المؤلفون: Patricia Cogram, Robert M. J. Deacon, Jennifer L. Warner-Schmidt, Melanie J. von Schimmelmann, Brett S. Abrahams, Matthew J. During

المصدر: Frontiers in Behavioral Neuroscience, Vol 13 (2019)

مصطلحات موضوعية: FMRP, GABA, THIP, OV101, hyperactivity, anxiety, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/article/10.3389/fnbeh.2019.00141/fullTest; https://doaj.org/toc/1662-5153Test

الوصول الحر: https://doaj.org/article/5557ad91553a46b1a65dbc4a6e653b6aTest

المؤلفون: Rebecca A Nebel, Dejian Zhao, Erika Pedrosa, Jill Kirschen, Herbert M Lachman, Deyou Zheng, Brett S Abrahams

المصدر: PLoS ONE, Vol 11, Iss 1, p e0148039 (2016)

مصطلحات موضوعية: Medicine, Science

العلاقة: http://europepmc.org/articles/PMC4732616?pdf=renderTest; https://doaj.org/toc/1932-6203Test; https://doaj.org/article/55bea247348547548938efc73f97c021Test

الإتاحة: https://doi.org/10.1371/journal.pone.0148039Test
https://doaj.org/article/55bea247348547548938efc73f97c021Test

المؤلفون: Young Jae Woo, Tao Wang, Tulio Guadalupe, Rebecca A Nebel, Arianna Vino, Victor A Del Bene, Sophie Molholm, Lars A Ross, Marcel P Zwiers, Simon E Fisher, John J Foxe, Brett S Abrahams

المصدر: PLoS ONE, Vol 11, Iss 6, p e0158036 (2016)

مصطلحات موضوعية: Medicine, Science

العلاقة: http://europepmc.org/articles/PMC4924813?pdf=renderTest; https://doaj.org/toc/1932-6203Test; https://doaj.org/article/2cac800771ee4b4bbb79ea52f221d183Test

الإتاحة: https://doi.org/10.1371/journal.pone.0158036Test
https://doaj.org/article/2cac800771ee4b4bbb79ea52f221d183Test

المؤلفون: Levi Barse, Kazuhiro Yamakawa, Brett S. Abrahams, Manuel Jurado, Toshiya Nishi, Tetsuya Tatsukawa, Jennifer A. Kearney, Tyler T Thaxton, Maki Miyamoto, Nicole A. Hawkins, Matthew J. During, Samantha E Duarte, Shinichi Kondo

المصدر: Epilepsia. 62(11)

مصطلحات موضوعية: medicine.medical_specialty, Pyridines, Epilepsies, Myoclonic, Electroencephalography, Seizures, Febrile, Epilepsy, chemistry.chemical_compound, Mice, Dravet syndrome, Piperidines, Seizures, Internal medicine, medicine, Cholesterol 24-Hydroxylase, Animals, Cholesterol 24-hydroxylase, Sudden Unexpected Death in Epilepsy, medicine.diagnostic_test, business.industry, Cholesterol, Mortality, Premature, Sudden unexplained death, medicine.disease, Phenotype, NAV1.1 Voltage-Gated Sodium Channel, Premature death, Endocrinology, Neurology, chemistry, Mutation, Neurology (clinical), business, Epileptic Syndromes

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89c4b2a2f53c8db23f7d6f0e42f46babTest
https://pubmed.ncbi.nlm.nih.gov/34510432Test

المؤلفون: Rebecca A Nebel, Jill Kirschen, Jinlu Cai, Young Jae Woo, Koshi Cherian, Brett S Abrahams

المصدر: PLoS ONE, Vol 10, Iss 6, p e0129270 (2015)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC4468215?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/ac99d5d4cd714fafb7cc216885865f9bTest

المؤلفون: Esther R Berko, Masako Suzuki, Faygel Beren, Christophe Lemetre, Christine M Alaimo, R Brent Calder, Karen Ballaban-Gil, Batya Gounder, Kaylee Kampf, Jill Kirschen, Shahina B Maqbool, Zeineen Momin, David M Reynolds, Natalie Russo, Lisa Shulman, Edyta Stasiek, Jessica Tozour, Maria Valicenti-McDermott, Shenglong Wang, Brett S Abrahams, Joseph Hargitai, Dov Inbar, Zhengdong Zhang, Joseph D Buxbaum, Sophie Molholm, John J Foxe, Robert W Marion, Adam Auton, John M Greally

المصدر: PLoS Genetics, Vol 10, Iss 5, p e1004402 (2014)

