Belen Duenas-Perez

Madrid, MD, Spain

Last Updated: 09/26/2026

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Found 101 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

Reply to: "Unravelling the Complexity of VPS16 Splicing: Clinical Implications and Unresolved Questions".

Reply to: "Unravelling the Complexity of VPS16 Splicing: Clinical Implications and Unresolved Questions".

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: January 13, 2026

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

A Case of Hyperinsulinemic Hypoglycaemia Associated with Atypical Fanconi Renal Tubulopathy Syndrome Caused by an HNF4A Variant.

A Case of Hyperinsulinemic Hypoglycaemia Associated with Atypical Fanconi Renal Tubulopathy Syndrome Caused by an HNF4A Variant.

Journal: Case reports in nephrology and dialysis
Published: July 09, 2025

Efficacy of Deep Brain Stimulation for the Treatment of Monogenic Dystonia Symptoms: A Systematic Review.

Efficacy of Deep Brain Stimulation for the Treatment of Monogenic Dystonia Symptoms: A Systematic Review.

Journal: European journal of neurology
Published: July 07, 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

IAPRD new consensus classification of myoclonus.

IAPRD new consensus classification of myoclonus.

Journal: Parkinsonism & related disorders
Published: October 08, 2024

Development and Preliminary Validation of a Parkinsonism-Dystonia Scale for Infants and Young Children.

Development and Preliminary Validation of a Parkinsonism-Dystonia Scale for Infants and Young Children.

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: September 16, 2024

Response to Mortimer et al. "Clinical and molecular profiling in GNAO1 permits phenotype-genotype correlation".

Response to Mortimer et al. "Clinical and molecular profiling in GNAO1 permits phenotype-genotype correlation".

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: August 29, 2024

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
Showing 1-12 of 101

Last Updated: 09/26/2026