Results 1 - 20 of 8,228 for All Library Resources
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| Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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| 1 |
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Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approachesLancet neurology, 2019-12, Vol.18 (12), p.1136-1146 [Peer Reviewed Journal]2019 Elsevier Ltd ;Copyright © 2019 Elsevier Ltd. All rights reserved. ;2019. Elsevier Ltd ;ISSN: 1474-4422 ;EISSN: 1474-4465 ;DOI: 10.1016/S1474-4422(19)30235-2 ;PMID: 31377012Full text available |
| 2 |
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Update on the Genetics of Spastic ParaplegiasCurrent neurology and neuroscience reports, 2019-04, Vol.19 (4), p.18-19, Article 18 [Peer Reviewed Journal]Springer Science+Business Media, LLC, part of Springer Nature 2019 ;Current Neurology and Neuroscience Reports is a copyright of Springer, (2019). All Rights Reserved. ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 1528-4042 ;EISSN: 1534-6293 ;DOI: 10.1007/s11910-019-0930-2 ;PMID: 30820684Full text available |
| 3 |
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SPG8 mutations in Italian families: clinical data and literature reviewNeurological sciences, 2020-03, Vol.41 (3), p.699-703 [Peer Reviewed Journal]Fondazione Società Italiana di Neurologia 2019 ;Neurological Sciences is a copyright of Springer, (2019). All Rights Reserved. ;ISSN: 1590-1874 ;EISSN: 1590-3478 ;DOI: 10.1007/s10072-019-04180-z ;PMID: 31814071Full text available |
| 4 |
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Paving a way to treat spastic paraplegia 50The Journal of clinical investigation, 2023-05, Vol.133 (10), p.1-3 [Peer Reviewed Journal]COPYRIGHT 2023 American Society for Clinical Investigation ;Copyright American Society for Clinical Investigation May 2023 ;2023 Brent et al. 2023 Brent et al. ;ISSN: 1558-8238 ;ISSN: 0021-9738 ;EISSN: 1558-8238 ;DOI: 10.1172/JCI170226 ;PMID: 37183815Full text available |
| 5 |
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Hereditary Spastic Paraplegia: Clinical and Genetic HallmarksCerebellum (London, England), 2017-04, Vol.16 (2), p.525-551 [Peer Reviewed Journal]Springer Science+Business Media New York 2016 ;The Cerebellum is a copyright of Springer, 2017. ;ISSN: 1473-4222 ;EISSN: 1473-4230 ;DOI: 10.1007/s12311-016-0803-z ;PMID: 27271711Full text available |
| 6 |
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Hereditary Spastic Paraplegia: An UpdateInternational journal of molecular sciences, 2022-02, Vol.23 (3), p.1697 [Peer Reviewed Journal]2022 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2022 by the authors. 2022 ;ISSN: 1422-0067 ;ISSN: 1661-6596 ;EISSN: 1422-0067 ;DOI: 10.3390/ijms23031697 ;PMID: 35163618Full text available |
| 7 |
Material Type: Article
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Intrathecal AAV9/AP4M1 gene therapy for hereditary spastic paraplegia 50 shows safety and efficacy in preclinical studiesThe Journal of clinical investigation, 2023-05, Vol.133 (10), p.1-16 [Peer Reviewed Journal]COPYRIGHT 2023 American Society for Clinical Investigation ;Copyright American Society for Clinical Investigation May 2023 ;2023 Chen et al. 2023 Chen et al. ;ISSN: 1558-8238 ;ISSN: 0021-9738 ;EISSN: 1558-8238 ;DOI: 10.1172/JCI164575 ;PMID: 36951961Full text available |
| 8 |
Material Type: Article
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KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegiaEuropean journal of human genetics : EJHG, 2020-01, Vol.28 (1), p.40-49 [Peer Reviewed Journal]2019. 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. ;The Author(s) 2019 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/s41431-019-0497-z ;PMID: 31488895Full text available |
| 9 |
Material Type: Article
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A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesisBrain (London, England : 1878), 2017-03, Vol.140 (3), p.547-554 [Peer Reviewed Journal]The Author (2017). Published by Oxford University Press on behalf of the Guarantors of Brain. ;The Author (2017). Published by Oxford University Press on behalf of the Guarantors of Brain. 2017 ;ISSN: 0006-8950 ;EISSN: 1460-2156 ;DOI: 10.1093/brain/aww318 ;PMID: 28052917Full text available |
| 10 |
Material Type: Article
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Genetic and phenotypic characterization of complex hereditary spastic paraplegiaBrain (London, England : 1878), 2016-07, Vol.139 (Pt 7), p.1904-1918 [Peer Reviewed Journal]The Author (2016). Published by Oxford University Press on behalf of the Guarantors of Brain. ;The Author (2016). Published by Oxford University Press on behalf of the Guarantors of Brain. 2016 ;ISSN: 0006-8950 ;EISSN: 1460-2156 ;DOI: 10.1093/brain/aww111 ;PMID: 27217339Full text available |
| 11 |
Material Type: Article
