Literature DB >> 19762912

Complementary mutations in seipin gene in a patient with Berardinelli-Seip congenital lipodystrophy and dystonia: phenotype variability suggests multiple roles of seipin gene.

Y-R Wu, S-I Hung, Y-C Chang, S-T Chen, Y-L Lin, W-H Chung.   

Abstract

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Year:  2009        PMID： 19762912     DOI： 10.1136/jnnp.2008.165977

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  4 in total

1.  [A case report of congenital generalized lipodystrophy].

Authors:  Rui Liu; Hui-Jun Tan; Jia-Jia Liu; Yuan-Zong Song
Journal:  Zhongguo Dang Dai Er Ke Za Zhi       Date:  2018-10

Review 2.  Seipin: from human disease to molecular mechanism.

Authors:  Bethany R Cartwright; Joel M Goodman
Journal:  J Lipid Res       Date:  2012-04-02       Impact factor: 5.922

3.  Celia's encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant.

Authors:  Sofía Sánchez-Iglesias; Melissa Crocker; Mar O'Callaghan; Alejandra Darling; Angels García-Cazorla; Rosario Domingo-Jiménez; Ana Castro; Antía Fernández-Pombo; Álvaro Ruibal; Pablo Aguiar; Miguel Garrido-Pumar; Antonio Rodríguez-Núñez; Julián Álvarez-Escudero; Rebecca J Brown; David Araújo-Vilar
Journal:  Neurogenetics       Date:  2019-03-23       Impact factor: 2.660

4.  Medical management of a child with congenital generalized lipodystrophy accompanied with progressive myoclonic epilepsy: A case report.

Authors:  Yi Zhang; Xiaofei Chen; Feixiang Luo; Lihua Jiang; Jialu Xu; Shuohui Chen
Journal:  Medicine (Baltimore)       Date:  2019-11       Impact factor: 1.817
  4 in total

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