Literature DB >> 20417146

Substantia nigra hyperechogenicity in DYT6 dystonia: a pilot study.

Rachel Saunders-Pullman, Kaili Stanley, Norbert Brüggemann, Deborah Raymond, Marta San Luciano, Cuiling Wang, Christine Klein, Naomi Lubarr, Laurie Ozelius, Susan B Bressman, Johann Hagenah.   

Abstract

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Year:  2010        PMID： 20417146      PMCID： PMC2916033          DOI： 10.1016/j.parkreldis.2010.03.003

Source DB:  PubMed          Journal:  Parkinsonism Relat Disord        ISSN： 1353-8020            Impact factor:   4.891


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  6 in total

1.  Distinguishing early-onset PD from dopa-responsive dystonia with transcranial sonography.

Authors:  J M Hagenah; K Hedrich; B Becker; P P Pramstaller; G Seidel; C Klein
Journal:  Neurology       Date:  2006-06-27       Impact factor: 9.910

2.  Narrowing the DYT6 dystonia region and evidence for locus heterogeneity in the Amish-Mennonites.

Authors:  Rachel Saunders-Pullman; Deborah Raymond; Geetha Senthil; Patricia Kramer; Erin Ohmann; Amanda Deligtisch; Vicki Shanker; Paul Greene; Rowena Tabamo; Neng Huang; Michele Tagliati; Patricia Kavanagh; Jeannie Soto-Valencia; Patricia de Carvalho Aguiar; Neil Risch; Laurie Ozelius; Susan Bressman
Journal:  Am J Med Genet A       Date:  2007-09-15       Impact factor: 2.802

3.  THAP1 is a nuclear proapoptotic factor that links prostate-apoptosis-response-4 (Par-4) to PML nuclear bodies.

Authors:  Myriam Roussigne; Corinne Cayrol; Thomas Clouaire; François Amalric; Jean-Philippe Girard
Journal:  Oncogene       Date:  2003-04-24       Impact factor: 9.867

4.  Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia.

Authors:  Tania Fuchs; Sophie Gavarini; Rachel Saunders-Pullman; Deborah Raymond; Michelle E Ehrlich; Susan B Bressman; Laurie J Ozelius
Journal:  Nat Genet       Date:  2009-02-01       Impact factor: 38.330

5.  Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study.

Authors:  Susan B Bressman; Deborah Raymond; Tania Fuchs; Gary A Heiman; Laurie J Ozelius; Rachel Saunders-Pullman
Journal:  Lancet Neurol       Date:  2009-04-01       Impact factor: 44.182

6.  Abnormal striatal and thalamic dopamine neurotransmission: Genotype-related features of dystonia.

Authors:  M Carbon; M Niethammer; S Peng; D Raymond; V Dhawan; T Chaly; Y Ma; S Bressman; D Eidelberg
Journal:  Neurology       Date:  2009-06-16       Impact factor: 9.910
  6 in total
  3 in total

Review 1.  Substantia nigra hyperechogenicity is a risk marker of Parkinson's disease: no.

Authors:  Uwe Walter
Journal:  J Neural Transm (Vienna)       Date:  2010-12-29       Impact factor: 3.575

Review 2.  Genetic and clinical features of primary torsion dystonia.

Authors:  Laurie J Ozelius; Susan B Bressman
Journal:  Neurobiol Dis       Date:  2010-12-17       Impact factor: 5.996

3.  Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites.

Authors:  R Saunders-Pullman; D Raymond; A J Stoessl; D Hobson; K Nakamura; T Nakamura; S Pullman; D Lefton; M S Okun; R Uitti; R Sachdev; K Stanley; M San Luciano; J Hagenah; R Gatti; L J Ozelius; S B Bressman
Journal:  Neurology       Date:  2012-02-15       Impact factor: 9.910
  3 in total

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