Literature DB >> 34405108

Ataxia and Action Myoclonus Related to Novel Mutations in ATP13A2 Gene.

Leire Manrique1, Antonio Sánchez-Rodríguez1, Ana L Pelayo-Negro1, Marc Corral-Juan2, Antoni Matilla-Dueñas2, Jon Infante1.   

Abstract

Entities:  

Keywords:  ATP13A2; Kufor‐Rakeb; ataxia; mutation; myoclonus

Year:  2021        PMID： 34405108      PMCID： PMC8354080          DOI： 10.1002/mdc3.13260

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


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  10 in total

Review 1.  The role of ATP13A2 in Parkinson's disease: Clinical phenotypes and molecular mechanisms.

Authors:  Jin-Sung Park; Nicholas F Blair; Carolyn M Sue
Journal:  Mov Disord       Date:  2015-04-21       Impact factor: 10.338

2.  Ataxia-myoclonus syndrome due to a novel homozygous ATP13A2 mutation.

Authors:  Giovanna De Michele; Daniele Galatolo; Maria Lieto; Tommasina Fico; Francesco Saccà; Filippo M Santorelli; Alessandro Filla
Journal:  Parkinsonism Relat Disord       Date:  2020-06-07       Impact factor: 4.891

3.  Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).

Authors:  Alejandro Estrada-Cuzcano; Shaun Martin; Teodora Chamova; Matthis Synofzik; Dagmar Timmann; Tine Holemans; Albena Andreeva; Jennifer Reichbauer; Riet De Rycke; Dae-In Chang; Sarah van Veen; Jean Samuel; Ludger Schöls; Thorsten Pöppel; Danny Mollerup Sørensen; Bob Asselbergh; Christine Klein; Stephan Zuchner; Albena Jordanova; Peter Vangheluwe; Ivailo Tournev; Rebecca Schüle
Journal:  Brain       Date:  2017-02       Impact factor: 13.501

4.  Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase.

Authors:  Alfredo Ramirez; André Heimbach; Jan Gründemann; Barbara Stiller; Dan Hampshire; L Pablo Cid; Ingrid Goebel; Ammar F Mubaidin; Abdul-Latif Wriekat; Jochen Roeper; Amir Al-Din; Axel M Hillmer; Meliha Karsak; Birgit Liss; C Geoffrey Woods; Maria I Behrens; Christian Kubisch
Journal:  Nat Genet       Date:  2006-09-10       Impact factor: 38.330

5.  Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9).

Authors:  H Eiberg; L Hansen; L Korbo; I M Nielsen; K Svenstrup; S Bech; L H Pinborg; L Friberg; L E Hjermind; O R Olsen; J E Nielsen
Journal:  Clin Genet       Date:  2011-07-18       Impact factor: 4.438

6.  Psychiatric Manifestations of ATP13A2 Mutations.

Authors:  Bettina Balint; Joana Damasio; Francesca Magrinelli; Rita Guerreiro; Jose Bras; Kailash P Bhatia
Journal:  Mov Disord Clin Pract       Date:  2020-09-04

7.  Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome.

Authors:  A S Najim al-Din; A Wriekat; A Mubaidin; M Dasouki; M Hiari
Journal:  Acta Neurol Scand       Date:  1994-05       Impact factor: 3.209

8.  Clinical and ultrastructural findings in an ataxic variant of Kufor-Rakeb syndrome.

Authors:  Anna Pietrzak; Magdalena Badura-Stronka; Tiia Kangas-Kontio; Paulina Felczak; Wojciech Kozubski; Anna Latos-Bielenska; Teresa Wierzba-Bobrowicz; Jolanta Florczak-Wyspianska
Journal:  Folia Neuropathol       Date:  2019       Impact factor: 2.038

9.  Action Myoclonus and Seizure in Kufor-Rakeb Syndrome.

Authors:  Mohammad Rohani; Anthony E Lang; Farzad Sina; Elahe Elahi; Alfonso Fasano; John Hardy; Jose Bras; Afagh Alavi
Journal:  Mov Disord Clin Pract       Date:  2017-12-28

10.  Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis.

Authors:  Jose Bras; Alain Verloes; Susanne A Schneider; Sara E Mole; Rita J Guerreiro
Journal:  Hum Mol Genet       Date:  2012-03-02       Impact factor: 6.150
  10 in total

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