Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Alfons Macaya-Ruiz"'
Autor:
Heidy, Baide-Mairena, Laura, Marti-Sánchez, Anna, Marcé-Grau, Ana, Cazurro-Gutiérrez, Angel, Sanchez-Montanez, Ignacio, Delgado, Antonio, Moreno-Galdó, Alfons, Macaya-Ruiz, Elena, García-Arumí, Belén, Pérez-Dueñas
Publikováno v:
Developmental Medicine & Child Neurology. 64:743-752
To correlate clinical, radiological, and biochemical features with genetic findings in children with bilateral basal ganglia lesions of unknown aetiology, and propose a diagnostic algorithm for early recognition.Children with basal ganglia disease we
Autor:
Amaia Lasa-Aranzasti, Ana Cazurro-Gutiérrez, Agustín Bescós, Victoria González, Lourdes Ispierto, Manel Tardáguila, Irene Valenzuela, Alberto Plaja, Antonio Moreno-Galdó, Alfons Macaya-Ruiz, Belen Pérez-Dueñas
Publikováno v:
Parkinsonismrelated disorders. 103
Autor:
De Nittis P., Efthymiou S., Sarre A., Guex N., Chrast J., Putoux A., Sultan T., Raza Alvi J., Ur Rahman Z., Zafar F., Rana N., Rahman F., Anwar N., Maqbool S., Zaki M. S., Gleeson J. G., Murphy D., Galehdari H., Shariati G., Mazaheri N., Sedaghat A., Lesca G., Chatron N., Salpietro V., Christoforou M., Houlden H., Simonds W. F., Pedrazzini T., Maroofian R., Reymond A., SYNAPS STUDY GROUP: SYNAPS Study Group: Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belen Pérez-Dueñas, Jatinder S Goraya, Tipu Sultan, Jun Mine, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Mercedes Pineda-Marfa, Pierangelo Veggiotti, Michel D. Ferrari, Arn M. J. M. van den Maagdenberg, Alberto Verrotti, Giangluigi Marseglia, Salvatore Savasta, Mayte García-Silva, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Simona Portaro, Benigno Monteagudo Sanchez, Richard Boles, Savvas Papacostas, Michail Vikelis, Eleni Zamba Papanicolaou, Efthymios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Noureen Rana, Osama Atawneh, George Koutsis, Salvatore Mangano, Carmela Scuderi, Giovanna Morello, Tanya Stojkovic, Massimo Zollo, Gali Heimer, Yves A. Dauvilliers, Pasquale Striano, Issam Al-Khawaja, Fuad Al-Mutairi, Hamed Sherifa.
Publikováno v:
Dipòsit Digital de la UB
Universidad de Barcelona
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, In press, ⟨10.1136/jmedgenet-2020-107015⟩
Universidad de Barcelona
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, In press, ⟨10.1136/jmedgenet-2020-107015⟩
BackgroundPathogenic variants of GNB5 encoding the β5 subunit of the guanine nucleotide-binding protein cause IDDCA syndrome, an autosomal recessive neurodevelopmental disorder associated with cognitive disability and cardiac arrhythmia, particularl
Autor:
Marta Correa‐Vela, Joao Carvalho, Julia Ferrero‐Turrion, Ana Cazurro‐Gutiérrez, Maria Vanegas, Victoria Gonzalez, Ramiro Alvárez, Anna Marcé‐Grau, Antonio Moreno, Alfons Macaya‐Ruiz, Belén Pérez‐Dueñas
Publikováno v:
Developmental medicine and child neurologyREFERENCES. 65(2)
To evaluate early dystonic features in children and adolescents with SGCE-myoclonus-dystonia.In this cross-sectional study, 49 patients (26 females and 23 males) with SGCE-myoclonus-dystonia (aged 15y 2mo, SD 12y) with childhood-onset (2y 10mo, SD 1y
Autor:
Elisa Calì, Sheng-Jia Lin, Clarissa Rocca, Yavuz Sahin, Aisha Al Shamsi, Salima El Chehadeh, Myriam Chaabouni, Kshitij Mankad, Evangelia Galanaki, Stephanie Efthymiou, Sniya Sudhakar, Alkyoni Athanasiou-Fragkouli, Tamer Çelik, Nejat Narlı, Sebastiano Bianca, David Murphy, Francisco Martins De Carvalho Moreira, null Andrea Accogli, Cassidy Petree, Kevin Huang, Kamel Monastiri, Masoud Edizadeh, Rosaria Nardello, Marzia Ognibene, Patrizia De Marco, Martino Ruggieri, Federico Zara, Pasquale Striano, Yavuz Şahin, Lihadh Al-Gazali, Marie Therese Abi Warde, Benedicte Gerard, Giovanni Zifarelli, Christian Beetz, Sara Fortuna, Miguel Soler, Enza Maria Valente, Gaurav Varshney, Reza Maroofian, Vincenzo Salpietro, Henry Houlden, Michael G. Hannah, Enrico Bugiardini, Yamna Kriouile, Mohamed El Khorassani, Mhammed Aguennouz, Stanislav Groppa, Blagovesta Marinova Karashova, Gabriella