CrossRef Text and Data Mining

Result of CrossRef Text and Data Mining Search is the related articles with entitled article. If you click link1 or link2 you will be able to reach the full text site of selected articles; however, some links do not show the full text immediately at now. If you click CrossRef Text and Data Mining Download icon, you will be able to get whole list of articles from literature included in CrossRef Text and Data Mining.

Dopa-Responsive Dystonia: A Male Patient Inherited a Novel GCH1 Deletion from an Asymptomatic Mother

Wendi Wang, Baozhong Xin, Heng Wang

JMD. 2020;13(2):150-153. Published online 2020 March 18 DOI: https://doi.org/10.14802/jmd.19069

Dopa-Responsive Dystonia: A Male Patient Inherited a Novel GCH1 Deletion from an Asymptomatic Mother

Wendi Wang, Baozhong Xin, Heng Wang

Journal of Movement Disorders. 2020;13(2):150-153

Link1

Link2 Link3

Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia

Daniela Steinberger, Jutta Trübenbach, Birgit Zirn, Barbara Leube, Gabriele Wildhardt, Ulrich Müller

Neurogenetics. 2006;8(1):51-55

Link1

Link2 Link3

Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia

Daniela Steinberger, Jutta Trübenbach, Birgit Zirn, Barbara Leube, Gabriele Wildhardt, Ulrich Müller

Neurogenetics. 2006;8(1):69-69

Link1

Link2 Link3

Genetic study in a Turkish family with dopa-responsive dystonia revealed a novel mutation in GCH1 gene

M. Gultekin

Parkinsonism & Related Disorders. 2020;79:e106

Link1 Link2

A new mutation of GCH1 in triplets family with dopa-responsive dystonia

N. Tachi, S. Takahashi, M. Jo, M. Shinoda

European Journal of Neurology. 2011;18(9):1191-1193

Link1 Link2

Novel non-senseGCH1mutation in a South African family diagnosed with dopa-responsive dystonia

S. Bardien, R. Keyser, D. Lombard, M. Du Plessis, H. Human, J. Carr

European Journal of Neurology. 2009;17(3):510-512

Link1 Link2

Mutations of GCH1 in Dopa-responsive dystonia

U. Müller, D. Steinberger, H. Topka

Journal of Neural Transmission. 2002;109(3):321-328

Link1

Link2 Link3

Segawa's disease: dopa-responsive dystonia

N. Gordon

International Journal of Clinical Practice. 2007;62(6):943-946

Link1 Link2

Dopa responsive dystonia with dyskinesia due to GCH1 mutation – case report

A. Potulska-Chromik, A. Kostera-Pruszczyk

European Journal of Paediatric Neurology. 2008;12:S49-S50

Link1 Link2

Oral phenylalanine loading profiles in symptomatic and asymptomatic gene carriers with dopa-responsive dystonia due to dominantly inherited GTP cyclohydrolase deficiency

K. Hyland, T. G. Nygaard, J. M. Trugman, K. J. Swoboda, L. A. Arnold, S. P. Sparagana

Journal of Inherited Metabolic Disease. 1999;22(3):213-215

Link1 Link2

This metadata service is kindly provided by CrossRef from May 29, 2014. JMD has participated in CrossRef Text and Data Mining service since October 29, 2014.