|
12.
|
|
12 p, 2.5 MB |
Unraveling the effect of silent, intronic and missense mutations on VWF splicing : contribution of next generation sequencing in the study of mRNA
/
Borràs, Nina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Orriols, Gerard (Institut d'Investigació Biomèdica Sant Pau) ;
Batlle, Javier (Complejo Hospitalario Universitario de A Coruña) ;
Pérez-Rodríguez, Almudena (Complejo Hospitalario Universitario de A Coruña) ;
Fidalgo, Teresa (Centro Hospitalar e Universitário de Coimbra (Coimbra, Portugal)) ;
Martinho, Patrícia (Centro Hospitalar e Universitário de Coimbra (Coimbra, Portugal)) ;
López-Fernández, María Fernanda (Complejo Hospitalario Universitario de A Coruña) ;
Rodríguez-Trillo, Ángela (Complejo Hospitalario Universitario de A Coruña) ;
Lourés, Esther (Complejo Hospitalario Universitario de A Coruña) ;
Parra, Rafael (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Altisent, Carmen (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Cid, Ana Rosa (Hospital Universitari i Politècnic La Fe (València)) ;
Bonanad, Santiago (Hospital Universitari i Politècnic La Fe (València)) ;
Cabrera, Noelia (Hospital Universitari i Politècnic La Fe (València)) ;
Moret, Andrés (Hospital Universitari i Politècnic La Fe (València)) ;
Mingot-Castellano, María Eva (Hospital Regional Universitario de Málaga) ;
Navarro, Nira (Hospital Universitario de Gran Canaria Dr. Negrín) ;
Pérez-Montes, Rocío (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ;
Marcellin, Sally (Salud Castilla y León, Segovia, Spain) ;
Moreto, Ana (Hospital Universitario de Cruces (Barakaldo, País Basc)) ;
Herrero, Sonia (Hospital Universitario de Guadalajara) ;
Soto, Inmaculada (Hospital Universitario Central de Asturias) ;
Fernández-Mosteirín, Núria (Hospital Universitario Miguel Servet (Saragossa)) ;
Jiménez-Yuste, Víctor (Hospital Universitario La Paz (Madrid)) ;
Alonso, Nieves (Complejo Hospitalario Infanta Cristina (Badajoz)) ;
de Andrés Jacob, Aurora (Complejo Hospitalario Universitario de Santiago de Compostela) ;
Fontanes, Emilia (Hospital Universitario Lucus Augusti (Lugo)) ;
Campos, Rosa (Hospital Universitario de Jerez (Jerez de la Frontera)) ;
Paloma, María José (Hospital Virgen del Camino (Pamplona)) ;
Bermejo, Nuria (Hospital San Pedro de Alcántara) ;
Berrueco, Rubén (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Mateo, José (Institut d'Investigació Biomèdica Sant Pau) ;
Arribalzaga, Karmele (Hospital Universitario Fundación Alcorcón) ;
Marco, Pascual (Hospital General Universitario de Alicante (Alacant, País Valencià)) ;
Palomo Bravo, Ángeles (Hospital Regional Universitario Carlos Haya (Málaga)) ;
Quismondo, Nerea Castro (Hospital Universitario 12 de Octubre (Madrid)) ;
Iñigo, Belén (Hospital Clínico San Carlos (Madrid)) ;
Nieto Hernández, Maria del Mar (Complejo Hospitalario de Jaén) ;
Vidal, Rosa (Hospital Universitario Fundación Jiménez Díaz) ;
Martínez, María Paz (Hospital Nuestra Señora de Sonsoles (Àvila)) ;
Aguinaco, Reyes (Hospital Universitari Joan XXIII de Tarragona) ;
Tenorio, Jesús María (Hospital Montecelo de Pontevedra) ;
Ferreiro, María (Hospital Montecelo de Pontevedra) ;
García-Frade, Javier (Hospital Universitario Río Hortega (Valladolid)) ;
Rodríguez-Huerta, Ana María (Hospital General Universitario Gregorio Marañón) ;
Cuesta, Jorge (Hospital Virgen de la Salud (Toledo)) ;
Rodríguez-González, Ramón (Hospital Universitario Severo Ochoa) ;
García-Candel, Faustino (Hospital Universitario Virgen de la Arrixaca (Múrcia)) ;
Dobón, Manuela (Hospital Clínico Universitario "Lozano Blesa" de Zaragoza) ;
Aguilar Franco, Carlos (Hospital Santa Bárbara (Soria)) ;
Vidal, Francisco (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Corrales Insa, Irene (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Universitat Autònoma de Barcelona
Large studies in von Willebrand disease patients, including Spanish and Portuguese registries, led to the identification of >250 different mutations. It is a challenge to determine the pathogenic effect of potential splice site mutations on VWF mRNA. [...]
