Resultats globals: 22 registres trobats en 5.49 segons.
Articles, 17 registres trobats
Documents de recerca, 5 registres trobats
Articles 17 registres trobats  1 - 10següent  anar al registre:
1.
12 p, 884.6 KB Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization / Schlüter, Agatha (Hospital Universitari Vall d'Hebron) ; Rodríguez-Palmero, Agustí (Hospital Universitari Vall d'Hebron) ; Verdura, Edgard (Hospital Universitari Vall d'Hebron) ; Vélez-Santamaría, Valentina (Hospital Universitari Vall d'Hebron) ; Ruiz, Montserrat (Hospital Universitari Vall d'Hebron) ; Fourcade, Stéphane (Hospital Universitari Vall d'Hebron) ; Planas-Serra, Laura (Hospital Universitari Vall d'Hebron) ; Martínez, Juan José (Hospital Universitari Vall d'Hebron) ; Guilera, Cristina (Hospital Universitari Vall d'Hebron) ; Girós, Marisa (Hospital Universitari Vall d'Hebron) ; Artuch, R (Hospital Universitari Vall d'Hebron) ; Yoldi, María Eugenia (Hospital Universitari Vall d'Hebron) ; O'Callaghan, Mar (Hospital Universitari Vall d'Hebron) ; García-Cazorla, Angels (Hospital Universitari Vall d'Hebron) ; Armstrong, Judith (Hospital Universitari Vall d'Hebron) ; Marti, Itxaso (Hospital Universitari Vall d'Hebron) ; Mondragón Rezola, Elisabet (Hospital Universitari Vall d'Hebron) ; Redin, Claire (Hospital Universitari Vall d'Hebron) ; Mandel, Jean Louis (Hospital Universitari Vall d'Hebron) ; Conejo, David (Hospital Universitari Vall d'Hebron) ; Sierra-Córcoles, Concepción (Hospital Universitari Vall d'Hebron) ; Beltrán, Sergi (Hospital Universitari Vall d'Hebron) ; Gut, Marta (Hospital Universitari Vall d'Hebron) ; Vázquez, Elida (Hospital Universitari Vall d'Hebron) ; del Toro, Mireia (Hospital Universitari Vall d'Hebron) ; Troncoso, Mónica (Hospital Universitari Vall d'Hebron) ; Pérez-Jurado, Luis Alberto (Hospital Universitari Vall d'Hebron) ; Gutiérrez-Solana, Luis G. (Hospital Universitari Vall d'Hebron) ; López de Munain, Adolfo (Hospital Universitari Vall d'Hebron) ; Casasnovas, Carlos (Hospital Universitari Vall d'Hebron) ; Aguilera-Albesa, Sergio (Hospital Universitari Vall d'Hebron) ; Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron) ; Pujol, Aurora (Hospital Universitari Vall d'Hebron) ; Universitat Autònoma de Barcelona
Genetic 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. [...]
2022 - 10.1212/WNL.0000000000013278
Neurology, Vol. 98 (march 2022) , p. e912-e923  
2.
20 p, 1.3 MB Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1 / Urbizu, Aintzane (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Garrett, Melanie E. (Duke University Medical Center) ; Soldano, Karen (Duke University Medical Center) ; Drechsel, Oliver (Universitat Pompeu Fabra) ; Loth, Dorothy (University of Akron) ; Marcé-Grau, Anna (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Mestres i Soler, Olga (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Poca Pastor, María Antonia (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Ossowski, Stephan (Universitat Pompeu Fabra) ; Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Loth, Francis (University of Akron) ; Labuda, Rick (Conquer Chiari (Estats Units d'Amèrica)) ; Ashley-Koch, Allison (Duke University Medical Center) ; Universitat Autònoma de Barcelona
Chiari Malformation Type 1 (CM-1) is characterized by herniation of the cerebellar tonsils below the foramen magnum and the presence of headaches and other neurologic symptoms. Cranial bone constriction is suspected to be the most common biologic mechanism leading to CM-1. [...]
2021 - 10.1371/journal.pone.0251289
PloS one, Vol. 16 (may 2021)  
3.
28 p, 5.7 MB A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of Ca2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca 2+ Influx / Bahamonde, Maria Isabel (Universitat Pompeu Fabra) ; Serra, Selma Angèlica (Universitat Pompeu Fabra) ; Drechsel, Oliver (Universitat Pompeu Fabra) ; Rahman, Rubayte (Universitat Pompeu Fabra) ; Marcé-Grau, Anna (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Prieto, Marta (Universitat Pompeu Fabra) ; Ossowski, Stephan (Universitat Pompeu Fabra) ; Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Fernández-Fernández, José M. (Universitat Pompeu Fabra) ; Universitat Autònoma de Barcelona
Mutations in the CACNA1A gene, encoding the pore-forming Ca2. 1 (P/Q-type) channel α subunit, result in heterogeneous human neurological disorders, including familial and sporadic hemiplegic migraine along with episodic and progressive forms of ataxia. [...]
