0000000000504843

AUTHOR

A. Gambardella

showing 8 related works from this author

Frequency and clinical features of progranulin mutation carriers in a series of patients affected by frontotemporal lobar de generation: report of a …

2010

Settore MED/26 - Neurologiaprogranulin mutation frontotemporal dementia
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Health-related quality of life in epilepsy: findings obtained with a new Italian instrument

2008

The aim of the present study was to evaluate the Epi-QoL, a new Italian-specific measure of health-related quality of life (HRQOL) for adults with epilepsy; the clinical variables that affected the HRQOL score were also assessed. The Epi-QoL is a 46-item self-administered questionnaire focusing on six domains: Physical Functioning, Cognitive Functioning, Emotional Well-Being, Social Functioning, Seizure Worry, and Medication Effects. Eight hundred fifteen patients recruited from 24 secondary and tertiary Italian centers for the care of epilepsy were assessed. The results supported the reliability and validity of the Epi-QoL as a measure of HRQOL. The variables that significantly affected HR…

AdultMaleQuestionnairesmedicine.medical_specialtymedia_common.quotation_subjectHealth StatusMEDLINEHRQOL epilepsy questionnairepsychologySeverity of Illness IndexBehavioral NeuroscienceEpilepsyQuality of life (healthcare)epidemiology/psychologySurveys and QuestionnairesSeverity of illnessMedicineHealth Status IndicatorsHumansCognitive skillPsychiatrymedia_commonHealth related quality of lifeEpilepsybusiness.industryAdult Epilepsy; epidemiology/psychology Female Health Status Health Status Indicators Humans Italy; epidemiology Male Middle Aged Quality of Life; psychology Questionnaires Severity of Illness IndexMiddle Agedmedicine.diseaseComorbidityhumanitiesSettore MED/26 - NEUROLOGIANeurologyItalyQuality of LifeepidemiologyFemaleNeurology (clinical)Worrybusiness
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Seed layer technique for high quality epitaxial manganite films

2016

We introduce an innovative approach to the simultaneous control of growth mode and magnetotransport properties of manganite thin films, based on an easy-to-implement film/substrate interface engineering. The deposition of a manganite seed layer and the optimization of the substrate temperature allows a persistent bi-dimensional epitaxy and robust ferromagnetic properties at the same time. Structural measurements confirm that in such interface-engineered films, the optimal properties are related to improved epitaxy. A new growth scenario is envisaged, compatible with a shift from heteroepitaxy towards pseudo-homoepitaxy. Relevant growth parameters such as formation energy, roughening tempera…

Materials scienceFerromagnetic material propertiesDielectrophoresisGeneral Physics and AstronomyMagnetic filmsNanotechnology02 engineering and technologySubstrate (electronics)Epitaxy01 natural sciencesNOPhysics and Astronomy (all)0103 physical sciencesThin film growthThin film010306 general physicsDeposition (law)business.industry021001 nanoscience & nanotechnologyManganitelcsh:QC1-999X-ray diffractionChemical stateOptoelectronics0210 nano-technologybusinessLayer (electronics)lcsh:PhysicsRegular ArticlesEpitaxyAIP Advances
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Weekly cisplatin-epirubicin-paclitaxel vs. dose-dense cisplatin-epirubicin-vinorelbine in locally advanced breast cancer: Interim analysis of the SIC…

2007

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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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“Cisplatin (P)- including triplets versus P-free doublets in the treatment of locally advanced or metastatic non-small cell lung cancer (NSCLC): SICO…

2006

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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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Management of biological therapies for chronic plaque psoriasis during COVID-19 emergency in Italy

2020

The coronavirus disease 2019 (COVID-19), caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, is creating an unprecedented global public health emergency with the continuous growth of infected individuals worldwide. Italy was one of the first European country to face the first wave of infection outside mainland China. The first case of COVID-19 was confirmed in Lombardy on February 20th , 2020, and subsequently, a rapid increase in the number of detected cases was observed, spreading through Italy and the rest of Europe.3 As of April 22nd , confirmed COVID-19 cases in Italy were 183,957.

medicine.medical_specialtyTildrakizumabBiolgical therapy; COVID-19; PsoriasisSettore MED/35PsoriasisChronic Disease; Emergencies; Humans; Italy; Psoriasis; Biological Therapy; COVID-19UstekinumabmedicineAdalimumabHumansPsoriasisbiologicsIntensive care medicineLetter to the Editorpsoriasipsoriasis; biologics; covid-19; pandemicEmergenciePsoriasiRisankizumabbusiness.industrySARS-CoV-2pandemicBiolgical therapyCOVID-19medicine.diseasedermatologyBiological TherapyIxekizumabGuselkumabInfectious Diseasescovid-19ItalyChronic DiseaseSecukinumabEmergenciesbusinessSettore MED/35 - MALATTIE CUTANEE E VENEREEbiologicCOVID-19 psoriasis biological therapiesmedicine.drugHuman
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