0000000001326991

AUTHOR

S Gallo

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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Treatment of primary hypercholesterolemia: comparison of the effectiveness of different statins

2000

hypercholesterolemiastatins LDL-C
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END-TO-END TEST IN STEREOTACTIC RADIOSURGERY TREATMENTS THROUGH HELICAL TOMOTHERAPY

2020

STEREOTACTIC RADIOSURGERY HELICAL TOMOTHERAPY
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Atti del Workshop: Tecniche Speciali e Avanzate di Dosimetria e Radioprotezione

2016

Atti del Workshop organizzato dall'Associazione Italiana di Radioprotezione (AIRP) in collaborazione con l'Università degli Studi di Palermo, dal titolo "Tecniche Speciali e Avanzate in Dosimetria e Radioprotezione" che si svolgerà venerdì 24 Giugno a Palermo presso l'Aula Magna del Dipartimento di Fisica e Chimica, Viale delle Scienze Edificio 18. L'evento rientra tra i 210 Eventi organizzati per i 210 anni dalla fondazione dell'Ateneo palermitano su iniziativa del Magnifico Rettore, Prof. Fabrizio Micari. L’evento prevede la discussione di 4 tematiche in ambito della dosimetria e della radioprotezione in campo sanitario ed ambientale (Dosimetria Clinica, Dosimetria Ambientale, Dosimetria …

Settore ING-IND/20 - Misure E Strumentazione NucleariSettore FIS/01 - Fisica SperimentaleDosimetria Clinica Dosimetria Ambientale Dosimetria Retrospettiva Radioprotezione Radiologia Interventistica RadiobiologiaSettore MED/36 - Diagnostica Per Immagini E RadioterapiaSettore FIS/04 - Fisica Nucleare E SubnucleareSettore FIS/07 - Fisica Applicata(Beni Culturali Ambientali Biol.e Medicin)
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