Search

Your search keyword '"Jean-Paul Vonsattel"' showing total 157 results

Search Constraints

Start Over You searched for: Author "Jean-Paul Vonsattel" Remove constraint Author: "Jean-Paul Vonsattel"
157 results on '"Jean-Paul Vonsattel"'

Search Results

1. The distribution and density of Huntingtin inclusions across the Huntington disease neocortex: regional correlations with Huntingtin repeat expansion independent of pathologic grade

2. Multi-omic analysis of Huntington’s disease reveals a compensatory astrocyte state

3. Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias.

4. Genome-wide methylation analyses in glioblastoma multiforme.

5. Huntington's disease CAG trinucleotide repeats in pathologically confirmed post-mortem brains

6. Differential Vulnerability of Hippocampal Subfields in Primary Age-Related Tauopathy and Chronic Traumatic Encephalopathy

8. New insights into the genetic etiology of Alzheimer's disease and related dementias

11. Cerebral Microbleeds, Cerebral Amyloid Angiopathy, and Their Relationships to Quantitative Markers of Neurodegeneration

12. Genome-wide association study and functional validation implicates JADE1 in tauopathy

13. Single nuclei RNAseq analysis of HD mouse models and human brain reveals impaired oligodendrocyte maturation and potential role for thiamine metabolism

14. The Second NINDS/NIBIB Consensus Meeting to Define Neuropathological Criteria for the Diagnosis of Chronic Traumatic Encephalopathy

15. Early‐Onset Parkinsonism Is a Manifestation of the <scp> PPP2R5D </scp> p. <scp>E200K</scp> Mutation

16. Genetic Risk Underlying Psychiatric and Cognitive Symptoms in Huntington’s Disease

17. Abstract WP127: Cerebral Microbleeds, Cerebral Amyloid Angiopathy, And Their Relationships To Quantitative Markers Of Neurodegeneration

18. Amyotrophic lateral sclerosis is over-represented in two Huntington’s disease brain bank cohorts: further evidence to support genetic pleiotropy of pathogenic HTT gene expansion

19. Wolframin is a novel regulator of tau pathology and neurodegeneration

20. Multiple System Atrophy With Predominant Striatonigral Degeneration and TAR DNA‐Binding Protein of 43 kDa Pathology: An Unusual Variant of Multiple System Atrophy

21. Genome-wide association study and functional validation implicates JADE1 in tauopathy

22. Huntington disease oligodendrocyte maturation deficits revealed by single-nucleus RNAseq are rescued by thiamine-biotin supplementation

23. Neuropathological correlation supports automated image-based differential diagnosis in parkinsonism

24. Single cell RNA sequencing of human microglia uncovers a subset that is associated with Alzheimer’s disease

25. Single cell RNA sequencing of human microglia uncovers a subset associated with Alzheimer's disease

26. Pathogenic huntingtin repeat expansions in patients with frontotemporal dementia and amyotrophic lateral sclerosis

27. Disease-related Huntingtin seeding activities in cerebrospinal fluids of Huntington's disease patients

28. Reply to 'PPP2R5D Genetic Mutations and Early Onset Parkinsonism'

29. Authors' 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'

30. Evidence for the spread of human-derived mutant huntingtin protein in mice and non-human primates

31. Patterns of CAG repeat instability in the central nervous system and periphery in Huntington's disease and in spinocerebellar ataxia type 1

32. Genetic load determines atrophy in hand cortico-striatal pathways in presymptomatic Huntington's disease

33. Clinical and neuropathological features of progressive supranuclear palsy in Leucine rich repeat kinase ( LRRK2 ) G2019S mutation carriers

34. Fulminant corticobasal degeneration: a distinct variant with predominant neuronal tau aggregates

35. Exceptionally low likelihood of Alzheimer’s dementia in APOE2 homozygotes

36. Exceptionally low likelihood of Alzheimer's dementia in APOE2 homozygotes from a 5,000-person neuropathological study

37. C9orf72 intermediate repeats are associated with corticobasal degeneration, increased C9orf72 expression and disruption of autophagy

38. Mechanisms and Disease Associations of Haplotype-Dependent Allele-Specific DNA Methylation

39. Huntington’s disease onset is determined by length of uninterrupted CAG, not encoded polyglutamine, and is modified by DNA maintenance mechanisms

40. The New York Brain Bank of Columbia University: practical highlights of 35 years of experience

41. Clinicopathological characteristics of freezing of gait in autopsy-confirmed Parkinson's disease

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

43. The New York Brain Bank of Columbia University: practical highlights of 35 years of experience

44. PARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease

45. The Complexity of Clinical Huntington's Disease: Developments in Molecular Genetics, Neuropathology and Neuroimaging Biomarkers

46. Polyglutamine expansion affects huntingtin conformation in multiple Huntington's disease models

47. Cellular density in the cerebellar molecular layer in essential tremor, spinocerebellar ataxia, and controls

48. Neuropathologic Changes of Multiple System Atrophy and Diffuse Lewy Body Disease

49. Corrigendum

50. The Complexity of Clinical Huntington’s Disease: Developments in Molecular Genetics, Neuropathology and Neuroimaging Biomarkers

Catalog

Books, media, physical & digital resources