2019 -  10.3324/haematol.2018.203166
Haematologica, Vol. 104 (march 2019) , p. 587-598
|
|
|
13.
|
|
16 p, 3.4 MB |
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
/
Salpietro, Vincenzo (Department of Neurosciences. Rehabilitation. Ophthalmology. Genetics. Maternal and Child Health. University of Genoa) ;
Dixon, Christine L. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ;
Guo, Hui (Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics. School of Life Sciences. Central South University) ;
Bello, Oscar D. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ;
Vandrovcova, Jana (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Efthymiou, Stephanie (University College London) ;
Maroofian, Reza (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Heimer, Gali (Pediatric Neurology Unit. Safra Children's Hospital. Sheba Medical Center and Sackler Faculty of Medicine. Tel Aviv University) ;
Burglen, Lydie (Centre de Référence des Malformations et Maladies Congénitales du Cervelet. Département de Génétique et Embryologie Médicale. APHP. Hôpital Trousseau) ;
Valence, Stephanie (Centre de Référence des Malformations et Maladies Congénitales du Cervelet. Service de Neurologie Pédiatrique. APHP. Hôpital Trousseau) ;
Torti, Erin (GeneDx) ;
Hacke, Moritz (Biochemistry Center. Heidelberg University) ;
Rankin, Julia (Royal Devon and Exeter NHS Foundation Trust) ;
Tariq, Huma (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Colin, Estelle (MitoLab. UMR CNRS 6015-INSERM U1083. MitoVasc Institute. Angers University) ;
Procaccio, Vincent (MitoLab. UMR CNRS 6015-INSERM U1083. MitoVasc Institute. Angers University) ;
Striano, Pasquale (Department of Neurosciences. Rehabilitation. Ophthalmology. Genetics. Maternal and Child Health. University of Genoa) ;
Mankad, Kshitij (Great Ormond Street Hospital for Children (Londres)) ;
Lieb, Andreas (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ;
Chen, Sharon (Division of Medical Genetics. Northwell Health/Hofstra University SOM) ;
Pisani, Laura (Division of Medical Genetics. Northwell Health/Hofstra University SOM) ;
Bettencourt, Conceição (UCL Institute of Neurology (Regne Unit)) ;
Männikkö, Roope (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Manole, Andreea (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Brusco, Alfredo (Department of Medical Sciences. Medical Genetics Unit. University of Torino) ;
Grosso, Enrico (Department of Medical Sciences. Medical Genetics Unit. University of Torino) ;
Ferrero, Giovanni Battista (Department of Public Health and Pediatrics. University of Torino) ;
Armstrong, Judith (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Gueden, Sophie (Unit of Neuropediatrics. University Hospital) ;
Bar-Yosef, Omer (Pediatric Neurology Unit. Safra Children's Hospital. Sheba Medical Center and Sackler Faculty of Medicine. Tel Aviv University) ;
Tzadok, Michal (Pediatric Neurology Unit. Safra Children's Hospital. Sheba Medical Center and Sackler Faculty of Medicine. Tel Aviv University) ;
Monaghan, Kristin G. (GeneDx) ;
Santiago-Sim, Teresa (GeneDx) ;
Person, Richard E. (GeneDx) ;
Cho, Megan T. (GeneDx) ;
Willaert, Rebecca (GeneDx) ;
Yoo, Kristin (Department of Biomedical Sciences. Seoul National University) ;
Chae, Jong-Hee (Department of Pediatrics. Seoul National University) ;