2015 - 10.1371/journal.pone.0146035
PloS one, Vol. 10 (december 2015)  
4.
9 p, 2.4 MB Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia / Sintas, Cèlia (Universitat de Barcelona. Institut de Biomedicina) ; Carreño, Oriel (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Fernàndez-Castillo, Noèlia (Institut de Recerca Sant Joan de Déu) ; Corominas, Roser (Institut Hospital del Mar d'Investigacions Mèdiques) ; Vila-Pueyo, Marta (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Toma, Claudio (University of New South Wales) ; Cuenca-León, Ester (Broad Institute of MIT and Harvard) ; Barroeta, Isabel (Institut d'Investigació Biomèdica Sant Pau) ; Roig, Carles (Universitat Autònoma de Barcelona. Departament de Medicina) ; Volpini, Víctor (Institut d'Investigació Biomèdica de Bellvitge) ; Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Cormand, Bru (Institut de Recerca Sant Joan de Déu)
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 mutation in the CACNA1A gene, encoding the α subunit of the P/Q-type voltage-gated calcium channel Ca2. [...]
2017 - 10.1038/s41598-017-02554-x
Scientific reports (Nature Publishing Group), Vol. 7 (may 2017)  
5.
21 p, 2.5 MB Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG) : Evidence for Hypoglycosylation-Driven Channelopathy / Izquierdo-Serra, Mercè (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ; Martínez-Monseny, Antonio F. (Hospital Sant Joan de Déu (Manresa)) ; López, Laura (Hospital Infantil Universitario Niño Jesús (Madrid)) ; Carrillo-García, Julia (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ; Edo, Albert (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ; Ortigoza-Escobar, Juan Darío (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; García, Óscar (Hospital Virgen de la Salud (Toledo)) ; Cancho-Candela, Ramón (Hospital Universitario Río Hortega (Valladolid)) ; Carrasco-Marina, M Llanos (Hospital Universitario Severo Ochoa) ; Gutiérrez-Solana, Luis G. (Hospital Infantil Universitario Niño Jesús (Madrid)) ; Cuadras, Daniel (Fundació Sant Joan de Déu) ; Muchart, Jordi (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Montero, Raquel (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Artuch, R (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Pérez-Cerdá, Celia (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Pérez, Belén (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Pérez-Dueñas, Belén (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Fernández-Fernández, José M. (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ; Serrano, Mercedes (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Universitat Autònoma de Barcelona
Stroke-like episodes (SLE) occur in phosphomannomutase deficiency (PMM2-CDG), and may complicate the course of channelopathies related to Familial Hemiplegic Migraine (FHM) caused by mutations in CACNA1A (encoding Ca2. [...]
2018 - 10.3390/ijms19020619
International journal of molecular sciences, Vol. 19 (february 2018)  
6.
7 p, 396.4 KB Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect / Correa-Vela, Marta (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Lupo, Vincenzo (Centro de Investigación Príncipe Felipe (València)) ; Montpeyó, Marta (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Sancho, Paula (Centro de Investigación Príncipe Felipe (València)) ; Marcé-Grau, Anna (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Hernández-Vara, Jorge (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Darling, Alejandra (Hospital Sant Joan de Déu (Manresa)) ; Jenkins, Alison (Centro de Investigación Príncipe Felipe (València)) ; Fernández-Rodríguez, Sandra (Centro de Investigación Príncipe Felipe (València)) ; Tello, Cristina (Centro de Investigación Príncipe Felipe (València)) ; Ramírez-Jiménez, Laura (Centro de Investigación Príncipe Felipe (València)) ; Pérez, Belén (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ; Sánchez-Montáñez, Ángel (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Macaya Ruiz, Alfons (Universitat Autònoma de Barcelona) ; Sobrido, María J. (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Martinez-Vicente, Marta (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Pérez-Dueñas, Belén (Universitat Autònoma de Barcelona) ; Espinós, Carmen (Centro de Investigación Príncipe Felipe (València)) ; Universitat Autònoma de Barcelona
FBXO7 is implicated in the ubiquitin-proteasome system and parkin-mediated mitophagy. FBXO7defects cause a levodopa-responsive parkinsonian-pyramidal syndrome(PPS). Methods: We investigated the disease molecular bases in a child with PPS and brain iron accumulation. [...]
2020 - 10.1002/acn3.51095
Annals of Clinical and Translational Neurology, Vol. 7 (august 2020) , p. 1436-1442  
7.
