Literature DB >> 19722050

Dystonia, autoimmune disease and cerebral white matter abnormalities in a patient with 18p deletion.

Carla Graziadio1, Rafael Fabiano Machado Rosa, Paulo Ricardo Gazzola Zen, Louise Lapagesse de Camargo Pinto, Liselotte Menke Barea, Giorgio Adriano Paskulin.   

Abstract

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Year:  2009        PMID： 19722050     DOI： 10.1590/s0004-282x2009000400021

Source DB:  PubMed          Journal:  Arq Neuropsiquiatr        ISSN： 0004-282X            Impact factor:   1.420


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  4 in total

1.  Spectrum of Movement Disorders in 18p Deletion Syndrome.

Authors:  David Crosiers; Bettina Blaumeiser; Gert Van Goethem
Journal:  Mov Disord Clin Pract       Date:  2018-12-06

2.  Role of Gα(olf) in familial and sporadic adult-onset primary dystonia.

Authors:  Satya R Vemula; Andreas Puschmann; Jianfeng Xiao; Yu Zhao; Monika Rudzińska; Karen P Frei; Daniel D Truong; Zbigniew K Wszolek; Mark S LeDoux
Journal:  Hum Mol Genet       Date:  2013-02-27       Impact factor: 6.150

3.  Mutations in GNAL cause primary torsion dystonia.

Authors:  Tania Fuchs; Rachel Saunders-Pullman; Ikuo Masuho; Marta San Luciano; Deborah Raymond; Stewart Factor; Anthony E Lang; Tsao-Wei Liang; Richard M Trosch; Sierra White; Edmond Ainehsazan; Denis Hervé; Nutan Sharma; Michelle E Ehrlich; Kirill A Martemyanov; Susan B Bressman; Laurie J Ozelius
Journal:  Nat Genet       Date:  2012-12-09       Impact factor: 38.330

4.  Prenatal Diagnosis of a De Novo Partial Trisomy 6q and Partial Monosomy 18p Associated with Cephalocele: A Case Report.

Authors:  A Karaman; B Karaman; A Çetinkaya; S Karaman; O Demirci
Journal:  Balkan J Med Genet       Date:  2020-08-26       Impact factor: 0.519
  4 in total

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