|
1.
|
|
11 p, 709.0 KB |
Histone H3.3 beyond cancer : Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
/
Bryant, Laura (Children's Hospital of Philadelphia (Pennsilvània)) ;
Li, Dong (Children's Hospital of Philadelphia (Pennsilvània)) ;
Cox, Samuel G. (University of Southern California, CA 90033, USA) ;
Marchione, Dylan (Epigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA) ;
Joiner, Evan F. (Vagelos College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA) ;
Wilson, Khadija (Epigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA) ;
Janssen, Kevin (Epigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA) ;
Lee, Pearl (Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA) ;
March, Michael E. (Children's Hospital of Philadelphia (Pennsilvània)) ;
Nair, Divya (Children's Hospital of Philadelphia (Pennsilvània)) ;
Sherr, Elliott (Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA) ;
Fregeau, Brieana (Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA) ;
Wierenga, Klaas J. (Department of Clinical Genomics, Mayo Clinic Florida, Jacksonville, FL 32224, USA) ;
Wadley, Alexandrea (Department of Clinical Genomics, Mayo Clinic Florida, Jacksonville, FL 32224, USA) ;
Mancini, Grazia M. S. (Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, Netherlands) ;
Powell-Hamilton, Nina (Department of Medical Genetics, Alfred I. duPont Hospital for Children, Wilmington, DE 19810, USA) ;
van de Kamp, Jiddeke (Department of Clinical Genetics, VU Medical Center, Amsterdam, Netherlands) ;
Grebe, Theresa (Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ 85016, USA) ;
Dean, John (Department of Medical Genetics, Aberdeen Royal Infirmary, Aberdeen, Scotland, UK) ;
Ross, Alison (Department of Medical Genetics, Aberdeen Royal Infirmary, Aberdeen, Scotland, UK) ;
Crawford, Heather P. (Clinical and Metabolic Genetics, Cook Children's Medical Center, Fort Worth, TX 76104, USA) ;
Powis, Zoe (Department of Emerging Genetic Medicine, Ambry Genetics, Aliso Viejo, CA 92656, USA) ;
Cho, Megan T. (GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA) ;
Willing, Marcia C. (Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University in St. Louis, School of Medicine, St. Louis, MO 63110, USA) ;
Manwaring, Linda (Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University in St. Louis, School of Medicine, St. Louis, MO 63110, USA) ;
Schot, Rachel (Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, Netherlands) ;
Nava, Caroline (AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013 Paris, France) ;
Afenjar, Alexandra (Service de génétique, CRMR des malformations et maladies congénitales du cervelet et CRMR déficience intellectuelle, hôpital Trousseau, AP-HP, France) ;
Lessel, Davor (Undiagnosed Disease Program at the University Medical Center Hamburg-Eppendorf (UDP-UKE), Martinistrasse 52, 20246 Hamburg, Germany) ;
Wagner, Matias (Institut für Humangenetik, Technische Universität München, Munich, Germany) ;
Klopstock, Thomas (Munich Cluster for Systems Neurology, SyNergy, Munich, Germany) ;
Winkelmann, Juliane (Klinik und Poliklinik für Neurologie, Klinikum rechts der Isar, Technische Universität München, Munich, Germany) ;
Catarino, Claudia B. (Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians University, Ziemssenstr. 1a, 80336 Munich, Germany) ;
Retterer, Kyle (GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA) ;
Schuette, Jane L. (Division of Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI 48109, USA) ;
Innis, Jeffrey W. (Division of Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI 48109, USA) ;
Pizzino, Amy (Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19103, USA) ;
Lüttgen, Sabine (Department of Pediatrics, University Medical Center Eppendorf, 20246 Hamburg, Germany) ;
Denecke, Jonas (Department of Pediatrics, University Medical Center Eppendorf, 20246 Hamburg, Germany) ;
Strom, Tim M. (Institut für Humangenetik, Technische Universität München, Munich, Germany) ;
Monaghan, Kristin G. (GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA) ;
Yuan, Zuo-Fei (Epigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA) ;
