Literature DB >> 23483595

The multiple faces of the ATP1A3-related dystonic movement disorder.

Anne Roubergue1, Emmanuel Roze, Sandrine Vuillaumier-Barrot, Marie-Joséphine Fontenille, Aurélie Méneret, Marie Vidailhet, Bertrand Fontaine, Diane Doummar, Bertrand Philibert, Florence Riant, Sophie Nicole.   

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Year:  2013        PMID： 23483595     DOI： 10.1002/mds.25396

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


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  29 in total

1.  Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition.

Authors:  Elena Arystarkhova; Ihtsham U Haq; Timothy Luebbert; Fanny Mochel; Rachel Saunders-Pullman; Susan B Bressman; Polina Feschenko; Cynthia Salazar; Jared F Cook; Scott Demarest; Allison Brashear; Laurie J Ozelius; Kathleen J Sweadner
Journal:  Neurobiol Dis       Date:  2019-08-16       Impact factor: 5.996

2.  Revising rapid-onset dystonia-parkinsonism: Broadening indications for ATP1A3 testing.

Authors:  Ihtsham U Haq; Beverly M Snively; Kathleen J Sweadner; Cynthia K Suerken; Jared F Cook; Laurie J Ozelius; Charlotte Miller; William V McCall; Christopher T Whitlow; Allison Brashear
Journal:  Mov Disord       Date:  2019-07-30       Impact factor: 10.338

3.  Rescue of Na+ affinity in aspartate 928 mutants of Na+,K+-ATPase by secondary mutation of glutamate 314.

Authors:  Rikke Holm; Anja P Einholm; Jens P Andersen; Bente Vilsen
Journal:  J Biol Chem       Date:  2015-02-24       Impact factor: 5.157

4.  A Distinct Phenotype in a Novel ATP1A3 Mutation: Connecting the Two Ends of a Spectrum.

Authors:  Pedro Pereira; Andreia Guerreiro; Maria Fonseca; Cristina Halpern; Jorge Pinto-Basto; José P Monteiro
Journal:  Mov Disord Clin Pract       Date:  2015-11-28

5.  Mosaicism in ATP1A3-related disorders: not just a theoretical risk.

Authors:  Marie Hully; Juliette Ropars; Laurence Hubert; Nathalie Boddaert; Marlene Rio; Mathieu Bernardelli; Isabelle Desguerre; Valerie Cormier-Daire; Arnold Munnich; Pascale de Lonlay; Louise Reilly; Claude Besmond; Nadia Bahi-Buisson
Journal:  Neurogenetics       Date:  2016-10-10       Impact factor: 2.660

6.  The Endless Expansion of the Phenotypic Spectrum of ATP1A3 Mutations: A True Diagnostic Challenge.

Authors:  Niccolò E Mencacci
Journal:  Mov Disord Clin Pract       Date:  2016-05-09

7.  Auditory-perceptual voice and speech evaluation in ATP1A3 positive patients.

Authors:  Mary E Moya-Mendez; Lyndsay L Madden; Kathryn W Ruckart; Karen M Downes; Jared F Cook; Beverly M Snively; Allison Brashear; Ihtsham U Haq
Journal:  J Clin Neurosci       Date:  2020-10-05       Impact factor: 1.961

8.  Genome sequencing identifies a novel mutation in ATP1A3 in a family with dystonia in females only.

Authors:  Robert Wilcox; Ingrid Brænne; Norbert Brüggemann; Susen Winkler; Karin Wiegers; Lars Bertram; Tim Anderson; Katja Lohmann
Journal:  J Neurol       Date:  2014-10-31       Impact factor: 4.849

Review 9.  Distinct neurological disorders with ATP1A3 mutations.

Authors:  Erin L Heinzen; Alexis Arzimanoglou; Allison Brashear; Steven J Clapcote; Fiorella Gurrieri; David B Goldstein; Sigurður H Jóhannesson; Mohamad A Mikati; Brian Neville; Sophie Nicole; Laurie J Ozelius; Hanne Poulsen; Tsveta Schyns; Kathleen J Sweadner; Arn van den Maagdenberg; Bente Vilsen
Journal:  Lancet Neurol       Date:  2014-05       Impact factor: 44.182

10.  Excellent response to a ketogenic diet in a patient with alternating hemiplegia of childhood.

Authors:  Anne Roubergue; Bertrand Philibert; Agnès Gautier; Alice Kuster; Karine Markowicz; Thierry Billette de Villemeur; Sandrine Vuillaumier-Barrot; Sophie Nicole; Emmanuel Roze; Diane Doummar
Journal:  JIMD Rep       Date:  2014-02-16
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