المؤلفون: Marie Rivera-Zengotita, Alison M. Barnard, Sanna Puusepp, Anna Łusakowska, Ros Quinlivan, Margherita Milone, Isabelle Draper, Katherine R. Chao, Erica L. Macke, Mait Nigul, Teepu Siddique, Vijay S. Ganesh, Sander Pajusalu, Nicolas Deconinck, Sanna Gudmundsson, Masashi Ogasawara, Sandra Donkervoort, Christine C. Bruels, Glenn A. Walter, Ehsan Ghayoor Karimiani, Christina A. Pacak, Reza Maroofian, Sabine Costagliola, Julia K. Goodrich, Anne H. O’Donnell-Luria, Mehran Beiraghi Toosi, Sandra Coppens, Yao Meng, Lynn Pais, Henry Houlden, Eleina M. England, Rasha El Sherif, Anne Boland-Auge, Bertold Schrank, Volker Straub, Gisèle Bonne, Catheline Vilain, Payam Mohassel, Tanya Stojkovic, Isabelle Nelson, Ichizo Nishino, Stefan Nicolau, Anna Kostera-Pruszczyk, Ben Weisburd, Jean-François Deleuze, Enzo Cohen, Michael G. Hanna, Hazim Kadhim, Peter B. Kang, Dorianmarie Vargas-Franco, Penny A. Handford, Katrin Õunap, Pilvi Ilves, Ana Töpf, Carsten G. Bönnemann, Brendan C. Lanpher, Eric W. Klee, Andreas Hahn

المصدر: The American Journal of Human Genetics
Am J Hum Genet

مصطلحات موضوعية: Male, Models, Molecular, 0301 basic medicine, Muscular Dystrophies, Myoblasts, Mice, 0302 clinical medicine, Drosophila Proteins, Muscular dystrophy, Child, Genetics (clinical), Genetics, Receptors, Notch, Myogenesis, Muscles, Middle Aged, Pedigree, Drosophila melanogaster, Phenotype, medicine.anatomical_structure, Glucosyltransferases, Child, Preschool, Female, Jagged-2 Protein, medicine.symptom, Signal Transduction, Adult, JAG2, JAG1, Adolescent, Notch signaling pathway, Biology, Article, Cell Line, Frameshift mutation, Young Adult, 03 medical and health sciences, Exome Sequencing, medicine, Animals, Humans, Amino Acid Sequence, Correction, Membrane Proteins, Muscle weakness, Skeletal muscle, medicine.disease, Human genetics, 030104 developmental biology, Haplotypes, Jagged-1 Protein, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de5cf77949f159f13e3db961570ab30bTest
https://doi.org/10.1016/j.ajhg.2021.03.020Test

المؤلفون: Catherine M. Brown, Molly L Paras, Lin H. Chen, Scott Hennigan, Cormac M. Kinsella, Sandra Smole, Daniel P. McQuillen, Ruta Shah, Anne Piantadosi, Matthew Osborne, Justin Chan, Samar B. Mehta, Pardis C. Sabeti, Vijay S. Ganesh, Frederic Halpern-Smith

المساهمون: Graduate School, AII - Infectious diseases

المصدر: Emerging Microbes & Infections
Emerging microbes and infections, 9(1), 903-912. Nature Publishing Group

مصطلحات موضوعية: Male, 0301 basic medicine, Epidemiology, encephalitis, Ochlerotatus, viruses, Disease Vectors, Serology, Drug Discovery, diagnostics, Prevalence, Vector (molecular biology), Phylogeny, Jamestown Canyon virus, biology, meningitis, virus diseases, General Medicine, Middle Aged, Infectious Diseases, Massachusetts, RNA, Viral, Original Article, Female, Meningitis, Encephalitis, Adult, medicine.medical_specialty, 030106 microbiology, Immunology, Encephalitis Virus, California, Genome, Viral, Mosquito Vectors, Microbiology, Arbovirus, 03 medical and health sciences, Virology, medicine, Animals, Humans, Aged, medicine.disease, biology.organism_classification, arbovirus, Culicidae, 030104 developmental biology, Parasitology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b20f54fe905845e2962babe0fffa2006Test
https://doi.org/10.1080/22221751.2020.1756697Test

