Literature DB >> 19720548

Abnormal myelination in Angelman syndrome.

Manuel Castro-Gago, Carmen Gómez-Lado, Jesús Eirís-Puñal, Vanessa María Rodríguez-Mugico.   

Abstract

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Year:  2009        PMID： 19720548     DOI： 10.1016/j.ejpn.2009.07.007

Source DB:  PubMed          Journal:  Eur J Paediatr Neurol        ISSN： 1090-3798            Impact factor:   3.140


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  11 in total

1.  Relationship between aberrant brain connectivity and clinical features in Angelman Syndrome: a new method using tract based spatial statistics of DTI color-coded orientation maps.

Authors:  Vijay N Tiwari; Jeong-won Jeong; Benjamin J Wilson; Michael E Behen; Harry T Chugani; Senthil K Sundaram
Journal:  Neuroimage       Date:  2011-07-30       Impact factor: 6.556

2.  Disrupted Functional and Structural Connectivity in Angelman Syndrome.

Authors:  H M Yoon; Y Jo; W H Shim; J S Lee; T S Ko; J H Koo; M S Yum
Journal:  AJNR Am J Neuroradiol       Date:  2020-05-07       Impact factor: 3.825

3.  Allelic specificity of Ube3a expression in the mouse brain during postnatal development.

Authors:  Matthew C Judson; Jason O Sosa-Pagan; Wilmer A Del Cid; Ji Eun Han; Benjamin D Philpot
Journal:  J Comp Neurol       Date:  2014-06-01       Impact factor: 3.215

4.  Of mothers and myelin: Aberrant myelination phenotypes in mouse model of Angelman syndrome are dependent on maternal and dietary influences.

Authors:  Mark D Grier; Robert P Carson; Andre H Lagrange
Journal:  Behav Brain Res       Date:  2015-05-28       Impact factor: 3.332

5.  Molecular and Clinical Aspects of Angelman Syndrome.

Authors:  A Dagli; K Buiting; C A Williams
Journal:  Mol Syndromol       Date:  2011-07-28

6.  Two siblings suffering from Angelman Syndrome with a novel c.1146T>G mutation in UBE3A: A case report.

Authors:  Can Liu; Rui-Hua Liu; Guang-Fei Sun; Lin Yang; Qin-Liang Zheng; Shan-Ying Wei; Qing-Xia Kong; Qiu-Bo Li
Journal:  Biomed Rep       Date:  2022-04-19

7.  The Angelman syndrome protein Ube3a/E6AP is required for Golgi acidification and surface protein sialylation.

Authors:  Kathryn H Condon; Jianghai Ho; Camenzind G Robinson; Cyril Hanus; Michael D Ehlers
Journal:  J Neurosci       Date:  2013-02-27       Impact factor: 6.167

8.  Toward a Broader View of Ube3a in a Mouse Model of Angelman Syndrome: Expression in Brain, Spinal Cord, Sciatic Nerve and Glial Cells.

Authors:  Mark D Grier; Robert P Carson; Andre Hollis Lagrange
Journal:  PLoS One       Date:  2015-04-20       Impact factor: 3.240

Review 9.  Dysfunctional mTORC1 Signaling: A Convergent Mechanism between Syndromic and Nonsyndromic Forms of Autism Spectrum Disorder?

Authors:  Juliana Magdalon; Sandra M Sánchez-Sánchez; Karina Griesi-Oliveira; Andréa L Sertié
Journal:  Int J Mol Sci       Date:  2017-03-18       Impact factor: 5.923

10.  From Cortical and Subcortical Grey Matter Abnormalities to Neurobehavioral Phenotype of Angelman Syndrome: A Voxel-Based Morphometry Study.

Authors:  Gayane Aghakhanyan; Paolo Bonanni; Giovanna Randazzo; Sara Nappi; Federica Tessarotto; Lara De Martin; Francesca Frijia; Daniele De Marchi; Francesco De Masi; Beate Kuppers; Francesco Lombardo; Davide Caramella; Domenico Montanaro
Journal:  PLoS One       Date:  2016-09-14       Impact factor: 3.240
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