Quan, Yingting (Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics. School of Life Sciences. Central South University) ;
Wu, Huidan (Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics. School of Life Sciences. Central South University) ;
Wang, Tianyun (Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics. School of Life Sciences. Central South University) ;
Bernier, Raphael A. (Department of Psychiatry. University of Washington) ;
Xia, Kun (Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics. School of Life Sciences. Central South University) ;
Blesson, Alyssa (Center for Autism and Related Disorders. Kennedy Krieger Institute) ;
Jain, Mahim (Center for Autism and Related Disorders. Kennedy Krieger Institute) ;
Motazacker, Mohammad M. (Department of Clinical Genetics. University of Amsterdam) ;
Jaeger, Bregje (Department of Pediatric Neurology. Amsterdam UMC) ;
Schneider, Amy L. (Epilepsy Research Centre. Department of Medicine. University of Melbourne. Austin Health) ;
Boysen, Katja (Epilepsy Research Centre. Department of Medicine. University of Melbourne. Austin Health) ;
Muir, Alison M. (Department of Pediatrics. University of Washington) ;
Myers, Candance T. (Department of Pediatrics. Division of Genetic Medicine. University of Washington) ;
Gavrilova, Ralitza H. (Department of Clinical Genomics. Mayo Clinic) ;
Gunderson, Lauren (Department of Clinical Genomics. Mayo Clinic) ;
Schultz-Rogers, Laura (Department of Clinical Genomics. Mayo Clinic) ;
Klee, Eric W. (Department of Clinical Genomics. Mayo Clinic) ;
Dyment, David (Children's Hospital of Eastern Ontario Research Institute. University of Ottawa) ;
Osmond, Matthew (Genome Québec Innovation Center) ;
Parellada, Mara (Hospital General Universitario Gregorio Marañón) ;
Llorente, Cloe (Hospital General Universitario Gregorio Marañón) ;
González-Peñas, Javier (Hospital General Universitario Gregorio Marañón) ;
Carracedo, Ángel (Fundación Pública Galega de Medicina Xenómica) ;
Van Haeringen, Arie (Department of Clinical Genetics. Leiden University Medical Center) ;
Ruivenkamp, Claudia (Department of Clinical Genetics. Leiden University Medical Center) ;
Nava, Caroline (Department of Genetics. Assistance Publique - Hôpitaux de Paris. University Hôpital Pitié-Salpêtrière) ;
Heron, Delphine (Department of Genetics. Assistance Publique - Hôpitaux de Paris. University Hôpital Pitié-Salpêtrière) ;
Nardello, Rosaria (Department of Health Promotion,Mother and Child Care. Internal Medicine and Medical Specialities "G. D'Alessandro". University of Palermo) ;
Iacomino, Michele (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ;
Minetti, Carlo (Department of Neurosciences. Rehabilitation. Ophthalmology. Genetics. Maternal and Child Health. University of Genoa) ;
Skabar, Aldo (Institute for Maternal and Child Health. IRCCS "Burlo Garofolo". University of Trieste) ;
Fabretto, Antonella (Institute for Maternal and Child Health. IRCCS "Burlo Garofolo". University of Trieste) ;
Hanna, Michael (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Bugiardini, Enrico (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Hostettler, Isabel Charlotte (UCL Queen Square Institute of Neurology (Regne Unit)) ;
O'Callaghan, Benjamin (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Khan, Alaa (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Cortese, Andrea (UCL Queen Square Institute of Neurology (Regne Unit)) ;
