Vonsattel, Jean-Paul

New insights into the genetic etiology of Alzheimer’s disease and related dementias

Bellenguez, C., Küçükali, F., Jansen, I. E., Kleineidam, L., Moreno-Grau, S., Amin, N., Naj, A. C., Campos-Martin, R., Grenier-Boley, B., Andrade, V., et al. (2022) · Nature Genetics

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 2,498

The first NINDS/NIBIB consensus meeting to define neuropathological criteria for the diagnosis of chronic traumatic encephalopathy

the TBI/CTE group, McKee, A. C., Cairns, N. J., Dickson, D. W., Folkerth, R. D., Dirk Keene, C., Litvan, I., Perl, D. P., Stein, T. D., Vonsattel, J.-P., et al. (2016) · Acta Neuropathologica

Traumatic Brain Injury ResearchAlzheimer's disease research and treatments

Cited by 885

Huntingtin is a cytoplasmic protein associated with vesicles in human and rat brain neurons

DiFiglia, M., Sapp, E., Chase, K., Schwarz, C., Meloni, A., Young, C., Martin, E., Vonsattel, J.-P., Carraway, R., Reeves, S. A., et al. (1995) · Neuron

Genetic Neurodegenerative DiseasesCellular transport and secretion

Cited by 749

Inactivation of the Mouse Huntington's Disease Gene Homolog Hdh

Duyao, M. P., Auerbach, A. B., Ryan, A., Persichetti, F., Barnes, G. T., McNeil, S. M., Ge, P., Vonsattel, J.-P., Gusella, J. F., Joyner, A. L., et al. (1995) · Science

Genetic Neurodegenerative DiseasesGenetics and Neurodevelopmental Disorders

Cited by 723

Model‐guided microarray implicates the retromer complex in Alzheimer's disease

Small, S. A., Kent, K., Pierce, A., Leung, C., Kang, M. S., Okada, H., Honig, L., Vonsattel, J., & Kim, T. (2005) · Annals of Neurology

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 440

Direct quantification of CSF α-synuclein by ELISA and first cross-sectional study in patients with neurodegeneration

Mollenhauer, B., Cullen, V., Kahn, I., Krastins, B., Outeiro, T. F., Pepivani, I., Ng, J., Schulz-Schaeffer, W., Kretzschmar, H. A., McLean, P. J., et al. (2008) · Experimental Neurology

Parkinson's Disease Mechanisms and TreatmentsAlzheimer's disease research and treatments

Cited by 382

Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias

Beecham, G. W., Hamilton, K., Naj, A. C., Martin, E. R., Huentelman, M., Myers, A. J., Corneveaux, J. J., Hardy, J., Vonsattel, J.-P., Younkin, S. G., et al. (2014) · PLoS Genetics

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 343

Diagnosis of Cerebral Amyloid Angiopathy: Sensitivity and Specificity of Cortical Biopsy

Greenberg, S. M., & Vonsattel, J.-P. G. (1997) · Stroke

Intracerebral and Subarachnoid Hemorrhage ResearchCerebrovascular and genetic disorders

Cited by 312

Association of apolipoprotein E ϵ2 and vasculopathy in cerebral amyloid angiopathy

Greenberg, S. M., Vonsattel, J.-P. G., Segal, A. Z., Chiu, R. I., Clatworthy, A. E., Liao, A., Hyman, B. T., & Rebeck, G. W. (1998) · Neurology

Intracerebral and Subarachnoid Hemorrhage ResearchAlzheimer's disease research and treatments

Cited by 267

Five siRNAs Targeting Three SNPs May Provide Therapy for Three-Quarters of Huntington's Disease Patients

Pfister, E. L., Kennington, L., Straubhaar, J., Wagh, S., Liu, W., DiFiglia, M., Landwehrmeyer, B., Vonsattel, J.-P., Zamore, P. D., & Aronin, N. (2009) · Current Biology

Genetic Neurodegenerative DiseasesRNA Interference and Gene Delivery

Cited by 261

Dendrite and dendritic spine alterations in alzheimer models

Moolman, D. L., Vitolo, O. V., Vonsattel, J.-P. G., & Shelanski, M. L. (2004) · Journal of Neurocytology

Alzheimer's disease research and treatmentsNeuroscience and Neuropharmacology Research

Cited by 245

Huntington's disease (HD): the neuropathology of a multisystem neurodegenerative disorder of the human brain

Rüb, U., Seidel, K., Heinsen, H., Vonsattel, J. P., den Dunnen, W. F., & Korf, H. W. (2016) · Brain Pathology

Genetic Neurodegenerative DiseasesNeurological diseases and metabolism

Cited by 206

Biological and clinical manifestations of juvenile Huntington’s disease: A retrospective analysis

Fusilli, C., Migliore, S., Mazza, T., Consoli, F., De Luca, A., Barbagallo, G., Ciammola, A., Gatto, E. M., Cesarini, M., Etcheverry, J. L., et al. (2018) · The Lancet Neurology

Genetic Neurodegenerative DiseasesDeep Brain Stimulation and Movement Disorders

Cited by 148

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study

Pottier, C., Zhou, X., Perkerson, R. B., Baker, M., Jenkins, G. D., Serie, D. J., Ghidoni, R., Benussi, L., Binetti, G., López de Munain, A., et al. (2018) · The Lancet Neurology

Amyotrophic Lateral Sclerosis ResearchAlzheimer's disease research and treatments

Cited by 131

Elevated Levels of the Endosomal‐Lysosomal Proteinase Cathepsin D in Cerebrospinal Fluid in Alzheimer Disease

Schwagerl, A. L., Mohan, P. S., Cataldo, A. M., Vonsattel, J. P., Kowall, N. W., & Nixon, R. A. (1995) · Journal of Neurochemistry

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 107

Clinicopathological characteristics of freezing of gait in autopsy‐confirmed Parkinson's disease

Virmani, T., Moskowitz, C. B., Vonsattel, J., & Fahn, S. (2015) · Movement Disorders

Parkinson's Disease Mechanisms and TreatmentsBalance, Gait, and Falls Prevention

Cited by 56

Genome-Wide Methylation Analyses in Glioblastoma Multiforme

Lai, R. K., Chen, Y., Guan, X., Nousome, D., Sharma, C., Canoll, P., Bruce, J., Sloan, A. E., Cortes, E., Vonsattel, J.-P., et al. (2014) · PLoS ONE

Epigenetics and DNA MethylationGlioma Diagnosis and Treatment

Cited by 54

Consensus meta-analysis of genome-wide association studies for Alzheimer’s disease and related dementias

EADB, Bellenguez, C., Castillo Morales, A., Amin, N., van der Lee, S. J., Muntaner, M., Parveen, K., Küçükali, F., Grenier-Boley, B., Heikkinen, S., et al. (2026) · Nature Genetics

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 7