Ana Gutierrez-Cazurro

Barcelona, CT, Spain

Last Updated: 09/26/2026

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Found 13 publications

Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants.

Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants.

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

Published: July 30, 2025

Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci.

Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci.

Journal: European journal of human genetics : EJHG

Published: March 04, 2025

Deep Brain Stimulation in Children and Adolescents with ε-Sarcoglycan Myoclonus Dystonia Causes a Sustained Improvement in Motor Functionality and Quality of Life.

Deep Brain Stimulation in Children and Adolescents with ε-Sarcoglycan Myoclonus Dystonia Causes a Sustained Improvement in Motor Functionality and Quality of Life.

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

Published: February 03, 2025

Historia natural de la distonía mioclónica asociada a variantes de SGCE en niños y adolescentes.

Historia natural de la distonía mioclónica asociada a variantes de SGCE en niños y adolescentes.

Journal: Developmental medicine and child neurology

Published: January 31, 2025

Approach to Myoclonus Dystonia Syndrome: A European Reference Network Survey.

Approach to Myoclonus Dystonia Syndrome: A European Reference Network Survey.

Journal: Movement disorders clinical practice

Published: August 26, 2024

Natural history of SGCE-associated myoclonus dystonia in children and adolescents.

Natural history of SGCE-associated myoclonus dystonia in children and adolescents.

Journal: Developmental medicine and child neurology

Published: July 30, 2024

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS.

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS.

Journal: Nature communications

Published: January 30, 2024

Clinical and Molecular Profiling in GNAO1 Permits Phenotype-Genotype Correlation.

Clinical and Molecular Profiling in GNAO1 Permits Phenotype-Genotype Correlation.

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

Published: January 26, 2024

The Expanding Phenotypical Spectrum of WARS2-Related Disorder: Four Novel Cases with a Common Recurrent Variant.

The Expanding Phenotypical Spectrum of WARS2-Related Disorder: Four Novel Cases with a Common Recurrent Variant.

Journal: Genes

Published: March 09, 2023

16q12.2q21 deletion: A newly recognized cause of dystonia related to GNAO1 haploinsufficiency.

16q12.2q21 deletion: A newly recognized cause of dystonia related to GNAO1 haploinsufficiency.

Journal: Parkinsonism & related disorders

Published: June 05, 2022

Early recognition of SGCE-myoclonus-dystonia in children.

Early recognition of SGCE-myoclonus-dystonia in children.

Journal: Developmental medicine and child neurology

Published: November 30, 2021

Genetic diagnosis of basal ganglia disease in childhood.

Genetic diagnosis of basal ganglia disease in childhood.

Journal: Developmental medicine and child neurology

Published: March 23, 2021

Showing 1-12 of 13

Last Updated: 09/26/2026