoamine Oxidase Inhibitors; Parkinson Disease; Retrospective Studies; Outcome Assessment Health CareEuropeSettore MED/26 - NEUROLOGIAFemaleErratumCohort studymedicine.medical_specialtyMonoamine Oxidase InhibitorsDrug-Related Side Effects and Adverse ReactionsPopulationMEDLINE03 medical and health sciencesCellular and Molecular NeuroscienceSafinamideInternal medicinemedicineHumansAdverse effecteducationAgedRetrospective Studiesbusiness.industryMAO-B inhibitor; Parkinson's disease; Real-life evaluation; Safinamidemedicine.diseaseHealth Care030104 developmental biologychemistryParkinson’s diseaseObservational studyNeurology (clinical)business030217 neurology & neurosurgeryFollow-Up StudiesJournal of Parkinson's Disease
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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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