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7 p, 396.4 KB |
Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect
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Correa-Vela, Marta (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Lupo, Vincenzo (Centro de Investigación Príncipe Felipe (CIPF)) ;
Montpeyó, Marta (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Sancho, Paula (Centro de Investigación Príncipe Felipe (CIPF)) ;
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) ;
Jenkins, Alison (Centro de Investigación Príncipe Felipe (CIPF)) ;
Fernández-Rodríguez, Sandra (Centro de Investigación Príncipe Felipe (CIPF)) ;
Tello, Cristina (Centro de Investigación Príncipe Felipe (CIPF)) ;
Ramírez-Jiménez, Laura (Centro de Investigación Príncipe Felipe (CIPF)) ;
Pérez, Belén (Instituto de Investigación 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 (CIPF)) ;
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
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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
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Laporta-Hoyos, Olga (Universitat Autònoma de Barcelona. Departament de Psicologia Clínica i Psicobiologia) ;
Fiori, Simona (IRCCS Fondazione Stella Maris, Pisa, Italy) ;
Pannek, Kerstin (Australian e-Health Research Centre, Commonwealth Scientific and Industrial Research Organisation, Brisbane, Australia) ;
Ballester-Plané, Júlia (Universitat Autònoma de Barcelona. Departament de Psicologia Clínica i Psicobiologia) ;
Leiva, David (Universitat de Barcelona. Departament de Psicologia Social i Psicologia Quantitativa) ;
Reid, Lee B. (Australian e-Health Research Centre, Commonwealth Scientific and Industrial Research Organisation, Brisbane, Australia) ;
Pagnozzi, Alex M. (Australian e-Health Research Centre, Commonwealth Scientific and Industrial Research Organisation, Brisbane, Australia) ;
Vázquez, Élida (Hospital Universitari Vall d'Hebron) ;
Delgado, 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 Psicobiologia) ;
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
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9 p, 550.3 KB |
Epilepsy with migrating focal seizures
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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)
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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
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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. (Department of Neuromuscular Disorders. UCL Queen Square Institute of Neurology) ;
Efthymiou, S. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ;
Maroofian, R. (Department of Neuromuscular Disorders. UCL Queen Square Institute of Neurology) ;
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. (Department of Neuromuscular Disorders. UCL Queen Square Institute of Neurology) ;
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) ;
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. (Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders. UCL Queen Square Institute of Neurology) ;
Männikkö, R. (Department of Neuromuscular Disorders. UCL Queen Square Institute of Neurology) ;
Manole, A. (Department of Neuromuscular Disorders. UCL Queen Square Institute of Neurology) ;
Brusco, A. (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 Gregorio Marañón (Madrid)) ;
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. (Department of Neuromuscular Disorders. UCL Queen Square Institute of Neurology) ;
Bugiardini, E. (Department of Neuromuscular Disorders. UCL Queen Square Institute of Neurology) ;
Hostettler, I. (Department of Neuromuscular Disorders. UCL Queen Square Institute of Neurology) ;
O'Callaghan, B. (Department of Neuromuscular Disorders. UCL Queen Square Institute of Neurology) ;
Khan, A. (Department of Neuromuscular Disorders. UCL Queen Square Institute of Neurology) ;
Cortese, A. (Department of Neuromuscular Disorders. UCL Queen Square Institute of Neurology) ;
O'Connor, E. (Department of Neuromuscular Disorders. UCL Queen Square Institute of Neurology) ;
Yau, W.Y. (Department of Neuromuscular Disorders. UCL Queen Square Institute of Neurology) ;
Bourinaris, T. (Department of Neuromuscular Disorders. UCL Queen Square Institute of Neurology) ;
Kaiyrzhanov, R. (Department of Neuromuscular Disorders. UCL Queen Square Institute of Neurology) ;
Chelban, V. (Department of Neuromuscular Disorders. UCL Queen Square Institute of Neurology) ;
Madej, M. (Department of Neuromuscular Disorders. UCL Queen Square Institute of Neurology) ;
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. (Division of Genetics. Department of Pediatrics. All India Institute of Medical Sciences (AIIMS)) ;
Kabra, M. (Division of Genetics. Department of Pediatrics. All India Institute of Medical Sciences (AIIMS)) ;
Papacostas, S. (The Cyprus Institute of Neurology and Genetics) ;
Zamba-Papanicolaou, E. (The Cyprus Institute of Neurology and Genetics) ;
Dardiotis, E. (University Hospital of Larissa. Department of Neurology) ;
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 Montpellier) ;
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 Center) ;
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. (Almazov Medical Research Centre and 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, S. (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. (Department of Neuromuscular Disorders. UCL Queen Square Institute of Neurology) ;
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
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6.
