Literature DB >> 25497597

Parkinsonism in GTP cyclohydrolase 1 mutation carriers.

Ilaria Guella1, Holly E Sherman2, Silke Appel-Cresswell3, Alex Rajput4, Ali H Rajput4, Matthew J Farrer2.   

Abstract

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Year:  2014        PMID： 25497597      PMCID： PMC5963401          DOI： 10.1093/brain/awu341

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  16 in total

1.  TYROSINE HYDROXYLASE. THE INITIAL STEP IN NOREPINEPHRINE BIOSYNTHESIS.

Authors:  T NAGATSU; M LEVITT; S UDENFRIEND
Journal:  J Biol Chem       Date:  1964-09       Impact factor: 5.157

2.  A new mutation in the GCH1 gene presents as early-onset Parkinsonism.

Authors:  Kazunari Momma; Manabu Funayama; Yuanzhe Li; Hiroshi Ichinose; Kazuo Motoyoshi; Nobutaka Hattori; Yoshikuni Mizuno; Keiko Kamakura
Journal:  Parkinsonism Relat Disord       Date:  2008-06-03       Impact factor: 4.891

3.  Low frequency of Parkin, Tyrosine Hydroxylase, and GTP Cyclohydrolase I gene mutations in a Danish population of early-onset Parkinson's Disease.

Authors:  J M Hertz; K Ostergaard; I Juncker; S Pedersen; A Romstad; L B Møller; F Güttler; E Dupont
Journal:  Eur J Neurol       Date:  2006-04       Impact factor: 6.089

4.  Are Dopa-responsive dystonia and Parkinson's disease related disorders? A case report.

Authors:  Carsten Eggers; Alexander E Volk; Deniz Kahraman; Gereon R Fink; Barbara Leube; Matthias Schmidt; Lars Timmermann
Journal:  Parkinsonism Relat Disord       Date:  2011-10-24       Impact factor: 4.891

5.  Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?

Authors:  Lena Elisabeth Hjermind; Lis Gitte Johannsen; Nenad Blau; Ron Allan Wevers; Christoph-Burkhard Lucking; Jens Michael Hertz; Lars Friberg; Lisbeth Regeur; Jørgen Erik Nielsen; Sven Asger Sørensen
Journal:  Mov Disord       Date:  2006-05       Impact factor: 10.338

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

Authors:  H Ichinose; T Ohye; E Takahashi; N Seki; T Hori; M Segawa; Y Nomura; K Endo; H Tanaka; S Tsuji
Journal:  Nat Genet       Date:  1994-11       Impact factor: 38.330

7.  GCH1 in early-onset Parkinson's disease.

Authors:  Stephanie A Cobb; Christian Wider; Owen A Ross; Ignacio F Mata; Charles H Adler; Alex Rajput; Ali H Rajput; Ruey-Meei Wu; Robert Hauser; Keith A Josephs; Jonathan Carr; Katrina Gwinn; Michael G Heckman; Jan O Aasly; Timothy Lynch; Ryan J Uitti; Zbigniew K Wszolek; Gregory Kapatos; Matthew J Farrer
Journal:  Mov Disord       Date:  2009-10-30       Impact factor: 10.338

8.  Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome.

Authors:  V Leuzzi; Ca Carducci; Cl Carducci; F Cardona; C Artiola; I Antonozzi
Journal:  Neurology       Date:  2002-10-22       Impact factor: 9.910

9.  Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.

Authors:  Mike A Nalls; Nathan Pankratz; Christina M Lill; Chuong B Do; Dena G Hernandez; Mohamad Saad; Anita L DeStefano; Eleanna Kara; Jose Bras; Manu Sharma; Claudia Schulte; Margaux F Keller; Sampath Arepalli; Christopher Letson; Connor Edsall; Hreinn Stefansson; Xinmin Liu; Hannah Pliner; Joseph H Lee; Rong Cheng; M Arfan Ikram; John P A Ioannidis; Georgios M Hadjigeorgiou; Joshua C Bis; Maria Martinez; Joel S Perlmutter; Alison Goate; Karen Marder; Brian Fiske; Margaret Sutherland; Georgia Xiromerisiou; Richard H Myers; Lorraine N Clark; Kari Stefansson; John A Hardy; Peter Heutink; Honglei Chen; Nicholas W Wood; Henry Houlden; Haydeh Payami; Alexis Brice; William K Scott; Thomas Gasser; Lars Bertram; Nicholas Eriksson; Tatiana Foroud; Andrew B Singleton
Journal:  Nat Genet       Date:  2014-07-27       Impact factor: 38.330

10.  Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.

