Literature DB >> 30713886

WDR45 Mutation in Atypical Rett Syndrome with Brain Iron Accumulation.

Sarah J Crisp1, Esther Meyer2, Allison Gregory3, Hayley Archer4, Susan Hayflick3,5,6, Manju A Kurian2,7, Rajith de Silva1.   

Abstract

Entities:  

Keywords:  BPAN; Rett syndrome; WDR45; developmental delay; neurodegeneration with brain iron accumulation

Year:  2015        PMID： 30713886      PMCID： PMC6353382          DOI： 10.1002/mdc3.12120

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  4 in total

1.  MRI, MR spectroscopy, and diffusion tensor imaging findings in patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA).

Authors:  Yukio Kimura; Noriko Sato; Kenji Sugai; Shinsuke Maruyama; Miho Ota; Kouhei Kamiya; Kimiteru Ito; Yasuhiro Nakata; Masayuki Sasaki; Hideharu Sugimoto
Journal:  Brain Dev       Date:  2012-08-11       Impact factor: 1.961

2.  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 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

4.  Rett syndrome: revised diagnostic criteria and nomenclature.

Authors:  Jeffrey L Neul; Walter E Kaufmann; Daniel G Glaze; John Christodoulou; Angus J Clarke; Nadia Bahi-Buisson; Helen Leonard; Mark E S Bailey; N Carolyn Schanen; Michele Zappella; Alessandra Renieri; Peter Huppke; Alan K Percy
Journal:  Ann Neurol       Date:  2010-12       Impact factor: 10.422
  4 in total

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