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8 p, 1.3 MB |
Hypermanganesemia due to mutations in SLC39A14 : further insights into Mn deposition in the central nervous system
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Marti-Sanchez, L. ;
Ortigoza-Escobar, J. D. (Barcelona, Spain) ;
Darling, A. (Barcelona, Spain) ;
Villaronga, M. (Barcelona, Spain) ;
Baide, H. (Barcelona, Spain) ;
Molero-Luis, M. (Barcelona, Spain) ;
Batllori, M. (Barcelona, Spain) ;
Vanegas, M. I. (Barcelona, Spain) ;
Muchart, J. (Barcelona, Spain) ;
Aquino, L. (Barcelona, Spain) ;
Artuch, R. (Barcelona, Spain) ;
Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Kurian, M. A. (London, UK) ;
Dueñas, Pérez (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Universitat Autònoma de Barcelona
The SLC39A14, SLC30A10 and SLC39A8 are considered to be key genes involved in manganese (Mn) homeostasis in humans. Mn levels in plasma and urine are useful tools for early recognition of these disorders. [...]
2018 - 10.1186/s13023-018-0758-x
Orphanet Journal of Rare Diseases, Vol. 13 (january 2018)
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7.
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12 p, 1.0 MB |
White matter integrity in dyskinetic cerebral palsy : Relationship with intelligence quotient and executive function
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Laporta-Hoyos, Olga (Institut de Recerca Sant Joan de Déu) ;
Pannek, Kerstin (Australian e-Health Research Centre, Commonwealth Scientific and Industrial Research Organisation, Brisbane, Australia) ;
Ballester-Plané, Júlia (Institut de Recerca Sant Joan de Déu) ;
Reid, Lee B. (Queensland Cerebral Palsy and Rehabilitation Research Centre, Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia) ;
Vázquez, Élida (Hospital Universitari Vall d'Hebron) ;
Delgado, Ignacio (Hospital Universitari Vall d'Hebron) ;
Zubiaurre-Elorza, Leire (Departamento de Fundamentos y Métodos de la Psicología, Facultad de Psicología y Educación. Universidad de Deusto, Bilbo-Bizkaia, Spain) ;
Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Póo, Pilar (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Meléndez-Plumed, Mar (Hospital Universitari Vall d'Hebron) ;
Junqué, Carme (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Boyd, Roslyn (Queensland Cerebral Palsy and Rehabilitation Research Centre, Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia) ;
Pueyo, Roser (Institut de Recerca Sant Joan de Déu)
Dyskinetic cerebral palsy (CP) is one of the most disabling motor types of CP and has been classically associated with injury to the basal ganglia and thalamus. Although cognitive dysfunction is common in CP, there is a paucity of published quantitative analyses investigating the relationship between white matter (WM) microstructure and cognition in this CP type. [...]
2017 - 10.1016/j.nicl.2017.05.005
NeuroImage, Vol. 15 (may 2017) , p. 789-800
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8.