O'Connor, Emer (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Yau, Wai Y. (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Bourinaris, Thomas (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Kaiyrzhanov, Rauan (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Chelban, Viorica (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Madej, Monika (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Diana, Maria C. (Pediatric Neurology and Muscular Diseases Unit. IRCCS Istituto "Giannina Gaslini") ;
Vari, Maria S. (Pediatric Neurology and Muscular Diseases Unit. IRCCS Istituto "Giannina Gaslini") ;
Pedemonte, Marina (Pediatric Neurology and Muscular Diseases Unit. IRCCS Istituto "Giannina Gaslini") ;
Bruno, Claudio (Pediatric Neurology and Muscular Diseases Unit. IRCCS Istituto "Giannina Gaslini") ;
Balagura, Ganna (University of Genoa. Department of Neurosciences) ;
Scala, Marcello (University of Genoa. Department of Neurosciences) ;
Fiorillo, Chiara (University of Genoa. Department of Neurosciences) ;
Nobili, Lino (University of Genoa. Department of Neurosciences) ;
Malintan, Nancy T. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ;
Zanetti, Maria N. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ;
Krishnakumar, Shyam S. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ;
Lignani, Gabriele (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ;
Jepson, James E. C. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ;
Broda, Paolo (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ;
Baldassari, Simona (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ;
Rossi, Pia (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ;
Fruscione, Floriana (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ;
Madia, Francesca (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ;
Traverso, Monica (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ;
De-Marco, Patrizia (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, Yamna (Children's Hospital of Rabat. University of Rabat) ;
El-Khorassani, Mohamed (Children's Hospital of Rabat. University of Rabat) ;
Karashova, Blagovesta (Department of Paediatrics. Medical University of Sofia) ;
Avdjieva, Daniela (Department of Paediatrics. Medical University of Sofia) ;
Kathom, Hadil (Department of Paediatrics. Medical University of Sofia) ;
Tincheva, Radka (Department of Paediatrics. Medical University of Sofia) ;
Van-Maldergem, Lionel (Centre of Human Genetics. University Hospital Liege) ;
Nachbauer, Wolfgang (Department of Neurology. Medical University Innsbruck) ;
Boesch, Sylvia (Department of Neurology. Medical University Innsbruck) ;
Gagliano, Antonella (Ospedale Pediatrico "A. Cao". Department of Biomedical Sciences. University of Cagliari) ;
Amadori, Elisabetta (Child and Adolescent Neuropsychiatry. University of Campania "Luigi Vanvitelli") ;
Goraya, Jatinder S. (Division of Paediatric Neurology. Dayanand Medical College & Hospital) ;
Sultan, Tipu (Department of Paediatric Neurology. Children's Hospital of Lahore) ;
Kirmani, Salman (Department of Medical Genetics. Aga Khan University Hospital. Karachi) ;
Ibrahim, Shahnaz (Department of Paediatric Neurology. Aga Khan University Hospital. Karachi) ;