Dubbs, Holly (Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19103, USA) ;
Bend, Renee (Greenwood Genetic Center, Greenwood, SC 29646, USA) ;
Lee, Jennifer A. (Greenwood Genetic Center, Greenwood, SC 29646, USA) ;
Lyons, Michael J. (Greenwood Genetic Center, Greenwood, SC 29646, USA) ;
Hoefele, Julia (Technische Universität München. Institut für Humangenetik) ;
Günthner, Roman (Technische Universität München. Institut für Humangenetik) ;
Reutter, Heiko (Department of Neonatology and Pediatric Intensive Care, Children's Hospital, University Hospital Bonn & Institute of Human Genetics, University Hospital Bonn, Bonn, Germany) ;
Keren, Boris (AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013 Paris, France) ;
Radtke, Kelly (Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA) ;
Sherbini, Omar (Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19103, USA) ;
Mrokse, Cameron (Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA) ;
Helbig, Katherine L. (Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA) ;
Odent, Sylvie (CHU Rennes, Service de Génétique Clinique, CNRS UMR6290, University Rennes1, Rennes, France) ;
Cogne, Benjamin (Université de Nantes) ;
Mercier, Sandra (Université de Nantes) ;
Bezieau, Stephane (Université de Nantes) ;
Besnard, Thomas (Université de Nantes) ;
Kury, Sebastien (Université de Nantes) ;
Redon, Richard (Université de Nantes) ;
Reinson, Karit (Institute of Clinical Medicine, University of Tartu, Tartu, Estonia) ;
Wojcik, Monica H. (Broad Institute, Cambridge, MA 02142, USA) ;
Õunap, Katrin (Institute of Clinical Medicine, University of Tartu, Tartu, Estonia) ;
Ilves, Pilvi (Tartu University Hospital (Tartu, Estònia)) ;
Innes, A. Micheil (Alberta Children's Hospital Research Institute) ;
Kernohan, Kristin D. (Newborn Screening Ontario (NSO), Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada) ;
Costain, Gregory (Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada) ;
Meyn, M. Stephen (The Center for Human Genomics and Precision Medicine, School of Medicine and Public Health, University of Wisconsin - Madison, Madison, Wisconsin 53705, USA) ;
Chitayat, David (The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto, Ontario, Canada) ;
Zackai, Elaine (Children's Hospital of Philadelphia (Pennsilvània)) ;
Lehman, Anna (Department of Medical Genetics, University of British Columbia, Vancouver, Canada) ;
Kitson, Hilary (Department of Pediatrics, University of British Columbia, Vancouver, Canada) ;
Martin, Martin G. (Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research and the David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA) ;
Martinez-Agosto, Julian A. (Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA) ;
Nelson, Stan F. (Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA) ;
Palmer, Christina G. S. (Institute for Society and Genetics, Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA) ;
Papp, Jeanette C. (Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA) ;
Parker, Neil H. (David Geffen School of Medicine, Los Angeles, CA 90095, USA) ;
Sinsheimer, Janet S. (Institute for Society and Genetics, Departments of Human Genetics, Biomathematics, and Biostatistics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA) ;
Vilain, Eric (Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC 20010, USA) ;
Wan, Jijun (Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA) ;
Yoon, Amanda J. (Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA) ;
Zheng, Allison (Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA) ;
Brimble, Elise (Department of Neurology and Neurological Sciences, Stanford Medicine, Stanford, CA 94305, USA) ;
Ferrero, Giovanni Battista (Department of Public Health and Pediatrics, University of Torino, Turin, Italy) ;
Radio, Francesca Clementina (Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy) ;
Carli, Diana (Department of Public Health and Pediatrics, University of Torino, Turin, Italy) ;
Barresi, Sabina (Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy) ;
Brusco, Alfredo (Department of Medical Sciences, University of Torino, Turin, Italy) ;