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9 p, 2.9 MB |
GNAO1 encephalopathy : further delineation of a severe neurodevelopmental syndrome affecting females
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Marcé-Grau, Anna (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Dalton, James A. R (Universitat Autònoma de Barcelona. Institut de Neurociències) ;
López-Pisón, Javier (Sección de Neuropediatría, Hospital Universitario Miguel Servet) ;
García-Jiménez, María Concepción (Sección de Metabolismo, Hospital Universitario Miguel Servet) ;
Monge-Galindo, Lorena (Secciones de Neuropediatría y Metabolismo, Hospital Universitario Miguel Servet) ;
Cuenca-León, Ester (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Giraldo, Jesús (Universitat Autònoma de Barcelona. Institut de Neurociències) ;
Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron)
De novo heterozygous mutations in the GNAO1 gene, encoding the Gα o subunit of G-proteins, are the cause of a severe neurodevelopmental disorder, featuring early infantile seizures, profound cognitive dysfunction and, occasionally, movement disorder (early infantile epileptic encephalopathy-17). [...]
2016 - 10.1186/s13023-016-0416-0
Orphanet Journal of Rare Diseases, Vol. 11 (april 2016)
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9 p, 799.8 KB |
Phosphomannomutase deficiency (PMM2-CDG) : ataxia and cerebellar assessment
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Serrano, Mercedes (Neuropediatric Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Passeig Sant Joan de Déu) ;
de Diego, Víctor (Neuropediatric Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III) ;
Muchart, Jordi (Radiology Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III) ;
Cuadras, Daniel (Statistics Department, Fundació Sant Joan de Déu) ;
Felipe, Ana (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Velázquez, Ramón (Hospital Universitario La Paz (Madrid)) ;
Poo, M. Pilar (Neuropediatric Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III) ;
Fons, Carmen (Neuropediatric Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III) ;
O'Callaghan, M. Mar (Neuropediatric Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III) ;
García-Cazorla, Angels (Neuropediatric Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III) ;
Boix, Cristina (Neuropediatric Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III) ;
Robles, Bernabé (Hospital Sant Joan de Déu) ;
Carratalá, Francisco (Neurology Department, Hospital Sant Joan d'Alacant) ;
Girós, Marisa (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Briones, Paz (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Gort, Laura (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Artuch, Rafael (Clinical Biochemistry Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III) ;
Pérez-Cerdá, Celia (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Jaeken, Jaak (Center for Metabolic Disease, KULeuven) ;
Pérez, Belén (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Pérez-Dueñas, Belén (Neuropediatric Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III) ;
Universitat Autònoma de Barcelona ;
Hospital Universitari Vall d'Hebron. Secció de Neurologia Pediàtrica
Phosphomannomutase deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. The cerebellum is nearly always affected in PMM2-CDG patients, a cerebellar atrophy progression is observed, and cerebellar dysfunction is their main daily functional limitation. [...]
2015 - 10.1186/s13023-015-0358-y
Orphanet Journal of Rare Diseases, Vol. 10 (october 2015)
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10.
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17 p, 1.1 MB |
Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine : clinical, genetic, and functional studies
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Carreño, Oriel (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Corominas, Roser (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Serra, Selma Angèlica (Universitat Popeu Fabra. Departament de Ciències Experimentals i de la Salut) ;
Sintas, Cèlia (Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER)) ;
Fernández-Castillo, Noèlia (Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER)) ;
Vila-Pueyo, Marta (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Toma, Claudio (Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER)) ;
Gené, Gemma G (Universitat Popeu Fabra. Departament de Ciències Experimentals i de la Salut) ;
Pons, Roser (University of Athens. First Department of Pediatrics) ;
Llaneza, Miguel (Sección de Neurología, Complejo Hospitalario Arquitecto Marcide-Novoa Santos) ;
Sobrido, María-Jesús (Fundación Pública Galega de Medicina Xenómica) ;
Grinberg, Daniel (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Valverde, Miguel Ángel (Universitat Popeu Fabra. Departament de Ciències Experimentals i de la Salut) ;
Fernández-Fernández, José Manuel (Universitat Popeu Fabra. Departament de Ciències Experimentals i de la Salut) ;
Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Cormand, Bru (Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER)) ;
Universitat Autònoma de Barcelona
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 and in sporadic cases. [...]
2013 - 10.1002/mgg3.24
Molecular genetics & genomic medicine, Vol. 1 (july 2013) , p. 206-222
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