0000000000420336

AUTHOR

Erik P. Pioro

showing 3 related works from this author

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

2018

© 2018 Elsevier Inc.

MaleAls geneGenome-wide association studyFAMILIAL ALSALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS0302 clinical medicine80 and overPsychologyGWASKIF5AAetiologycargoAged 80 and over0303 health sciencesFrench ALS ConsortiumKinesinKINESIN HEAVY-CHAINCognitive Sciencesaxonal transportHumanHereditary spastic paraplegiaNeuroscience(all)Single-nucleotide polymorphismTARGETED DISRUPTIONArticle03 medical and health sciencesGeneticsHumansAmino Acid SequenceLoss functionAgedHEXANUCLEOTIDE REPEATNeuroscience (all)MUTATIONSAmyotrophic Lateral Sclerosis3112 Neurosciences1702 Cognitive Sciencemedicine.diseaseITALSGEN ConsortiumAnswer ALS Foundation030104 developmental biologyALS Sequencing ConsortiumHuman medicine1109 Neurosciences030217 neurology & neurosurgery0301 basic medicineALS; GWAS; KIF5A; WES; WGS; axonal transport; cargo[SDV]Life Sciences [q-bio]KinesinsNeurodegenerativeGenetic analysisGenomeAMYOTROPHIC-LATERAL-SCLEROSIS3124 Neurology and psychiatryCohort StudiesPathogenesisLoss of Function MutationMissense mutation2.1 Biological and endogenous factorsAmyotrophic lateral sclerosisNYGC ALS ConsortiumGeneticsGeneral NeuroscienceALS axonal transport cargo GWAS KIF5A WES WGSMiddle AgedPhenotypeSettore MED/26 - NEUROLOGIANeurologicalProject MinE ALS Sequencing ConsortiumKinesinWESFemaleAdultBiologyGENOTYPE IMPUTATIONALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS; Adult; Aged; Aged 80 and over; Amino Acid Sequence; Amyotrophic Lateral Sclerosis; Cohort Studies; Female; Genome-Wide Association Study; Humans; Kinesin; Loss of Function Mutation; Male; Middle Aged; Young AdultNOYoung AdultRare DiseasesmedicineSLAGEN ConsortiumGene030304 developmental biologyClinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) ConsortiumNeurology & NeurosurgeryHuman GenomeNeurosciencesAXONAL-TRANSPORTBrain DisordersALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS;Family memberDNA-DAMAGEMOTOR-NEURONS3111 BiomedicineCohort StudieALSGenomic Translation for ALS Care (GTAC) ConsortiumWGSAmyotrophic Lateral SclerosiGenome-Wide Association StudyALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS; Neuroscience (all)
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Longitudinal 18F-FDG PET and MRI Reveal Evolving Imaging Pathology That Corresponds to Disease Progression in a Patient With ALS-FTD

2019

Single time point positron emission tomography (PET) studies of patients with amyotrophic lateral sclerosis and frontotemporal dementia (ALS-FTD), have demonstrated hypometabolism or hypermetabolism in certain brain regions. To determine whether longitudinal (at baseline and 20.4 months later) PET and magnetic resonance imaging (MRI) reveal evolving brain imaging pathology corresponding to clinical progression in a patient with ALS-FTD, cerebral glucose metabolic rate, cortical thickness (CT) and cortical area (CA) were obtained and symmetric percent change (SPC) for each calculated. The patient had worsening symptoms and signs of bulbar-onset upper motor neuron-predominant ALS as well as l…

Pathologymedicine.medical_specialtyCase ReportLateralization of brain functionlcsh:RC346-429030218 nuclear medicine & medical imagingPrimary progressive aphasia03 medical and health sciences0302 clinical medicineNeuroimagingAphasiaALS-FTDMedicineAmyotrophic lateral sclerosislcsh:Neurology. Diseases of the nervous systemcortical areamedicine.diagnostic_testbusiness.industryMagnetic resonance imagingcortical thicknessmedicine.diseaseaphasiaPETNeurologyNeurology (clinical)medicine.symptombusinessNeurocognitive030217 neurology & neurosurgeryFrontotemporal dementiaMRIFrontiers in Neurology
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A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis

2009

The cause of sporadic amyotrophic lateral sclerosis (ALS) is largely unknown, but genetic factors are thought to play a significant role in determining susceptibility to motor neuron degeneration. To identify genetic variants altering risk of ALS, we undertook a two-stage genome-wide association study (GWAS): we followed our initial GWAS of 545 066 SNPs in 553 individuals with ALS and 2338 controls by testing the 7600 most associated SNPs from the first stage in three independent cohorts consisting of 2160 cases and 3008 controls. None of the SNPs selected for replication exceeded the Bonferroni threshold for significance. The two most significantly associated SNPs, rs2708909 and rs2708851 …

amyotrophic lateral sclerosisLinkage disequilibriumPopulationamyotrophic lateral sclerosis; genetics; GWASingle-nucleotide polymorphismGenome-wide association studyBiologyGWAPolymorphism Single Nucleotide03 medical and health sciences0302 clinical medicineGenotypeGeneticsmedicineHumansPolymorphismAmyotrophic lateral sclerosiseducationMolecular BiologyGenetics (clinical)030304 developmental biologyGenetics0303 health scienceseducation.field_of_studyGenomeSLA wide genome screeningGenome HumanAssociation Studies ArticlesCase-control studySingle NucleotideGeneral MedicineOdds ratiomedicine.diseaseSettore MED/26 - NEUROLOGIAAmyotrophic Lateral Sclerosis; genetics Case-Control Studies Genome; Human Genome-Wide Association Study Humans Polymorphism; Single NucleotideCase-Control Studies030217 neurology & neurosurgeryHumanGenome-Wide Association StudyHuman Molecular Genetics
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