Jan, Farida (Department of Paediatric Neurology. Aga Khan University Hospital. Karachi) ;
Mine, Jun (Department of Pediatrics. Shimane University School of Medicine) ;
Banu, Selina (Institute of Child Health and Shishu Shastho Foundation Hospital) ;
Veggiotti, Pierangelo (Vittore Buzzi Children's Hospital) ;
Zuccotti, Gian V. (Vittore Buzzi Children's Hospital) ;
Ferrari, Michel D.. (Leiden University Medical Center) ;
Van Den Maagdenberg, Arn M. J. (Leiden University Medical Center) ;
Verrotti, Alberto (Paediatric Department. San Salvatore Hospital. University of L'Aquila) ;
Marseglia, Gian Luigi (Department of Pediatrics. University of Pavia. IRCCS Policlinico "San Matteo") ;
Savasta, Salvatore (Department of Pediatrics. University of Pavia. IRCCS Policlinico "San Matteo") ;
Soler, Miguel A. (Computational Modelling of Nanoscale and Biophysical systems Laboratory. Italian Institute of Technology) ;
Scuderi, Carmela (Laboratorio di Neuropatologia Clinica. U.O.S. Malattie. Neuromuscolari Associazione OASI Maria SS. ONLUS - IRCCS) ;
Borgione, Eugenia (Laboratorio di Neuropatologia Clinica. U.O.S. Malattie. Neuromuscolari Associazione OASI Maria SS. ONLUS - IRCCS) ;
Chimenz, Roberto (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ;
Gitto, Eloisa (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ;
Dipasquale, Valeria (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ;
Sallemi, Alessia (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ;
Fusco, Monica (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ;
Cuppari, Caterina (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ;
Cutrupi, Maria C. (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ;
Ruggieri, Martino (Department of Clinical and Experimental Medicine. Section of Pediatrics and Child Neuropsychiatry. University of Catania) ;
Cama, Armando (Department of Neurosurgery. IRCCS Istituto Giannina Gaslini) ;
Capra, Valeria (Department of Neurosurgery. IRCCS Istituto Giannina Gaslini) ;
Mencacci, Niccolò Emanuele (Department of Neurology. Northwestern University Feinberg School of Medicine) ;
Boles, Richard (Courtagen Life Sciences) ;
Gupta, Neerja (All India Institute of Medical Sciences (Nova Delhi, Índia)) ;
Kabra, Madhulika (All India Institute of Medical Sciences (Nova Delhi, Índia)) ;
Papacostas, Savvas (The Cyprus Institute of Neurology and Genetics) ;
Zamba-Papanicolaou, Eleni (The Cyprus Institute of Neurology and Genetics) ;
Dardiotis, Efthimios (General University Hospital of Larissa (Grècia)) ;
Maqbool, Shazia (Department of Developmental and Behavioral Pediatrics. Children Hospital Complex and Institute of Child Health) ;
Rana, Nuzhat (Department of Pediatric Neurology. Children Hospital Complex and Institute of Child Health) ;
Atawneh, Osama (Hilal Pediatric Hospital Hebron. Hebron. West Bank) ;
Lim, Shen Y. (Department of Biomedical Science. Faculty of Medicine. University of Malaysia) ;
Shaikh, Mohmad Farooq (Jeffrey Cheah School of Medicine and Health Sciences. Monash University Malaysia) ;
Koutsis, George (Neurogenetics Unit. Neurology Department. Eginition Hospital. National and Kapodistrian University) ;
Breza, Marianthi (Neurogenetics Unit. Neurology Department. Eginition Hospital. National and Kapodistrian University) ;
Coviello, Domenico (Laboratorio di Genetica Umana. IRCCS Istituto Giannina Gaslini) ;
