Literature DB >> 28361255

Novel WDR45 mutation causing beta-propeller protein associated neurodegeneration (BPAN) in two monozygotic twins.

Rui Araújo1, Ana Garabal2, Mariana Baptista3, Sílvia Carvalho3, Crisbety Pinho4, Joaquim de Sá2, Mónica Vasconcelos5.   

Abstract

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Year:  2017        PMID： 28361255     DOI： 10.1007/s00415-017-8475-2

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  3 in total

1.  β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.

Authors:  Susan J Hayflick; Michael C Kruer; Allison Gregory; Tobias B Haack; Manju A Kurian; Henry H Houlden; James Anderson; Nathalie Boddaert; Lynn Sanford; Sami I Harik; Vasuki H Dandu; Nardo Nardocci; Giovanna Zorzi; Todd Dunaway; Mark Tarnopolsky; Steven Skinner; Kenton R Holden; Steven Frucht; Era Hanspal; Connie Schrander-Stumpel; Cyril Mignot; Delphine Héron; Dawn E Saunders; Margaret Kaminska; Jean-Pierre Lin; Karine Lascelles; Stephan M Cuno; Esther Meyer; Barbara Garavaglia; Kailash Bhatia; Rajith de Silva; Sarah Crisp; Peter Lunt; Martyn Carey; John Hardy; Thomas Meitinger; Holger Prokisch; Penelope Hogarth
Journal:  Brain       Date:  2013-05-17       Impact factor: 13.501

Review 2.  WDR45 mutations in Rett (-like) syndrome and developmental delay: Case report and an appraisal of the literature.

Authors:  Sabine Hoffjan; Aysegül Ibisler; Anne Tschentscher; Gabriele Dekomien; Carla Bidinost; Alberto L Rosa
Journal:  Mol Cell Probes       Date:  2016-01-11       Impact factor: 2.365

Review 3.  Neuroimaging features of neurodegeneration with brain iron accumulation.

Authors:  M C Kruer; N Boddaert; S A Schneider; H Houlden; K P Bhatia; A Gregory; J C Anderson; W D Rooney; P Hogarth; S J Hayflick
Journal:  AJNR Am J Neuroradiol       Date:  2011-09-15       Impact factor: 3.825
  3 in total
  4 in total

1.  WDR45 contributes to neurodegeneration through regulation of ER homeostasis and neuronal death.

Authors:  Huida Wan; Qi Wang; Xiuting Chen; Qiufang Zeng; Yanjiao Shao; Houqin Fang; Xun Liao; Hu-Song Li; Ming-Gang Liu; Tian-Le Xu; Miaomiao Diao; Dali Li; Bo Meng; Bin Tang; Zhuohua Zhang; Lujian Liao
Journal:  Autophagy       Date:  2019-06-23       Impact factor: 16.016

2.  Phenotypic and Imaging Spectrum Associated With WDR45.

Authors:  Laura A Adang; Amy Pizzino; Alka Malhotra; Holly Dubbs; Catherine Williams; Omar Sherbini; Anna-Kaisa Anttonen; Gaetan Lesca; Tarja Linnankivi; Chloé Laurencin; Matthieu Milh; Charles Perrine; Christian P Schaaf; Anne-Lise Poulat; Dorothee Ville; Tanner Hagelstrom; Denise L Perry; Ryan J Taft; Amy Goldstein; Arastoo Vossough; Ingo Helbig; Adeline Vanderver
Journal:  Pediatr Neurol       Date:  2020-03-11       Impact factor: 3.372

3.  Beta-propeller protein-associated neurodegeneration: a case report and review of the literature.

Authors:  Kjersti Eline Stige; Ivar Otto Gjerde; Gunnar Houge; Per Morten Knappskog; Charalampos Tzoulis
Journal:  Clin Case Rep       Date:  2018-01-04

Review 4.  WDR45, one gene associated with multiple neurodevelopmental disorders.

Authors:  Yingying Cong; Vincent So; Marina A J Tijssen; Dineke S Verbeek; Fulvio Reggiori; Mario Mauthe
Journal:  Autophagy       Date:  2021-04-12       Impact factor: 16.016
  4 in total

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