0000000000485698

AUTHOR

S Gallone

showing 3 related works from this author

Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis

2021

Key Points Question What genetic variants are associated with juvenile amyotrophic lateral sclerosis (ALS)? Findings In this family-based genetic study, exome sequencing was performed in 3 patients diagnosed with juvenile ALS and failure to thrive; this identified de novo variants in SPTLC1 (p.Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient). Variants in SPTLC1 are a known cause of hereditary sensory and autonomic neuropathy, type 1A, and these data extend the phenotype associated with this gene. Meaning De novo variants in the SPTLC1 gene are associated with juvenile ALS, a fatal neurological disorder.

Hereditary sensory neuropathy; L-serine; Mutations; Deoxysphingolipids; AccumulationEnzyme complexJuvenile amyotrophic lateral sclerosisSerine C-Palmitoyltransferase/dk/atira/pure/subjectarea/asjc/2700/2728Whole Exome Sequencing0302 clinical medicineMedicineFamily historyAmyotrophic lateral sclerosisChildIndex caseExome sequencingOriginal Investigation0303 health sciencesNeurosciences and neurology3. Good healthChild PreschoolFailure to thriveFemalemedicine.symptomLife Sciences & BiomedicineL-SERINECommentsHumanAdultmedicine.medical_specialtyAdolescent; Adult; Amyotrophic Lateral Sclerosis; Child; Child Preschool; Female; Genetic Predisposition to Disease; Humans; Mutation; Serine C-Palmitoyltransferase; Whole Exome Sequencing; Young AdultAdolescentClinical NeurologyNO03 medical and health sciencesYoung AdultDEOXYSPHINGOLIPIDSInternal medicineExome SequencingOnline FirstHumansJuvenileGenetic Predisposition to DiseasePreschool030304 developmental biologyACCUMULATIONScience & TechnologySPTLC1business.industryMUTATIONSResearchAmyotrophic Lateral Sclerosis3112 Neurosciencesmedicine.diseaseHEREDITARY SENSORY NEUROPATHYjuvenileMutation3111 BiomedicineNeurology (clinical)Neurosciences & NeurologyALSgeneticbusiness030217 neurology & neurosurgeryAmyotrophic Lateral Sclerosi
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Analisi della scarsa attitudine alla vaccinazione antinfluenzale dei medici italiani del futuro: risultati di uno studio multicentrico condotto in 18…

2014

Introduzione: Nel corso della stagione influenzale, gli Operatori Sanitari (OS) rappresentano una delle categorie lavorative maggiormente investite dalla responsabilità di limitare la diffusione della patologia influenzale tra i pazienti ospedalizzati e contemporaneamente di proteggere se stessi garantendo la continuità dell'assistenza sanitaria nei periodi di maggiore assenteismo lavorativo e sovraccarico delle attività assistenziali (picco influenzale stagionale). La vaccinazione antinfluenzale, ormai riconosciuta sicura ed efficace, rappresenta ancora oggi una argomento di dibattito tra gli OS, nonostante le raccomandazioni dei Center for Disease Control and Prevention Statunitense ed Eu…

studio multicentricospecializzandiVaccinazione antinfluenzaleSettore MED/42 - Igiene Generale E Applicata
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INCIDENZA DELL'INFLUENZA LIKE-ILLNESS TRA I MEDICI IN FORMAZIONE SPECIALISTICA ITALIANI: RISULTATI DI UNO STUDIO MULTICENTRICO

2014

INFLUENZA MEDICI IN FORMAZIONESettore MED/42 - Igiene Generale E Applicata
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