Literature DB >> 23647500

WDR45 mutations define a novel disease entity--static encephalopathy of childhood with neurodegeneration in adulthood.

F Aminkeng1.   

Abstract

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Year:  2013        PMID： 23647500     DOI： 10.1111/cge.12183

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  4 in total

Review 1.  WDR45 mutations in three male patients with West syndrome.

Authors:  Mitsuko Nakashima; Kyoko Takano; Yu Tsuyusaki; Shinsaku Yoshitomi; Masayuki Shimono; Yoshihiro Aoki; Mitsuhiro Kato; Noriko Aida; Takeshi Mizuguchi; Satoko Miyatake; Noriko Miyake; Hitoshi Osaka; Hirotomo Saitsu; Naomichi Matsumoto
Journal:  J Hum Genet       Date:  2016-03-31       Impact factor: 3.172

2.  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

3.  Patient Affected by Beta-Propeller Protein-Associated Neurodegeneration: A Therapeutic Attempt with Iron Chelation Therapy.

Authors:  Mattia Fonderico; Michele Laudisi; Nico Golfrè Andreasi; Stefania Bigoni; Costanza Lamperti; Celeste Panteghini; Barbara Garavaglia; Miryam Carecchio; Elia Antonio Emanuele; Gian L Forni; Enrico Granieri
Journal:  Front Neurol       Date:  2017-08-21       Impact factor: 4.003

4.  Autistic Siblings with Novel Mutations in Two Different Genes: Insight for Genetic Workups of Autistic Siblings and Connection to Mitochondrial Dysfunction.

Authors:  Barrett J Burger; Shannon Rose; Sirish C Bennuri; Pritmohinder S Gill; Marie L Tippett; Leanna Delhey; Stepan Melnyk; Richard E Frye
Journal:  Front Pediatr       Date:  2017-10-12       Impact factor: 3.418
  4 in total

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