Literature DB >> 30838231

Foot Drop Dystonia Resulting from parkin (PARK2) Mutation.

Laura J de Schipper1, Agnita J W Boon2, Alexander G Munts1.   

Abstract

Entities:  

Keywords:  PARK2; case report; early‐onset Parkinson's disease; parkin

Year:  2015        PMID： 30838231      PMCID： PMC6353316          DOI： 10.1002/mdc3.12169

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


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  9 in total

1.  Association between early-onset Parkinson's disease and mutations in the parkin gene.

Authors:  C B Lücking; A Dürr; V Bonifati; J Vaughan; G De Michele; T Gasser; B S Harhangi; G Meco; P Denèfle; N W Wood; Y Agid; A Brice
Journal:  N Engl J Med       Date:  2000-05-25       Impact factor: 91.245

Review 2.  Autosomal recessive parkinsonism.

Authors:  Vincenzo Bonifati
Journal:  Parkinsonism Relat Disord       Date:  2012-01       Impact factor: 4.891

3.  Isolated limb dystonia as presenting feature of Parkin disease.

Authors:  Antonio E Elia; Francesca Del Sorbo; Luigi M Romito; Chiara Barzaghi; Barbara Garavaglia; Alberto Albanese
Journal:  J Neurol Neurosurg Psychiatry       Date:  2014-03-21       Impact factor: 10.154

Review 4.  Epidemiological, clinical, and genetic characteristics of early-onset parkinsonism.

Authors:  Anette Schrag; Jonathan M Schott
Journal:  Lancet Neurol       Date:  2006-04       Impact factor: 44.182

5.  Dopamine dysregulation syndrome in a patient with early onset Parkinsonism and Parkin gene mutations.

Authors:  Esther M Sammler; Robert J Swingler; Arlene Stuart; Miratul Muqit
Journal:  Mov Disord       Date:  2009-12-15       Impact factor: 10.338

6.  Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?

Authors:  J Tassin; A Dürr; A M Bonnet; R Gil; M Vidailhet; C B Lücking; J Y Goas; F Durif; M Abada; B Echenne; J Motte; A Lagueny; L Lacomblez; P Jedynak; B Bartholomé; Y Agid; A Brice
Journal:  Brain       Date:  2000-06       Impact factor: 13.501

7.  Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.

Authors:  Fabienne Clot; David Grabli; Cécile Cazeneuve; Emmanuel Roze; Pierre Castelnau; Brigitte Chabrol; Pierre Landrieu; Karine Nguyen; Gérard Ponsot; Myriem Abada; Diane Doummar; Philippe Damier; Roger Gil; Stéphane Thobois; Alana J Ward; Michael Hutchinson; Annick Toutain; Fabienne Picard; Agnès Camuzat; Estelle Fedirko; Chankannira Sân; Delphine Bouteiller; Eric LeGuern; Alexandra Durr; Marie Vidailhet; Alexis Brice
Journal:  Brain       Date:  2009-06-02       Impact factor: 13.501

8.  The Clinical Syndrome of Paroxysmal Exercise-Induced Dystonia: Diagnostic Outcomes and an Algorithm.

Authors:  Roberto Erro; Maria Stamelou; Christos Ganos; Matej Skorvanek; Vladimir Han; Amit Batla; Kailash P Bhatia
Journal:  Mov Disord Clin Pract       Date:  2014-04-10

Review 9.  Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease.

Authors:  Laura L Kilarski; Justin P Pearson; Victoria Newsway; Elisa Majounie; M Duleeka W Knipe; Anjum Misbahuddin; Patrick F Chinnery; David J Burn; Carl E Clarke; Marie-Helene Marion; Alistair J Lewthwaite; David J Nicholl; Nicholas W Wood; Karen E Morrison; Caroline H Williams-Gray; Jonathan R Evans; Stephen J Sawcer; Roger A Barker; Mirdhu M Wickremaratchi; Yoav Ben-Shlomo; Nigel M Williams; Huw R Morris
Journal:  Mov Disord       Date:  2012-09-06       Impact factor: 10.338
  9 in total
  1 in total

1.  A metabolomic study of cervical dystonia.

Authors:  Chang Liu; Laura Scorr; Gamze Kilic-Berkmen; Adam Cotton; Stewart A Factor; Alan Freeman; ViLinh Tran; Ken Liu; Karan Uppal; Dean Jones; H A Jinnah; Yan V Sun
Journal:  Parkinsonism Relat Disord       Date:  2020-11-26       Impact factor: 4.891
  1 in total

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