skip to main content
Language:
Search Limited to: Search Limited to: Resource type Show Results with: Show Results with: Search type Index
Including "genetic disorders"   Just search Congenital diseases

Results 1 - 20 of 47,447  for All Library Resources

Results 1 2 3 4 5 next page
Show only
Refined by: subject: Animals remove subject: Neurosciences remove
Result Number Material Type Add to My Shelf Action Record Details and Options
1
Global Nav1.7 knockout mice recapitulate the phenotype of human congenital indifference to pain
Material Type:
Article
Add to My Research

Global Nav1.7 knockout mice recapitulate the phenotype of human congenital indifference to pain

PloS 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: 25188265

Full text available

2
Drosophila studies support a role for a presynaptic synaptotagmin mutation in a human congenital myasthenic syndrome
Material Type:
Article
Add to My Research

Drosophila studies support a role for a presynaptic synaptotagmin mutation in a human congenital myasthenic syndrome

PloS 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: 28953919

Full text available

3
Neural and synaptic defects in slytherin, a zebrafish model for human congenital disorders of glycosylation
Material Type:
Article
Add to My Research

Neural and synaptic defects in slytherin, a zebrafish model for human congenital disorders of glycosylation

PloS 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: 21060795

Full text available

4
A neonatal nonhuman primate model of gestational Zika virus infection with evidence of microencephaly, seizures and cardiomyopathy
Material Type:
Article
Add to My Research

A neonatal nonhuman primate model of gestational Zika virus infection with evidence of microencephaly, seizures and cardiomyopathy

PloS 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: 31935257

Full text available

5
Natural history of cone disease in the murine model of Leber congenital amaurosis due to CEP290 mutation: determining the timing and expectation of therapy
Material Type:
Article
Add to My Research

Natural history of cone disease in the murine model of Leber congenital amaurosis due to CEP290 mutation: determining the timing and expectation of therapy

PloS 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: 24671090

Full text available

6
Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition
Material Type:
Article
Add to My Research

Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition

PLoS 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: 28704368

Full text available

7
Induction of Autophagy Promotes Clearance of RHOP23H Aggregates and Protects From Retinal Degeneration
Material Type:
Article
Add to My Research

Induction of Autophagy Promotes Clearance of RHOP23H Aggregates and Protects From Retinal Degeneration

Frontiers 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: 35847673

Full text available

8
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly
Material Type:
Article
Add to My Research

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly

Neuron (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: 33220177

Full text available

9
Functional and behavioral restoration of vision by gene therapy in the guanylate cyclase-1 (GC1) knockout mouse
Material Type:
Article
Add to My Research

Functional and behavioral restoration of vision by gene therapy in the guanylate cyclase-1 (GC1) knockout mouse

PloS 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: 20593011

Full text available

10
Early loss of Scribble affects cortical development, interhemispheric connectivity and psychomotor activity
Material Type:
Article
Add to My Research

Early loss of Scribble affects cortical development, interhemispheric connectivity and psychomotor activity

Scientific 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: 33907211

Full text available

11
A hypomorphic PIGA gene mutation causes severe defects in neuron development and susceptibility to complement-mediated toxicity in a human iPSC model
Material Type:
Article
Add to My Research

A hypomorphic PIGA gene mutation causes severe defects in neuron development and susceptibility to complement-mediated toxicity in a human iPSC model

PloS 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: 28441409

Full text available

12
Hyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC), is a neuronal protein
Material Type:
Article
Add to My Research

Hyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC), is a neuronal protein

PloS 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: 22461884

Full text available

13
Insufficient ER-stress response causes selective mouse cerebellar granule cell degeneration resembling that seen in congenital disorders of glycosylation
Material Type:
Article
Add to My Research

Insufficient ER-stress response causes selective mouse cerebellar granule cell degeneration resembling that seen in congenital disorders of glycosylation

Molecular 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: 24305089

Full text available

14
Review of RyR1 pathway and associated pathomechanisms
Material Type:
Article
Add to My Research

Review of RyR1 pathway and associated pathomechanisms

Acta 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: 27855725

Full text available

15
Essential role of the m2R-RGS6-IKACh pathway in controlling intrinsic heart rate variability
Material Type:
Article
Add to My Research

Essential role of the m2R-RGS6-IKACh pathway in controlling intrinsic heart rate variability

PloS 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: 24204714

Full text available

16
Absence of BBSome function leads to astrocyte reactivity in the brain
Material Type:
Article
Add to My Research

Absence of BBSome function leads to astrocyte reactivity in the brain

Molecular 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: 31072410

Full text available

17
Dysregulation of kisspeptin and neurogenesis at adolescence link inborn immune deficits to the late onset of abnormal sensorimotor gating in congenital psychological disorders
Material Type:
Article
Add to My Research

Dysregulation of kisspeptin and neurogenesis at adolescence link inborn immune deficits to the late onset of abnormal sensorimotor gating in congenital psychological disorders

Molecular 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: 19636313

Full text available

18
Suppression of adipogenesis by pathogenic seipin mutant is associated with inflammatory response
Material Type:
Article
Add to My Research

Suppression of adipogenesis by pathogenic seipin mutant is associated with inflammatory response

PloS 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: 23520483

Full text available

19
Myelination of Congenitally Dysmyelinated Spinal Cord Axons by Adult Neural Precursor Cells Results in Formation of Nodes of Ranvier and Improved Axonal Conduction
Material Type:
Article
Add to My Research

Myelination of Congenitally Dysmyelinated Spinal Cord Axons by Adult Neural Precursor Cells Results in Formation of Nodes of Ranvier and Improved Axonal Conduction

The 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: 17392458

Full text available

20
Genetic variation for cardiac dysfunction in Drosophila
Material Type:
Article
Add to My Research

Genetic variation for cardiac dysfunction in Drosophila

PloS 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: 17622346

Full text available

Results 1 - 20 of 47,447  for All Library Resources

Results 1 2 3 4 5 next page

Personalize your results

  1. Edit

Refine Search Results

Expand My Results

  1.   

Show only

  1. Peer-reviewed Journals (47,220)

Refine My Results

Creation Date 

From To
  1. Before 1973  (17)
  2. 1973 To 1984  (133)
  3. 1985 To 1996  (1,009)
  4. 1997 To 2009  (15,104)
  5. After 2009  (31,197)
  6. More options open sub menu

Resource Type 

  1. Articles  (47,415)
  2. Book Chapters  (14)
  3. magazinearticle  (11)
  4. Books  (6)
  5. Reviews  (1)
  6. More options open sub menu

Language 

  1. English  (47,446)
  2. Japanese  (14,845)
  3. Dutch  (27)
  4. French  (17)
  5. Norwegian  (16)
  6. Portuguese  (11)
  7. Russian  (9)
  8. German  (3)
  9. Spanish  (2)
  10. Swedish  (1)
  11. Catalan  (1)
  12. Chinese  (1)
  13. More options open sub menu

Searching Remote Databases, Please Wait