7 p, 248.2 KB Impact of Puberty in Pediatric Migraine : A Pilot Prospective Study / Fonseca, Elena (Hospital Universitari Vall d'Hebron) ; Torres-Ferrus, Marta (Hospital Universitari Vall d'Hebron) ; Gallardo, Víctor J. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron) ; Pozo-Rosich, Patricia (Hospital Universitari Vall d'Hebron) ; Universitat Autònoma de Barcelona
The short-term evolution of pediatric migraine remains unclear. We aimed to describe the evolution of migraine before and after puberty and its relationship with lifestyle habits. We prospectively selected prepuberal patients from a neuropediatric unit who had a migraine diagnosis. [...]
2020 - 10.3988/jcn.2020.16.3.416
Journal of Clinical Neurology (Seoul, Korea), Vol. 16 (july 2020) , p. 416-422  
8.
9 p, 1.8 MB Brain lesion scores obtained using a simple semi-quantitative scale from MR imaging are associated with motor function, communication and cognition in dyskinetic cerebral palsy / Laporta-Hoyos, Olga (Universitat Autònoma de Barcelona. Departament de Psicologia Clínica i de la Salut) ; Fiori, Simona (IRCCS Fondazione Stella Maris, Pisa, Italy) ; Pannek, Kerstin (Australian e-Health Research Centre) ; Ballester-Plané, Júlia (Universitat Autònoma de Barcelona. Departament de Psicologia Clínica i de la Salut) ; Leiva, David (Universitat de Barcelona. Departament de Psicologia Social i Psicologia Quantitativa) ; Reid, Lee B. (Australian e-Health Research Centre) ; Pagnozzi, Alex M. (Australian e-Health Research Centre) ; Vázquez, Élida (Hospital Universitari Vall d'Hebron) ; Delgado Martínez, Ignacio (Hospital Universitari Vall d'Hebron) ; Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Pueyo, Roser (Universitat Autònoma de Barcelona. Departament de Psicologia Clínica i de la Salut) ; Boyd, Roslyn N. (Queensland Cerebral Palsy and Rehabilitation Research Centre, Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia) ; Universitat Autònoma de Barcelona
To characterise brain lesions in dyskinetic cerebral palsy (DCP) using the semi-quantitative scale for structural MRI (sqMRI) and to investigate their relationship with motor, communication and cognitive function. [...]
2018 - 10.1016/j.nicl.2018.06.015
NeuroImage, Vol. 19 (june 2018) , p. 892-900  
9.
9 p, 550.3 KB Epilepsy with migrating focal seizures / Barcia, Giulia (Universitat Autònoma de Barcelona) ; Chemaly, Nicole (Universitat Autònoma de Barcelona) ; Kuchenbuch, Mathieu (Universitat Autònoma de Barcelona) ; Eisermann, Monika (Universitat Autònoma de Barcelona) ; Gobin-Limballe, Stéphanie (Universitat Autònoma de Barcelona) ; Ciorna, Viorica (Universitat Autònoma de Barcelona) ; Macaya Ruiz, Alfons (Universitat Autònoma de Barcelona) ; Lambert, Laetitia (Universitat Autònoma de Barcelona) ; Dubois, Fanny (Universitat Autònoma de Barcelona) ; Doummar, Diane (Universitat Autònoma de Barcelona) ; Billette de Villemeur, Thierry (Universitat Autònoma de Barcelona) ; Villeneuve, Nathalie (Universitat Autònoma de Barcelona) ; Barthez, Marie-Anne (Universitat Autònoma de Barcelona) ; Nava, Caroline (Universitat Autònoma de Barcelona) ; Boddaert, Nathalie (Universitat Autònoma de Barcelona) ; Kaminska, Anna (Universitat Autònoma de Barcelona) ; Bahi-Buisson, Nadia (Universitat Autònoma de Barcelona) ; Milh, Mathieu (Universitat Autònoma de Barcelona) ; Auvin, Stéphane (Universitat Autònoma de Barcelona) ; Bonnefont, Jean-Paul (Universitat Autònoma de Barcelona) ; Nabbout, Rima (Universitat Autònoma de Barcelona) ; VHIR Vall d'Hebron Institut de Recerca
To report new sporadic cases and 1 family with epilepsy of infancy with migrating focal seizures (EIMFSs) due to KCNT1 gain-of-function and to assess therapies' efficacy including quinidine. We reviewed the clinical, EEG, and molecular data of 17 new patients with EIMFS and KCNT1 mutations, in collaboration with the network of the French reference center for rare epilepsies. [...]
2019 - 10.1212/NXG.0000000000000363
Neurology: Genetics, Vol. 5 (october 2019)  
10.