Dauvilliers, Yves (University Hospital of Montpellier (França)) ;
AlKhawaja, Issam (Albashir University Hospital) ;
AlKhawaja, Mariam (Prince Hamzah Hospital. Ministry of Health) ;
Al-Mutairi, Fuad (King Saud University) ;
Stojkovic, Tanya (Institute of Myology. Hôpital La Pitié Salpêtrière) ;
Ferrucci, Veronica (CEINGE. Biotecnologie Avanzate S.c.a.rl.) ;
Zollo, Massimo (CEINGE. Biotecnologie Avanzate S.c.a.rl.) ;
Alkuraya, Fowzan S (King Faisal Specialist Hospital and Research Centre (Aràbia Saudita)) ;
Kinali, Maria (The Portland Hospital) ;
Sherifa, Hamed (Assiut University Hospital) ;
Benrhouma, Hanene (Research Unit UR12 SP24. Department of Child and Adolescent Neurology. National Institute Mongi Ben Hmida of Neurology) ;
Turki, Ilhem B. Y. (Research Unit UR12 SP24. Department of Child and Adolescent Neurology. National Institute Mongi Ben Hmida of Neurology) ;
Tazir, Meriem (Laboratoire de Recherche en Neurosciences. Service de Neurologie) ;
Obeid, Makram (Department of Anatomy. Cell Biology and Physiology. American University of Beirut Medical Center) ;
Bakhtadze, Sophia (Department of Child Neurology. Tbilisi State Medical University) ;
Saadi, Marianthi W. (Baghdad College of Medicine. Children Welfare Teaching Hospital) ;
Zaki, Maha (Human Genetics and Genome Research Division. National Research Centre) ;
Triki, Chahnez C. (Child Neurology Department. Hedi Chaker hospital- Sfax Tunisia) ;
Benfenati, Fabio (Istituto Italiano di Tecnologia) ;
Gustincich, Stefano (Istituto Italiano di Tecnologia) ;
Kara, Majdi (Paediatric Neurology Unit. Department of Pediatrics. University of Tripoli) ;
Belcastro, Vincenzo (Neurology Unit. S. Anna Hospital) ;
Specchio, Nicola (Ospedale Pediatrico Bambino Gesù (Roma, Itàlia)) ;
Capovilla, Giuseppe (Child Neuropsychiatry Department. Epilepsy Center. C. Poma Hospital) ;
Karimiani, Ehsan G. (Genetics Research Centre. Molecular and Clinical Sciences Institute. St George's. University of London. Cranmer Terrace) ;
Salih, Ahmed M. (Medical University of Duhok) ;
Okubadejo, Njideka (College of Medicine. University of Lagos (CMUL) & Lagos University Teaching Hospital) ;
Ojo, Oluwadamilola (College of Medicine. University of Lagos (CMUL) & Lagos University Teaching Hospital) ;
Oshinaike, Olajumoke O. (College of Medicine. University of Lagos (CMUL) & Lagos University Teaching Hospital) ;
Oguntunde, Olapeju (College of Medicine. University of Lagos (CMUL) & Lagos University Teaching Hospital) ;
Wahab, Kolawole Wasiu (University of Ilorin Teaching Hospital (UITH)) ;
Bello, Abiodun H. (University of Ilorin Teaching Hospital (UITH)) ;
Abubakar, Sanni (Ahmadu Bello University) ;
Obiabo, Yahaya (Delta State University Teaching Hospital) ;
Nwazor, Ernest (Federal Medical Centre) ;
Ekenze, Oluchi (University of Nigeria Teaching Hospital) ;
Williams, Uduak (University of Calabar Teaching Hospital) ;
Iyagba, Alagoma (University of Port Harcourt Teaching Hospital) ;
Taiwo, Lolade (Babcock University. Ilishan. Remo & Federal Medical Centre) ;
Komolafe, Morenikeji (Obafemi Awolowo University Teaching Hospital (OAUTH)) ;
Senkevich, Konstantin (Pavlov First Saint Petersburg State Medical University) ;
Shashkin, Chingiz (Kazakh National State University) ;
Zharkynbekova, Nazira (Shymkent Medical Academy) ;