مصطلحات موضوعية: Genetics, QH426-470

العلاقة: http://europepmc.org/articles/PMC4038484?pdf=renderTest; https://doaj.org/toc/1553-7390Test; https://doaj.org/toc/1553-7404Test; https://doaj.org/article/a803dd8795744243ae732bdcac7b9739Test

الإتاحة: https://doi.org/10.1371/journal.pgen.1004402Test
https://doaj.org/article/a803dd8795744243ae732bdcac7b9739Test

المؤلفون: André Fiala, Brett S. Abrahams, J. Douglas Armstrong, August B. Smit, Colin Mclean, Young Jae Woo, Claudia Bagni, Angela Giangrande, Tilmann Achsel, Marco Spinazzi, Ka Wan Li, Ulrike Pech, Patrick Callaerts, Alexandros K. Kanellopoulos, Vittoria Mariano

المساهمون: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Amsterdam Neuroscience - Cellular & Molecular Mechanisms, AIMMS, Molecular and Cellular Neurobiology, Center for Neurogenomics and Cognitive Research

المصدر: Kanellopoulos, A K, Mariano, V, Spinazzi, M, Woo, Y J, McLean, C, Pech, U, Li, K W, Armstrong, J D, Giangrande, A, Callaerts, P, Smit, A B, Abrahams, B S, Fiala, A, Achsel, T & Bagni, C 2020, ' Aralar Sequesters GABA into Hyperactive Mitochondria, Causing Social Behavior Deficits ', Cell, vol. 180, no. 6, e20, pp. 1178-1197 . https://doi.org/10.1016/j.cell.2020.02.044Test
Cell
Cell, Elsevier, 2020, 180 (6), pp.1178-1197.e20. ⟨10.1016/j.cell.2020.02.044⟩
Cell, 180(6), 1178-1197.e20. Cell Press
Kanellopoulos, A K, Mariano, V, Spinazzi, M, Woo, Y J, McLean, C, Pech, U, Li, K W, Armstrong, J D, Giangrande, A, Callaerts, P, Smit, A B, Abrahams, B S, Fiala, A, Achsel, T & Bagni, C 2020, ' Aralar Sequesters GABA into Hyperactive Mitochondria, Causing Social Behavior Deficits ', Cell, vol. 180, no. 6, pp. 1178-1197.e20 . https://doi.org/10.1016/j.cell.2020.02.044Test
Cell 180(6), 1178-1197.e20 (2020). doi:10.1016/j.cell.2020.02.044
Signal Transduction and Targeted Therapy

مصطلحات موضوعية: Male, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Mutant, Mitochondrion, mitochondrial activity, Mitochondrial Membrane Transport Proteins, Synaptic Transmission, Animals, Genetically Modified, GABA, 0302 clinical medicine, Drosophila Proteins, Homeostasis, BRAIN, gamma-Aminobutyric Acid, ComputingMilieux_MISCELLANEOUS, GENE-EXPRESSION, Neurons, 0303 health sciences, Neurodevelopmental disorders, Settore BIO/13, Research Highlight, Mitochondria, DROSOPHILA, Drosophila melanogaster, Schizophrenia, GABAergic, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Drosophila, COMPLEX I, Life Sciences & Biomedicine, FRAGILE-X, medicine.drug, Aralar, Biochemistry & Molecular Biology, social group behavior, autism, Biology, Neurotransmission, Molecular neuroscience, General Biochemistry, Genetics and Molecular Biology, gamma-Aminobutyric acid, Mitochondrial Proteins, PROTEIN COMPLEXES, CYFIP1, 03 medical and health sciences, mitochondrial membrane potential, SLC25A12 (AGC1), medicine, Animals, Humans, ddc:610, Social Behavior, 030304 developmental biology, Adaptor Proteins, Signal Transducing, Aspartic Acid, Science & Technology, AUTISM SPECTRUM DISORDER, Calcium-Binding Proteins, Transporter, Cell Biology, medicine.disease, DYSFUNCTION, schizophrenia, Glucose, Calcium, Neuroscience, 030217 neurology & neurosurgery

وصف الملف: application/pdf; Print

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4c7fe07f583c42e40b1ba624b773e56Test
https://hdl.handle.net/20.500.11820/24a7c2ca-e248-42f0-814f-2b1af9b8d1e4Test