Tartaglia, Marco (Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy) ;
Thomas, Jennifer Muncy (Pediatrics and Neurology and Neurotherapeutics, UT Southwestern Medical Center, Dallas, TX 75390, USA) ;
Umana, Luis (Genetics and Metabolism, UT Southwestern Medical Center, Dallas, TX 75390, USA) ;
Weiss, Marjan M. (Department of Clinical Genetics, VU Medical Center, Amsterdam, Netherlands) ;
Gotway, Garrett (Genetics and Metabolism, UT Southwestern Medical Center, Dallas, TX 75390, USA) ;
Stuurman, K. E. (Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, Netherlands) ;
Thompson, Michelle L. (HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA) ;
McWalter, Kirsty (GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA) ;
Stumpel, Constance T. R. M. (Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands) ;
Stevens, Servi J. C. (Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands) ;
Stegmann, Alexander P. A. (Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands) ;
Tveten, Kristian (Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway) ;
Vøllo, Arve (Department of Pediatrics, Hospital of Østfold, 1714 Grålum, Norway) ;
Prescott, Trine (Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway) ;
Fagerberg, Christina (Odense University Hospital (Dinamarca)) ;
Laulund, Lone Walentin (Odense University Hospital (Dinamarca)) ;
Larsen, Martin J. (Odense University Hospital (Dinamarca)) ;
Byler, Melissa (SUNY Upstate Medical University, Syracuse, NY 13210, USA) ;
Lebel, Robert Roger (SUNY Upstate Medical University, Syracuse, NY 13210, USA) ;
Hurst, Anna C. (University of Alabama at Birmingham, Birmingham, AL 35294, USA) ;
Dean, Joy (University of Alabama at Birmingham, Birmingham, AL 35294, USA) ;
Schrier Vergano, Samantha A. (Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk VA 23507, USA) ;
Norman, Jennifer (INTEGRIS Pediatric Neurology, Oklahoma City, OK 73112, USA) ;
Mercimek-Andrews, Saadet (Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada) ;
Neira, Juanita (Department of Human Genetics, Emory University, Atlanta, GA 30322, USA) ;
Van Allen, Margot I. (Medical Genetics Programs, Provincial Health Shared Services BC and Vancouver Island Health Shared Services BC, Canada) ;
Longo, Nicola (Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT 84112, USA) ;
Sellars, Elizabeth (University of Arkansas for Medical Sciences, Little Rock, AR 72701, USA) ;
Louie, Raymond J. (Greenwood Genetic Center, Greenwood, SC 29646, USA) ;
Cathey, Sara S. (Greenwood Genetic Center, Greenwood, SC 29646, USA) ;
Brokamp, Elly (Vanderbilt University, Nashville, TN 37203, USA) ;
Heron, Delphine (AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013 Paris, France) ;
Snyder, Molly (Child Neurology, UT Southwestern Medical Center, Dallas, TX 75390, USA) ;
Vanderver, Adeline (Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19103, USA) ;
Simon, Celeste (Vagelos College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA) ;
de la Cruz, Xavier (Institució Catalana de Recerca i Estudis Avançats) ;
Padilla Sirera, Natàlia (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Crump, J. Gage (Department of Stem Cell Biology and Regenerative Medicine, Keck School of Medicine, University of Southern California, CA 90033, USA) ;
Chung, Wendy (Departments of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, NY 10032, USA) ;
Garcia, Benjamin (Epigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA) ;
Hakonarson, Hakon (Children's Hospital of Philadelphia (Pennsilvània)) ;
Bhoj, Elizabeth J. (Children's Hospital of Philadelphia (Pennsilvània)) ;
Universitat Autònoma de Barcelona
Germ line mutations in H3F3A and H3F3B cause a previously unidentified neurodevelopmental syndrome. Although somatic mutations in Histone 3. 3 (H3. 3) are well-studied drivers of oncogenesis, the role of germline mutations remains unreported. [...]
2020 -  10.1126/sciadv.abc9207
Science advances, Vol. 6 (december 2020)
|
|
|
3.
|
|
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
|
|
guest ::
email alert
or subscribe to the 
RSS feed.
