Active: Progressive supranuclear palsy Clear all

GWAS 2025-05-16

A Spanish-Portuguese GWAS of progressive supranuclear palsy reveals a novel risk locus in NFASC.

García-González P, Rodrigo Lara H et al.

Eur J Hum Genet

Progressive supranuclear palsy (PSP) is a rare 4-repeat tauopathy that causes behavioural, movement ...

Progressive supranuclear palsy

3909

Participants

N/A

Studies

Details PubMed

GWAS 2024-09-09

Genetic, transcriptomic, histological, and biochemical analysis of progressive supranuclear palsy implicates glial activation and novel risk genes.

Farrell K, Humphrey J et al.

Nat Commun

Progressive supranuclear palsy (PSP), a rare Parkinsonian disorder, is characterized by problems wit...

Progressive supranuclear palsy

8363

Participants

N/A

Studies

Details PubMed

GWAS 2021-02-26

Latent trait modeling of tau neuropathology in progressive supranuclear palsy.

Kouri N, Murray ME et al.

Acta Neuropathol

Progressive supranuclear palsy (PSP) is the second most common neurodegenerative Parkinsonian disord...

Progressive supranuclear palsy

Replicated

882

Participants

N/A

Studies

Details PubMed

GWAS 2020-12-17

Genetic determinants of survival in progressive supranuclear palsy: a genome-wide association study.

Jabbari E, Koga S et al.

Lancet Neurol

The genetic basis of variation in the progression of primary tauopathies has not been determined. We...

Survival in progressive supranuclear palsy

Replicated

1416

Participants

N/A

Studies

Details PubMed

GWAS 2019-05-06

Genome-wide survey of copy number variants finds MAPT duplications in progressive supranuclear palsy.

Chen Z, Chen JA et al.

Mov Disord

Progressive supranuclear palsy is a neurodegenerative tauopathy manifesting clinically as a progress...

Progressive supranuclear palsy

Replicated

9692

Participants

N/A

Studies

Details PubMed

GWAS 2018-08-08

Joint genome-wide association study of progressive supranuclear palsy identifies novel susceptibility loci and genetic correlation to neurodegenerative diseases.

Chen JA, Chen Z et al.

Mol Neurodegener

Progressive supranuclear palsy (PSP) is a rare neurodegenerative disease for which the genetic contr...

Progressive supranuclear palsy

12308

Participants

N/A

Studies

Details PubMed

GWAS 2018-07-31

Variation at the TRIM11 locus modifies Progressive Supranuclear Palsy phenotype.

Jabbari E, Woodside J et al.

Ann Neurol

Objective: The basis for clinical variation related to underlying progressive supranuclear palsy (PS...

Non-Richardson's syndrome vs Richardson's syndrome in progressive supranuclear palsy

497

Participants

N/A

Studies

Details PubMed

GWAS 2015-06-16

Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy.

Kouri N, Ross OA et al.

Nat Commun

Corticobasal degeneration (CBD) is a neurodegenerative disorder affecting movement and cognition, de...

Corticobasal degeneration

Replicated

3987

Participants

N/A

Studies

Details PubMed

GWAS 2011-06-19

Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.

Höglinger GU, Melhem NM et al.

Nat Genet

Progressive supranuclear palsy (PSP) is a movement disorder with prominent tau neuropathology. Brain...

Progressive supranuclear palsy

Replicated

9012

Participants

N/A

Studies

Details PubMed

GWAS 2007-03-08

Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms.

Melquist S, Craig DW et al.

Am J Hum Genet

To date, only the H1 MAPT haplotype has been consistently associated with risk of developing the neu...

Progressive supranuclear palsy

Replicated

1236

Participants

N/A

Studies

Details PubMed

Title

Author

Journal

Disease/Trait

Date

Actions

A Spanish-Portuguese GWAS of progressive supranuclear palsy reveals a novel risk locus in NFASC.

García-González P, Rodrigo Lara H et al.

Eur J Hum Genet

Progressive supranuclear palsy

2025-05-16

Genetic, transcriptomic, histological, and biochemical analysis of progressive supranuclear palsy implicates glial activation and novel risk genes.

Farrell K, Humphrey J et al.

Nat Commun

Progressive supranuclear palsy

2024-09-09

Latent trait modeling of tau neuropathology in progressive supranuclear palsy.

Kouri N, Murray ME et al.

Acta Neuropathol

Progressive supranuclear palsy

2021-02-26

Genetic determinants of survival in progressive supranuclear palsy: a genome-wide association study.

Jabbari E, Koga S et al.

Lancet Neurol

Survival in progressive supranuclear palsy

2020-12-17

Genome-wide survey of copy number variants finds MAPT duplications in progressive supranuclear palsy.

Chen Z, Chen JA et al.

Mov Disord

Progressive supranuclear palsy

2019-05-06

Joint genome-wide association study of progressive supranuclear palsy identifies novel susceptibility loci and genetic correlation to neurodegenerative diseases.

Chen JA, Chen Z et al.

Mol Neurodegener

Progressive supranuclear palsy

2018-08-08

Variation at the TRIM11 locus modifies Progressive Supranuclear Palsy phenotype.

Jabbari E, Woodside J et al.

Ann Neurol

Non-Richardson's syndrome vs Richardson's syndrome in progressive supranuclear palsy

2018-07-31

Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy.

Kouri N, Ross OA et al.

Nat Commun

Corticobasal degeneration

2015-06-16

Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.

Höglinger GU, Melhem NM et al.

Nat Genet

Progressive supranuclear palsy

2011-06-19

Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms.

Melquist S, Craig DW et al.

Am J Hum Genet

Progressive supranuclear palsy

2007-03-08