المؤلفون: Richard Anney, Lambertus Klei, Dalila Pinto, Regina Regan, Judith Conroy, Tiago R. Magalhaes, Catarina Correia, Brett S. Abrahams, Nuala Sykes, Alistair T. Pagnamenta, Joana Almeida, Elena Bacchelli, Anthony J. Bailey, Nadia Bolshakova, Patrick F. Bolton, Thomas Bourgeron, Sean Brennan, Jessica Brian, Andrew R. Carson, Guillermo Casallo, Suh. Chu, Lynne Cochrane, Christina Corsello, Emily L. Crawford, Andrew Crossett, Geraldine Dawson, Maretha De Jonge, Penny Farrar Bridget A. Fernandez, Christine M. Freitag, Christopher Gillberg, Joseph T. Glessner, Elizabeth A. Heron, Matthew Hill, Richard Holt, Jennifer L. Howe, Gillian Hughes, Alexander Kolevzon, Anath C. Lionel, Xiao-qing Liu, Catherine Lord, Linda Lotspeich, Sabata C. Lund, Carine Mantoulan, Christian R. Marshall, Nadine M. Melhem, Alison Merikangas, Nancy J. Minshew, Ghazala K. Mirza, Stanley F. Nelson, Carolyn Noakes

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.downstate.edu/hbnl/documents/2010-Anney-Agenome-widescanforcommonallelesaffectingriskforautism.pdfTest.

وصف الملف: application/pdf

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.375.8416Test; http://www.downstate.edu/hbnl/documents/2010-Anney-Agenome-widescanforcommonallelesaffectingriskforautism.pdfTest

الإتاحة: http://www.downstate.edu/hbnl/documents/2010-Anney-Agenome-widescanforcommonallelesaffectingriskforautism.pdfTest

المؤلفون: Richard Anney, Lambertus Klei, Dalila Pinto, Regina Regan, Judith Conroy, Tiago Magalhaes, Catarina Correia, Brett Abrahams, Nuala Sykes, Hal Id Inserm, Tiago R. Magalhaes, Brett S. Abrahams, Alistair T. Pagnamenta, Joana Almeida, Elena Bacchelli, Anthony J. Bailey, Gillian Baird, Agatino Battaglia, Tom Berney, Nadia Bolshakova, Patrick F. Bolton, Thomas Bourgeron, Sean Brennan, Jessica Brian, Andrew R. Carson, Guillermo Casallo, Su H. Chu, Lynne Cochrane, Christina Corsello, Emily L. Crawford, Andrew Crossett, Geraldine Dawson, Maretha De Jonge, Richard Delorme, Irene Drmic, Eftichia Duketis, Frederico Duque, Annette Estes, Penny Farrar, Bridget A. Fern, Susan E. Folstein, Eric Fombonne, Christine M. Freitag, John Gilbert, Christopher Gillberg, Joseph T. Glessner, Jeremy Goldberg, Jonathan Green, Stephen J. Guter, Hakon Hakonarson, Elizabeth A. Heron, Matthew Hill, Richard Holt, Jennifer L. Howe, Gillian Hughes, Vanessa Hus, Roberta Igliozzi, Cecilia Kim, Sabine M. Klauck, Er Kolevzon, Olena Korvatska, Vlad Kustanovich, Clara M. Lajonchere, Janine A. Lamb

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.hal.inserm.fr/inserm-00521391/documentTest/.

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.658.9667Test; http://www.hal.inserm.fr/inserm-00521391/documentTest/

الإتاحة: http://www.hal.inserm.fr/inserm-00521391/documentTest/

المؤلفون: Maja Bucan, Brett S Abrahams, Kai Wang, Joseph T Glessner, Edward I Herman, Lisa I Sonnenblick, Ana I Alvarez Retuerto, Marcin Imielinski, Dexter Hadley, Jonathan P Bradfield, Cecilia Kim, Nicole B Gidaya, Ingrid Lindquist, Ted Hutman, Marian Sigman, Vlad Kustanovich, Clara M Lajonchere, Andrew Singleton, Junhyong Kim, Thomas H Wassink, William M McMahon, Thomas Owley, John A Sweeney, Hilary Coon, John I Nurnberger, Mingyao Li, Rita M Cantor, Nancy J Minshew, James S Sutcliffe, Edwin H Cook, Geraldine Dawson, Joseph D Buxbaum, Struan F A Grant, Gerard D Schellenberg, Daniel H Geschwind, Hakon Hakonarson

المصدر: PLoS Genetics, Vol 5, Iss 6, p e1000536 (2009)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/19557195/pdf/?tool=EBITest; https://doaj.org/toc/1553-7390Test; https://doaj.org/toc/1553-7404Test

الوصول الحر: https://doaj.org/article/ef6efa22e8c1433a9509243981654366Test