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Material Type: Article
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DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsyAnnals of neurology, 2012-10, Vol.72 (4), p.550-558 [Peer Reviewed Journal]Copyright © 2012 American Neurological Association ;2014 INIST-CNRS ;Copyright © 2012 American Neurological Association. ;ISSN: 0364-5134 ;EISSN: 1531-8249 ;DOI: 10.1002/ana.23632 ;PMID: 23109149 ;CODEN: ANNED3Full text available |
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Material Type: Article
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Evaluation of Neurological and Auditory Development in Children with Congenital Heart Disease using Essence Q Questionnaire and Auditory Brainstem Response (ABR) TestIranian journal of child neurology, 2024-01, Vol.18 (1), p.432023 The Authors. ;Copyright Iranian Child Neurology Society Winter 2024 ;ISSN: 1735-4668 ;EISSN: 2008-0700 ;DOI: 10.22037/ijcn.v18i1.39186 ;PMID: 38375124Full text available |
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Neurology of inherited glycosylation disordersLancet neurology, 2012-05, Vol.11 (5), p.453-466 [Peer Reviewed Journal]Elsevier Ltd ;2012 Elsevier Ltd ;Copyright © 2012 Elsevier Ltd. All rights reserved. ;Copyright Elsevier Limited May 2012 ;ISSN: 1474-4422 ;ISSN: 1474-4465 ;EISSN: 1474-4465 ;DOI: 10.1016/S1474-4422(12)70040-6 ;PMID: 22516080 ;CODEN: LANCAOFull text available |
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Material Type: Article
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Co-occurring conditions in children with Down syndrome and autism: a retrospective studyJournal of neurodevelopmental disorders, 2023-03, Vol.15 (1), p.9-9, Article 9 [Peer Reviewed Journal]2023. The Author(s). ;COPYRIGHT 2023 BioMed Central Ltd. ;2023. 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) 2023 ;ISSN: 1866-1955 ;ISSN: 1866-1947 ;EISSN: 1866-1955 ;DOI: 10.1186/s11689-023-09478-w ;PMID: 36864370Full text available |
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Material Type: Article
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Executive functioning in preschoolers with 22q11.2 deletion syndrome and the impact of congenital heart defectsJournal of neurodevelopmental disorders, 2023-05, Vol.15 (1), p.15-15, Article 15 [Peer Reviewed Journal]2023. The Author(s). ;COPYRIGHT 2023 BioMed Central Ltd. ;2023. 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) 2023 ;ISSN: 1866-1955 ;ISSN: 1866-1947 ;EISSN: 1866-1955 ;DOI: 10.1186/s11689-023-09484-y ;PMID: 37173621Full text available |
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6 |
Material Type: Article
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Magnetic resonance imaging patterns of muscle involvement in genetic muscle diseases: a systematic reviewJournal of neurology, 2017-07, Vol.264 (7), p.1320-1333 [Peer Reviewed Journal]Springer-Verlag Berlin Heidelberg 2016 ;Journal of Neurology is a copyright of Springer, 2017. ;ISSN: 0340-5354 ;EISSN: 1432-1459 ;DOI: 10.1007/s00415-016-8350-6 ;PMID: 27888415Full text available |
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7 |
Material Type: Article
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SPARK: A US Cohort of 50,000 Families to Accelerate Autism ResearchNeuron (Cambridge, Mass.), 2018-02, Vol.97 (3), p.488-493 [Peer Reviewed Journal]2018 Elsevier Inc. ;Copyright © 2018 Elsevier Inc. All rights reserved. ;Copyright Elsevier Limited Feb 7, 2018 ;ISSN: 0896-6273 ;EISSN: 1097-4199 ;DOI: 10.1016/j.neuron.2018.01.015 ;PMID: 29420931Full text available |
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8 |
Material Type: Article
