Literature DB >> 19936820

Rapid-onset dystonia-parkinsonism: case report.

Marina Svetel, Laurie J Ozelius, Amber Buckley, Katja Lohmann, Lela Brajković, Christine Klein, Vladimir S Kostić.   

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Year:  2010        PMID： 19936820     DOI： 10.1007/s00415-009-5385-y

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  12 in total

1.  [123I]-FP-CIT and [99mTc]-HMPAO single photon emission computed tomography in a new sporadic case of rapid-onset dystonia-parkinsonism.

Authors:  Paolo Zanotti-Fregonara; Marie Vidailhet; Aurélie Kas; Laurie J Ozelius; Fabienne Clot; Elif Hindié; Laura Ravasi; Jean-Yves Devaux; Emmanuel Roze
Journal:  J Neurol Sci       Date:  2008-08-03       Impact factor: 3.181

2.  Variable phenotype of rapid-onset dystonia-parkinsonism.

Authors:  A Brashear; M R Farlow; I J Butler; E J Kasarskis; W B Dobyns
Journal:  Mov Disord       Date:  1996-03       Impact factor: 10.338

3.  Sporadic rapid-onset dystonia-parkinsonism presenting as Parkinson's disease.

Authors:  Daan J Kamphuis; Hans Koelman; Andrew J Lees; Marina A J Tijssen
Journal:  Mov Disord       Date:  2006-01       Impact factor: 10.338

4.  Rapid-onset dystonia-parkinsonism: a clinical and genetic analysis of a new kindred.

Authors:  S J Pittock; C Joyce; V O'Keane; B Hugle; M O Hardiman; F Brett; A J Green; D E Barton; M D King; D W Webb
Journal:  Neurology       Date:  2000-10-10       Impact factor: 9.910

5.  Transcranial sonography in spinocerebellar ataxia type 2.

Authors:  Milija Mijajlović; Natasa Dragasević; Elka Stefanova; Igor Petrović; Marina Svetel; Vladimir S Kostić
Journal:  J Neurol       Date:  2008-05-07       Impact factor: 4.849

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.  Sporadic rapid-onset dystonia-parkinsonism syndrome: failure of bilateral pallidal stimulation.

Authors:  Angela Deutschländer; Friedrich Asmus; Thomas Gasser; Ulrich Steude; Kai Bötzel
Journal:  Mov Disord       Date:  2005-02       Impact factor: 10.338

8.  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

9.  ATP1A3 mutation in the first asian case of rapid-onset dystonia-parkinsonism.

Authors:  Jee-Young Lee; Seema Gollamudi; Laurie J Ozelius; Ji-Young Kim; Beom S Jeon
Journal:  Mov Disord       Date:  2007-09-15       Impact factor: 10.338

10.  Transcranial sonography and [123I]FP-CIT SPECT disclose complementary aspects of Parkinson's disease.

Authors:  Jörg Spiegel; Dirk Hellwig; Marc-Oliver Möllers; Stefanie Behnke; Wolfgang Jost; Klaus Fassbender; Samuel Samnick; Ulrich Dillmann; Georg Becker; Carl-Martin Kirsch
Journal:  Brain       Date:  2006-03-02       Impact factor: 13.501
View more
  11 in total

1.  Exclusion of linkage to chromosomes 14q, 2q37 and 8p21.1-q11.23 in a Serbian family with idiopathic basal ganglia calcification.

Authors:  Vladimir S Kostić; Milica Lukić-Ječmenica; Ivana Novaković; Valerija Dobričić; Lela Brajković; Maja Krajinović; Christine Klein; Aleksandra Pavlović
Journal:  J Neurol       Date:  2011-03-16       Impact factor: 4.849

2.  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

Review 3.  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

4.  Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.

Authors:  Louis Viollet; Gustavo Glusman; Kelley J Murphy; Tara M Newcomb; Sandra P Reyna; Matthew Sweney; Benjamin Nelson; Frederick Andermann; Eva Andermann; Gyula Acsadi; Richard L Barbano; Candida Brown; Mary E Brunkow; Harry T Chugani; Sarah R Cheyette; Abigail Collins; Suzanne D DeBrosse; David Galas; Jennifer Friedman; Lee Hood; Chad Huff; Lynn B Jorde; Mary D King; Bernie LaSalle; Richard J Leventer; Aga J Lewelt; Mylynda B Massart; Mario R Mérida; Louis J Ptáček; Jared C Roach; Robert S Rust; Francis Renault; Terry D Sanger; Marcio A Sotero de Menezes; Rachel Tennyson; Peter Uldall; Yue Zhang; Mary Zupanc; Winnie Xin; Kenneth Silver; Kathryn J Swoboda
Journal:  PLoS One       Date:  2015-05-21       Impact factor: 3.240

5.  Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders.

Authors:  Hendrik Rosewich; Matthew T Sweney; Suzanne DeBrosse; Kevin Ess; Laurie Ozelius; Eva Andermann; Frederick Andermann; Gene Andrasco; Alice Belgrade; Allison Brashear; Sharon Ciccodicola; Lynn Egan; Alfred L George; Aga Lewelt; Joshua Magelby; Mario Merida; Tara Newcomb; Vicky Platt; Dominic Poncelin; Sandra Reyna; Masayuki Sasaki; Marcio Sotero de Menezes; Kathleen Sweadner; Louis Viollet; Mary Zupanc; Kenneth Silver; Kathryn Swoboda
Journal:  Neurol Genet       Date:  2017-03-02

6.  Genetically altered animal models for ATP1A3-related disorders.

Authors:  Hannah W Y Ng; Jennifer A Ogbeta; Steven J Clapcote
Journal:  Dis Model Mech       Date:  2021-10-06       Impact factor: 5.732

7.  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

8.  Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.

Authors:  Eleni Panagiotakaki; Elisa De Grandis; Michela Stagnaro; Erin L Heinzen; Carmen Fons; Sanjay Sisodiya; Boukje de Vries; Christophe Goubau; Sarah Weckhuysen; David Kemlink; Ingrid Scheffer; Gaëtan Lesca; Muriel Rabilloud; Amna Klich; Alia Ramirez-Camacho; Adriana Ulate-Campos; Jaume Campistol; Melania Giannotta; Marie-Laure Moutard; Diane Doummar; Cecile Hubsch-Bonneaud; Fatima Jaffer; Helen Cross; Fiorella Gurrieri; Danilo Tiziano; Sona Nevsimalova; Sophie Nicole; Brian Neville; Arn M J M van den Maagdenberg; Mohamad Mikati; David B Goldstein; Rosaria Vavassori; Alexis Arzimanoglou
Journal:  Orphanet J Rare Dis       Date:  2015-09-26       Impact factor: 4.123

9.  Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: a neuropathologic and neuroanatomical study of four siblings.

Authors:  Adrian L Oblak; Matthew C Hagen; Kathleen J Sweadner; Ihtsham Haq; Christopher T Whitlow; Joseph A Maldjian; Francine Epperson; Jared F Cook; Mark Stacy; Jill R Murrell; Laurie J Ozelius; Allison Brashear; Bernardino Ghetti
Journal:  Acta Neuropathol       Date:  2014-05-07       Impact factor: 17.088

Review 10.  Insights into the Pathology of the α3 Na(+)/K(+)-ATPase Ion Pump in Neurological Disorders; Lessons from Animal Models.

Authors:  Thomas H Holm; Karin Lykke-Hartmann
Journal:  Front Physiol       Date:  2016-06-14       Impact factor: 4.566
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