المؤلفون: Hayden C. Metsky, Siavash Zamirpour, Tracey A. Cho, Christian B. Matranga, Gordon Adams, Jonathan Rosand, Matthew P. Frosch, Eric S. Rosenberg, Arjun Khanna, Anne Piantadosi, Sanjat Kanjilal, Tyler D. Bold, Lisa M. Freimark, Emily P. Hyle, Shibani S. Mukerji, Sam R. Telford, Graham McGrath, Jacob E. Lemieux, Vijay S. Ganesh, Marcia B. Goldberg, Michael J. Leone, Pardis C. Sabeti

المصدر: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America

مصطلحات موضوعية: Male, 0301 basic medicine, Microbiology (medical), encephalitis, viruses, 030106 microbiology, Genome, Viral, Rapid detection, Encephalitis Viruses, Tick-Borne, 03 medical and health sciences, metagenomic sequencing, medicine, Humans, Immunologic Factors, Powassan virus, biology, business.industry, Immunoglobulins, Intravenous, Middle Aged, medicine.disease, Powassan encephalitis, biology.organism_classification, Virology, 3. Good health, Flavivirus, 030104 developmental biology, Infectious Diseases, Metagenomics, Brief Reports, business, Encephalitis, Tick-Borne, Encephalitis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d307c75388dbad544b724cdeeda3015Test
https://doi.org/10.1093/cid/cix792Test

المؤلفون: Taehwan Shin, Connor J. Kenny, Grazia M.S. Mancini, Carsten G. Bönnemann, R. Sean Hill, Christopher A. Walsh, Eva Andermann, Martina Wilke, Anna-Kaisa Anttonen, Ryan N. Doan, Ritva Paetau, Kiho Im, Anna-Elina Lehesjoki, Marie Claire Y. de Wit, Ahram Jang, László Sztriha, Rebeca Borges-Monroy, A. James Barkovich, Oili Salonen, Dina Amrom, Maria K. Lehtinen, Annapurna Poduri, Livija Medne, Jaakko Ignatius, Jennifer N. Partlow, Jonathan L. Hecht, Allen Y. Chen, Richard S. Smith, Vijay S. Ganesh

المساهمون: Clinical Genetics, Neurology, Anna-Elina Lehesjoki / Principal Investigator, Department of Medical and Clinical Genetics, Neuroscience Center, Medicum, Research Programme for Molecular Neurology, Research Programs Unit, University of Helsinki, Clinicum, Department of Diagnostics and Therapeutics, HUS Medical Imaging Center, Children's Hospital, Lastenneurologian yksikkö

المصدر: Neuron, 99(5), 905-+. Cell Press
Neuron, vol 99, iss 5

مصطلحات موضوعية: Male, 0301 basic medicine, PERISYLVIAN POLYMICROGYRIA, Neurodegenerative, Ion Channels, Sodium Channels, 3124 Neurology and psychiatry, SCN3A, Cell Movement, Cortex (anatomy), NAV1.3 Voltage-Gated Sodium Channel, Polymicrogyria, 2.1 Biological and endogenous factors, Psychology, SCN1A, Aetiology, Child, NEURONS, EPILEPSY, Pediatric, Cerebral Cortex, Cultured, General Neuroscience, Outer Radial Glia, Cortical Development, Middle Aged, Na(V)1.3, Pedigree, Na(V)1.1, medicine.anatomical_structure, Neurological, Female, Cognitive Sciences, ALPHA-SUBUNIT, RADIAL GLIA, Adult, EXPRESSION, REVERSE NA+/CA2+ EXCHANGE, Adolescent, Cells, 1.1 Normal biological development and functioning, Subventricular zone, Biology, Language Development, Article, CONTRIBUTES, 03 medical and health sciences, Channelopathy, Underpinning research, medicine, Animals, Speech, Humans, Preschool, Oromotor, Epilepsy, Neurology & Neurosurgery, Sodium channel, Sodium, Ferrets, Neurosciences, 3112 Neurosciences, Infant, Voltage-Gated Sodium Channel, IN-VITRO, Perinatal Period - Conditions Originating in Perinatal Period, Stem Cell Research, medicine.disease, Perisylvian polymicrogyria, Megalencephaly, ta3124, Brain Disorders, NEURAL PROGENITORS, HEK293 Cells, 030104 developmental biology, NAV1, Neuroscience