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Defects in ER-endosome contacts impact lysosome function in hereditary spastic paraplegiaThe Journal of cell biology, 2017-05, Vol.216 (5), p.1337-1355 [Peer Reviewed Journal]2017 Allison et al. ;Copyright Rockefeller University Press May 2017 ;2017 Allison et al. 2017 ;ISSN: 0021-9525 ;EISSN: 1540-8140 ;DOI: 10.1083/jcb.201609033 ;PMID: 28389476Full text available |
| 12 |
Material Type: Article
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Drosophila SPG12 ortholog, reticulon-like 1, governs presynaptic ER organization and Ca2+ dynamicsThe Journal of cell biology, 2023-06, Vol.222 (6), p.1 [Peer Reviewed Journal]2023 Pérez-Moreno et al. ;Copyright Rockefeller University Press Jun 2023 ;2023 Pérez-Moreno et al. 2023 Pérez-Moreno et al. ;ISSN: 0021-9525 ;EISSN: 1540-8140 ;DOI: 10.1083/jcb.202112101 ;PMID: 36952540Full text available |
| 13 |
Material Type: Article
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Multiparametric rapid screening of neuronal process pathology for drug target identification in HSP patient-specific neuronsScientific reports, 2019-07, Vol.9 (1), p.9615-13, Article 9615 [Peer Reviewed Journal]2019. 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. ;The Author(s) 2019 ;ISSN: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-019-45246-4 ;PMID: 31270336Full text available |
| 14 |
Material Type: Article
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Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disordersEuropean journal of human genetics : EJHG, 2016-10, Vol.24 (10), p.1460-1466 [Peer Reviewed Journal]Copyright Nature Publishing Group Oct 2016 ;Copyright © 2016 Macmillan Publishers Limited 2016 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2016.42 ;PMID: 27165006Full text available |
| 15 |
Material Type: Article
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Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegiasScientific reports, 2021-11, Vol.11 (1), p.22248-22248, Article 22248 [Peer Reviewed Journal]2021. The Author(s). ;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. ;The Author(s) 2021 ;ISSN: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-021-01635-2 ;PMID: 34782662Full text available |
| 16 |
Material Type: Article
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Spastic Paraplegia with Paget's Disease of Bone due to a VCP Gene MutationInternal Medicine, 2021/01/01, Vol.60(1), pp.141-144 [Peer Reviewed Journal]2021 by The Japanese Society of Internal Medicine ;Copyright Japan Science and Technology Agency 2021 ;Copyright © 2021 by The Japanese Society of Internal Medicine ;ISSN: 0918-2918 ;EISSN: 1349-7235 ;DOI: 10.2169/internalmedicine.4617-20 ;PMID: 32893227Full text available |
| 17 |
Material Type: Article
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Effect of epidural stimulation of the lumbosacral spinal cord on voluntary movement, standing, and assisted stepping after motor complete paraplegia: a case studyThe Lancet (British edition), 2011-06, Vol.377 (9781), p.1938-1947 [Peer Reviewed Journal]Elsevier Ltd ;2011 Elsevier Ltd ;2015 INIST-CNRS ;Copyright © 2011 Elsevier Ltd. All rights reserved. ;Copyright Elsevier Limited Jun 4-Jun 10, 2011 ;2011 Elsevier Ltd. All rights reserved. 2011 ;ISSN: 0140-6736 ;EISSN: 1474-547X ;DOI: 10.1016/S0140-6736(11)60547-3 ;PMID: 21601270 ;CODEN: LANCAOFull text available |
| 18 |
Material Type: Article
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Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegiaNature communications, 2019-10, Vol.10 (1), p.4790-13, Article 4790 [Peer Reviewed Journal]2019. 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. ;The Author(s) 2019 ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/s41467-019-12620-9 ;PMID: 31636353Full text available |
| 19 |
Material Type: Article
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Enabling Task-Specific Volitional Motor Functions via Spinal Cord Neuromodulation in a Human With ParaplegiaMayo Clinic proceedings, 2017-04, Vol.92 (4), p.544-554 [Peer Reviewed Journal]Mayo Foundation for Medical Education and Research ;2017 Mayo Foundation for Medical Education and Research ;Copyright © 2017 Mayo Foundation for Medical Education and Research. Published by Elsevier Inc. All rights reserved. ;COPYRIGHT 2017 Frontline Medical Communications Inc. ;COPYRIGHT 2017 Elsevier, Inc. ;Copyright Mayo Foundation for Medical Education and Research Apr 2017 ;ISSN: 0025-6196 ;EISSN: 1942-5546 ;DOI: 10.1016/j.mayocp.2017.02.014 ;PMID: 28385196Full text available |
| 20 |
Material Type: Article
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Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegiaBrain (London, England : 1878), 2015-08, Vol.138 (Pt 8), p.2191-2205 [Peer Reviewed Journal]The Author (2015). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com. ;Distributed under a Creative Commons Attribution 4.0 International License ;The Author (2015). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com 2015 ;ISSN: 0006-8950 ;EISSN: 1460-2156 ;DOI: 10.1093/brain/awv143 ;PMID: 26026163Full text available |
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