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

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2
Prevalence of congenital amusia
Prevalence of congenital amusia
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Prevalence of congenital amusia

European journal of human genetics : EJHG, 2017-05, Vol.25 (5), p.625-630 [Peer Reviewed Journal]

Copyright Nature Publishing Group May 2017 ;Copyright © 2017 Macmillan Publishers Limited, part of Springer Nature. 2017 Macmillan Publishers Limited, part of Springer Nature. ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2017.15 ;PMID: 28224991

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3
DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy
DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy
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DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy

Annals 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: ANNED3

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4
CGH Findings in Children with Complex and Essential Autistic Spectrum Disorder
CGH Findings in Children with Complex and Essential Autistic Spectrum Disorder
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CGH Findings in Children with Complex and Essential Autistic Spectrum Disorder

Journal of autism and developmental disorders, 2023-02, Vol.53 (2), p.615-623 [Peer Reviewed Journal]

The Author(s), under exclusive licence to Springer Science+Business Media, LLC part of Springer Nature 2021 ;2021. The Author(s), under exclusive licence to Springer Science+Business Media, LLC part of Springer Nature. ;COPYRIGHT 2023 Springer ;The Author(s), under exclusive licence to Springer Science+Business Media, LLC part of Springer Nature 2021. ;ISSN: 0162-3257 ;EISSN: 1573-3432 ;DOI: 10.1007/s10803-020-04833-5 ;PMID: 33394245

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5
An integrated diagnosis strategy for congenital myopathies
An integrated diagnosis strategy for congenital myopathies
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An integrated diagnosis strategy for congenital myopathies

PloS one, 2013-06, Vol.8 (6), p.e67527-e67527 [Peer Reviewed Journal]

COPYRIGHT 2013 Public Library of Science ;2013 Böhm 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. ;Distributed under a Creative Commons Attribution 4.0 International License ;2013 Böhm et al 2013 Böhm et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0067527 ;PMID: 23826317

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6
Co-occurring conditions in children with Down syndrome and autism: a retrospective study
Co-occurring conditions in children with Down syndrome and autism: a retrospective study
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Co-occurring conditions in children with Down syndrome and autism: a retrospective study

Journal 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: 36864370

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7
Executive functioning in preschoolers with 22q11.2 deletion syndrome and the impact of congenital heart defects
Executive functioning in preschoolers with 22q11.2 deletion syndrome and the impact of congenital heart defects
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Executive functioning in preschoolers with 22q11.2 deletion syndrome and the impact of congenital heart defects

Journal 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: 37173621

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8
SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research
SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research
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SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research

Neuron (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: 29420931

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9
Targeting molecular pathways for the treatment of inherited retinal degeneration
Targeting molecular pathways for the treatment of inherited retinal degeneration
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Targeting molecular pathways for the treatment of inherited retinal degeneration

Neural 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: 32246618

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10
Magnetic resonance imaging patterns of muscle involvement in genetic muscle diseases: a systematic review
Magnetic resonance imaging patterns of muscle involvement in genetic muscle diseases: a systematic review
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Magnetic resonance imaging patterns of muscle involvement in genetic muscle diseases: a systematic review

Journal 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: 27888415

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11
Research Advances on Therapeutic Approaches to Congenital Central Hypoventilation Syndrome (CCHS)
Research Advances on Therapeutic Approaches to Congenital Central Hypoventilation Syndrome (CCHS)
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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: 33510615

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12
Italian recommendations for diagnosis and management of congenital myasthenic syndromes
Italian recommendations for diagnosis and management of congenital myasthenic syndromes
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Italian recommendations for diagnosis and management of congenital myasthenic syndromes

Neurological 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: 30554356

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13
Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes-A Retrospective Single Centre Cohort Study
Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes-A Retrospective Single Centre Cohort Study
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Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes-A Retrospective Single Centre Cohort Study

Frontiers 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: 33364925

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14
The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy
The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy
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The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy

Genetics in medicine, 2020-02, Vol.22 (2), p.427-431 [Peer Reviewed Journal]

2019© American College of Medical Genetics and Genomics 2019 ;American College of Medical Genetics and Genomics 2019. ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-019-0639-2 ;PMID: 31474762

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15
Novel Variants of the SMARCA4 Gene Associated with Autistic Features Rather Than Typical Coffin-Siris Syndrome in Eight Chinese Pediatric Patients
Novel Variants of the SMARCA4 Gene Associated with Autistic Features Rather Than Typical Coffin-Siris Syndrome in Eight Chinese Pediatric Patients
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Novel Variants of the SMARCA4 Gene Associated with Autistic Features Rather Than Typical Coffin-Siris Syndrome in Eight Chinese Pediatric Patients

Journal of autism and developmental disorders, 2022-11, Vol.52 (11), p.5033-5041 [Peer Reviewed Journal]

The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature 2021 ;COPYRIGHT 2022 Springer ;The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature 2021. ;ISSN: 0162-3257 ;EISSN: 1573-3432 ;DOI: 10.1007/s10803-021-05365-2

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16
Multi-Slice Radiomic Analysis of Apparent Diffusion Coefficient Metrics Improves Evaluation of Brain Alterations in Neonates With Congenital Heart Diseases
Multi-Slice Radiomic Analysis of Apparent Diffusion Coefficient Metrics Improves Evaluation of Brain Alterations in Neonates With Congenital Heart Diseases
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Multi-Slice Radiomic Analysis of Apparent Diffusion Coefficient Metrics Improves Evaluation of Brain Alterations in Neonates With Congenital Heart Diseases

Frontiers 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: 33362694

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17
Influence of Background Musical Emotions on Attention in Congenital Amusia
Influence of Background Musical Emotions on Attention in Congenital Amusia
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Influence of Background Musical Emotions on Attention in Congenital Amusia

Frontiers 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: 33568976

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18
Drosophila studies support a role for a presynaptic synaptotagmin mutation in a human congenital myasthenic syndrome
Drosophila studies support a role for a presynaptic synaptotagmin mutation in a human congenital myasthenic syndrome
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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

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19
Is Congenital Amusia a Disconnection Syndrome? A Study Combining Tract- and Network-Based Analysis
Is Congenital Amusia a Disconnection Syndrome? A Study Combining Tract- and Network-Based Analysis
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Is Congenital Amusia a Disconnection Syndrome? A Study Combining Tract- and Network-Based Analysis

Frontiers 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: 29033806

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20
Multiple Independent Gene Disorders Causing Bardet–Biedl Syndrome, Congenital Hypothyroidism, and Hearing Loss in a Single Indian Patient
Multiple Independent Gene Disorders Causing Bardet–Biedl Syndrome, Congenital Hypothyroidism, and Hearing Loss in a Single Indian Patient
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Multiple Independent Gene Disorders Causing Bardet–Biedl Syndrome, Congenital Hypothyroidism, and Hearing Loss in a Single Indian Patient

Brain sciences, 2023-08, Vol.13 (8), p.1210 [Peer Reviewed Journal]

COPYRIGHT 2023 MDPI AG ;2023 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. ;2023 by the authors. 2023 ;ISSN: 2076-3425 ;EISSN: 2076-3425 ;DOI: 10.3390/brainsci13081210 ;PMID: 37626566

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