About
Research
Publications
2025
Association of Medication Use and 8-Year Mortality Risk in Patients With Parkinson Disease
Tuominen J, Riise T, Romanowska J, Flores-Torres M, Cortese M, Scherzer C, Bjornevik K, Igland J. Association of Medication Use and 8-Year Mortality Risk in Patients With Parkinson Disease. Neurology 2025, 105: e213783. PMID: 40644656, PMCID: PMC12264975, DOI: 10.1212/wnl.0000000000213783.Peer-Reviewed Original ResearchGenetic Analysis of the X Chromosome Associates Loci with Progression of Parkinson's Disease
Liao Y, Wu H, Wang J, Corvol J, Maple‐Grødem J, Campbell M, Elbaz A, Brice A, Schwarzschild M, Taba P, Kõks S, Beach T, Alves G, Tysnes O, Perlmutter J, Maiti B, van Hilten J, Barker R, Williams‐Gray C, Scherzer C, Liu G, Consortium I. Genetic Analysis of the X Chromosome Associates Loci with Progression of Parkinson's Disease. Movement Disorders 2025, 40: 1908-1918. PMID: 40459076, PMCID: PMC12353966, DOI: 10.1002/mds.30252.Peer-Reviewed Original ResearchAn integrative systems-biology approach defines mechanisms of Alzheimer’s disease neurodegeneration
Leventhal M, Zanella C, Kang B, Peng J, Gritsch D, Liao Z, Bukhari H, Wang T, Pao P, Danquah S, Benetatos J, Nehme R, Farhi S, Tsai L, Dong X, Scherzer C, Feany M, Fraenkel E. An integrative systems-biology approach defines mechanisms of Alzheimer’s disease neurodegeneration. Nature Communications 2025, 16: 4441. PMID: 40393985, PMCID: PMC12092734, DOI: 10.1038/s41467-025-59654-w.Peer-Reviewed Original ResearchConceptsDisease proteomicsDrosophila model of Alzheimer's diseaseAlzheimer's diseaseDisease neurodegenerationSystems-biology approachAlzheimer's disease neurodegenerationModel of Alzheimer's diseaseModify gene expressionAge-associated neurodegenerationDrosophila modelTau proteinGenetic screeningGenetic variantsGene expressionRelevant pathwaysDNA damageAmeliorate neurodegenerationDrosophilaYears of intensive investigationNeural progenitor cellsProteomicsNeurodegenerationNeuronal deathAlzheimerProgenitor cells
2024
Disease progression strikingly differs in research and real-world Parkinson’s populations
Beaulieu-Jones B, Frau F, Bozzi S, Chandross K, Peterschmitt M, Cohen C, Coulovrat C, Kumar D, Kruger M, Lipnick S, Fitzsimmons L, Kohane I, Scherzer C. Disease progression strikingly differs in research and real-world Parkinson’s populations. Npj Parkinson's Disease 2024, 10: 58. PMID: 38480700, PMCID: PMC10937726, DOI: 10.1038/s41531-024-00667-5.Peer-Reviewed Original ResearchVenglustat in GBA1-related Parkinson's disease – Authors' reply
Sardi S, authors M, Giladi N, Alcalay R, Cuer G, Gasser T, Gurevich T, Höglinger G, Marek K, PaccheE C, Schapira A, Scherzer C, Simuni T, Minini P, Peterschmi M. Venglustat in GBA1-related Parkinson's disease – Authors' reply. The Lancet Neurology 2024, 23: 137-138. PMID: 38267178, DOI: 10.1016/s1474-4422(23)00470-2.Peer-Reviewed Original Research
2023
Utilizing low‐volume PBMC samples from Alzheimer’s disease clinical research cohorts for immune cell RNA‐sequencing
Viera A, Bellier J, Runnels A, Touil H, Fitzpatrick C, Tuncali I, Greco G, Liu L, Chhatwal J, Johnson K, Scherzer C, Selkoe D, De Jager P, Sperling R, Yang H. Utilizing low‐volume PBMC samples from Alzheimer’s disease clinical research cohorts for immune cell RNA‐sequencing. Alzheimer's & Dementia 2023, 19 DOI: 10.1002/alz.082614.Peer-Reviewed Original ResearchAssociation Between Use of Any of the Drugs Prescribed in Norway and the Subsequent Risk of Parkinson Disease
