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Alfons Macaya
Alfons Macaya
Hospital Universitari Vall d'Hebron
Zweryfikowany adres z vhebron.net - Strona główna
Tytuł
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Analysis of shared heritability in common disorders of the brain
Brainstorm Consortium, V Anttila, B Bulik-Sullivan, HK Finucane, ...
Science 360 (6395), eaap8757, 2018
15572018
Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine
P Gormley, V Anttila, BS Winsvold, P Palta, T Esko, TH Pers, KH Farh, ...
Nature genetics 48 (8), 856-866, 2016
7902016
Herpes simplex virus encephalitis is a trigger of brain autoimmunity
T Armangue, F Leypoldt, I Málaga, M Raspall‐Chaure, I Marti, C Nichter, ...
Annals of neurology 75 (2), 317-323, 2014
5082014
Genome-wide association analysis identifies susceptibility loci for migraine without aura
T Freilinger, V Anttila, B De Vries, R Malik, M Kallela, GM Terwindt, ...
Nature genetics 44 (7), 777-782, 2012
4312012
The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome
FM Santorelli, S Shanske, A Macaya, DC DeVivo, S DiMauro
Annals of Neurology: Official Journal of the American Neurological …, 1993
3101993
TuberOus SClerosis registry to increase disease Awareness (TOSCA)–baseline data on 2093 patients
JC Kingswood, GB d’Augères, E Belousova, JC Ferreira, T Carter, ...
Orphanet journal of rare diseases 12, 1-13, 2017
2452017
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ...
Nature communications 10 (1), 3094, 2019
2272019
Clinical and biochemical spectrum of D‐bifunctional protein deficiency
S Ferdinandusse, S Denis, PAW Mooyer, C Dekker, M Duran, ...
Annals of neurology 59 (1), 92-104, 2006
2152006
Clinical course of sly syndrome (mucopolysaccharidosis type VII)
AM Montaño, N Lock-Hock, RD Steiner, BH Graham, M Szlago, ...
Journal of medical genetics 53 (6), 403-418, 2016
1972016
Epilepsy in tuberous sclerosis complex: findings from the TOSCA study
R Nabbout, E Belousova, MP Benedik, T Carter, V Cottin, P Curatolo, ...
Epilepsia open 4 (1), 73-84, 2019
1922019
Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor
S Mardy, Y Miura, F Endo, I Matsuda, L Sztriha, P Frossard, A Moosa, ...
The American Journal of Human Genetics 64 (6), 1570-1579, 1999
1901999
Identification of necrotic cell death by the TUNEL assay in the hypoxic-ischemic neonatal rat brain
C de Torres, F Munell, I Ferrer, J Reventós, A Macaya
Neuroscience letters 230 (1), 1-4, 1997
1801997
Evidence of nuclear DNA fragmentation following hypoxia‐ischemia in the infant rat brain, and transient forebrain ischemia in the adult gerbil
I Ferrer, A Tortosa, A Macaya, A Sierra, D Moreno, F Munell, R Blanco, ...
Brain pathology 4 (2), 115-122, 1994
1681994
Apoptosis in substantia nigra following developmental striatal excitotoxic injury.
A Macaya, F Munell, RM Gubits, RE Burke
Proceedings of the National Academy of Sciences 91 (17), 8117-8121, 1994
1641994
TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study
PJ De Vries, E Belousova, MP Benedik, T Carter, V Cottin, P Curatolo, ...
Orphanet journal of rare diseases 13, 1-13, 2018
1522018
Fusion of the human gene for the polyubiquitination coeffector UEV1 with Kua, a newly identified gene
TM Thomson, JJ Lozano, N Loukili, R Carrió, F Serras, B Cormand, ...
Genome research 10 (11), 1743-1756, 2000
1222000
Naturally occurring cell death in the developing cerebral cortex of the rat. Evidence of apoptosis-associated internucleosomal DNA fragmentation
I Ferrer, A Tortosa, R Blanco, F Martin, T Serrano, A Planas, A Macaya
Neuroscience letters 182 (1), 77-79, 1994
1181994
Both apoptosis and necrosis occur following intrastriatal administration of excitotoxins
I Ferrer, F Martin, T Serrano, J Reiriz, E Perez-Navarro, J Alberch, ...
Acta neuropathologica 90, 504-510, 1995
1131995
Common variant burden contributes to the familial aggregation of migraine in 1,589 families
P Gormley, MI Kurki, ME Hiekkala, K Veerapen, P Häppölä, AA Mitchell, ...
Neuron 98 (4), 743-753. e4, 2018
1072018
MRI‐based Morphometric Analysis of Posterior Cranial Fossa in the Diagnosis of Chiari Malformation Type I
A Urbizu, MA Poca, X Vidal, A Rovira, J Sahuquillo, A Macaya
Journal of neuroimaging 24 (3), 250-256, 2014
1072014
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