Literature DB >> 27869329

Novel compound heterozygous synaptojanin-1 mutation causes l-dopa-responsive dystonia-parkinsonism syndrome.

Marc-Alexander Rauschendorf1, Meike Jost2, Friedrich Stock1, Andreas Zimmer1, Bernd Rösler1, Michel Rijntjes2, Tobias Piroth2, Volker Arnd Coenen3, Peter Christoph Reinacher3, Philipp T Meyer4, Lars Frings4, Cornelius Weiller2, Judith Fischer1, Stephan Klebe2.   

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Year:  2016        PMID： 27869329     DOI： 10.1002/mds.26876

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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  5 in total

Review 1.  New Genes Causing Hereditary Parkinson's Disease or Parkinsonism.

Authors:  Andreas Puschmann
Journal:  Curr Neurol Neurosci Rep       Date:  2017-09       Impact factor: 5.081

2.  Expanding the Spectrum of Dopa-Responsive Dystonia (DRD) and Proposal for New Definition: DRD, DRD-plus, and DRD Look-alike.

Authors:  Woong-Woo Lee; Beomseok Jeon; Ryul Kim
Journal:  J Korean Med Sci       Date:  2018-05-24       Impact factor: 2.153

Review 3.  Epigenetics in Lewy Body Diseases: Impact on Gene Expression, Utility as a Biomarker, and Possibilities for Therapy.

Authors:  Aintzane Urbizu; Katrin Beyer
Journal:  Int J Mol Sci       Date:  2020-07-02       Impact factor: 5.923

4.  Clinical Variability of SYNJ1-Associated Early-Onset Parkinsonism.

Authors:  Suzanne Lesage; Graziella Mangone; Christelle Tesson; Hélène Bertrand; Mustapha Benmahdjoub; Selma Kesraoui; Mohamed Arezki; Andrew Singleton; Jean-Christophe Corvol; Alexis Brice
Journal:  Front Neurol       Date:  2021-03-25       Impact factor: 4.003

5.  Synaptic AP2 CCV life cycle regulation by the Eps15, ITSN1, Sgip1/AP2, synaptojanin1 interactome.

Authors:  R Mishra; G F Sengül; E Candiello; P Schu
Journal:  Sci Rep       Date:  2021-04-13       Impact factor: 4.379
  5 in total

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