Dopa-responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene

2000 ◽  
Vol 47 (4) ◽  
pp. 517-520 ◽  
Author(s):  
Yoshiaki Furukawa ◽  
Mark Guttman ◽  
Steven P. Sparagana ◽  
Joel M. Trugman ◽  
Keith Hyland ◽  
...  
Keyword(s):  
Large Deletion ◽  
Gtp Cyclohydrolase I ◽  
Gtp Cyclohydrolase ◽  
I Gene

Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene

1994 ◽  
Vol 8 (3) ◽  
pp. 236-242 ◽  
Author(s):  
Hiroshi Ichinose ◽  
Tamae Ohye ◽  
Ei-ichi Takahashi ◽  
Naohiko Seki ◽  
Tada-aki Hori ◽  
...  
Keyword(s):  
Diurnal Fluctuation ◽  
Gtp Cyclohydrolase I ◽  
Gtp Cyclohydrolase ◽  
I Gene

A novel mutation in the GTP cyclohydrolase I gene associated with a broad range of clinical presentations in a family with autosomal dominant dopa-responsive dystonia

1999 ◽  
Vol 6 (5) ◽  
pp. 605-608 ◽  
Author(s):  
Elena D. Markova ◽  
Pyotr A. Slominsky ◽  
Sergei N. Illarioshkin ◽  
Natalya I. Miklina ◽  
Svetlana N. Popova ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Novel Mutation ◽  
Gtp Cyclohydrolase I ◽  
Gtp Cyclohydrolase ◽  
Clinical Presentations ◽  
I Gene

Vitiligo is not caused by mutations in GTP-cyclohydrolase I gene

2000 ◽  
Vol 25 (2) ◽  
pp. 152-153 ◽  
Author(s):  
Bandyopadhyay ◽  
Lawrence ◽  
Majumder ◽  
Ferrell
Keyword(s):  
Gtp Cyclohydrolase I ◽  
Gtp Cyclohydrolase ◽  
I Gene

scholarly journals A novel point mutation in the GTP cyclohydrolase I gene in a Spanish family with hereditary progressive and dopa responsive dystonia.

1997 ◽  
Vol 62 (4) ◽  
pp. 420-421 ◽  
Author(s):  
K Beyer ◽  
J I Lao-Villadoniga ◽  
B Vecino-Bilbao ◽  
R Cacabelos ◽  
R De la Fuente-Fernandez
Keyword(s):  
Point Mutation ◽  
Gtp Cyclohydrolase I ◽  
Gtp Cyclohydrolase ◽  
Spanish Family ◽  
I Gene

Mutations in GTP-cyclohydrolase I gene and vitiligo

The Lancet ◽  
1997 ◽  
Vol 350 (9078) ◽  
pp. 640 ◽  
Author(s):  
Raäl de la Fuente-Fernández.
Keyword(s):  
Gtp Cyclohydrolase I ◽  
Gtp Cyclohydrolase ◽  
I Gene
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