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Material Type: Article
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Global Nav1.7 knockout mice recapitulate the phenotype of human congenital indifference to painPloS one, 2014-09, Vol.9 (9), p.e105895-e105895 [Peer Reviewed Journal]COPYRIGHT 2014 Public Library of Science ;COPYRIGHT 2014 Public Library of Science ;2014 Gingras et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2014 Gingras et al 2014 Gingras et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0105895 ;PMID: 25188265Full text available |
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Drosophila studies support a role for a presynaptic synaptotagmin mutation in a human congenital myasthenic syndromePloS one, 2017-09, Vol.12 (9), p.e0184817-e0184817 [Peer Reviewed Journal]COPYRIGHT 2017 Public Library of Science ;COPYRIGHT 2017 Public Library of Science ;2017 Shields et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2017 Shields et al 2017 Shields et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0184817 ;PMID: 28953919Full text available |
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Neural and synaptic defects in slytherin, a zebrafish model for human congenital disorders of glycosylationPloS one, 2010-10, Vol.5 (10), p.e13743-e13743 [Peer Reviewed Journal]COPYRIGHT 2010 Public Library of Science ;COPYRIGHT 2010 Public Library of Science ;2010 Song et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License: https://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;Song et al. 2010 ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0013743 ;PMID: 21060795Full text available |
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Material Type: Article
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A neonatal nonhuman primate model of gestational Zika virus infection with evidence of microencephaly, seizures and cardiomyopathyPloS one, 2020-01, Vol.15 (1), p.e0227676-e0227676 [Peer Reviewed Journal]COPYRIGHT 2020 Public Library of Science ;COPYRIGHT 2020 Public Library of Science ;2020 Steinbach et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2020 Steinbach et al 2020 Steinbach et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0227676 ;PMID: 31935257Full text available |
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Material Type: Article
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Natural history of cone disease in the murine model of Leber congenital amaurosis due to CEP290 mutation: determining the timing and expectation of therapyPloS one, 2014-03, Vol.9 (3), p.e92928-e92928 [Peer Reviewed Journal]COPYRIGHT 2014 Public Library of Science ;COPYRIGHT 2014 Public Library of Science ;2014 Boye et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2014 Boye et al 2014 Boye et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0092928 ;PMID: 24671090Full text available |
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Material Type: Article
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Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognitionPLoS genetics, 2017-07, Vol.13 (7), p.e1006886-e1006886 [Peer Reviewed Journal]COPYRIGHT 2017 Public Library of Science ;COPYRIGHT 2017 Public Library of Science ;2017 Public Library of Science. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited: for cognition. PLoS Genet 13(7): e1006886. https://doi.org/10.1371/journal.pgen.1006886 ;Distributed under a Creative Commons Attribution 4.0 International License ;2017 Arbogast et al 2017 Arbogast et al ;2017 Public Library of Science. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited: for cognition. PLoS Genet 13(7): e1006886. https://doi.org/10.1371/journal.pgen.1006886 ;ISSN: 1553-7404 ;ISSN: 1553-7390 ;EISSN: 1553-7404 ;DOI: 10.1371/journal.pgen.1006886 ;PMID: 28704368Full text available |
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Material Type: Article
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Induction of Autophagy Promotes Clearance of RHOP23H Aggregates and Protects From Retinal DegenerationFrontiers in aging neuroscience, 2022-06, Vol.14, p.878958-878958 [Peer Reviewed Journal]2022. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;Copyright © 2022 Intartaglia, Giamundo, Naso, Nusco, Di Giulio, Salierno, Polishchuk and Conte. 2022 Intartaglia, Giamundo, Naso, Nusco, Di Giulio, Salierno, Polishchuk and Conte ;ISSN: 1663-4365 ;EISSN: 1663-4365 ;DOI: 10.3389/fnagi.2022.878958 ;PMID: 35847673Full text available |
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Material Type: Article
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Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with MicrocephalyNeuron (Cambridge, Mass.), 2021-01, Vol.109 (2), p.241-256.e9 [Peer Reviewed Journal]2020 Elsevier Inc. ;Copyright © 2020 Elsevier Inc. All rights reserved. ;2020. Elsevier Inc. ;ISSN: 0896-6273 ;EISSN: 1097-4199 ;DOI: 10.1016/j.neuron.2020.10.035 ;PMID: 33220177Full text available |
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Material Type: Article
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Functional and behavioral restoration of vision by gene therapy in the guanylate cyclase-1 (GC1) knockout mousePloS one, 2010-06, Vol.5 (6), p.e11306-e11306 [Peer Reviewed Journal]COPYRIGHT 2010 Public Library of Science ;COPYRIGHT 2010 Public Library of Science ;2010 Boye et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License: https://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;Boye et al. 2010 ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0011306 ;PMID: 20593011Full text available |
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Material Type: Article
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Early loss of Scribble affects cortical development, interhemispheric connectivity and psychomotor activityScientific reports, 2021-04, Vol.11 (1), p.9106-17, Article 9106 [Peer Reviewed Journal]The Author(s) 2021. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;Attribution ;The Author(s) 2021 ;ISSN: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-021-88147-1 ;PMID: 33907211Full text available |