16 p, 3.4 MB AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders / Salpietro, V. (Department of Neurosciences. Rehabilitation. Ophthalmology. Genetics. Maternal and Child Health. University of Genoa) ; Dixon, C.L. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Guo, H. (Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics. School of Life Sciences. Central South University) ; Bello, O.D. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Vandrovcova, J. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Efthymiou, S. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Maroofian, R. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Heimer, G. (Pediatric Neurology Unit. Safra Children's Hospital. Sheba Medical Center and Sackler Faculty of Medicine. Tel Aviv University) ; Burglen, L. (Centre de Référence des Malformations et Maladies Congénitales du Cervelet. Département de Génétique et Embryologie Médicale. APHP. Hôpital Trousseau) ; Valence, S. (Centre de Référence des Malformations et Maladies Congénitales du Cervelet. Service de Neurologie Pédiatrique. APHP. Hôpital Trousseau) ; Torti, E. (GeneDx) ; Hacke, M. (Biochemistry Center. Heidelberg University) ; Rankin, J. (Royal Devon and Exeter NHS Foundation Trust) ; Tariq, H. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Colin, E. (MitoLab. UMR CNRS 6015-INSERM U1083. MitoVasc Institute. Angers University) ; Procaccio, V. (MitoLab. UMR CNRS 6015-INSERM U1083. MitoVasc Institute. Angers University) ; Striano, P. (Department of Neurosciences. Rehabilitation. Ophthalmology. Genetics. Maternal and Child Health. University of Genoa) ; Mankad, K. (Great Ormond Street Hospital for Children (Londres)) ; Lieb, A. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Chen, S. (Division of Medical Genetics. Northwell Health/Hofstra University SOM) ; Pisani, L. (Division of Medical Genetics. Northwell Health/Hofstra University SOM) ; Bettencourt, C. (UCL Institute of Neurology (Regne Unit)) ; Männikkö, R. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Manole, A. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Brusco, Alfredo (Department of Medical Sciences. Medical Genetics Unit. University of Torino) ; Grosso, E. (Department of Medical Sciences. Medical Genetics Unit. University of Torino) ; Ferrero, G.B. (Department of Public Health and Pediatrics. University of Torino) ; Armstrong-Moron, J. (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; Gueden, S. (Unit of Neuropediatrics. University Hospital) ; Bar-Yosef, O. (Pediatric Neurology Unit. Safra Children's Hospital. Sheba Medical Center and Sackler Faculty of Medicine. Tel Aviv University) ; Tzadok, M. (Pediatric Neurology Unit. Safra Children's Hospital. Sheba Medical Center and Sackler Faculty of Medicine. Tel Aviv University) ; Monaghan, K.G. (GeneDx) ; Santiago-Sim, T. (GeneDx) ; Person, R.E. (GeneDx) ; Cho, M.T. (GeneDx) ; Willaert, R. (GeneDx) ; Yoo, Y. (Department of Biomedical Sciences. Seoul National University) ; Chae, J.H. (Department of Pediatrics. Seoul National University) ; Quan, Y. (Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics. School of Life Sciences. Central South University) ; Wu, H. (Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics. School of Life Sciences. Central South University) ; Wang, T. (Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics. School of Life Sciences. Central South University) ; Bernier, R.A. (Department of Psychiatry. University of Washington) ; Xia, K. (Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics. School of Life Sciences. Central South University) ; Blesson, A. (Center for Autism and Related Disorders. Kennedy Krieger Institute) ; Jain, M. (Center for Autism and Related Disorders. Kennedy Krieger Institute) ; Motazacker, M.M. (Department of Clinical Genetics. University of Amsterdam) ; Jaeger, B. (Department of Pediatric Neurology. Amsterdam UMC) ; Schneider, A.L. (Epilepsy Research Centre. Department of Medicine. University of Melbourne. Austin Health) ; Boysen, K. (Epilepsy Research Centre. Department of Medicine. University of Melbourne. Austin Health) ; Muir, A.M. (Department of Pediatrics. University of Washington) ; Myers, C.T. (Department of Pediatrics. Division of Genetic Medicine. University of Washington) ; Gavrilova, R.H. (Department of Clinical Genomics. Mayo Clinic) ; Gunderson, L. (Department of Clinical Genomics. Mayo Clinic) ; Schultz-Rogers, L. (Department of Clinical Genomics. Mayo Clinic) ; Klee, E.W. (Department of Clinical Genomics. Mayo Clinic) ; Dyment, D. (Children's Hospital of Eastern Ontario Research Institute. University of Ottawa) ; Osmond, M. (Genome Québec Innovation Center) ; Parellada, M. (Hospital General Universitario Gregorio Marañón) ; Llorente, C. (Hospital General Universitario Gregorio Marañón) ; Gonzalez-Peñas, J. (Hospital