Literature DB >> 30363572

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

Niccolò E Mencacci1.   

Abstract

Entities:  

Year:  2016        PMID： 30363572      PMCID： PMC6178772          DOI： 10.1002/mdc3.12358

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


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  19 in total

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

Authors:  Anne Roubergue; Emmanuel Roze; Sandrine Vuillaumier-Barrot; Marie-Joséphine Fontenille; Aurélie Méneret; Marie Vidailhet; Bertrand Fontaine; Diane Doummar; Bertrand Philibert; Florence Riant; Sophie Nicole
Journal:  Mov Disord       Date:  2013-03-08       Impact factor: 10.338

2.  The expanding clinical and genetic spectrum of ATP1A3-related disorders.

Authors:  Hendrik Rosewich; Andreas Ohlenbusch; Peter Huppke; Lars Schlotawa; Martina Baethmann; Inês Carrilho; Simona Fiori; Charles Marques Lourenço; Sarah Sawyer; Robert Steinfeld; Jutta Gärtner; Knut Brockmann
Journal:  Neurology       Date:  2014-02-12       Impact factor: 9.910

3.  Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.

Authors:  Alex R Paciorkowski; Sharon S McDaniel; Laura A Jansen; Hannah Tully; Emily Tuttle; Dalia H Ghoneim; Srinivasan Tupal; Sonya A Gunter; Valeria Vasta; Qing Zhang; Thao Tran; Yi B Liu; Laurie J Ozelius; Allison Brashear; Kathleen J Sweadner; William B Dobyns; Sihoun Hahn
Journal:  Epilepsia       Date:  2015-02-05       Impact factor: 5.864

4.  Cognitive impairment in rapid-onset dystonia-parkinsonism.

Authors:  Jared F Cook; Deborah F Hill; Beverly M Snively; Niki Boggs; Cynthia K Suerken; Ihtsham Haq; Mark Stacy; W Vaughn McCall; Laurie J Ozelius; Kathleen J Sweadner; Allison Brashear
Journal:  Mov Disord       Date:  2014-01-16       Impact factor: 10.338

Review 5.  Alternating hemiplegia of childhood.

Authors:  M Bourgeois; J Aicardi; F Goutières
Journal:  J Pediatr       Date:  1993-05       Impact factor: 4.406

6.  The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.

Authors:  Allison Brashear; William B Dobyns; Patricia de Carvalho Aguiar; Michel Borg; C J M Frijns; Seema Gollamudi; Andrew Green; João Guimaraes; Bret C Haake; Christine Klein; Gurutz Linazasoro; Alexander Münchau; Deborah Raymond; David Riley; Rachel Saunders-Pullman; Marina A J Tijssen; David Webb; Jacek Zaremba; Susan B Bressman; Laurie J Ozelius
Journal:  Brain       Date:  2007-02-04       Impact factor: 13.501

7.  Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.

Authors:  Patricia de Carvalho Aguiar; Kathleen J Sweadner; John T Penniston; Jacek Zaremba; Liu Liu; Marsha Caton; Gurutz Linazasoro; Michel Borg; Marina A J Tijssen; Susan B Bressman; William B Dobyns; Allison Brashear; Laurie J Ozelius
Journal:  Neuron       Date:  2004-07-22       Impact factor: 17.173

8.  Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.

Authors:  Rodolphe Dard; Cyril Mignot; Alexandra Durr; Gaetan Lesca; Damien Sanlaville; Emmanuel Roze; Fanny Mochel
Journal:  Dev Med Child Neurol       Date:  2015-09-23       Impact factor: 5.449

9.  Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.

Authors:  Hendrik Rosewich; Holger Thiele; Andreas Ohlenbusch; Ulrike Maschke; Janine Altmüller; Peter Frommolt; Birgit Zirn; Friedrich Ebinger; Hartmut Siemes; Peter Nürnberg; Knut Brockmann; Jutta Gärtner
Journal:  Lancet Neurol       Date:  2012-07-30       Impact factor: 44.182

10.  De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.

Authors:  Erin L Heinzen; Kathryn J Swoboda; Yuki Hitomi; Fiorella Gurrieri; Sophie Nicole; Boukje de Vries; F Danilo Tiziano; Bertrand Fontaine; Nicole M Walley; Sinéad Heavin; Eleni Panagiotakaki; Stefania Fiori; Emanuela Abiusi; Lorena Di Pietro; Matthew T Sweney; Tara M Newcomb; Louis Viollet; Chad Huff; Lynn B Jorde; Sandra P Reyna; Kelley J Murphy; Kevin V Shianna; Curtis E Gumbs; Latasha Little; Kenneth Silver; Louis J Ptáček; Joost Haan; Michel D Ferrari; Ann M Bye; Geoffrey K Herkes; Charlotte M Whitelaw; David Webb; Bryan J Lynch; Peter Uldall; Mary D King; Ingrid E Scheffer; Giovanni Neri; Alexis Arzimanoglou; Arn M J M van den Maagdenberg; Sanjay M Sisodiya; Mohamad A Mikati; David B Goldstein
Journal:  Nat Genet       Date:  2012-07-29       Impact factor: 38.330
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