0000000001246227

AUTHOR

G Piccirillo

showing 2 related works from this author

ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion

2015

Abstract There are indications that both familial amyotrophic lateral sclerosis (ALS) and sporadic ALS phenotype and prognosis are partly regulated by genetic and environmental factors, supporting the theory that ALS is a multifactorial disease. The aim of this article was to assess the role of ATXN2 intermediate length repeats in a large series of Italian and Sardinian ALS patients and controls carrying a pathogenetic C9ORF72 GGGGCC hexanucleotide repeat. A total of 1972 ALS cases were identified through the database of the Italian ALS Genetic consortium, a collaborative effort including 18 ALS centers throughout Italy. The study population included: (1) 276 Italian and 57 Sardinian ALS ca…

Male0301 basic medicineAgingC9ORF72Genetic Association Studie030105 genetics & heredityBiologySettore MED/03 - GENETICA MEDICA03 medical and health sciences0302 clinical medicineC9orf72medicineAlleleAmyotrophic lateral sclerosisAmyotrophic lateral sclerosiAgedAtaxin-2Regulator geneAmyotrophic lateral sclerosis; ATXN2; C9ORF72; Phenotype; Neuroscience (all); Medicine (all); Aging; Developmental Biology; Geriatrics and Gerontology; Neurology (clinical)GeneticsDNA Repeat ExpansionNeuroscience (all)ProteinMedicine (all)General NeuroscienceATXN2Middle AgedDNA Repeat Expansionmedicine.diseaseAmyotrophic lateral sclerosis3. Good healthC9orf72 ProteinAmyotrophic lateral sclerosis; ATXN2; C9ORF72; Phenotype; Neurology (clinical); Neuroscience (all); Aging; Developmental Biology; Geriatrics and GerontologyPhenotypeItalyPopulation studyFemaleSettore MED/26 - NeurologiaNeurology (clinical)Geriatrics and GerontologyTrinucleotide repeat expansion030217 neurology & neurosurgeryHumanDevelopmental Biology
researchProduct

Erythropoietin in amyotrophic lateral sclerosis: a multicentre, randomized, double blind, placebo controlled, phase III study.

2015

Objective To assess the efficacy of recombinant human erythropoietin (rhEPO) in amyotrophic lateral sclerosis (ALS). Methods Patients with probable laboratory-supported, probable or definite ALS were enrolled by 25 Italian centres and randomly assigned (1:1) to receive intravenous rhEPO 40 000 IU or placebo fortnightly as add-on treatment to riluzole 100 mg daily for 12 months. The primary composite outcome was survival, tracheotomy or >23 h non-invasive ventilation (NIV). Secondary outcomes were ALSFRS-R, slow vital capacity (sVC) and quality of life (ALSAQ-40) decline. Tolerability was evaluated analysing adverse events (AEs) causing withdrawal. The randomisation sequence was computer-…

MaleGastroenterologylaw.inventionRandomized controlled triallaw1506Amyotrophic lateral sclerosisMOTOR NEURON DISEASEeducation.field_of_studyRecombinant ProteinMiddle AgedRecombinant ProteinsTreatment OutcomePsychiatry and Mental HealthNeuromuscularSettore MED/26 - NeurologiaFemaleerythropoietyn clinical trialmedicine.drugHumanALS; MOTOR NEURON DISEASE; Adult; Aged; Amyotrophic Lateral Sclerosis; Double-Blind Method; Erythropoietin; Female; Humans; Male; Middle Aged; Recombinant Proteins; Treatment OutcomeAdultmedicine.medical_specialtyPopulationSocio-culturalePlaceboDouble blindALS; erythropoietyn clinical trialDouble-Blind MethodArts and Humanities (miscellaneous)ALS; MOTOR NEURON DISEASE; Adult; Aged; Amyotrophic Lateral Sclerosis; Double-Blind Method; Epoetin Alfa; Erythropoietin; Female; Humans; Male; Middle Aged; Recombinant Proteins; Treatment Outcome; Neurology (clinical); Psychiatry and Mental Health; Surgery; Arts and Humanities (miscellaneous)Internal medicinemedicineALS; MOTOR NEURON DISEASEHumanseducationErythropoietinAgedbusiness.industryAmyotrophic Lateral SclerosisEpoetin alfamedicine.diseaseSurgeryClinical trialEpoetin AlfaErythropoietinSurgeryNeurology (clinical)ALSbusinessAmyotrophic Lateral Sclerosi
researchProduct