Literature DB >> 24610255

Novel mutation of the WDR45 gene causing beta-propeller protein-associated neurodegeneration.

Geetanjali S Rathore1, Christian P Schaaf, Amber J Stocco.   

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Year:  2014        PMID： 24610255     DOI： 10.1002/mds.25868

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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  10 in total

1.  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

Review 2.  Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism.

Authors:  Darius Ebrahimi-Fakhari; Afshin Saffari; Lara Wahlster; Jenny Lu; Susan Byrne; Georg F Hoffmann; Heinz Jungbluth; Mustafa Sahin
Journal:  Brain       Date:  2015-12-29       Impact factor: 13.501

Review 3.  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

4.  Brain iron accumulation affects myelin-related molecular systems implicated in a rare neurogenetic disease family with neuropsychiatric features.

Authors:  M Heidari; D M Johnstone; B Bassett; R M Graham; A C G Chua; M J House; J F Collingwood; C Bettencourt; H Houlden; M Ryten; J K Olynyk; D Trinder; E A Milward
Journal:  Mol Psychiatry       Date:  2016-01-05       Impact factor: 15.992

5.  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

6.  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

7.  Pathological relationships involving iron and myelin may constitute a shared mechanism linking various rare and common brain diseases.

Authors:  Moones Heidari; Sam H Gerami; Brianna Bassett; Ross M Graham; Anita C G Chua; Ritambhara Aryal; Michael J House; Joanna F Collingwood; Conceição Bettencourt; Henry Houlden; Mina Ryten; John K Olynyk; Debbie Trinder; Daniel M Johnstone; Elizabeth A Milward
Journal:  Rare Dis       Date:  2016-06-22

8.  DNA Methylation Patterns of Chronic Explosive Breaching in U.S. Military Warfighters.

Authors:  Zhaoyu Wang; Caroline M Wilson; Yongchao Ge; Jeffrey Nemes; Christina LaValle; Angela Boutté; Walter Carr; Gary Kamimori; Fatemeh Haghighi
Journal:  Front Neurol       Date:  2020-10-23       Impact factor: 4.003

Review 9.  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

10.  A comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouse.

Authors:  Caroline A Biagosch; Silvia Vidali; Holger Prokisch; Arcangela Iuso; Michael Faerberboeck; Svenja-Viola Hensler; Lore Becker; Oana V Amarie; Antonio Aguilar-Pimentel; Lillian Garrett; Tanja Klein-Rodewald; Birgit Rathkolb; Enrica Zanuttigh; Julia Calzada-Wack; Patricia da Silva-Buttkus; Jan Rozman; Irina Treise; Helmut Fuchs; Valerie Gailus-Durner; Martin Hrabě de Angelis; Dirk Janik; Wolfgang Wurst; Johannes A Mayr; Thomas Klopstock; Thomas Meitinger
Journal:  Mamm Genome       Date:  2021-05-27       Impact factor: 2.957
  10 in total

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