Literature DB >> 30713893

Stereotypic Hand Movements in β-Propeller Protein-Associated Neurodegeneration: First Video Report.

Shumpei Uchino1, Hirotomo Saitsu2, Satoko Kumada1, Yasuhiro Nakata3, Naomichi Matsumoto2.   

Abstract

Entities:  

Keywords:  Rett syndrome; stereotypic hand movements; β‐propeller protein‐associated neurodegeneration

Year:  2015        PMID： 30713893      PMCID： PMC6353478          DOI： 10.1002/mdc3.12158

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


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  7 in total

1.  Early manifestations of BPAN in a pediatric patient.

Authors:  Nobuhiko Okamoto; Tae Ikeda; Tatsuji Hasegawa; Yuto Yamamoto; Kazumi Kawato; Tomohiro Komoto; Issei Imoto
Journal:  Am J Med Genet A       Date:  2014-09-26       Impact factor: 2.802

2.  De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood.

Authors:  Hirotomo Saitsu; Taki Nishimura; Kazuhiro Muramatsu; Hirofumi Kodera; Satoko Kumada; Kenji Sugai; Emi Kasai-Yoshida; Noriko Sawaura; Hiroya Nishida; Ai Hoshino; Fukiko Ryujin; Seiichiro Yoshioka; Kiyomi Nishiyama; Yukiko Kondo; Yoshinori Tsurusaki; Mitsuko Nakashima; Noriko Miyake; Hirokazu Arakawa; Mitsuhiro Kato; Noboru Mizushima; Naomichi Matsumoto
Journal:  Nat Genet       Date:  2013-02-24       Impact factor: 38.330

3.  First video report of static encephalopathy of childhood with neurodegeneration in adulthood.

Authors:  Emi Kasai-Yoshida; Satoko Kumada; Akira Yagishita; Konomi Shimoda; Ikuko Sato-Shirai; Yasuo Hachiya; Eiji Kurihara
Journal:  Mov Disord       Date:  2013-02-06       Impact factor: 10.338

4.  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

5.  De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain.

Authors:  Chihiro Ohba; Shin Nabatame; Yoshitaka Iijima; Kiyomi Nishiyama; Yoshinori Tsurusaki; Mitsuko Nakashima; Noriko Miyake; Fumiaki Tanaka; Keiichi Ozono; Hirotomo Saitsu; Naomichi Matsumoto
Journal:  J Hum Genet       Date:  2014-03-13       Impact factor: 3.172

6.  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

7.  Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

Authors:  Tobias B Haack; Penelope Hogarth; Michael C Kruer; Allison Gregory; Thomas Wieland; Thomas Schwarzmayr; Elisabeth Graf; Lynn Sanford; Esther Meyer; Eleanna Kara; Stephan M Cuno; Sami I Harik; Vasuki H Dandu; Nardo Nardocci; Giovanna Zorzi; Todd Dunaway; Mark Tarnopolsky; Steven Skinner; Steven Frucht; Era Hanspal; Connie Schrander-Stumpel; Delphine Héron; Cyril Mignot; Barbara Garavaglia; Kailash Bhatia; John Hardy; Tim M Strom; Nathalie Boddaert; Henry H Houlden; Manju A Kurian; Thomas Meitinger; Holger Prokisch; Susan J Hayflick
Journal:  Am J Hum Genet       Date:  2012-11-21       Impact factor: 11.025
  7 in total
  3 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.  Neuroimaging Pearls from the MDS Congress Video Challenge. Part 1: Genetic Disorders.

Authors:  Diana A Olszewska; Sapna Rawal; Conor Fearon; Paula Alcaide-Leon; Rick Stell; Vijayashankar Paramanandan; Tim Lynch; Tania Jawad; Padmaja Vittal; Brandon Barton; Hiroaki Miyajima; Satoshi Kono; Rukmini Mridula Kandadai; Rupam Borgohain; Anthony E Lang
Journal:  Mov Disord Clin Pract       Date:  2022-02-03

Review 3.  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
  3 in total

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