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Material Type: Article
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A hypomorphic PIGA gene mutation causes severe defects in neuron development and susceptibility to complement-mediated toxicity in a human iPSC modelPloS one, 2017-04, Vol.12 (4), p.e0174074 [Peer Reviewed Journal]COPYRIGHT 2017 Public Library of Science ;COPYRIGHT 2017 Public Library of Science ;This is an open access article, free of all copyright, and may be freely reproduced, distributed, transmitted, modified, built upon, or otherwise used by anyone for any lawful purpose. The work is made available under the Creative Commons CC0 public domain dedication: https://creativecommons.org/publicdomain/zero/1.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0174074 ;PMID: 28441409Full text available |
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Material Type: Article
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Hyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC), is a neuronal proteinPloS one, 2012-03, Vol.7 (3), p.e32180-e32180 [Peer Reviewed Journal]COPYRIGHT 2012 Public Library of Science ;COPYRIGHT 2012 Public Library of Science ;2012 Gazzerro et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License: https://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;Gazzerro et al. 2012 ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0032180 ;PMID: 22461884Full text available |
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Material Type: Article
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Insufficient ER-stress response causes selective mouse cerebellar granule cell degeneration resembling that seen in congenital disorders of glycosylationMolecular brain, 2013-12, Vol.6 (1), p.52-52, Article 52 [Peer Reviewed Journal]COPYRIGHT 2013 BioMed Central Ltd. ;2013 Sun et al.; licensee BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. ;Copyright © 2013 Sun et al.; licensee BioMed Central Ltd. 2013 Sun et al.; licensee BioMed Central Ltd. ;ISSN: 1756-6606 ;EISSN: 1756-6606 ;DOI: 10.1186/1756-6606-6-52 ;PMID: 24305089Full text available |
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Material Type: Article
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Review of RyR1 pathway and associated pathomechanismsActa neuropathologica communications, 2016-11, Vol.4 (1), p.121-121, Article 121 [Peer Reviewed Journal]COPYRIGHT 2016 BioMed Central Ltd. ;Copyright BioMed Central 2016 ;The Author(s). 2016 ;ISSN: 2051-5960 ;EISSN: 2051-5960 ;DOI: 10.1186/s40478-016-0392-6 ;PMID: 27855725Full text available |
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Essential role of the m2R-RGS6-IKACh pathway in controlling intrinsic heart rate variabilityPloS one, 2013, Vol.8 (10), p.e76973-e76973 [Peer Reviewed Journal]2013. This is an open-access article, free of all copyright, and may be freely reproduced, distributed, transmitted, modified, built upon, or otherwise used by anyone for any lawful purpose. The work is made available under the Creative Commons CC0 public domain dedication. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2013 ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0076973 ;PMID: 24204714Full text available |
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Material Type: Article
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Absence of BBSome function leads to astrocyte reactivity in the brainMolecular brain, 2019-05, Vol.12 (1), p.48-19, Article 48 [Peer Reviewed Journal]COPYRIGHT 2019 BioMed Central Ltd. ;2019. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;The Author(s). 2019 ;ISSN: 1756-6606 ;EISSN: 1756-6606 ;DOI: 10.1186/s13041-019-0466-z ;PMID: 31072410Full text available |
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Material Type: Article
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Dysregulation of kisspeptin and neurogenesis at adolescence link inborn immune deficits to the late onset of abnormal sensorimotor gating in congenital psychological disordersMolecular psychiatry, 2010-04, Vol.15 (4), p.415-425 [Peer Reviewed Journal]COPYRIGHT 2010 Nature Publishing Group ;Copyright Nature Publishing Group Apr 2010 ;Nature Publishing Group 2010. ;ISSN: 1359-4184 ;EISSN: 1476-5578 ;DOI: 10.1038/mp.2009.66 ;PMID: 19636313Full text available |
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Material Type: Article
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Suppression of adipogenesis by pathogenic seipin mutant is associated with inflammatory responsePloS one, 2013-03, Vol.8 (3), p.e57874 [Peer Reviewed Journal]COPYRIGHT 2013 Public Library of Science ;COPYRIGHT 2013 Public Library of Science ;2013 Qiu et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License: https://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2013 Qiu et al 2013 Qiu et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0057874 ;PMID: 23520483Full text available |
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Material Type: Article
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Myelination of Congenitally Dysmyelinated Spinal Cord Axons by Adult Neural Precursor Cells Results in Formation of Nodes of Ranvier and Improved Axonal ConductionThe Journal of neuroscience, 2007-03, Vol.27 (13), p.3416-3428 [Peer Reviewed Journal]Copyright © 2007 Society for Neuroscience 0270-6474/07/273416-13$15.00/0 2007 ;ISSN: 0270-6474 ;EISSN: 1529-2401 ;DOI: 10.1523/JNEUROSCI.0273-07.2007 ;PMID: 17392458Full text available |
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Material Type: Article
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Genetic variation for cardiac dysfunction in DrosophilaPloS one, 2007-07, Vol.2 (7), p.e601-e601 [Peer Reviewed Journal]COPYRIGHT 2007 Public Library of Science ;2007 Ocorr et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;Ocorr et al. 2007 ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0000601 ;PMID: 17622346Full text available |