PMC Links for Books (Select 1495724) - PMC

Katja Lohmann, Claire Redin, Holger Tönnies, Susan B. Bressman, Jose Ignacio Martin Subero, Karin Wiegers, Frauke Hinrichs, Yorck Hellenbroich, Aleksandar Rakovic, Deborah Raymond, Laurie J. Ozelius, Eberhard Schwinger, Reiner Siebert, Michael E. Talkowski, Rachel Saunders-Pullman, Christine Klein

JAMA Neurol. 2017 Jul; 74(7): 806–812. Prepublished online 2017 May 30. Published online 2017 Jul 10. doi: 10.1001/jamaneurol.2017.0666

PMCID:: PMC5710536

Abstract Article

Select item 56828557.

c.207C>G mutation in sepiapterin reductase causes autosomal dominant dopa-responsive dystonia

Ali S. Shalash, Thomas W. Rösler, Stefanie H. Müller, Mohamed Salama, Günther Deuschl, Ulrich Müller, Thomas Opladen, Britt-Sabina Petersen, Andre Franke, Franziska Hopfner, Gregor Kuhlenbäumer, Günter U. Höglinger

Neurol Genet. 2017 Dec; 3(6): e197. Published online 2017 Nov 1. doi: 10.1212/NXG.0000000000000197

PMCID:: PMC5682855

Abstract Article PDF–287K

Select item 50278088.

A marked contrast between serotonergic and dopaminergic changes in dopa-responsive dystonia

Yoshiaki Furukawa, Ali H. Rajput, Junchao Tong, Yuji Tomizawa, Oleh Hornykiewicz, Stephen J. Kish

Neurology. 2016 Sep 6; 87(10): 1060–1061. doi: 10.1212/WNL.0000000000003065

PMCID:: PMC5027808

Article PDF–99K

Select item 47319259.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Abstract Article PDF–1.6M

Select item 437906510.

Novel GCH1 variant in Dopa-responsive dystonia and Parkinson's disease

A.J. Lewthwaite, T.D. Lambert, E.B. Rolfe, S. Olgiati, M. Quadri, E.J. Simons, K.E. Morrison, V. Bonifati, D.J. Nicholl

Parkinsonism Relat Disord. 2015 Apr; 21(4): 394–397. doi: 10.1016/j.parkreldis.2015.01.004

PMCID:: PMC4379065

Abstract Article

Select item 413265011.

Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers

Niccolò E. Mencacci, Ioannis U. Isaias, Martin M. Reich, Christos Ganos, Vincent Plagnol, James M. Polke, Jose Bras, Joshua Hersheson, Maria Stamelou, Alan M. Pittman, Alastair J. Noyce, Kin Y. Mok, Thomas Opladen, Erdmute Kunstmann, Sybille Hodecker, Alexander Münchau, Jens Volkmann, Samuel Samnick, Katie Sidle, Tina Nanji, Mary G. Sweeney, Henry Houlden, Amit Batla, Anna L. Zecchinelli, Gianni Pezzoli, Giorgio Marotta, Andrew Lees, Paulo Alegria, Paul Krack, Florence Cormier-Dequaire, Suzanne Lesage, Alexis Brice, Peter Heutink, Thomas Gasser, Steven J. Lubbe, Huw R. Morris, Pille Taba, Sulev Koks, Elisa Majounie, J. Raphael Gibbs, Andrew Singleton, John Hardy, Stephan Klebe, Kailash P. Bhatia, Nicholas W. Wood

Brain. 2014 Sep; 137(9): 2480–2492. Published online 2014 Jul 2. doi: 10.1093/brain/awu179

PMCID:: PMC4132650

Abstract Article PDF–308K

Select item 233025212.

Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1 redefining DYT14 as DYT5

C. Wider, S. Melquist, M. Hauf, A. Solida, S.A. Cobb, J.M. Kachergus, J. Gass, K.D. Coon, M. Baker, A. Cannon, D.A. Stephan, D.F. Schorderet, J. Ghika, P.R. Burkhard, G. Kapatos, M. Hutton, M.J. Farrer, Z.K. Wszolek, F.J.G. Vingerhoets

Neurology. Author manuscript; available in PMC 2008 Apr 24.

Published in final edited form as: Neurology. 2008 Apr 15; 70(16 Pt 2): 1377–1383. Published online 2007 Sep 5. doi: 10.1212/01.wnl.0000275527.35752.c5

PMCID:: PMC2330252

Abstract Article PDF–947K

Select item 211740313.

Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency

J L K Van Hove, J Steyaert, G Matthijs, E Legius, P Theys, R Wevers, A Romstad, L B Møller, K Hedrich, D Goriounov, N Blau, C Klein, P Casaer

J Neurol Neurosurg Psychiatry. 2006 Jan; 77(1): 18–23. doi: 10.1136/jnnp.2004.051664

PMCID:: PMC2117403

Abstract Article PDF–217K

Select item 173793014.

Phenocopies in a large GCH1 mutation positive family with dopa responsive dystonia: confusing the picture?

D Grimes, C Barclay, J Duff, Y Furukawa, A Lang

J Neurol Neurosurg Psychiatry. 2002 Jun; 72(6): 801–804. doi: 10.1136/jnnp.72.6.801

PMCID:: PMC1737930

Summary PDF–92K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Books

Items: 14

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity