TY  - JOUR
AU  - Fernandez-Ramos, Joaquin A
AU  - De-la-Torre-Aguilar, Maria Jose
AU  - Quintans, Beatriz
AU  - Perez-Navero, Juan Luis
AU  - Beyer, Katrin
AU  - Lopez-Laso, Eduardo
PY  - 2021
DO  - 10.1016/j.parkreldis.2021.11.014
UR  - http://hdl.handle.net/10668/22467
T2  - Parkinsonism & related disorders
AB  - In 2009, we described a possible founder effect of autosomal dominant Segawa disease in Córdoba (Spain) due to mutation c.265C>T (p. Q89*) in the GCH1 gene. We present a retrospective multicentre study aimed at improving our knowledge of Segawa...
LA  - en
PB  - Elsevier
KW  - Autosomal dominant GTPCH deficiency
KW  - Autosomal dominant Segawa disease
KW  - Dopa-responsive dystonia
KW  - Dopamine
KW  - Dyskinesias
KW  - Dystonia
KW  - Founder mutation
KW  - GCH1
KW  - GTPCH
KW  - Levodopa
KW  - Parkinson's disease
KW  - Parkinsonism
KW  - Dystonic Disorders
KW  - GTP Cyclohydrolase
KW  - Humans
KW  - Levodopa
KW  - Retrospective Studies
KW  - Spain
KW  - Treatment Outcome
TI  - Genetic landscape of Segawa disease in Spain. Long-term treatment outcomes.
TY  - research article
VL  - 94
ER  -