Tania Fuchs
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Explore the profile of Tania Fuchs including associated specialties, affiliations and a list of published articles.
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16
Citations
577
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Recent Articles
1.
de Gusmao C, Fuchs T, Moses A, Multhaupt-Buell T, Song P, Ozelius L, et al.
Otolaryngol Head Neck Surg
. 2016 May;
155(4):624-8.
PMID: 27188707
Objective: Spasmodic dysphonia is a focal dystonia of the larynx with heterogeneous manifestations and association with familial risk factors. There are scarce data to allow precise understanding of etiology and...
2.
Putzel G, Fuchs T, Battistella G, Rubien-Thomas E, Frucht S, Blitzer A, et al.
Mov Disord
. 2016 Apr;
31(5):750-5.
PMID: 27093447
Background: Up to 12% of patients with laryngeal dystonia report a familial history of dystonia, pointing to involvement of genetic factors. However, its genetic causes remain unknown. Method: Using Sanger...
3.
Ruiz M, Perez-Garcia G, Ortiz-Virumbrales M, Meneret A, Morant A, Kottwitz J, et al.
Hum Mol Genet
. 2015 Sep;
24(25):7159-70.
PMID: 26376866
DYT6 dystonia is caused by mutations in THAP1 [Thanatos-associated (THAP) domain-containing apoptosis-associated protein] and is autosomal dominant and partially penetrant. Like other genetic primary dystonias, DYT6 patients have no characteristic...
4.
Saunders-Pullman R, Fuchs T, San Luciano M, Raymond D, Brashear A, Ortega R, et al.
Mov Disord
. 2014 Feb;
29(6):812-8.
PMID: 24500857
A founder mutation in the Thanatos-associated (THAP) domain containing, apoptosis associated protein 1 (THAP1) gene causing primary dystonia was originally described in the Amish-Mennonites. However, there may be both genotypic...
5.
Fuchs T, Ozelius L
Curr Neurol Neurosci Rep
. 2013 Oct;
13(12):410.
PMID: 24136457
The past year has been extremely successful with regard to the genetics of dystonia, with the identification of four new dystonia genes (CIZ1, ANO3, GNAL, and TUBB4A). This progress was...
6.
Fuchs T, Saunders-Pullman R, Masuho I, San Luciano M, Raymond D, Factor S, et al.
Nat Genet
. 2012 Dec;
45(1):88-92.
PMID: 23222958
Dystonia is a movement disorder characterized by repetitive twisting muscle contractions and postures. Its molecular pathophysiology is poorly understood, in part owing to limited knowledge of the genetic basis of...
7.
Fuchs T, Ozelius L
Semin Neurol
. 2012 Jan;
31(5):441-8.
PMID: 22266882
Dystonia is characterized by muscle contractions leading to abnormal postures with involuntary twisting and repetitive movements. Inherited dystonia designated by DYT locus symbols can be separated into three broad phenotypic...
8.
Panov F, Tagliati M, Ozelius L, Fuchs T, Gologorsky Y, Cheung T, et al.
J Neurol Neurosurg Psychiatry
. 2011 Sep;
83(2):182-7.
PMID: 21949105
Background: Mutations of the THAP1 gene were recently shown to underlie DYT6 torsion dystonia. Little is known about the response of this dystonia subtype to deep brain stimulation (DBS) at...
9.
de Carvalho Aguiar P, Fuchs T, Borges V, Lamar K, Silva S, Ferraz H, et al.
Mov Disord
. 2010 Oct;
25(16):2854-7.
PMID: 20925076
The TOR1A and THAP1 genes were screened for mutations in a cohort of 21 Brazilian patients with Primary torsion dystonia (PTD). We identified a de novo delGAG mutation in the...
10.
Gavarini S, Cayrol C, Fuchs T, Lyons N, Ehrlich M, Girard J, et al.
Ann Neurol
. 2010 Sep;
68(4):549-53.
PMID: 20865765
Primary dystonia is a movement disorder characterized by sustained muscle contractions and in which dystonia is the only or predominant clinical feature. TOR1A(DYT1) and the transcription factor THAP1(DYT6) are the...