General Universitario Gregorio Marañón) ; Carracedo, A. (Fundación Pública Galega de Medicina Xenómica) ; Van Haeringen, A. (Department of Clinical Genetics. Leiden University Medical Center) ; Ruivenkamp, C. (Department of Clinical Genetics. Leiden University Medical Center) ; Nava, Caroline. (Department of Genetics. Assistance Publique - Hôpitaux de Paris. University Hôpital Pitié-Salpêtrière) ; Heron, D. (Department of Genetics. Assistance Publique - Hôpitaux de Paris. University Hôpital Pitié-Salpêtrière) ; Nardello, R. (Department of Health Promotion,Mother and Child Care. Internal Medicine and Medical Specialities "G. D'Alessandro". University of Palermo) ; Iacomino, M. (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; Minetti, C. (Department of Neurosciences. Rehabilitation. Ophthalmology. Genetics. Maternal and Child Health. University of Genoa) ; Skabar, A. (Institute for Maternal and Child Health. IRCCS "Burlo Garofolo". University of Trieste) ; Fabretto, A. (Institute for Maternal and Child Health. IRCCS "Burlo Garofolo". University of Trieste) ; Hanna, M.G. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Bugiardini, E. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Hostettler, I. (UCL Queen Square Institute of Neurology (Regne Unit)) ; O'Callaghan, B. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Khan, A. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Cortese, Andrea (UCL Queen Square Institute of Neurology (Regne Unit)) ; O'Connor, E. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Yau, W.Y. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Bourinaris, T. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Kaiyrzhanov, R. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Chelban, V. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Madej, M. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Diana, M.C. (Pediatric Neurology and Muscular Diseases Unit. IRCCS Istituto "Giannina Gaslini") ; Vari, M.S. (Pediatric Neurology and Muscular Diseases Unit. IRCCS Istituto "Giannina Gaslini") ; Pedemonte, M. (Pediatric Neurology and Muscular Diseases Unit. IRCCS Istituto "Giannina Gaslini") ; Bruno, C. (Pediatric Neurology and Muscular Diseases Unit. IRCCS Istituto "Giannina Gaslini") ; Balagura, G. (Department of Neurosciences. Rehabilitation. Ophthalmology. Genetics. Maternal and Child Health. University of Genoa) ; Scala, M. (Department of Neurosciences. Rehabilitation. Ophthalmology. Genetics. Maternal and Child Health. University of Genoa) ; Fiorillo, C. (Department of Neurosciences. Rehabilitation. Ophthalmology. Genetics. Maternal and Child Health. University of Genoa) ; Nobili, L. (Department of Neurosciences. Rehabilitation. Ophthalmology. Genetics. Maternal and Child Health. University of Genoa) ; Malintan, N.T. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Zanetti, M.N. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Krishnakumar, S.S. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Lignani, G. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Jepson, J.E.C. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Broda, P. (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; Baldassari, S. (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; Rossi, P. (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; Fruscione, F. (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; Madia, F. (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; Traverso, M. (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; De-Marco, P. (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; Pérez-Dueñas, Belén (Hospital Universitari Vall d'Hebron) ; Munell Casadesus, Francina (Hospital Universitari Vall d'Hebron) ; Kriouile, Y. (Children's Hospital of Rabat. University of Rabat) ; El-Khorassani, M. (Children's Hospital of Rabat. University of Rabat) ; Karashova, B. (Department of Paediatrics. Medical University of Sofia) ; Avdjieva, D. (Department of Paediatrics. Medical University of Sofia) ; Kathom, H. (Department of Paediatrics. Medical University of Sofia) ; Tincheva, R. (Department of Paediatrics. Medical University of Sofia) ; Van-Maldergem, L. (Centre of Human Genetics. University Hospital Liege) ; Nachbauer, W. (Department of Neurology. Medical University Innsbruck) ; Boesch, S. (Department of Neurology. Medical University Innsbruck) ; Gagliano, A. (Ospedale Pediatrico "A. Cao". Department of Biomedical Sciences. University of Cagliari) ; Amadori, E. (Child and Adolescent Neuropsychiatry. University of Campania "Luigi Vanvitelli") ; Goraya, J.S. (Division of Paediatric Neurology. Dayanand Medical College & Hospital) ; Sultan, T. (Department of Paediatric Neurology. Children's Hospital of Lahore) ; Kirmani, S. (Department of Medical Genetics. Aga Khan University