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6650abc186a9dd259cef77d8521b9cfTest
https://pure.eur.nl/en/publications/f0512c72-5b9c-43cb-b5a8-7a5a09ef75f5Test

المؤلفون: Song Pang, Frank M. J. Jacobs, Michael E. Coulter, Raphael Gaudin, C. Shan Xu, Gerrald A Lodewijk, Ganeshwaran H. Mochida, Sarah Cianférani, Harald F. Hess, Wei-Chung Allen Lee, Christopher A. Walsh, Tomas Kirchhausen, Dilenny M. Gonzalez, Monica L. Calicchio, François Delalande, Edward Yang, Cristina M. Dorobantu, Richard S. Smith, Hart G.W. Lidov, David Haussler, Eric T. Wong, Vijay S. Ganesh, Maria K. Lehtinen, Elaine T. Lim, Thorsten M. Schlaeger

المساهمون: Molecular Neuroscience (SILS, FNWI), Equipe Direction scientifique, Sciences et Technologies de la Musique et du Son (STMS), Institut de Recherche et Coordination Acoustique/Musique (IRCAM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche et Coordination Acoustique/Musique (IRCAM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS), Département Sciences Analytiques et Interactions Ioniques et Biomoléculaires (DSA-IPHC), Institut Pluridisciplinaire Hubert Curien (IPHC), Université de Strasbourg (UNISTRA)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS), Computer Science and Artificial Intelligence Laboratory [Cambridge] (CSAIL), Massachusetts Institute of Technology (MIT), McMaster Univ, Med Phys & Appl Radiat Sci Dept, Hamilton, ON L8S 4K1, Canada, Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Harvard Medical School [Boston] (HMS), Center for Biomolecular Science and Engineering, University of California [Santa Cruz] (UCSC), University of California-University of California

المصدر: Cell reports, vol 24, iss 4
Cell reports
Cell Reports, 24(4), 973-986. Cell Press
Cell Reports
Cell Reports, Elsevier Inc, 2018, 24 (4), pp.973-986.e8. ⟨10.1016/j.celrep.2018.06.100⟩

مصطلحات موضوعية: 0301 basic medicine, [SDV]Life Sciences [q-bio], Medical Physiology, Vesicular Transport Proteins, Aucun, Mice, 0302 clinical medicine, microcephaly, Sonic hedgehog, Pediatric, biology, neurodevelopment, Chemistry, Brain, Cell biology, Stem Cell Research - Nonembryonic - Non-Human, Adult, Endosome, 1.1 Normal biological development and functioning, Pontocerebellar hypoplasia, CHMP1A, Sciences du Vivant [q-bio]/Médecine humaine et pathologie, Article, General Biochemistry, Genetics and Molecular Biology, ESCRT, multivesicular body, 03 medical and health sciences, Extracellular Vesicles, sonic hedgehog, Rare Diseases, Clinical Research, Underpinning research, medicine, Animals, Humans, Secretion, Hedgehog Proteins, Progenitor, Endosomal Sorting Complexes Required for Transport, Infant, Newborn, Neurosciences, Infant, medicine.disease, Newborn, Stem Cell Research, Brain Disorders, 030104 developmental biology, Choroid Plexus, biology.protein, NIH 3T3 Cells, Congenital Structural Anomalies, Biochemistry and Cell Biology, 030217 neurology & neurosurgery, RAB18, Biogenesis

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47d13408544f44c62adec62a2110dd84Test