Anna Grau-Marce

Barcelona, CT, Spain

Last Updated: 09/26/2026

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Found 35 publications

NKX2-1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea.

NKX2-1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea.

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

Published: March 27, 2026

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM.

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM.

Journal: Annals of clinical and translational neurology

Published: September 10, 2025

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

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Journal: Nature medicine

Published: June 19, 2025

Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy.

Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy.

Journal: Brain : a journal of neurology

Published: February 21, 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

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Journal: Nature medicine

Published: May 01, 2023

De novo KCNA6 variants with attenuated KV 1.6 channel deactivation in patients with epilepsy.

De novo KCNA6 variants with attenuated KV 1.6 channel deactivation in patients with epilepsy.

Journal: Epilepsia

Published: June 01, 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

Showing 1-12 of 35

Last Updated: 09/26/2026