0000000001246349

AUTHOR

P. Volanti

showing 6 related works from this author

The MITOS system predicts long-term survival in amyotrophic lateral sclerosis

2015

ObjectiveThe choice of adequate proxy for long-term survival, the ultimate outcome in randomised clinical trials (RCT) assessing disease-modifying treatments for amyotrophic lateral sclerosis (ALS), is a key issue. The intrinsic limitations of the ALS Functional Rating Scale-Revised (ALSFRS-R), including non-linearity, multidimensionality and floor-effect, have emerged and its usefulness argued. The ALS Milano-Torino staging (ALS-MITOS) system was proposed as a novel tool to measure the progression of ALS and overcome these limitations. This study was performed to validate the ALS-MITOS as a 6-month proxy of survival in 200 ALS patients followed up to 18 months.MethodsAnalyses were performe…

MalePredictive Value of TestWalkingLogistic regressionALS; MOTOR NEURON DISEASE; NEUROMUSCULAR; RANDOMISED TRIALS; Adult; Aged; Amyotrophic Lateral Sclerosis; Communication; Deglutition; Disability Evaluation; Disease Progression; Double-Blind Method; Female; Humans; Male; Middle Aged; Noninvasive Ventilation; Predictive Value of Tests; ROC Curve; Respiration; Self Care; Survival Analysis; Walking; Neurology (clinical); Psychiatry and Mental Health; Surgery; Arts and Humanities (miscellaneous); Medicine (all)law.inventionALS long-term survival ALSFRS-RDisability EvaluationRandomized controlled triallawNEUROMUSCULARAmyotrophic lateral sclerosisMOTOR NEURON DISEASEALS; MOTOR NEURON DISEASE; NEUROMUSCULAR; RANDOMISED TRIALS; Neurology (clinical); Psychiatry and Mental Health; Surgery; Arts and Humanities (miscellaneous)CommunicationRespirationMedicine (all)Area under the curveMiddle Agedals motor neuron disease neuromuscular randomised trialsPsychiatry and Mental HealthPredictive value of testsDisease ProgressionSettore MED/26 - NeurologiaFemaleSurvival AnalysiHumanAdultmedicine.medical_specialtyNOSwallowingDouble-Blind MethodArts and Humanities (miscellaneous)Predictive Value of TestsInternal medicinemedicineRANDOMISED TRIALSHumansSurvival analysisAgedNoninvasive VentilationReceiver operating characteristicbusiness.industryAmyotrophic Lateral Sclerosisals; motor neuron disease; neuromuscular; randomised trials; adult; aged; amyotrophic lateral sclerosis; communication; deglutition; disability evaluation; disease progression; double-blind method; female; humans; male; middle aged; noninvasive ventilation; predictive value of tests; roc curve; respiration; self care; survival analysis; walking; neurology clinical; psychiatry and mental health; surgery; arts and humanities ; medicinemedicine.diseaseSurvival AnalysisSurgeryDeglutitionSelf CareALS; MOTOR NEURON DISEASE; NEUROMUSCULAR; RANDOMISED TRIALS; Adult; Aged; Amyotrophic Lateral Sclerosis; Communication; Deglutition; Disability Evaluation; Disease Progression; Double-Blind Method; Female; Humans; Male; Middle Aged; Noninvasive Ventilation; Predictive Value of Tests; ROC Curve; Respiration; Self Care; Survival Analysis; Walking; Surgery; Arts and Humanities (miscellaneous); Neurology (clinical); Psychiatry and Mental HealthROC CurveSurgeryNeurology (clinical)ALSbusinessAmyotrophic Lateral Sclerosi
researchProduct

NON - INVASIVE VENTILATION IN AMYOTROPHIC LATERAL SCLEROSIS: A RETROSPECTIVE STUDY

2005

researchProduct

THE VALUE OF PHYSICAL AND OCCUPATIONAL THERAPY FOR PATIENTS WITH ADVANCED MOTOR NEURON DISEASE (MND) AND SEVERE MOTOR AND FUNCTIONAL IMPAIRMENT

2008

fisioterapiaSLAALS - Occupational Therapy
researchProduct

OROPHARINGEAL CARCINOMA MIMIKING BULBAR ONSET AMYOTROPHIC LATERAL SCLEROSIS

2005

researchProduct

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
researchProduct

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
researchProduct