0000000000482196

AUTHOR

A Gambardella

showing 4 related works from this author

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9…

2012

A large hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72, a gene located on chromosome 9p21, has been recently reported to be responsible for 40% of familial amyotrophic lateral sclerosis cases of European ancestry. The aim of the current article was to describe the phenotype of amyotrophic lateral sclerosis cases carrying the expansion by providing a detailed clinical description of affected cases from representative multi-generational kindreds, and by analysing the age of onset, gender ratio and survival in a large cohort of patients with familial amyotrophic lateral sclerosis. We collected DNA and analysed phenotype data for 141 index Italian familial amyotrophic l…

MaleParentsPathologyphenotype-genotype correlationCohort Studies0302 clinical medicineC9orf72amyotrophic lateral sclerosigeneticsAmyotrophic lateral sclerosisAge of Onsetamyotrophic lateral sclerosis; familial als; C9Orf72; phenotype-genotype correlation0303 health sciencesSex CharacteristicsDNA Repeat ExpansionAdult Age of Onset Aged Amyotrophic Lateral Sclerosis; genetics/pathology Cohort Studies DNA Repeat Expansion DNA; genetics Female Humans Italy Male Middle Aged Mutation; genetics Parents Pedigree Phenotype Proteins; genetics Sex Characteristics Survival AnalysisMiddle Aged3. Good healthPedigreeSettore MED/26 - NEUROLOGIAPhenotypeItalyC9Orf72Settore MED/26 - NeurologiaFemaleFrontotemporal dementiaAdultmedicine.medical_specialtySOD1BiologyTARDBP03 medical and health sciencesInternal medicinemedicineHumans030304 developmental biologyAgedamyotrophic lateral sclerosis familial ALS C9ORF72 gene phenotype–genotype correlationC9orf72 ProteinAmyotrophic Lateral Sclerosisgenetics/pathologyProteinsOriginal ArticlesDNAmedicine.diseaseSurvival AnalysisC9orf72 ProteinSettore BIO/18 - Geneticaamyotrophic lateral sclerosis; familial ALS C9ORF72 gene; phenotype-genotype correlation;MutationNeurology (clinical)Age of onsetTrinucleotide repeat expansionfamilial al030217 neurology & neurosurgery
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"Baseline physical functioning status of metastatic colorectal cancer patients predicts the overall survival but not the activity of a front-line oxa…

2010

BACKGROUND: No differences in response rate (RR), progression-free survival (PFS), overall survival (OS) and quality of life (QoL) were seen in patients randomly treated with biweekly oxaliplatin plus either fluorouracil/folinic acid or capecitabine. METHODS: We investigated the independent effect of baseline clinical characteristics and physical functioning (PF) domain on RR, PFS, and OS in 310 patients who completed the EORTC QLQ-C30 questionnaire. Multivariate analyses stratified by treatment were performed. An exploratory analysis was done by grouping patients with a PF score superior or equal to the highest quartile (n = 111), included between the highest and the lowest quartiles (n = …

AdultMalemedicine.medical_specialtyMultivariate analysisColorectal cancerSettore MED/06 - Oncologia MedicaKaplan-Meier EstimateGastroenterologyDisease-Free SurvivalCapecitabineTreatment Outcome; Prognosis; Aged 80 and over; Male; Retrospective Studies; Randomized Controlled Trials as Topic; Middle Aged; Kaplan-Meier Estimate; Colorectal Neoplasms; Female; Disease-Free Survival; Humans; Quality of Life; Antineoplastic Combined Chemotherapy Protocols; Clinical Trials Phase III as Topic; Aged; Adult; Health Status Indicators; Multicenter Studies as TopicFolinic acidQuality of lifeInternal medicineAntineoplastic Combined Chemotherapy Protocols80 and overmedicineOverall survivalHealth Status IndicatorsHumansMulticenter Studies as TopicClinical TrialsRadiology Nuclear Medicine and imagingneoplasmsmetastatic colorectal canceroxaliplatin physical functioning statusAgedRandomized Controlled Trials as TopicRetrospective StudiesAged 80 and overbusiness.industryHematologyGeneral MedicineMiddle AgedPrognosismedicine.diseaseSurgeryOxaliplatinPhase III as TopicTreatment OutcomeClinical Trials Phase III as TopicOncologyQuartileQuality of LifeFemaleColorectal Neoplasmsbusinessmedicine.drug
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Oncogeriatry: Communication, sharing, coordination of an emerging reality. The IIIrd Official Meeting of the AIOM Working Group on Oncogeriatry

2010

The clinical management of the oncological elderly patient represents one of the most important challenges for today's oncology and, above all, for the future. The number of elderly patients with neoplastic pathologies is destined to increase proportionally to the duration of life and therefore a correct management of their conditions becomes an element of priority from the scientific and economic point of view. Close relationships and collaborations between Oncologist and Geriatrics are definitely desirable to be able to guarantee the best way for a good treatment (specific and of support) of these elderly patients. The components of the AIOM Working Group on Oncogeriatry have gathered the…

Working groupSettore MED/06 - Oncologia MedicaGuidelineOncogeriatry
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Identification of three novel progranulin mutations in a series of patients affected by sporadic and familial frontotemporal lobar de generation. Pla…

2009

progranulinSettore MED/26 - Neurologiafrontotemporal dementia
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