Romanowska J, Bjornevik K, Cortese M, Tuominen J, Solheim M, Abolpour Mofrad A, Igland J, Scherzer C, Riise T. Association Between Use of Any of the Drugs Prescribed in Norway and the Subsequent Risk of Parkinson Disease. Neurology 2023, 101: e2068-e2077. PMID: 37816645, PMCID: PMC10663041, DOI: 10.1212/wnl.0000000000207899.Peer-Reviewed Original ResearchConceptsDrug classesRisk of PDHazard ratioPD riskFollow-upIncidence rateIncidence rate of Parkinson's diseaseRegistry-based cohort studyAssociated with PD riskRate of Parkinson's diseaseParkinson's diseaseRisk of Parkinson's diseaseCox regression modelsRenin-angiotensin systemDose-response analysisTherapeutic ChemicalRAS medicationDisease-modifying therapiesPrescription RegistryExposure definitionSystemic medicationsDrug prescribingAnatomical Therapeutic ChemicalCohort studyDiagnosis of PDCircular RNAs in the human brain are tailored to neuron identity and neuropsychiatric disease
Dong X, Bai Y, Liao Z, Gritsch D, Liu X, Wang T, Borges-Monroy R, Ehrlich A, Serrano G, Feany M, Beach T, Scherzer C. Circular RNAs in the human brain are tailored to neuron identity and neuropsychiatric disease. Nature Communications 2023, 14: 5327. PMID: 37723137, PMCID: PMC10507039, DOI: 10.1038/s41467-023-40348-0.Peer-Reviewed Original ResearchConceptsAlzheimer Disease-associated geneNon-neuronal cellsDisease-associated genesCircular RNAsNeuronal identityDisease neuropathologyAutism-associated genesParkinsonism genesHuman neuropsychiatric diseasesCell identityParkinson's disease neuropathologyGenesNeuropsychiatric diseasesRNALaser captureHuman brainIdentity of dopamineCircRNAsCellsPyramidal neuronsBrain cellsSynaptic specializationsDopamine neuronsDopamineNeuronsSafety and efficacy of venglustat in GBA1-associated Parkinson's disease: an international, multicentre, double-blind, randomised, placebo-controlled, phase 2 trial
Giladi N, Alcalay R, Cutter G, Gasser T, Gurevich T, Höglinger G, Marek K, Pacchetti C, Schapira A, Scherzer C, Simuni T, Minini P, Sardi S, Peterschmitt M. Safety and efficacy of venglustat in GBA1-associated Parkinson's disease: an international, multicentre, double-blind, randomised, placebo-controlled, phase 2 trial. The Lancet Neurology 2023, 22: 661-671. PMID: 37479372, DOI: 10.1016/s1474-4422(23)00205-3.Peer-Reviewed Original ResearchConceptsTreatment-emergent adverse eventsMovement Disorder Society-Unified Parkinson's Disease Rating ScaleDouble-blindPlacebo-controlled phase 2 studySerious treatment-emergent adverse eventsIntention-to-treat populationInteractive voice-response systemAssociated with faster disease progressionPhase 2 studyPhase 2 trialWeeks of treatmentGBA1 variantsParkinson's diseaseVoice-response systemPrimary outcome measureFaster disease progressionCombined scoreEarly-stage Parkinson's diseasePlacebo groupPlacebo-ControlledGenetic risk factorsAccumulation of glucosylceramideNo deathsSafety profileAdverse events<i>GBA</i> Variants and Parkinson’s Disease: Paving the Way for Targeted Therapy
Huh Y, Usnich T, Scherzer C, Klein C, Chung S. GBA Variants and Parkinson’s Disease: Paving the Way for Targeted Therapy. Journal Of Movement Disorders 2023, 16: 261-278. PMID: 37302978, PMCID: PMC10548077, DOI: 10.14802/jmd.23023.Peer-Reviewed Original ResearchEndoplasmic reticulum-Golgi traffickingProtein quality controlImpaired protein quality controlGenetic candidatesSphingolipid metabolismPathogenesis of PDPrecision medicinePathwayParkinson's diseaseBeta 1VariantsPD phenotypeGaucher diseasePrediction of disease progressionDisease-modifying therapiesGlucosylceramidaseTraffickingTargeted therapyTherapeutic optionsTreatment strategiesDisease progressionPhenotypeDisease prognosisHigh riskGenotypes
News
News
- November 12, 2025Source: American Parkinson Disease Association
Precision Medicine for Parkinson’s Disease: Inside Yale University’s APDA Research
- November 21, 2024
Three Yale School of Medicine-led Teams Awarded $18 Million to Advance Parkinson’s Disease Research
- November 07, 2024Source: For Humanity: The Yale Campaign
Stopping Parkinson’s—Even Before It Starts
- October 14, 2024
Precision Medicine for Parkinson’s: New Yale Center for Advanced Research
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