Anna Marcé-Grau

12PUBLICATIONS
97CO-AUTHORS
Neurology and neuromuscular diseasesGenetically modified animalsDevelopmental genetics (incl. sex determination)Gene and molecular therapyEpigenetics (incl. genome methylation and epigenomics)
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Publications (12)

|Jul 17, 2026
NKX2-1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea.

|Mar 05, 2026
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM.

Júlia Sala-Coromina, Anna Marcé-Grau, Barbara Masotto

|Nov 07, 2025
Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants.

Ana Westenberger, Edgard Verdura, Mandy Radefeldt

|Aug 29, 2025
Deep Brain Stimulation in Children and Adolescents with ε-Sarcoglycan Myoclonus Dystonia Causes a Sustained Improvement in Motor Functionality and Quality of Life.

Ainara Salazar-Villacorta, Ana Cazurro-Gutiérrez, Lucy Dougherty-de Miguel

|Mar 15, 2025
Approach to Myoclonus Dystonia Syndrome: A European Reference Network Survey.

María I Vanegas, Anna Marcé-Grau, Ana Cazurro-Gutiérrez

|Jan 17, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Steven Laurie, Wouter Steyaert, Elke de Boer

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Frequent Collaborators

5 joint publications

Belén Pérez-Dueñas

3 joint publications

Katja Lohmann

3 joint publications

Marta Correa-Vela

3 joint publications

Victoria González