Literature DB >> 10514829

Dentatorubral-pallidoluysian atrophy (DRPLA): clinical features and molecular genetics.

S Tsuji1.   

Abstract

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Year:  1999        PMID： 10514829

Source DB:  PubMed          Journal:  Adv Neurol        ISSN： 0091-3952


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  6 in total

1.  Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing.

Authors:  Victor E Tapia; Emilia Nicolaescu; Caleb B McDonald; Valeria Musi; Tsutomu Oka; Yujin Inayoshi; Adam C Satteson; Virginia Mazack; Jasper Humbert; Christian J Gaffney; Monique Beullens; Charles E Schwartz; Christiane Landgraf; Rudolf Volkmer; Annalisa Pastore; Amjad Farooq; Mathieu Bollen; Marius Sudol
Journal:  J Biol Chem       Date:  2010-04-21       Impact factor: 5.157

Review 2.  New insight into neurodegeneration: the role of proteomics.

Authors:  Ramavati Pal; Guido Alves; Jan Petter Larsen; Simon Geir Møller
Journal:  Mol Neurobiol       Date:  2013-12-10       Impact factor: 5.590

Review 3.  Huntington's Disease, Huntington's Disease Look-Alikes‎, and Benign Hereditary Chorea: What's New?

Authors:  Susanne A Schneider; Thomas Bird
Journal:  Mov Disord Clin Pract       Date:  2016-01-27

Review 4.  Atrophin proteins: an overview of a new class of nuclear receptor corepressors.

Authors:  Lei Wang; Chih-Cheng Tsai
Journal:  Nucl Recept Signal       Date:  2008-10-31

5.  Case report of optic atrophy in Dentatorubropallidoluysian Atrophy (DRPLA).

Authors:  Michael R Silver; Kapil D Sethi; Shyamal H Mehta; Fenwick T Nichols; John C Morgan
Journal:  BMC Neurol       Date:  2015-12-18       Impact factor: 2.474

6.  Case report: Corneal endothelial degeneration and optic atrophy in dentatorubral-pallidoluysian atrophy quantified by specular micrography and optical coherence tomography.

Authors:  Shunya Takizawa; Hiroto Mitamura; Yuko Ohnuki; Kenji Kawai; Yoichi Ohnuki; Eiichiro Nagata; Wakoh Takahashi
Journal:  Front Neurol       Date:  2022-09-13       Impact factor: 4.086
  6 in total

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