Alfons Macaya

11PUBLICATIONS
75CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Genetically modified animalsNeurology and neuromuscular diseasesNeurogeneticsMolecular medicine
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Publications (11)

|Mar 18, 2026
The Movement Disorder Spectrum of ATP1A3-Related Disorders: Cross-Sectional Analysis and Video Archive of 88 Patients.

Katerina Bernardi, Anna Zhou, Kathryn Yang

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

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

|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

|Apr 06, 2024
Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia.

Rauan Kaiyrzhanov, Juan Darío Ortigoza-Escobar, Brett W Stringer

|Feb 09, 2023
Genome-wide DNA methylation analysis in an antimigraine-treated preclinical model of cortical spreading depolarization.

Marta Vila-Pueyo, Ester Cuenca-León, Ana C Queirós

|Jul 02, 2021
Muscarinic acetylcholine receptor M1 mutations causing neurodevelopmental disorder and epilepsy.

Anna Marcé-Grau, Xabier Elorza-Vidal, Carla Pérez-Rius

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