Hospital. Karachi) ; Ibrahim, S. (Department of Paediatric Neurology. Aga Khan University Hospital. Karachi) ; Jan, F. (Department of Paediatric Neurology. Aga Khan University Hospital. Karachi) ; Mine, J. (Department of Pediatrics. Shimane University School of Medicine) ; Banu, S. (Institute of Child Health and Shishu Shastho Foundation Hospital) ; Veggiotti, P. (Vittore Buzzi Children's Hospital) ; Zuccotti, G.V. (Vittore Buzzi Children's Hospital) ; Ferrari, M.D. (Leiden University Medical Center) ; Van Den Maagdenberg, A.M.J. (Leiden University Medical Center) ; Verrotti, A. (Paediatric Department. San Salvatore Hospital. University of L'Aquila) ; Marseglia, G.L. (Department of Pediatrics. University of Pavia. IRCCS Policlinico "San Matteo") ; Savasta, S. (Department of Pediatrics. University of Pavia. IRCCS Policlinico "San Matteo") ; Soler, M.A. (Computational Modelling of Nanoscale and Biophysical systems Laboratory. Italian Institute of Technology) ; Scuderi, C. (Laboratorio di Neuropatologia Clinica. U.O.S. Malattie. Neuromuscolari Associazione OASI Maria SS. ONLUS - IRCCS) ; Borgione, E. (Laboratorio di Neuropatologia Clinica. U.O.S. Malattie. Neuromuscolari Associazione OASI Maria SS. ONLUS - IRCCS) ; Chimenz, R. (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ; Gitto, E. (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ; Dipasquale, V. (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ; Sallemi, A. (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ; Fusco, M. (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ; Cuppari, C. (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ; Cutrupi, M.C. (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ; Ruggieri, M. (Department of Clinical and Experimental Medicine. Section of Pediatrics and Child Neuropsychiatry. University of Catania) ; Cama, A. (Department of Neurosurgery. IRCCS Istituto Giannina Gaslini) ; Capra, V. (Department of Neurosurgery. IRCCS Istituto Giannina Gaslini) ; Mencacci, N.E. (Department of Neurology. Northwestern University Feinberg School of Medicine) ; Boles, R. (Courtagen Life Sciences) ; Gupta, N. (All India Institute of Medical Sciences (Nova Delhi, Índia)) ; Kabra, M. (All India Institute of Medical Sciences (Nova Delhi, Índia)) ; Papacostas, S. (The Cyprus Institute of Neurology and Genetics) ; Zamba-Papanicolaou, E. (The Cyprus Institute of Neurology and Genetics) ; Dardiotis, Efthimios (General University Hospital of Larissa (Grècia)) ; Maqbool, S. (Department of Developmental and Behavioral Pediatrics. Children Hospital Complex and Institute of Child Health) ; Rana, N. (Department of Pediatric Neurology. Children Hospital Complex and Institute of Child Health) ; Atawneh, O. (Hilal Pediatric Hospital Hebron. Hebron. West Bank) ; Lim, S.Y. (Department of Biomedical Science. Faculty of Medicine. University of Malaysia) ; Shaikh, F. (Jeffrey Cheah School of Medicine and Health Sciences. Monash University Malaysia) ; Koutsis, G. (Neurogenetics Unit. Neurology Department. Eginition Hospital. National and Kapodistrian University) ; Breza, M. (Neurogenetics Unit. Neurology Department. Eginition Hospital. National and Kapodistrian University) ; Coviello, D.A. (Laboratorio di Genetica Umana. IRCCS Istituto Giannina Gaslini) ; Dauvilliers, Y.A. (University Hospital of Montpellier (França)) ; AlKhawaja, I. (Albashir University Hospital) ; AlKhawaja, M. (Prince Hamzah Hospital. Ministry of Health) ; Al-Mutairi, F. (King Saud University) ; Stojkovic, T. (Institute of Myology. Hôpital La Pitié Salpêtrière) ; Ferrucci, V. (CEINGE. Biotecnologie Avanzate S.c.a.rl.) ; Zollo, M. (CEINGE. Biotecnologie Avanzate S.c.a.rl.) ; Alkuraya, F.S. (King Faisal Specialist Hospital and Research Centre (Aràbia Saudita)) ; Kinali, M. (The Portland Hospital) ; Sherifa, H. (Assiut University Hospital) ; Benrhouma, H. (Research Unit UR12 SP24. Department of Child and Adolescent Neurology. National Institute Mongi Ben Hmida of Neurology) ; Turki, I.B.Y. (Research Unit UR12 SP24. Department of Child and Adolescent Neurology. National Institute Mongi Ben Hmida of Neurology) ; Tazir, M. (Laboratoire de Recherche en Neurosciences. Service de Neurologie) ; Obeid, M. (Department of Anatomy. Cell Biology and Physiology. American University of Beirut Medical Center) ; Bakhtadze, S. (Department of Child Neurology. Tbilisi State Medical University) ; Saadi, N.W. (Baghdad College of Medicine. Children Welfare Teaching Hospital) ; Zaki, M.S. (Human Genetics and Genome Research Division. National Research Centre) ; Triki, C.C. (Child Neurology Department. Hedi Chaker hospital- Sfax Tunisia) ; Benfenati, F. (Istituto Italiano di Tecnologia) ; Gustincich, S. (Istituto Italiano di Tecnologia) ; Kara, M. (Paediatric Neurology Unit. Department of Pediatrics. University of Tripoli) ; Belcastro, V. (Neurology Unit. S. Anna