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Targeting molecular pathways for the treatment of inherited retinal degenerationNeural regeneration research, 2020-10, Vol.15 (10), p.1784-1791 [Peer Reviewed Journal]COPYRIGHT 2020 Medknow Publications and Media Pvt. Ltd. ;2020. This article is published under (http://creativecommons.org/licenses/by-nc-sa/3.0/) (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;Copyright © Wanfang Data Co. Ltd. All Rights Reserved. ;Copyright: © 2020 Neural Regeneration Research 2020 ;ISSN: 1673-5374 ;EISSN: 1876-7958 ;DOI: 10.4103/1673-5374.280303 ;PMID: 32246618Full text available |
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9 |
Material Type: Article
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Prospective investigation of FOXP1 syndromeMolecular autism, 2017-10, Vol.8 (1), p.57-57, Article 57 [Peer Reviewed Journal]COPYRIGHT 2017 BioMed Central Ltd. ;COPYRIGHT 2017 BioMed Central Ltd. ;Copyright BioMed Central 2017 ;The Author(s). 2017 ;ISSN: 2040-2392 ;EISSN: 2040-2392 ;DOI: 10.1186/s13229-017-0172-6 ;PMID: 29090079Full text available |
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Material Type: Article
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Research Advances on Therapeutic Approaches to Congenital Central Hypoventilation Syndrome (CCHS)Frontiers in neuroscience, 2021-01, Vol.14, p.615666-615666 [Peer Reviewed Journal]Copyright © 2021 Di Lascio, Benfante, Cardani and Fornasari. ;2021. 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 © 2021 Di Lascio, Benfante, Cardani and Fornasari. 2021 Di Lascio, Benfante, Cardani and Fornasari ;ISSN: 1662-4548 ;ISSN: 1662-453X ;EISSN: 1662-453X ;DOI: 10.3389/fnins.2020.615666 ;PMID: 33510615Full text available |
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11 |
Material Type: Article
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Elevated level of creatine phosphokinase in newborn: Clinical significance and association with congenital muscle diseasesNeurosciences (Riyadh, Saudi Arabia), 2022-10, Vol.27 (4), p.263-269 [Peer Reviewed Journal]Copyright: © Neurosciences. ;COPYRIGHT 2022 Saudi Medical Journal ;Copyright: © Neurosciences 2022 ;ISSN: 1319-6138 ;EISSN: 1319-6138 ;DOI: 10.17712/nsj.2022.4.20220051 ;PMID: 36252976Full text available |
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12 |
Material Type: Article
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Italian recommendations for diagnosis and management of congenital myasthenic syndromesNeurological sciences, 2019-03, Vol.40 (3), p.457-468 [Peer Reviewed Journal]Fondazione Società Italiana di Neurologia 2018 ;Neurological Sciences is a copyright of Springer, (2018). All Rights Reserved. ;ISSN: 1590-1874 ;EISSN: 1590-3478 ;DOI: 10.1007/s10072-018-3682-x ;PMID: 30554356Full text available |
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13 |
Material Type: Article
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Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes-A Retrospective Single Centre Cohort StudyFrontiers in human neuroscience, 2020-12, Vol.14, p.560860-560860 [Peer Reviewed Journal]Copyright © 2020 Della Marina, Wibbeler, Abicht, Kölbel, Lochmüller, Roos and Schara. ;COPYRIGHT 2020 Frontiers Research Foundation ;2020. 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 © 2020 Della Marina, Wibbeler, Abicht, Kölbel, Lochmüller, Roos and Schara. 2020 Della Marina, Wibbeler, Abicht, Kölbel, Lochmüller, Roos and Schara ;ISSN: 1662-5161 ;EISSN: 1662-5161 ;DOI: 10.3389/fnhum.2020.560860 ;PMID: 33364925Full text available |
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14 |
Material Type: Article
