Pilar Jerez-Alvarez

UCL Queen Square Institute Of Neurology
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 20 publications

Long-read sequencing identifies FGF14 repeat expansions in Parkinson's disease.

Long-read sequencing identifies FGF14 repeat expansions in Parkinson's disease.

Journal: Brain : a journal of neurology

Published: August 12, 2025

Long-read sequencing identifies FGF14 repeat expansions in Parkinson's disease.

Long-read sequencing identifies FGF14 repeat expansions in Parkinson's disease.

Journal: Brain : a journal of neurology

Published: August 12, 2025

Identification of GGC Repeat Expansions in ZFHX3 among Chilean Movement Disorder Patients.

Identification of GGC Repeat Expansions in ZFHX3 among Chilean Movement Disorder Patients.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: March 17, 2025

Large-scale genetic characterization of Parkinson's disease in the African and African admixed populations.

Large-scale genetic characterization of Parkinson's disease in the African and African admixed populations.

Journal: Brain : a journal of neurology

Published: January 21, 2025

Large-scale genetic characterization of Parkinson's disease in the African and African admixed populations.

Large-scale genetic characterization of Parkinson's disease in the African and African admixed populations.

Journal: Brain : a journal of neurology

Published: January 21, 2025

A CGG Repeat Expansion in CSNK1E Associated with Progressive Myoclonic Epilepsy with Incomplete Penetrance.

A CGG Repeat Expansion in CSNK1E Associated with Progressive Myoclonic Epilepsy with Incomplete Penetrance.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: December 19, 2024

The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral Founder.

The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral Founder.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: August 07, 2024

African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1.

African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1.

Journal: Nature structural & molecular biology

Published: March 25, 2024

The Role of Structural Variants in the Genetic Architecture of Parkinson's Disease.

The Role of Structural Variants in the Genetic Architecture of Parkinson's Disease.

Journal: International journal of molecular sciences

Published: March 20, 2024

Characterizing a complex CT-rich haplotype in intron 4 of SNCA using large-scale targeted amplicon long-read sequencing.

Characterizing a complex CT-rich haplotype in intron 4 of SNCA using large-scale targeted amplicon long-read sequencing.

Journal: NPJ Parkinson's disease

Published: January 29, 2024

The GIAB genomic stratifications resource for human reference genomes.

The GIAB genomic stratifications resource for human reference genomes.

Journal: Nature communications

Published: November 07, 2023

Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4.

Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: November 03, 2023

Showing 1-12 of 20

Last Updated: 09/26/2026