Alfons Macaya

Barcelona, CT, Spain

Last Updated: 09/26/2026

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Found 121 publications

Correction: Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy.

Correction: Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy.

Journal: Frontiers in cell and developmental biology
Published: March 06, 2026

The Movement Disorder Spectrum of ATP1A3-Related Disorders: Cross-Sectional Analysis and Video Archive of 88 Patients.

The Movement Disorder Spectrum of ATP1A3-Related Disorders: Cross-Sectional Analysis and Video Archive of 88 Patients.

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: October 18, 2025

Genotype-phenotype correlations and putative modifier genes in SYNGAP1 Encephalopathy.

Genotype-phenotype correlations and putative modifier genes in SYNGAP1 Encephalopathy.

Journal: Neurobiology of disease
Published: September 15, 2025

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

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

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

Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy.

Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy.

Journal: Frontiers in cell and developmental biology
Published: October 13, 2023

Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia.

Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia.

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: October 01, 2023

EPITRANS. Quality assessment of the epilepsy transition process.

EPITRANS. Quality assessment of the epilepsy transition process.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: August 21, 2023

Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND).

Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND).

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: July 27, 2023

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

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
Showing 1-12 of 121

Last Updated: 09/26/2026