Literature DB >> 31392251

A Severe l-Dopa Responsive Dystonia With Slow and Continuous Improvement in a Patient With a Novel Mutation in the Tyrosine Hydroxylase Gene.

Christian Marques Couto1, Antônio Pedro Vargas2, Fernando Dos Santos Coimbra1, Olimar Leite de Assis Cunha1, Lucia Willadino Braga3.   

Abstract

Entities:  

Year:  2019        PMID： 31392251      PMCID： PMC6660226          DOI： 10.1002/mdc3.12769

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


× No keyword cloud information.
  8 in total

1.  Drug-induced motor complications in dopa-responsive dystonia: implications for the pathogenesis of dyskinesias and motor fluctuations.

Authors:  R de la Fuente-Fernández
Journal:  Clin Neuropharmacol       Date:  1999 Jul-Aug       Impact factor: 1.592

2.  Predicting deleterious amino acid substitutions.

Authors:  P C Ng; S Henikoff
Journal:  Genome Res       Date:  2001-05       Impact factor: 9.043

3.  MutationTaster2: mutation prediction for the deep-sequencing age.

Authors:  Jana Marie Schwarz; David N Cooper; Markus Schuelke; Dominik Seelow
Journal:  Nat Methods       Date:  2014-04       Impact factor: 28.547

4.  Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency.

Authors:  A Schiller; R A Wevers; G C H Steenbergen; N Blau; H H Jung
Journal:  Neurology       Date:  2004-10-26       Impact factor: 9.910

5.  Levodopa-induced dyskinesias in tyrosine hydroxylase deficiency.

Authors:  Roser Pons; Dimitris Syrengelas; Sotiris Youroukos; Irene Orfanou; Arqirios Dinopoulos; Bru Cormand; Aida Ormazabal; Angels Garzía-Cazorla; Mercedes Serrano; Rafael Artuch
Journal:  Mov Disord       Date:  2013-02-06       Impact factor: 10.338

6.  A method and server for predicting damaging missense mutations.

Authors:  Ivan A Adzhubei; Steffen Schmidt; Leonid Peshkin; Vasily E Ramensky; Anna Gerasimova; Peer Bork; Alexey S Kondrashov; Shamil R Sunyaev
Journal:  Nat Methods       Date:  2010-04       Impact factor: 28.547

7.  Lessons from a remarkable family with dopa-responsive dystonia.

Authors:  G Harwood; R Hierons; N A Fletcher; C D Marsden
Journal:  J Neurol Neurosurg Psychiatry       Date:  1994-04       Impact factor: 10.154

8.  A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome.

Authors:  B Lüdecke; B Dworniczak; K Bartholomé
Journal:  Hum Genet       Date:  1995-01       Impact factor: 4.132
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.