Koneyev, Kairgali (Kazakh National State University) ;
Manizha, Ganieva (Avicenna Tajik State Medical University) ;
Isrofilov, Maksud (Avicenna Tajik State Medical University) ;
Guliyeva, Ulviyya (Mediclub clinic) ;
Salayev, Kamran (Azerbaijan State Medical University) ;
Khachatryan, Samson G. ("Somnus" Neurology Clinic Sleep and Movement Disorders Center) ;
Rossi, Salvatore (Department of Neurology. Università Cattolica del Sacro Cuore) ;
Silvestri, Gabriella (Department of Neurology. Università Cattolica del Sacro Cuore) ;
Haridy, Nourelhoda A. (Department of Neurology and Psychiatry. Assuit University Hospital) ;
Ramenghi, Luca A. (Neonatal Intensive Care Unit. Istituto Giannina Gaslini) ;
Xiromerisiou, Georgia (Department of Neurology. Medical School. University of Thessaly) ;
David, Emanuele (Radiology Unit. Papardo Hospital. Viale Ferdinando Stagno d'Alcontres. Contrada Papardo) ;
Aguennouz, M'hammed (Unit of Neurology and Neuromuscular Diseases. Department of Clinical and Experimental Medicine. University of Messina) ;
Fidani, Lliana (Department of Biology. Medical School. Aristotle University) ;
Spanaki, Cleanthe (Department of Neurology. Medical School. University of Crete) ;
Tucci, Arianna (William Harvey Research Institute. The NIHR Biomedical Research Centre at Barts. Queen Mary University London) ;
Raspall-Chaure, Miquel (Hospital Universitari Vall d'Hebron) ;
Chez, Michael (Neuroscience Medical Group. 1625 Stockton Boulevard. Suite 104) ;
Tsai, Anne (Department of Genetics and Inherited Metabolic diseases. Children's Hospital Colorado) ;
Fassi, Emily (Department of Pediatrics. Washington University School of Medicine) ;
Shinawi, Marwan (Department of Pediatrics. Washington University School of Medicine) ;
Constantino, John N. (William Greenleaf Eliot Division of Child & Adolescent Psychiatry. Department of Psychiatry. Washington University School of Medicine) ;
De Zorzi, Rita (Department of Chemical and Pharmaceutical Sciences. University of Trieste) ;
Fortuna, Sara (Department of Chemical and Pharmaceutical Sciences. University of Trieste) ;
Kok, Fernando (Mendelics Genomic Analysis) ;
Keren, Boris (Department of Genetics. Assistance Publique - Hôpitaux de Paris. University Hôpital Pitié-Salpêtrière) ;
Bonneau, Dominique (MitoLab. UMR CNRS 6015-INSERM U1083. MitoVasc Institute. Angers University) ;
Choi, Murim (Department of Biomedical Sciences. Seoul National University) ;
Benzeev, Bruria (Pediatric Neurology Unit. Safra Children's Hospital. Sheba Medical Center and Sackler Faculty of Medicine. Tel Aviv University) ;
Zara, Federico (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ;
Mefford, Heather C. (Department of Pediatrics. University of Washington) ;
Scheffer, Ingrid E. (Epilepsy Research Centre. Department of Medicine. University of Melbourne. Austin Health) ;
Clayton-Smith, Jill (Division of Evolution and Genomic Sciences. School of Biological Sciences. University of Manchester) ;
Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron) ;
Rothman, James E. (Department of Cell Biology. Yale University School of Medicine) ;
Eichler, Evan E (Howard Hughes Medical Institute. University of Washington) ;
Kullmann, Dimitri M. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ;
Houlden, Henry (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
|
|
|
16.