Hospital) ; Specchio, N. (Ospedale Pediatrico Bambino Gesù (Roma, Itàlia)) ; Capovilla, G. (Child Neuropsychiatry Department. Epilepsy Center. C. Poma Hospital) ; Karimiani, E.G. (Genetics Research Centre. Molecular and Clinical Sciences Institute. St George's. University of London. Cranmer Terrace) ; Salih, A.M. (Medical University of Duhok) ; Okubadejo, N.U. (College of Medicine. University of Lagos (CMUL) & Lagos University Teaching Hospital) ; Ojo, O.O. (College of Medicine. University of Lagos (CMUL) & Lagos University Teaching Hospital) ; Oshinaike, O.O. (College of Medicine. University of Lagos (CMUL) & Lagos University Teaching Hospital) ; Oguntunde, O. (College of Medicine. University of Lagos (CMUL) & Lagos University Teaching Hospital) ; Wahab, K. (University of Ilorin Teaching Hospital (UITH)) ; Bello, A.H. (University of Ilorin Teaching Hospital (UITH)) ; Abubakar, S. (Ahmadu Bello University) ; Obiabo, Y. (Delta State University Teaching Hospital) ; Nwazor, E. (Federal Medical Centre) ; Ekenze, O. (University of Nigeria Teaching Hospital) ; Williams, U. (University of Calabar Teaching Hospital) ; Iyagba, A. (University of Port Harcourt Teaching Hospital) ; Taiwo, L. (Babcock University. Ilishan. Remo & Federal Medical Centre) ; Komolafe, M. (Obafemi Awolowo University Teaching Hospital (OAUTH)) ; Senkevich, K. (Pavlov First Saint Petersburg State Medical University) ; Shashkin, C. (Kazakh National State University) ; Zharkynbekova, N. (Shymkent Medical Academy) ; Koneyev, K. (Kazakh National State University) ; Manizha, G. (Avicenna Tajik State Medical University) ; Isrofilov, M. (Avicenna Tajik State Medical University) ; Guliyeva, U. (Mediclub clinic) ; Salayev, K. (Azerbaijan State Medical University) ; Khachatryan, S. ("Somnus" Neurology Clinic Sleep and Movement Disorders Center) ; Rossi, S. (Department of Neurology. Università Cattolica del Sacro Cuore) ; Silvestri, G. (Department of Neurology. Università Cattolica del Sacro Cuore) ; Haridy, N. (Department of Neurology and Psychiatry. Assuit University Hospital) ; Ramenghi, L.A. (Neonatal Intensive Care Unit. Istituto Giannina Gaslini) ; Xiromerisiou, G. (Department of Neurology. Medical School. University of Thessaly) ; David, E. (Radiology Unit. Papardo Hospital. Viale Ferdinando Stagno d'Alcontres. Contrada Papardo) ; Aguennouz, M. (Unit of Neurology and Neuromuscular Diseases. Department of Clinical and Experimental Medicine. University of Messina) ; Fidani, L. (Department of Biology. Medical School. Aristotle University) ; Spanaki, C. (Department of Neurology. Medical School. University of Crete) ; Tucci, A. (William Harvey Research Institute. The NIHR Biomedical Research Centre at Barts. Queen Mary University London) ; Raspall-Chaure, Miquel (Hospital Universitari Vall d'Hebron) ; Chez, M. (Neuroscience Medical Group. 1625 Stockton Boulevard. Suite 104) ; Tsai, A. (Department of Genetics and Inherited Metabolic diseases. Children's Hospital Colorado) ; Fassi, E. (Department of Pediatrics. Washington University School of Medicine) ; Shinawi, M. (Department of Pediatrics. Washington University School of Medicine) ; Constantino, J.N. (William Greenleaf Eliot Division of Child & Adolescent Psychiatry. Department of Psychiatry. Washington University School of Medicine) ; De Zorzi, R. (Department of Chemical and Pharmaceutical Sciences. University of Trieste) ; Fortuna, Sara (Department of Chemical and Pharmaceutical Sciences. University of Trieste) ; Kok, F. (Mendelics Genomic Analysis) ; Keren, B. (Department of Genetics. Assistance Publique - Hôpitaux de Paris. University Hôpital Pitié-Salpêtrière) ; Bonneau, D. (MitoLab. UMR CNRS 6015-INSERM U1083. MitoVasc Institute. Angers University) ; Choi, M. (Department of Biomedical Sciences. Seoul National University) ; Benzeev, B. (Pediatric Neurology Unit. Safra Children's Hospital. Sheba Medical Center and Sackler Faculty of Medicine. Tel Aviv University) ; Zara, F. (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; Mefford, H.C. (Department of Pediatrics. University of Washington) ; Scheffer, I.E. (Epilepsy Research Centre. Department of Medicine. University of Melbourne. Austin Health) ; Clayton-Smith, J. (Division of Evolution and Genomic Sciences. School of Biological Sciences. University of Manchester) ; Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron) ; Rothman, J.E. (Department of Cell Biology. Yale University School of Medicine) ; Eichler, E.E. (Howard Hughes Medical Institute. University of Washington) ; Kullmann, D.M. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Houlden, H. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Universitat Autònoma de Barcelona
AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca-impermeable, with a linear relationship between current and trans-membrane voltage. [...]
