Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Oriel Carreño"'
Autor:
Cèlia Sintas, Oriel Carreño, Noèlia Fernàndez-Castillo, Roser Corominas, Marta Vila-Pueyo, Claudio Toma, Ester Cuenca-León, Isabel Barroeta, Carles Roig, Víctor Volpini, Alfons Macaya, Bru Cormand
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-9 (2017)
Abstract Episodic ataxia is an autosomal dominant ion channel disorder characterized by episodes of imbalance and incoordination. The disease is genetically heterogeneous and is classified as episodic ataxia type 2 (EA2) when it is caused by a mutati
Externí odkaz:
https://doaj.org/article/9317232c8b7c4a298032aaa4add4d283
Autor:
Cèlia Sintas, Alfons Macaya, Oriel Carreño, Jèssica Fernández-Morales, María-Jesús Sobrido, Bru Cormand, Patricia Pozo-Rosich, Bernat Narberhaus, Pilar Cacheiro
Publikováno v:
Cephalalgia. 32:1076-1080
Background: Migraine is a prevalent neurological disorder with a complex genetic background characterized by recurrent episodes of headache. The disease is subclassified into migraine with aura (MA) and migraine without aura (MO). Many association st
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a600f49424754abf496f9a3845238644
https://doi.org/10.1177/0333102412457090
https://doi.org/10.1177/0333102412457090
Autor:
Bru Cormand, Oriel Carreño, María Teresa García-Silva, Ana Martínez de Aragón, Alfons Macaya, Oscar García-Campos
Publikováno v:
Headache: The Journal of Head and Face Pain. 51:1542-1546
We report the case of a 9-year-old girl with early-onset developmental delay, chronic ataxia and prolonged hemiplegic migraine episodes bringing about progressive deterioration. Two days into one episode, diffusion-weighted magnetic resonance imaging
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c51922a1f903b210b82ea089ab5b96d8
https://doi.org/10.1111/j.1526-4610.2011.02014.x
https://doi.org/10.1111/j.1526-4610.2011.02014.x
Autor:
Bru Cormand, Selma A. Serra, Roser Corominas, Ester Cuenca-León, Alfons Macaya, Noèlia Fernàndez-Castillo, José M. Fernández-Fernández, Artur Llobet, Oriel Carreño, Cristina Plata, Miguel A. Valverde, Francisca Rubio-Moscardo
Publikováno v:
Dipòsit Digital de la UB
Universidad de Barcelona
Universidad de Barcelona
Familial hemiplegic migraine (FHM)-causing mutations in the gene encoding the P/Q Ca 2+ channel α 1A subunit ( CACNA1A ) locate to the pore and voltage sensor regions and normally involve gain-of-channel function. We now report on a mutation identif
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62ad1b3ffbf4e253a0dd5af854f32054
https://doi.org/10.1073/pnas.0908359107
https://doi.org/10.1073/pnas.0908359107
Autor:
Mercè Pineda-Marfà, Oriel Carreño, Roser Pons, Bru Cormand, Alfons Macaya, Miquel Raspall-Chaure, Anna Marcé-Grau, Marta Vila-Pueyo, Cèlia Sintas
Publikováno v:
Journal of the neurological sciences. 344(1-2)
Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder featuring attacks of hemiplegia and other paroxysmal and non-paroxysmal manifestations leading to progressive neurological impairment. De novo mutations in ATP1A3 have be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7a45ec2e858addfe35977d76b66f829
https://pubmed.ncbi.nlm.nih.gov/24996492
https://pubmed.ncbi.nlm.nih.gov/24996492
Autor:
Oriel, Carreño, Roser, Corominas, Selma Angèlica, Serra, Cèlia, Sintas, Noèlia, Fernández-Castillo, Marta, Vila-Pueyo, Claudio, Toma, Gemma G, Gené, Roser, Pons, Miguel, Llaneza, María-Jesús, Sobrido, Daniel, Grinberg, Miguel Ángel, Valverde, José Manuel, Fernández-Fernández, Alfons, Macaya, Bru, Cormand
Publikováno v:
Molecular Genetics & Genomic Medicine
Hemiplegic migraine (HM) is a rare and severe subtype of autosomal dominant migraine, characterized by a complex aura including some degree of motor weakness. Mutations in four genes (CACNA1A, ATP1A2, SCN1A and PRRT2) have been detected in familial a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7c48b25bc93d12847ea1f92e0bf6cb71
https://pubmed.ncbi.nlm.nih.gov/24498617
https://pubmed.ncbi.nlm.nih.gov/24498617
Autor:
Oriel, Carreño, María Teresa, García-Silva, Óscar, García-Campos, Ana, Martínez-de Aragón, Bru, Cormand, Alfons, Macaya
Publikováno v:
Headache. 51(10)
We report the case of a 9-year-old girl with early-onset developmental delay, chronic ataxia and prolonged hemiplegic migraine episodes bringing about progressive deterioration. Two days into one episode, diffusion-weighted magnetic resonance imaging
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bfc5bffbbcde383be15d95f0a1bb7ee1
https://pubmed.ncbi.nlm.nih.gov/22082423
https://pubmed.ncbi.nlm.nih.gov/22082423
Autor:
María-Jesús Sobrido, José M. Fernández-Fernández, Bru Cormand, Montserrat Camiña, Alfons Macaya, Roser Corominas, Oriel Carreño, Jèssica Fernández-Morales, Patricia Pozo-Rosich
Publikováno v:
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. (1)
The transient receptor potential (TRP) superfamily of non-selective cationic channels are involved in several processes plausibly relevant to migraine pathophysiology, including multimodal sensory and pain perception, central and peripheral sensitiza
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6af77f20a1347b32a77bf6bd65bae21
https://pubmed.ncbi.nlm.nih.gov/22162417
https://pubmed.ncbi.nlm.nih.gov/22162417
Autor:
José M. Fernández-Fernández, Maya R. Vilà, M Llaneza, Miguel A. Valverde, Roser Pons, Selma A. Serra, María-Jesús Sobrido, Daniel Grinberg, Cèlia Sintas, Bru Cormand, Oriel Carreño, Noèlia Fernàndez-Castillo, Claudio Toma, Roser Corominas, Alfons Macaya
Publikováno v:
The Journal of Headache and Pain
Europe PubMed Central
Europe PubMed Central
Hemiplegic migraine (HM) is a rare and severe subtype of autosomal dominant migraine, characterized by a complex aura including some degree of motor weakness. Mutations in three genes (CACNA1A, ATP1A2 and SCN1A) have been detected in familial and in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3646e72199a2b01b2eed95e53fe56e54
http://europepmc.org/articles/PMC3620192
http://europepmc.org/articles/PMC3620192