Authors:  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
Journal:  Brain       Date:  2014-07-02       Impact factor: 13.501
View more
  7 in total

1.  GCH1 mutations in dopa-responsive dystonia and Parkinson's disease.

Authors:  Hiroyo Yoshino; Kenya Nishioka; Yuanzhe Li; Yutaka Oji; Genko Oyama; Taku Hatano; Yutaka Machida; Yasushi Shimo; Arisa Hayashida; Aya Ikeda; Kaoru Mogushi; Yasuro Shibagaki; Ai Hosaka; Hiroshi Iwanaga; Junko Fujitake; Takekazu Ohi; Daigo Miyazaki; Yoshiki Sekijima; Mitsuaki Oki; Hirofumi Kusaka; Ken-Ichi Fujimoto; Yoshikazu Ugawa; Manabu Funayama; Nobutaka Hattori
Journal:  J Neurol       Date:  2018-06-14       Impact factor: 4.849

2.  Common and rare GCH1 variants are associated with Parkinson's disease.

Authors:  Uladzislau Rudakou; Bouchra Ouled Amar Bencheikh; Jennifer A Ruskey; Lynne Krohn; Sandra B Laurent; Dan Spiegelman; Christopher Liong; Stanley Fahn; Cheryl Waters; Oury Monchi; Edward A Fon; Yves Dauvilliers; Roy N Alcalay; Nicolas Dupré; Ziv Gan-Or
Journal:  Neurobiol Aging       Date:  2018-09-15       Impact factor: 4.673

Review 3.  Pathways to Parkinsonism Redux: convergent pathobiological mechanisms in genetics of Parkinson's disease.

Authors:  Ravindran Kumaran; Mark R Cookson
Journal:  Hum Mol Genet       Date:  2015-06-22       Impact factor: 6.150

4.  Targeted sequencing of Parkinson's disease loci genes highlights SYT11, FGF20 and other associations.

Authors:  Uladzislau Rudakou; Eric Yu; Lynne Krohn; Jennifer A Ruskey; Farnaz Asayesh; Yves Dauvilliers; Dan Spiegelman; Lior Greenbaum; Stanley Fahn; Cheryl H Waters; Nicolas Dupré; Guy A Rouleau; Sharon Hassin-Baer; Edward A Fon; Roy N Alcalay; Ziv Gan-Or
Journal:  Brain       Date:  2021-03-03       Impact factor: 13.501

Review 5.  Epigenetics in Lewy Body Diseases: Impact on Gene Expression, Utility as a Biomarker, and Possibilities for Therapy.

Authors:  Aintzane Urbizu; Katrin Beyer
Journal:  Int J Mol Sci       Date:  2020-07-02       Impact factor: 5.923

6.  Reply: Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.

Authors:  Niccolo E Mencacci; Alan M Pittman; Ioannis U Isaias; John Hardy; Stephan Klebe; Kailash P Bhatia; Nicholas W Wood
Journal:  Brain       Date:  2014-11-14       Impact factor: 13.501

7.  GCH1 variants contribute to the risk and earlier age-at-onset of Parkinson's disease: a two-cohort case-control study.

Authors:  Hong-Xu Pan; Yu-Wen Zhao; Jun-Pu Mei; Zheng-Huan Fang; Yige Wang; Xun Zhou; Yang-Jie Zhou; Rui Zhang; Kai-Lin Zhang; Li Jiang; Qian Zeng; Yan He; Zheng Wang; Zhen-Hua Liu; Qian Xu; Qi-Ying Sun; Yang Yang; Ya-Cen Hu; Ya-Se Chen; Juan Du; Li-Fang Lei; Hai-Nan Zhang; Chun-Yu Wang; Xin-Xiang Yan; Lu Shen; Hong Jiang; Jie-Qiong Tan; Jin-Chen Li; Bei-Sha Tang; Ji-Feng Guo
Journal:  Transl Neurodegener       Date:  2020-08-04       Impact factor: 8.014
  7 in total

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