Di Rosa, Jatinder S. Goraya, Tipu Sultan, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Pierangelo Veggiotti, Alberto Verrotti, Salvatore Savasta, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Savvas Papacostas, Chiara Compagnoni, Alessandra Piccirilli, Michail Vikelis, Viorica Chelban, Rauan Kaiyrzhanov, Andrea Cortese, Roisin Sullivan, Eleni Zamba Papanicolaou, Efthymios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Noureen Rana, Osama Atawneh, Shen-Yang Lim, Farooq Shaikh, Annarita Scardamaglia, George Koutsis, Salvatore Mangano, Carmela Scuderi, Giovanna Morello, Massimo Zollo, Gali Heimer, Issam Al-Khawaja, Fuad Al-Mutairi, Fowzan S. Alkuraya, Mie Rizig, Chingiz Shashkin, Nazira Zharkynbekova, Kairgali Koneyev, Ganieva Manizha, Maksud Isrofilov, Ulviyya Guliyeva, Kamran Salayev, Samson Khachatryan, Georgia Xiromerisiou, Cleanthe Spanaki, Arianna Tucci, Chiara Fiorillo, Federico Rissotto, Francina Munell, Antonella Gagliano, Farida Jan, Roberto Chimenz, Eloisa Gitto, Caterina Cuppari, Carmelo Romeo, Francesca Magrinelli, Neerja Gupta, Madhulika Kabra, Hanene Benrhouma, Meriem Tazir, Luca Zagaroli, Claudia Caloisi, Cecilia Fabiano, Gabriella Bottone, Giovanni Farello, Sandra Di Fabio, Makram Obeid, Sophia Bakhtadze, Nebal W. Saadi, Maha S. Zaki, Chahnez C. Triki, Majdi Kara, Vincenzo Belcastro, Nicola Specchio, Ehsan G. Karimiani, Ahmed M. Salih, Luca A. Ramenghi, Emanuele David, Riccardo Curró, Maria Laura Iezzi, Giulia Iapadre, Giuliana Nanni, Giovanna Scorrano, Maria F. Fiorile, Francesco Brancati, Giovanna Di Falco, Luana Mandarà, Giuseppe Barrano, Maurizio Elia, Gaetano Terrone, Francesca F. Operto, Mariella Valenzise, Ylenia Della Rocca, Francesca Zazzeroni, Edoardo Alesse, Filippo Manti, Serena Galosi, Francesca Nardecchia, Vincenzo Leuzzi, Erica Pironti, Greta Amore, Giorgia Ceravolo, Faisal Zafar, Ehsan Ullah, Erum Afzal, Iram Javed, Fatima Rahman, Muhammad Mehboob Ahmed, Pasquale Parisi, Paola Borgia, Giuseppe D. Mangano, Francesco Chiarelli, Queen Square Genomics
Purpose: The mediator (MED) multisubunit-complex modulates the activity of the transcriptional machinery, and genetic defects in different MED subunits (17, 20, 27) have been implicated in neurologic diseases. In this study, we identified a recurrent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3ad32ae43b493e4ed17edb86a09aa52
https://hdl.handle.net/20.500.12445/2759
https://hdl.handle.net/20.500.12445/2759
Autor:
Fernando Paredes-Carmona, Miquel Raspall-Chaure, Alfons Macaya-Ruiz, Júlia Sala Coromina, Núria Visa-Reñé
Publikováno v:
Epilepsybehavior : EB. 107
Objectives The primary objective of the study was to analyze the efficacy of brivaracetam (BRV) in pediatric patients 12 months after starting treatment. The secondary objective was to establish safety 3, 6, and 12 months after starting treatment. Ma
Autor:
Alfons Macaya-Ruiz, Ludwig Gortner, Martin Poryo, Daniel Ebrahimi-Fakhari, Marina Flotats-Bastardas, Michael Zemlin, Sascha Meyer
Publikováno v:
Neuropediatrics. 49(3)
Tuberous sclerosis complex (TSC) is a genetic disease with a significant morbidity and mortality. We conducted a retrospective analysis of two cohorts (Vall d'Hebron University Hospital [HVH], Barcelona, Spain, 1982–2015, and at Saarland University
Publikováno v:
Clinical Neurophysiology. 129:e88
Introduction Acute bilateral striatal necrosis (ABSN) is a clinicoradiological syndrome with different causes: genetic (mostly, inborn errors of metabolism) and acquired. Among these, parainfectious forms are especially relevant, since they may be co
Autor:
Alfons Macaya-Ruiz, Hector Boix-Alonso, Ana Felipe-Rucian, Ignacio Rubio-Agusti, Monica Vicente-Rasoamalala
Publikováno v:
Clinical Neurophysiology. 129:e74
Introduction Neonatal hypoglycemia is a relatively common event with a variable clinical presentation, ranging from asymptomatic forms to refractory status epilepticus. It may present as a primary problem or appear in the context of other conditions,
Publikováno v:
European Journal of Paediatric Neurology. 21:e140