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Author Details

Jean-Paul G Vonsattel
1979
265
90
PMIDPaper TitleJournal TitlePublished Year
37292857RNA- and ATAC-sequencing Reveals a Unique Microglial Population Focally Depleted in Parkinson's Disease.2023
37745577Multi-OMIC analysis of Huntington disease reveals a neuroprotective astrocyte state.bioRxiv2023
37218402Patterns of TDP-43 Deposition in Brains with LRRK2 G2019S Mutations.2023
37461624Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifies <i>LRRC4C, LHX5-AS1</i> and nominates ancestry-specific loci <i>PTPRK</i> , <i>GRB14</i> , and <i>KIAA0825</i> as novel risk loci for Alzheimer's disease: the Alzheimer's Disease Genetics Consortium.medRxiv2023
36542109Reply: More than a co-incidence? Exploring the increased frequency of amyotrophic lateral sclerosis in Huntington disease.2023
36607423Histopathology of the cerebellar cortex in essential tremor and other neurodegenerative motor disorders: comparative analysis of 320 brains.2023
35228332Cerebral Microbleeds, Cerebral Amyloid Angiopathy, and Their Relationships to Quantitative Markers of Neurodegeneration.Neurology2022
35593123Clinicopathological correlates of pyramidal signs in multiple system atrophy.Annals of Clinical and Translational Neurology2022
35389045Wolframin is a novel regulator of tau pathology and neurodegeneration.Acta Neuropathol2022
35950950Characterizing Lewy Pathology in 231 Essential Tremor Brains From the Essential Tremor Centralized Brain Repository.Journal of Neuropathology and Experimental Neurology2022
35440014The distribution and density of Huntingtin inclusions across the Huntington disease neocortex: regional correlations with Huntingtin repeat expansion independent of pathologic grade.Acta neuropathologica communications2022
36543778Huntington disease oligodendrocyte maturation deficits revealed by single-nucleus RNAseq are rescued by thiamine-biotin supplementation.Nat Commun2022
34800149Amyotrophic lateral sclerosis is over-represented in two Huntington's disease brain bank cohorts: further evidence to support genetic pleiotropy of pathogenic HTT gene expansion.Acta Neuropathologica2022
35306760Correlation of plasma and neuroimaging biomarkers in Alzheimer's disease.Ann Clin Transl Neurol2022
34415653Neuropathological Findings in a Case of Parkinsonism and Developmental Delay Associated with a Monoallelic Variant in PLXNA1.Mov Disord2021
33580742Plasma p-tau181, p-tau217, and other blood-based Alzheimer's disease biomarkers in a multi-ethnic, community study.Alzheimers Dement2021
33839891Neuropathological correlation supports automated image-based differential diagnosis in parkinsonism.European Journal of Nuclear Medicine and Molecular Imaging2021
33517535Developmental malformations in Huntington disease: neuropathologic evidence of focal neuronal migration defects in a subset of adult brains.Acta Neuropathologica2021
33098324Reply to "PPP2R5D Genetic Mutations and Early Onset Parkinsonism".Ann Neurol2021
33367843Early Selective Vulnerability of the CA2 Hippocampal Subfield in Primary Age-Related Tauopathy.J Neuropathol Exp Neurol2021
34363663Tau Isoform Profile in Essential Tremor Diverges From Other Tauopathies.Journal of Neuropathology and Experimental Neurology2021
33219289Disease-related Huntingtin seeding activities in cerebrospinal fluids of Huntington's disease patients.Sci Rep2020
32422281Evidence for the spread of human-derived mutant huntingtin protein in mice and non-human primates.Neurobiology of Disease2020
32070434Single-nucleus RNA-seq identifies Huntington disease astrocyte states.Acta neuropathologica communications2020
31734038Movement disorders rounds: A case of missing pathology in a patient with LRRK2 Parkinson's disease.Parkinsonism and Related Disorders2020
31941824Cerebellar oscillations driven by synaptic pruning deficits of cerebellar climbing fibers contribute to tremor pathophysiology.Science Translational Medicine2020
32087949Genetic Risk Underlying Psychiatric and Cognitive Symptoms in Huntington's Disease.Biol Psychiatry2020
33257666Single cell RNA sequencing of human microglia uncovers a subset associated with Alzheimer's disease.Nat Commun2020
32928644Authors' replies to the comments of Koga et al. on "Movement disorders rounds: A case of missing pathology in a patient with LRRK2 Parkinson's disease".Parkinsonism and Related Disorders2020
32761094Patterns of CAG repeat instability in the central nervous system and periphery in Huntington's disease and in spinocerebellar ataxia type 1.Hum Mol Genet2020
32743835Early-Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K Mutation.Ann Neurol2020
33015235High-Frequency Palatal Tremor and Stimulus-Sensitive Leg Myoclonus with Degeneration of Inferior Olivary Nuclei in Celiac Disease.Mov Disord Clin Pract2020
31358058A soluble truncated tau species related to cognitive dysfunction and caspase-2 is elevated in the brain of Huntington's disease patients.Acta neuropathologica communications2019
31745474Multiple System Atrophy With Predominant Striatonigral Degeneration and TAR DNA-Binding Protein of 43 kDa Pathology: An Unusual Variant of Multiple System Atrophy.Movement Disorders Clinical Practice2019
30820047Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.Nat Genet2019
31081340Altered Brain Expression of Insulin and Insulin-Like Growth Factors in Frontotemporal Lobar Degeneration: Another Degenerative Disease Linked to Dysregulation of Insulin Metabolic Pathways.ASN Neuro2019
30739198Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD.Acta Neuropathol2019
31359030LATE to the PART-y.Brain2019
31317229Contextualizing the pathology in the essential tremor cerebellar cortex: a patholog-omics approach.Acta Neuropathologica2019
31327044C9orf72 intermediate repeats are associated with corticobasal degeneration, increased C9orf72 expression and disruption of autophagy.Acta Neuropathol2019
29496134The New York Brain Bank of Columbia University: practical highlights of 35 years of experience.Handbook of Clinical Neurology2018
28791574Heterotopic Purkinje Cells: a Comparative Postmortem Study of Essential Tremor and Spinocerebellar Ataxias 1, 2, 3, and 6.Cerebellum2018
30220002Banking brains: a pre-mortem "how to" guide to successful donation.Cell and Tissue Banking2018
30217936An MRI measure of degenerative and cerebrovascular pathology in Alzheimer disease.Neurology2018
30243861Biological and clinical manifestations of juvenile Huntington's disease: a retrospective analysis.Lancet Neurol2018
29724592Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.Lancet Neurol2018
29253086Reduced LRRK2 in association with retromer dysfunction in post-mortem brain tissue from LRRK2 mutation carriers.Brain2018
29119599Clinical and neuropathological features of progressive supranuclear palsy in Leucine rich repeat kinase (LRRK2) G2019S mutation carriers.Movement Disorders2018
29372062Inferior Olivary nucleus degeneration does not lessen tremor in essential tremor.Cerebellum and Ataxias2018
29797744Genetic load determines atrophy in hand cortico-striatal pathways in presymptomatic Huntington's disease.Hum Brain Mapp2018
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