Literature DB >> 35005074

Neurodevelopmental Disorder and Late-Onset Degenerative Parkinsonism in a Patient with a WDR45 Defect.

Filippo Manti1, Celeste Panteghini2, Barbara Garavaglia2, Vincenzo Leuzzi1.   

Abstract

Entities:  

Year:  2021        PMID： 35005074      PMCID： PMC8721834          DOI： 10.1002/mdc3.13365

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


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  9 in total

1.  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

2.  Late diagnosis of fucosidosis in a child with progressive fixed dystonia, bilateral pallidal lesions and red spots on the skin.

Authors:  Matthias Gautschi; Laura Merlini; Anne-Marie Calza; Susan Hayflick; Jean-Marc Nuoffer; Joel Fluss
Journal:  Eur J Paediatr Neurol       Date:  2014-02-25       Impact factor: 3.140

Review 3.  On the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation.

Authors:  C Tello; A Darling; V Lupo; B Pérez-Dueñas; C Espinós
Journal:  Clin Genet       Date:  2017-09-25       Impact factor: 4.438

4.  Substantia Nigra Swelling and Dentate Nucleus T2 Hyperintensity May Be Early Magnetic Resonance Imaging Signs of β-Propeller Protein-Associated Neurodegeneration.

Authors:  Camilla Russo; Anna Ardissone; Elena Freri; Serena Gasperini; Marco Moscatelli; Giovanna Zorzi; Celeste Panteghini; Barbara Castellotti; Barbara Garavaglia; Nardo Nardocci; Luisa Chiapparini
Journal:  Mov Disord Clin Pract       Date:  2018-11-09

5.  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 6.  Parkinsonism in children: Clinical classification and etiological spectrum.

Authors:  Vincenzo Leuzzi; Francesca Nardecchia; Roser Pons; Serena Galosi
Journal:  Parkinsonism Relat Disord       Date:  2020-10-21       Impact factor: 4.891

Review 7.  Angelman syndrome: review of clinical and molecular aspects.

Authors:  Lynne M Bird
Journal:  Appl Clin Genet       Date:  2014-05-16

8.  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

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
  9 in total

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