Literature DB >> 26990861

PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family.

Marialuisa Quadri1, Simone Olgiati1, Mariachiara Sensi2, Francesca Gualandi3, Elisabetta Groppo4, Vittorio Rispoli4, Josja Graafland1, Guido J Breedveld1, Giovanni Fabbrini5, Alfredo Berardelli5, Vincenzo Bonifati1.   

Abstract

Entities:  

Keywords:  DYT16; dystonia; founder mutation; genetics; parkinsonism

Mesh：

Substances：

Year:  2016        PMID： 26990861     DOI： 10.1002/mds.26583

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


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  10 in total

1.  Imaging Evidence of Nigrostriatal Degeneration in DYT-PRKRA.

Authors:  Maria João Pinto; Ana Oliveira; Maria José Rosas; João Massano
Journal:  Mov Disord Clin Pract       Date:  2020-04-06

2.  A truncated PACT protein resulting from a frameshift mutation reported in movement disorder DYT16 triggers caspase activation and apoptosis.

Authors:  Samuel B Burnett; Lauren S Vaughn; Joelle M Strom; Ashley Francois; Rekha C Patel
Journal:  J Cell Biochem       Date:  2019-06-27       Impact factor: 4.429

3.  PRKRAP1 Pseudogene Complicating the Diagnosis of Young-Onset Dystonia Due to PRKRA Gene Disease-Causing Variants (DYT-PRKRA).

Authors:  Joana Afonso Ribeiro; Mário Sousa; Isabel Alonso; Fradique Moreira; Ricardo Pereira; Filipe Palavra
Journal:  Mov Disord Clin Pract       Date:  2022-03-04

4.  DYT-PRKRA Mutation P222L Enhances PACT's Stimulatory Activity on Type I Interferon Induction.

Authors:  Lauren S Vaughn; Kenneth Frederick; Samuel B Burnett; Nutan Sharma; D Cristopher Bragg; Sarah Camargos; Francisco Cardoso; Rekha C Patel
Journal:  Biomolecules       Date:  2022-05-17

Review 5.  The Patho-Neurophysiological Basis and Treatment of Focal Laryngeal Dystonia: A Narrative Review and Two Case Reports Applying TMS over the Laryngeal Motor Cortex.

Authors:  Maja Rogić Vidaković; Ivana Gunjača; Josipa Bukić; Vana Košta; Joško Šoda; Ivan Konstantinović; Braco Bošković; Irena Bilić; Nikolina Režić Mužinić
Journal:  J Clin Med       Date:  2022-06-15       Impact factor: 4.964

6.  Thiamine and dystonia 16.

Authors:  Antonio Costantini; Erika Trevi; Maria Immacolata Pala; Roberto Fancellu
Journal:  BMJ Case Rep       Date:  2016-07-22

Review 7.  Update on the Genetics of Dystonia.

Authors:  Katja Lohmann; Christine Klein
Journal:  Curr Neurol Neurosci Rep       Date:  2017-03       Impact factor: 5.081

Review 8.  Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome.

Authors:  Stephen Tisch; Kishore Raj Kumar
Journal:  Front Neurol       Date:  2021-01-08       Impact factor: 4.003

9.  EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia.

Authors:  Demy J S Kuipers; Wim Mandemakers; Chin-Song Lu; Simone Olgiati; Guido J Breedveld; Christina Fevga; Vera Tadic; Miryam Carecchio; Bradley Osterman; Lena Sagi-Dain; Yah-Huei Wu-Chou; Chiung C Chen; Hsiu-Chen Chang; Shey-Lin Wu; Tu-Hsueh Yeh; Yi-Hsin Weng; Antonio E Elia; Celeste Panteghini; Nicolas Marotta; Martje G Pauly; Andrea A Kühn; Jens Volkmann; Baiba Lace; Inge A Meijer; Krishna Kandaswamy; Marialuisa Quadri; Barbara Garavaglia; Katja Lohmann; Peter Bauer; Niccolò E Mencacci; Steven J Lubbe; Christine Klein; Aida M Bertoli-Avella; Vincenzo Bonifati
Journal:  Ann Neurol       Date:  2020-12-15       Impact factor: 10.422

Review 10.  Combined dystonias: clinical and genetic updates.

Authors:  Anne Weissbach; Gerard Saranza; Aloysius Domingo
Journal:  J Neural Transm (Vienna)       Date:  2020-10-24       Impact factor: 3.575
  10 in total

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