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Joubert syndrome: congenital cerebellar ataxia with the molar toothLancet neurology, 2013-09, Vol.12 (9), p.894-905 [Peer Reviewed Journal]Elsevier Ltd ;2013 Elsevier Ltd ;Copyright © 2013 Elsevier Ltd. All rights reserved. ;Copyright Elsevier Limited Sep 2013 ;2013 Elsevier Ltd. All rights reserved. 2013 ;ISSN: 1474-4422 ;EISSN: 1474-4465 ;DOI: 10.1016/S1474-4422(13)70136-4 ;PMID: 23870701 ;CODEN: LANCAOFull text available |
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15 |
Material Type: Article
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Novel copy number variation of COLQ gene in a Moroccan patient with congenital myasthenic syndrome: a case report and review of the literatureBMC neurology, 2022-08, Vol.22 (1), p.1-292, Article 292 [Peer Reviewed Journal]COPYRIGHT 2022 BioMed Central Ltd. ;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. ;The Author(s) 2022 ;ISSN: 1471-2377 ;EISSN: 1471-2377 ;DOI: 10.1186/s12883-022-02822-y ;PMID: 35932018Full text available |
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16 |
Material Type: Article
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Multi-Slice Radiomic Analysis of Apparent Diffusion Coefficient Metrics Improves Evaluation of Brain Alterations in Neonates With Congenital Heart DiseasesFrontiers in neurology, 2020-12, Vol.11, p.586518-586518 [Peer Reviewed Journal]Copyright © 2020 Zhu, Zhao, Wang, Zhou, Wang, Mo, Yang and Sun. ;COPYRIGHT 2020 Frontiers Research Foundation ;Copyright © 2020 Zhu, Zhao, Wang, Zhou, Wang, Mo, Yang and Sun. 2020 Zhu, Zhao, Wang, Zhou, Wang, Mo, Yang and Sun ;ISSN: 1664-2295 ;EISSN: 1664-2295 ;DOI: 10.3389/fneur.2020.586518 ;PMID: 33362694Full text available |
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17 |
Material Type: Article
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Influence of Background Musical Emotions on Attention in Congenital AmusiaFrontiers in human neuroscience, 2021-01, Vol.14, p.566841-566841 [Peer Reviewed Journal]Copyright © 2021 Fernandez, Vuilleumier, Gosselin and Peretz. ;COPYRIGHT 2021 Frontiers Research Foundation ;2021. 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 © 2021 Fernandez, Vuilleumier, Gosselin and Peretz. 2021 Fernandez, Vuilleumier, Gosselin and Peretz ;ISSN: 1662-5161 ;EISSN: 1662-5161 ;DOI: 10.3389/fnhum.2020.566841 ;PMID: 33568976Full text available |
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18 |
Material Type: Article
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A case report of an intermediate phenotype between congenital myasthenic syndrome and D-2- and L-2-hydroxyglutaric aciduria due to novel SLC25A1 variantsBMC neurology, 2020-07, Vol.20 (1), p.1-278, Article 278 [Peer Reviewed Journal]COPYRIGHT 2020 BioMed Central Ltd. ;2020. 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) 2020 ;ISSN: 1471-2377 ;EISSN: 1471-2377 ;DOI: 10.1186/s12883-020-01854-6 ;PMID: 32660532Full text available |
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19 |
Material Type: Article
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Is Congenital Amusia a Disconnection Syndrome? A Study Combining Tract- and Network-Based AnalysisFrontiers in human neuroscience, 2017-09, Vol.11, p.473-473 [Peer Reviewed Journal]COPYRIGHT 2017 Frontiers Research Foundation ;2017. 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 © 2017 Wang, Zhang, Wan and Peng. 2017 Wang, Zhang, Wan and Peng ;ISSN: 1662-5161 ;EISSN: 1662-5161 ;DOI: 10.3389/fnhum.2017.00473 ;PMID: 29033806Full text available |
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20 |
Material Type: Article
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Pedicle subtraction osteotomy in patient with congenital kyphosisEgyptian journal of neurosurgery, 2024-12, Vol.39 (1), p.17-5 [Peer Reviewed Journal]The Author(s) 2024 ;The Author(s) 2024. 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. ;EISSN: 2520-8225 ;DOI: 10.1186/s41984-024-00283-8Full text available |