Literature DB >> 24609975

The recurrent mutation Arg258Gln in SYNJ1 (PARK20) is not a common cause of Parkinson's disease.

Susen Winkler1, Eva-Juliane Vollstedt, Meike Kasten, Daniel Alvarez-Fischer, Christine Klein, Katja Lohmann.   

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Year:  2014        PMID： 24609975     DOI： 10.1007/s00415-014-7306-y

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  6 in total

Review 1.  Fixing the broken system of genetic locus symbols: Parkinson disease and dystonia as examples.

Authors:  Connie Marras; Katja Lohmann; Anthony Lang; Christine Klein
Journal:  Neurology       Date:  2012-03-27       Impact factor: 9.910

2.  The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures.

Authors:  Catharine E Krebs; Siamak Karkheiran; James C Powell; Mian Cao; Vladimir Makarov; Hossein Darvish; Gilbert Di Paolo; Ruth H Walker; Gholam Ali Shahidi; Joseph D Buxbaum; Pietro De Camilli; Zhenyu Yue; Coro Paisán-Ruiz
Journal:  Hum Mutat       Date:  2013-07-19       Impact factor: 4.878

3.  Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism.

Authors:  Marialuisa Quadri; Mingyan Fang; Marina Picillo; Simone Olgiati; Guido J Breedveld; Josja Graafland; Bin Wu; Fengping Xu; Roberto Erro; Marianna Amboni; Sabina Pappatà; Mario Quarantelli; Grazia Annesi; Aldo Quattrone; Hsin F Chien; Egberto R Barbosa; Ben A Oostra; Paolo Barone; Jun Wang; Vincenzo Bonifati
Journal:  Hum Mutat       Date:  2013-08-06       Impact factor: 4.878

4.  Clinical progression of SYNJ1-related early onset atypical parkinsonism: 3-year follow up of the original Italian family.

Authors:  Marina Picillo; Angelo Ranieri; Giuseppe Orefice; Vincenzo Bonifati; Paolo Barone
Journal:  J Neurol       Date:  2014-02-16       Impact factor: 4.849

5.  Cohort Profile: a population-based cohort to study non-motor symptoms in parkinsonism (EPIPARK).

Authors:  Meike Kasten; Johann Hagenah; Julia Graf; Anne Lorwin; Eva-Juliane Vollstedt; Elke Peters; Alexander Katalinic; Heiner Raspe; Christine Klein
Journal:  Int J Epidemiol       Date:  2012-12-19       Impact factor: 7.196

Review 6.  Genetics of Parkinson's disease--state of the art, 2013.

Authors:  Vincenzo Bonifati
Journal:  Parkinsonism Relat Disord       Date:  2014-01       Impact factor: 4.891
  6 in total
  1 in total

Review 1.  Synaptojanin 1 mutation in Parkinson's disease brings further insight into the neuropathological mechanisms.

Authors:  Valérie Drouet; Suzanne Lesage
Journal:  Biomed Res Int       Date:  2014-09-16       Impact factor: 3.411
  1 in total

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