2019 - 10.1038/s41467-019-10910-w
Nature communications, Vol. 10 Núm. 1 (january 2019) , p. 3094  

Articles : 17 registres trobats   1 - 10següent  anar al registre:
Documents de recerca 5 registres trobats  
1.
288 p, 6.9 MB Seqüenciació exòmica en l'estudi molecular de les encefalopaties epilèptiques d'inici precoç / Marcé-Grau, Anna ; Macaya Ruiz, Alfons, dir. (Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia i Ginecologia i Medicina Preventiva i Salut Pública) ; Rodríguez Álvarez, José, dir. (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ; Universitat Autònoma de Barcelona. Institut de Neurociències
Les encefalopaties epilèptiques són una condició on les anomalies epileptiformes es postulen com a contribuïdores d'una alteració progressiva de la funció cerebral. Aquest treball se centra específicament en les Encefalopaties Epilèptiques d'Inici Precoç (EIEE), les quals són un grup d'encefalopaties epilèptiques amb inici al primer any de vida. [...]
Epileptic encephalopathy is a condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. This work is focused specifically on Early Infantile Epileptic Encephalopathies (EIEE), which are a group of Epileptic Encephalopathies which start within the first year of life. [...]

[Barcelona] : Universitat Autònoma de Barcelona, 2018.  
2.
20 p, 524.4 KB L'ús de corticoides en pacients pediàtrics amb patologia neurològica aguda / Areny Perelló, Berta ; Macaya Ruiz, Alfons, dir. ; Universitat Autònoma de Barcelona. Facultat de Medicina
Antecedents: els corticoides són potents antiinflamatoris però alhora tenen un gran nombre de potencials efectes adversos. En l'actualitat, pel que fa a patologia neurològica aguda, estan indicats en meningitis agudes bacterianes i en alguns casos d'status migranyós i epilèptic, entre d'altres. [...]
2018
Grau en Medicina [1192]  
3.
225 p, 3.3 MB Estudio de la malformación de Chiari 1 : correlación clínico-radiológica en la infancia e investigación de la base genética / Boronat, Susana ; Macaya Ruiz, Alfons, dir. ; Universitat Autònoma de Barcelona. Departament de Pediatria, d'Obstetrícia i Ginecologia i de Medicina Preventiva
[Barcelona] : Universitat Autònoma de Barcelona, 2017.  
4.
206 p, 9.3 MB Genètica i epigènetica dels trastorns neurològics paroxístics / Vila Pueyo, Marta ; Macaya Ruiz, Alfons, dir. ; Pozo-Rosich, Patricia, dir. ; Giraldo, Jesús, dir. ; Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia
[Barcelona] : Universitat Autònoma de Barcelona, 2015  
5.
151 p, 1.3 MB Evolución neurológica, radiológia y cognitiva en niños nacidos con leucomalacia periventricular / Romano Berindoague, Camila ; Macaya Ruiz, Alfons, dir. (Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia i Ginecologia i Medicina Preventiva i Salut Pública)
Las alteraciones de la ecogenicidad periventricular en el recién nacido prematuro o a término han sido asociadas a un amplio espectro de alteraciones cognitivas, motoras y sensoriales. Mediante el análisis minucioso de los hallazgos de neuroimagen neonatal en un grupo suficientemente extenso de supervivientes de leucomlacia periventricular (LPV)y su correlación con los datos neurológicos y las puntuaciones en evaluaciones neuropsicológicas efectuadas durante seguimiento a largo plazo, así como con los hallazgos de resonancia craneal (RM) en la infancia, se establecierongrupos pronósticos asociados a distintos patrones de alteración ecográfica cerebral neonatal. [...]
The alterations of periventricular echogenicity in premature infants or term newborns have been associated with a wide spectrum of cognitive, motor and sensory disfunctions. Through careful analysis of the neonatal neuroimaging findings in a extensive sample of periventricular leukomalacia (PVL) survivors and their correlation with neurological data and scores on neuropsychological assessments made during long-term follow-up, as well as cranial MRI findings in childhood, prognostic groups were established associated with different patterns of altered neonatal brain ultrasound. [...]

Bellaterra : Universitat Autònoma de Barcelona, 2014  

Us interessa rebre alertes sobre nous resultats d'aquesta cerca?
Definiu una alerta personal via correu electrònic o subscribiu-vos al canal RSS.