Search filters

List of works by Alfons Macaya

A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea

scientific article published on 2 February 2018

Analysis of shared heritability in common disorders of the brain

scientific article published on 21 June 2018

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

scientific article published on 01 October 2021

Cephalometric oropharynx and oral cavity analysis in Chiari malformation Type I: a retrospective case-control study.

scientific article published on 6 May 2016

Chiari malformation type I: a case-control association study of 58 developmental genes

scientific article

Clinical and genetic analysis in alternating hemiplegia of childhood: ten new patients from Southern Europe

scientific article published on 17 June 2014

Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families

article by Padhraig Gormley et al published September 2018 in Neuron

Genome-wide association analysis identifies susceptibility loci for migraine without aura

scientific article

Gray matter volume decrements in preterm children with periventricular leukomalacia

scientific article published in June 2011

Headache, comorbidities and lifestyle in an adolescent population (The TEENs Study).

scientific article

Homomeric Kv7.2 current suppression is a common feature in KCNQ2 epileptic encephalopathy

scientific article published on 26 November 2018

Impact of Puberty in Pediatric Migraine: A Pilot Prospective Study

scientific article published on 01 July 2020

MRI-based morphometric analysis of posterior cranial fossa in the diagnosis of chiari malformation type I.

scientific article published on 16 January 2013

Machine learning applied to neuroimaging for diagnosis of adult classic Chiari malformation: role of the basion as a key morphometric indicator.

scientific article published on 20 October 2017

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

scientific article published on 28 March 2019

Thalamic changes in a preterm sample with periventricular leukomalacia: correlation with white-matter integrity and cognitive outcome at school age.

scientific article published on 15 February 2012

[Concordance between a head circumference growth function and intellectual disability in relation with the cause of microcephaly]

scientific article published on 19 December 2014

[Epilepsy and hair alterations in a neonate]

scientific article published on 01 October 2005

Paulina is supported by:

About Paulina

Help