Literature DB >> 30363892

Paroxysmal Kinesigenic Dystonia in a Lesch-Nyhan Disease Variant.

Beatriz De La Casa-Fages1, Javier R Pérez-Sánchez1, Francisco Grandas1.   

Abstract

Entities:  

Keywords:  HPRT gene; Lesch‐Nyhan disease; kinesigenic dystonia; paroxysmal; variant

Year:  2014        PMID： 30363892      PMCID： PMC6183184          DOI： 10.1002/mdc3.12034

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


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  6 in total

Review 1.  Paroxysmal choreodystonic disorders.

Authors:  Young H Sohn; P H Lee
Journal:  Handb Clin Neurol       Date:  2011

Review 2.  Attenuated variants of Lesch-Nyhan disease.

Authors:  H A Jinnah; Irene Ceballos-Picot; Rosa J Torres; Jasper E Visser; David J Schretlen; Alfonso Verdu; Laura E Laróvere; Chung-Jen Chen; Antonello Cossu; Chien-Hui Wu; Radhika Sampat; Shun-Jen Chang; Raquel Dodelson de Kremer; William Nyhan; James C Harris; Stephen G Reich; Juan G Puig
Journal:  Brain       Date:  2010-02-22       Impact factor: 13.501

Review 3.  Delineation of the motor disorder of Lesch-Nyhan disease.

Authors:  H A Jinnah; Jasper E Visser; James C Harris; Alfonso Verdu; Laura Larovere; Irene Ceballos-Picot; Pedro Gonzalez-Alegre; Vladimir Neychev; Rosa J Torres; Olivier Dulac; Isabelle Desguerre; David J Schretlen; Kenneth L Robey; Gabor Barabas; Bastiaan R Bloem; William Nyhan; Raquel De Kremer; Gary E Eddey; Juan G Puig; Stephen G Reich
Journal:  Brain       Date:  2006-03-20       Impact factor: 13.501

4.  Identification of two new nucleotide mutations (HPRTUtrecht and HPRTMadrid) in exon 3 of the human hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene.

Authors:  A G Bouwens-Rombouts; M J van den Boogaard; J G Puig; F A Mateos; R C Hennekam; M G Tilanus
Journal:  Hum Genet       Date:  1993-06       Impact factor: 4.132

5.  Paroxysmal dyskinesias: clinical features and classification.

Authors:  M Demirkiran; J Jankovic
Journal:  Ann Neurol       Date:  1995-10       Impact factor: 10.422

6.  Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency.

Authors:  K Sege-Peterson; J Chambers; T Page; O W Jones; W L Nyhan
Journal:  Hum Mol Genet       Date:  1992-09       Impact factor: 6.150
  6 in total
  1 in total

Review 1.  Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias.

Authors:  Giacomo Garone; Alessandro Capuano; Lorena Travaglini; Federica Graziola; Fabrizia Stregapede; Ginevra Zanni; Federico Vigevano; Enrico Bertini; Francesco Nicita
Journal:  Int J Mol Sci       Date:  2020-05-20       Impact factor: 5.923
  1 in total

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