Zobrazeno 1 - 10
of 24
pro vyhledávání: '"María Eugenia Yoldi"'
Autor:
Jessica Expósito-Escudero, Cristina Jou, J. Corbera, Daniel Cuadras, Obdulia Moya, Julita Medina, Daniel Natera-de Benito, Veronica Saez, Jaume Colomer, Lidia Gonzalez-Quereda, Edna Julieth Bobadilla-Quesada, María Eugenia Yoldi, Cecilia Jimenez-Mallebrera, Pia Gallano, Carlos Ortez, Laura Carrera-García, Andrés Nascimento, A. Codina
Publikováno v:
NEUROMUSCULAR DISORDERS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
r-IIB SANT PAU: Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Institut dInvestigació Biomèdica Sant Pau (IIB Sant Pau)
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
r-IIB SANT PAU: Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Institut dInvestigació Biomèdica Sant Pau (IIB Sant Pau)
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
GMPPB mutations cause congenital myasthenic syndromes (CMS) overlapping with muscular dystrophy. Treatment with pyridostigmine has been reported to be effective in those patients. Nevertheless, results of functional motor assessments to determine its
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d00ad6d5fbbf5ed1276d00e253cf71d
https://doi.org/10.1016/j.nmd.2020.07.009
https://doi.org/10.1016/j.nmd.2020.07.009
Autor:
Agatha, Schlüter, Agustí, Rodríguez-Palmero, Edgard, Verdura, Valentina, Vélez-Santamaría, Montserrat, Ruiz, Stéphane, Fourcade, Laura, Planas-Serra, Juan José, Martínez, Cristina, Guilera, Marisa, Girós, Rafael, Artuch, María Eugenia, Yoldi, Mar, O'Callaghan, Angels, García-Cazorla, Judith, Armstrong, Itxaso, Marti, Elisabet, Mondragón Rezola, Claire, Redin, Jean Louis, Mandel, David, Conejo, Concepción, Sierra-Córcoles, Sergi, Beltrán, Marta, Gut, Elida, Vázquez, Mireia, Del Toro, Mónica, Troncoso, Luis A, Pérez-Jurado, Luis G, Gutiérrez-Solana, Adolfo, López de Munain, Carlos, Casasnovas, Sergio, Aguilera-Albesa, Alfons, Macaya, Aurora, Pujol, Juan Francisco, V Azquez
Publikováno v:
Neurology
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Dipòsit Digital de la UB
Universidad de Barcelona
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Dipòsit Digital de la UB
Universidad de Barcelona
Background and ObjectivesGenetic white matter disorders (GWMD) are of heterogeneous origin, with >100 causal genes identified to date. Classic targeted approaches achieve a molecular diagnosis in only half of all patients. We aimed to determine the c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a37b98336a0ef5fb99de2cc583fce53
https://pubmed.ncbi.nlm.nih.gov/35012964
https://pubmed.ncbi.nlm.nih.gov/35012964
Autor:
Teodoro Durá-Travé, Fidel Gallinas-Victoriano, María Malumbres-Chacón, Paula Moreno-González, María Eugenia Yoldi-Petri, Sergio Aguilera-Albesa
Publikováno v:
Epilepsy Research. 139:80-84
The aim of this study is to evaluate if valproate (VPA) and levetiracetam (LEV) as monotherapy are associated with vitamin D deficiency among children with epilepsy.A cross-sectional clinical (seizure types, aetiology of epilepsy, dosage, drug levels
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de8bb841c052bbfe743c78e2a47267a8
https://doi.org/10.1016/j.eplepsyres.2017.11.013
https://doi.org/10.1016/j.eplepsyres.2017.11.013
Autor:
Iñaki García de Gurtubay, María Eugenia Yoldi-Petri, Sergio Aguilera-Albesa, Gurutzi Azcona-Ganuza, Arantxa Mosquera-Gorostidi
Publikováno v:
Pediatric neurology. 99
Introduction Reflex bathing seizures are described during the course of bathing in water near body temperature. These seizures differ from other epilepsies characterized by bathing-induced seizures such as hot water epilepsy, but there are few well-d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d267e73e151afb44e67bda112456fd56
https://pubmed.ncbi.nlm.nih.gov/31911025
https://pubmed.ncbi.nlm.nih.gov/31911025
Akademický článek
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Autor:
Sergio Aguilera-Albesa, Fidel Gallinas-Victoriano, María Eugenia Yoldi-Petri, A. Sagastibelza-Zabaleta, Teodoro Durá-Travé, J. Esparza-Estaún
Publikováno v:
European Journal of Neurology. 19:1053-1059
Background and purpose: The aim of this study is to analyze the proportional distribution of epilepsy and epileptic syndromes in children and to describe the magnetic resonance imaging (MRI) abnormalities found in these patients. Methods: Data from 4
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9a4ca3ba15f291a88331a435d7eaced6
https://doi.org/10.1111/j.1468-1331.2011.03640.x
https://doi.org/10.1111/j.1468-1331.2011.03640.x
Autor:
María Eugenia Yoldi-Petri, Teodoro Durá-Travé, Fidel Gallinas-Victoriano, T. Molins-Castiella
Publikováno v:
European Journal of Neurology. 18:273-278
Background: The aim of this study was to analyze the epidemiologic, clinical, and evolutional characteristics in patients who presented convulsions with mild gastroenteritis (CwG) to facilitate the diagnosis in daily clinical practice. Methods: Twent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73e61df9a06d390adeaa37338a7a3574
https://doi.org/10.1111/j.1468-1331.2010.03120.x
https://doi.org/10.1111/j.1468-1331.2010.03120.x
Publikováno v:
Journal of Child Neurology. 23:878-882
All incident cases of children living in Navarre, Spain, younger than 15 years of age with newly diagnosed epilepsy (2002-2005) were registered in a prospective study, with epidemiologic and clinical data and complementary study results collected. Ba
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45d35d0d1a36971446bcd1c34218d575
https://doi.org/10.1177/0883073808314898
https://doi.org/10.1177/0883073808314898
Publikováno v:
European Journal of Neurology. 15:336-341
The aim of this study was to analyse the epidemiological, clinical and evolutional characteristics of Panayiotopoulos syndrome (PS) in order to facilitate the diagnosis in daily clinical practice. Thirty-seven medical records of patients diagnosed wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e72ccceb512ea91a2863d5b8985a8724
https://doi.org/10.1111/j.1468-1331.2008.02074.x
https://doi.org/10.1111/j.1468-1331.2008.02074.x
Publikováno v:
Journal of Child Neurology. 22:823-828
Data for children 1 month to 15 years of age at the time of diagnosis of epilepsy were recorded from the children's hospital “Virgen del Camino” in Pamplona (Spain) from January to December 2005. International League Against Epilepsy criteria wer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::190bdf79ddeedb37c457ce39a9758ca9
https://doi.org/10.1177/0883073807304207
https://doi.org/10.1177/0883073807304207