Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia

2006 ◽  
Vol 21 (10) ◽  
pp. 1782-1784 ◽  
Author(s):  
Mattia Gambarin ◽  
Enza Maria Valente ◽  
Paolo Liberini ◽  
Giuseppe Barrano ◽  
Alberto Bonizzato ◽  
...  
Keyword(s):  
Torsion Dystonia ◽  
Clinical Variability ◽  
Italian Family ◽  
Primary Torsion ◽  
Primary Torsion Dystonia

Identification of a novel primary torsion dystonia locus (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset

2001 ◽  
Vol 22 (1) ◽  
pp. 95-96 ◽  
Author(s):  
E. M. Valente ◽  
A. R. Bentivoglio ◽  
E. Cassetta ◽  
P. H. Dixon ◽  
M. B. Davis ◽  
...  
Keyword(s):  
Upper Limb ◽  
Torsion Dystonia ◽  
Italian Family ◽  
Primary Torsion ◽  
Limb Onset ◽  
Chromosome 1P36 ◽  
Primary Torsion Dystonia

DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13-36.32 in an Italian family with cranial-cervical or upper limb onset

2001 ◽  
Vol 49 (3) ◽  
pp. 362-366 ◽  
Author(s):  
Enza Maria Valente ◽  
Anna Rita Bentivoglio ◽  
Emanuele Cassetta ◽  
Peter H. Dixon ◽  
Mary B. Davis ◽  
...  
Keyword(s):  
Upper Limb ◽  
Torsion Dystonia ◽  
Italian Family ◽  
Primary Torsion ◽  
Limb Onset ◽  
Primary Torsion Dystonia

Multiple founder effects in Japanese families with primary torsion dystonia harboring the GAG deletion in the TOR1A ( DYT1 ) gene

Neurogenetics ◽  
2002 ◽  
Vol 4 (2) ◽  
pp. 105-106 ◽  
Author(s):  
Takeshi Ikeuchi ◽  
Yoshiko Nomura ◽  
Masaya Segawa ◽  
Laurie Ozelius ◽  
Takayoshi Shimohata ◽  
...  
Keyword(s):  
Founder Effects ◽  
Torsion Dystonia ◽  
Dyt1 Gene ◽  
Primary Torsion ◽  
Primary Torsion Dystonia

Regional metabolism in primary torsion dystonia: Effects of penetrance and genotype

Neurology ◽  
2004 ◽  
Vol 62 (8) ◽  
pp. 1384-1390 ◽  
Author(s):  
M. Carbon ◽  
S. Su ◽  
V. Dhawan ◽  
D. Raymond ◽  
S. Bressman ◽  
...  
Keyword(s):  
Torsion Dystonia ◽  
Regional Metabolism ◽  
Primary Torsion ◽  
Primary Torsion Dystonia

Genetics of Primary Torsion Dystonia

2010 ◽  
Vol 10 (3) ◽  
pp. 199-206 ◽  
Author(s):  
Norbert Brüggemann ◽  
Christine Klein
Keyword(s):  
Torsion Dystonia ◽  
Primary Torsion ◽  
Primary Torsion Dystonia

Phenotypes and genetic architecture of focal primary torsion dystonia

2012 ◽  
Vol 83 (10) ◽  
pp. 1006-1011 ◽  
Author(s):  
Justus L Groen ◽  
Marlot C Kallen ◽  
Bart P C van de Warrenburg ◽  
J D Speelman ◽  
Jacobus J van Hilten ◽  
...  
Keyword(s):  
Genetic Architecture ◽  
Torsion Dystonia ◽  
Primary Torsion ◽  
Primary Torsion Dystonia

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

2009 ◽  
Vol 41 (3) ◽  
pp. 286-288 ◽  
Author(s):  
Tania Fuchs ◽  
Sophie Gavarini ◽  
Rachel Saunders-Pullman ◽  
Deborah Raymond ◽  
Michelle E Ehrlich ◽  
...  
Keyword(s):  
Torsion Dystonia ◽  
Primary Torsion ◽  
Primary Torsion Dystonia
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