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: 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: Rachel Straussberg, Yin Yao Shugart, Vijay S. Ganesh, Lina Basel-Vanagaite, Robert Ravenscroft, Jean R. Goodman, Christopher A. Walsh, Volney L. Sheen, Ingrid E. Scheffer, James Barkovich, Adria Bodell, Robert Sean Hill, Timothy J. Cherry

المصدر: Braindevelopment. 26(5)

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Genetic Linkage, Filamins, Blotting, Western, Locus (genetics), Biology, Choristoma, Filamin, Ventriculoperitoneal Shunt, Lateral ventricles, Contractile Proteins, Epilepsy, Complex Partial, Developmental Neuroscience, Pregnancy, medicine, FLNA, Humans, Child, Gene, In Situ Hybridization, Fluorescence, Genetics, Reverse Transcriptase Polymerase Chain Reaction, Valproic Acid, Microfilament Proteins, Brain, Genetic Diseases, X-Linked, General Medicine, medicine.disease, Magnetic Resonance Imaging, Hydrocephalus, Xq28, Pedigree, Neuronal migration disorder, Child, Preschool, Pediatrics, Perinatology and Child Health, Mutation, Anticonvulsants, Female, Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4c85efc20c0f4d7db966f820e591eaeTest
https://pubmed.ncbi.nlm.nih.gov/15165674Test

المؤلفون: Sigrid Tinschert, Lihadh Al-Gazali, A. James Barkovich, Nadia Akawi, Vijay S. Ganesh, R. Sean Hill, Ganeshwaran H. Mochida, Wen-Hann Tan, Katie Rose Clapham, Muna Al-Saffar, Jillian M. Felie, Daniel P. Rakiec, Danielle Gleason, Christopher A. Walsh, Jennifer N. Partlow, Bassam R. Ali

المصدر: The American Journal of Human Genetics. (6):882-889

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, JAM3, Biology, Occludin, Cataract, Frameshift mutation, Tight Junctions, Ependyma, Report, medicine, Subependymal zone, Genetics, Humans, Genetics(clinical), Child, Genetics (clinical), Cerebral Hemorrhage, Tight junction, Homozygote, Infant, Newborn, Calcinosis, Infant, Anatomy, medicine.disease, Disease gene identification, Pedigree, Mutation, Congenital cataracts, Female, Cell Adhesion Molecules, Calcification

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d659377499ad740ed66920ecce69f2bTest

المؤلفون: J. Menasha, James Barkovich, Robert Sean Hill, Pierre Thomas, G. M. Hutchins, R. R. Vaid, Stephen P. Robertson, Y. Geng, Linda Nicholson, Karen W. Gripp, François Dubeau, Anna Jansen, Timothy R. Morgan, Vijay S. Ganesh, D. E. Ruiz, Kira Apse, F. Andermann, R. Ravenscroft, Christopher A. Walsh, Maurizio Viri, Yin Yao Shugart, James S. Wiley, T. Underwood, Elizabeth Berry-Kravis, Ming-Hui Chen, Pierangelo Veggiotti, Richard J. Leventer, Eva Andermann, Judith P. Willner, Renzo Guerrini, Volney L. Sheen, Adria Bodell, Elena Parrini

المساهمون: Public Health Care

المصدر: ResearcherID
Vrije Universiteit Brussel
Scopus-Elsevier

مصطلحات موضوعية: Adult, Male, Adolescent, Filamins, DNA Mutational Analysis, Mutation, Missense, periventricular heterotopia, Biology, Filamin, neuronal migration disorders, Contractile Proteins, medicine, Humans, Point Mutation, FLNA, Missense mutation, genetics, Child, Polymorphism, Single-Stranded Conformational, Sequence Deletion, Genetics, Chromosomes, Human, X, Epilepsy, Point mutation, Microfilament Proteins, Brain, Infant, Single-strand conformation polymorphism, Exons, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Pedigree, Xq28, Phenotype, Heterotopia (medicine), Amino Acid Substitution, Ehlers–Danlos syndrome, Female, Neurology (clinical), Ehlers-Danlos syndrome, Microsatellite Repeats

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4b9d17cd70269ab5f2b754997cbf342Test
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000226507200015&KeyUID=WOS:000226507200015Test