Alfons Macaya

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 11

Top Venues

Movement disorders : official journal of the Movement Disorder Society

Cephalalgia : an international journal of headache

Epilepsia

Human mutation

Vall d'Hebron Institut de Recerca

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Vall d'Hebron Institut de Recerca

Spain

Principal Researcher :: Neurologia infantil

Publications

Rauan Kaiyrzhanov, Juan Dario Ortigoza-Escobar, Brett W Stringer, Manizha Ganieva, Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Alfons Macaya, Andreas Laner, Enas Onbool, Randa Al-Shammari, Mohammed Al-Owain, Nicolas Deconinck, Catheline Vilain, Pauline Dontaine, Eleanor Self, Rabia Akram, Ghulam Hussain, Shahid Mahmood Baig, Javed Iqbal, Vincenzo Salpietro, Maedeh Neshatdoust, Mahboubeh Kasiri, Gozde Yesil Sayın, Turkan Uygur, Karen Pysden, Ian R Berry, Cesar Augusto Alves, Jean Giacomotto, Henry Houlden, Reza Maroofian
Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia. Movement disorders : official journal of the Movement Disorder Society 39 (6) (2024)
Rauan Kaiyrzhanov, Juan Dario Ortigoza-Escobar, Brett W Stringer, Manizha Ganieva, Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Alfons Macaya, Andreas Laner, Enas Onbool, Randa Al-Shammari, Mohammed Al-Owain, Nicolas Deconinck, Catheline Vilain, Pauline Dontaine, Eleanor Self, Rabia Akram, Ghulam Hussain, Shahid Mahmood Baig, Javed Iqbal, Vincenzo Salpietro, Maedeh Neshatdoust, Mahboubeh Kasiri, Gozde Yesil Sayın, Turkan Uygur, Karen Pysden, Ian R Berry, Cesar Augusto Alves, Jean Giacomotto, Henry Houlden, Reza Maroofian
Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia. Movement disorders : official journal of the Movement Disorder Society 39 (6) (2024)
Rauan Kaiyrzhanov, Juan Dario Ortigoza-Escobar, Brett W Stringer, Manizha Ganieva, Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Alfons Macaya, Andreas Laner, Enas Onbool, Randa Al-Shammari, Mohammed Al-Owain, Nicolas Deconinck, Catheline Vilain, Pauline Dontaine, Eleanor Self, Rabia Akram, Ghulam Hussain, Shahid Mahmood Baig, Javed Iqbal, Vincenzo Salpietro, Maedeh Neshatdoust, Mahboubeh Kasiri, Gozde Yesil Sayın, Turkan Uygur, Karen Pysden, Ian R Berry, Cesar Augusto Alves, Jean Giacomotto, Henry Houlden, Reza Maroofian
Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia. Movement disorders : official journal of the Movement Disorder Society 39 (6) (2024)
Rauan Kaiyrzhanov, Juan Dario Ortigoza-Escobar, Brett W Stringer, Manizha Ganieva, Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Alfons Macaya, Andreas Laner, Enas Onbool, Randa Al-Shammari, Mohammed Al-Owain, Nicolas Deconinck, Catheline Vilain, Pauline Dontaine, Eleanor Self, Rabia Akram, Ghulam Hussain, Shahid Mahmood Baig, Javed Iqbal, Vincenzo Salpietro, Maedeh Neshatdoust, Mahboubeh Kasiri, Gozde Yesil Sayın, Turkan Uygur, Karen Pysden, Ian R Berry, Cesar Augusto Alves, Jean Giacomotto, Henry Houlden, Reza Maroofian
Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia. Movement disorders : official journal of the Movement Disorder Society (2024)
Marta Vila-Pueyo, Ester Cuenca-León, Ana C Queirós, Marta Kulis, Cèlia Sintas, Bru Cormand, José Ignacio Martín-Subero, Patricia Pozo-Rosich, Noèlia Fernàndez-Castillo, Alfons Macaya
Genome-wide DNA methylation analysis in an antimigraine-treated preclinical model of cortical spreading depolarization. Cephalalgia : an international journal of headache 43 (2) (2023)
Marta Vila-Pueyo, Ester Cuenca-León, Ana C Queirós, Marta Kulis, Cèlia Sintas, Bru Cormand, José Ignacio Martín-Subero, Patricia Pozo-Rosich, Noèlia Fernàndez-Castillo, Alfons Macaya
Genome-wide DNA methylation analysis in an antimigraine-treated preclinical model of cortical spreading depolarization. Cephalalgia : an international journal of headache 43 (2) (2023)
Loreto Martorell, Alfons Macaya, Belen Perez-Duenas, Juan Dario Ortigoza-Escobar
Acetazolamide Improves Episodic Ataxia in a Patient with Non-Verbal Autism and Paroxysmal Dyskinesia Due To PRRT2 Biallelic Variants. Movement disorders clinical practice 9 (7) (2022)
Anna Marcé-Grau, Xabier Elorza-Vidal, Carla Pérez-Rius, Anna Ruiz, Júlia Sala-Coromina, Elisabet Gabau, Raul Estevez, Alfons Macaya
Muscarinic acetylcholine receptor M1 mutations causing neurodevelopmental disorder and epilepsy. Human mutation 42 (10) (2021)
Aintzane Urbizu, Melanie E Garrett, Karen Soldano, Oliver Drechsel, Dorothy Loth, Anna Marcé-Grau, Rebeca Gómez-Ibáñez, Maria-Antonia Poca, Stephan Ossowski, Alfons Macaya, Francis Loth, Rick Labuda, Allison Elizabeth Ashley-Koch
Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1. PloS one 16 (5) (2021)
Carolina Gomis-Pérez, Janire Urrutia, Anna Marcé-Grau, Covadonga Malo, Eduardo López-Laso, Ana Felipe-Rucián, Miquel Raspall-Chaure, Alfons Macaya, Alvaro Villarroel
Homomeric Kv7.2 current suppression is a common feature in KCNQ2 epileptic encephalopathy. Epilepsia 60 (1) (2018)
Marta Torres-Ferrús, Carme Vila-Sala, Manuel Quintana, Sara Ajanovic, Victor José Gallardo, Juan Bernardo Gómez-Galván, José Alvarez-Sabin, Alfons Macaya, Patricia Pozo-Rosich
Headache, comorbidities and lifestyle in an adolescent population (The TEENs Study). Cephalalgia : an international journal of headache 39 (1) (2018)

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Publication Activity (10 Years)

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Alfons Macaya