|
|
10 p, 828.8 KB |
Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES) : comprehensive genetic analysis by next-generation sequencing of 480 patients
/
Borràs, Nina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Batlle, Javier (Complejo Hospitalario Universitario de A Coruña) ;
Pérez-Rodríguez, Almudena (Complejo Hospitalario Universitario de A Coruña) ;
López-Fernández, María Fernanda (Complejo Hospitalario Universitario de A Coruña) ;
Rodríguez-Trillo, Ángela (Complejo Hospitalario Universitario de A Coruña) ;
Lourés, Esther (Complejo Hospitalario Universitario de A Coruña) ;
Cid, Ana Rosa (Hospital Universitari i Politècnic La Fe (València)) ;
Bonanad, Santiago (Hospital Universitari i Politècnic La Fe (València)) ;
Cabrera, Noelia (Hospital Universitari i Politècnic La Fe (València)) ;
Moret, Andrés (Hospital Universitari i Politècnic La Fe (València)) ;
Parra, Rafael (Hospital Universitari Vall d'Hebron) ;
Mingot-Castellano, María Eva (Hospital Regional Universitario de Málaga) ;
Balda, Ignacia (Hospital Universitario de Gran Canaria Dr. Negrín) ;
Altisent, Carmen (Hospital Universitari Vall d'Hebron) ;
Pérez-Montes, Rocío (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ;
Fisac, Rosa María (Salud Castilla y León, Segovia, Spain) ;
Iruín, Gemma (Hospital Universitario de Cruces (Barakaldo, País Basc)) ;
Herrero, Sonia (Hospital Universitario de Guadalajara) ;
Soto, Inmaculada (Hospital Universitario Central de Asturias) ;
de Rueda, Beatriz (Hospital Universitario Miguel Servet (Saragossa)) ;
Jiménez-Yuste, Víctor (Hospital Universitario La Paz (Madrid)) ;
Alonso, Nieves (Complejo Hospitalario Infanta Cristina (Badajoz)) ;
Vilariño, Dolores (Complejo Hospitalario Universitario de Santiago de Compostela) ;
Arija, Olga (Hospital Universitario Lucus Augusti (Lugo)) ;
Campos, Rosa (Hospital Universitario de Jerez (Jerez de la Frontera)) ;
Paloma, María José (Hospital Virgen del Camino (Pamplona)) ;
Bermejo, Nuria (Hospital San Pedro de Alcántara) ;
Berrueco, Rubén (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Mateo, José (Institut d'Investigació Biomèdica Sant Pau) ;
Arribalzaga, Karmele (Hospital Universitario Fundación Alcorcón) ;
Marco, Pascual (Hospital General Universitario de Alicante (Alacant, País Valencià)) ;
Palomo Bravo, Ángeles (Hospital Regional Universitario de Málaga) ;
Sarmiento, Lizheidy (Hospital Universitario 12 de Octubre (Madrid)) ;
Iñigo, Belén (Hospital Clínico San Carlos (Madrid)) ;
Nieto Hernández, Maria del Mar (Complejo Hospitalario de Jaén) ;
Vidal, Rosa (Hospital Universitario Fundación Jiménez Díaz) ;
Martínez, María Paz (Hospital Nuestra Señora de Sonsoles (Àvila)) ;
Aguinaco, Reyes (Hospital Universitari Joan XXIII de Tarragona) ;
César, Jesús María (Hospital Universitario Ramón y Cajal (Madrid)) ;
Ferreiro, María (Hospital Montecelo de Pontevedra) ;
García-Frade, Javier (Hospital Universitario Río Hortega (Valladolid)) ;
Rodríguez-Huerta, Ana María (Hospital General Universitario Gregorio Marañón) ;
Cuesta, Jorge (Hospital Virgen de la Salud (Toledo)) ;
Rodríguez-González, Ramón (Hospital Universitario Severo Ochoa) ;
García-Candel, Faustino (Hospital Clínico Universitario Virgen de la Arrixaca (El Palmar, Múrcia)) ;
Cornudella, Rosa (Hospital Clínico Universitario "Lozano Blesa" de Zaragoza) ;
Aguilar Franco, Carlos (Hospital Santa Bárbara (Soria)) ;
Vidal, Francisco (Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares) ;
Corrales Insa, Irene (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Universitat Autònoma de Barcelona
Molecular diagnosis of patients with von Willebrand disease is pending in most populations due to the complexity and high cost of conventional molecular analyses. The need for molecular and clinical characterization of von Willebrand disease in Spain prompted the creation of a multicenter project (PCM-EVW-ES) that resulted in the largest prospective cohort study of patients with all types of von Willebrand disease. [...]
2017 - 10.3324/haematol.2017.168765
Haematologica, Vol. 102 (december 2017) , p. 2005-2014
|
|
guest ::
email alert
or subscribe to the 
RSS feed.
