Literature DB >> 18511327

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

Kazunari Momma, Manabu Funayama, Yuanzhe Li, Hiroshi Ichinose, Kazuo Motoyoshi, Nobutaka Hattori, Yoshikuni Mizuno, Keiko Kamakura.   

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Year:  2008        PMID： 18511327     DOI： 10.1016/j.parkreldis.2007.12.010

Source DB:  PubMed          Journal:  Parkinsonism Relat Disord        ISSN： 1353-8020            Impact factor:   4.891


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  5 in total

1.  Occurrence of GCH1 gene mutations in a group of Indian dystonia patients.

Authors:  Tufan Naiya; Amar K Misra; Arindam Biswas; Shyamal K Das; Kunal Ray; Jharna Ray
Journal:  J Neural Transm (Vienna)       Date:  2012-02-29       Impact factor: 3.575

2.  Parkinsonism in GTP cyclohydrolase 1 mutation carriers.

Authors:  Ilaria Guella; Holly E Sherman; Silke Appel-Cresswell; Alex Rajput; Ali H Rajput; Matthew J Farrer
Journal:  Brain       Date:  2014-12-13       Impact factor: 13.501

3.  Variability of presynaptic nigrostriatal dopaminergic function and clinical heterogeneity in a dopa-responsive dystonia family with GCH-1 gene mutation.

Authors:  Juei-Jueng Lin; Chin-Song Lu; Chon-Haw Tsai
Journal:  J Neurol       Date:  2017-12-30       Impact factor: 4.849

Review 4.  Advances in the Genetics of Parkinson's Disease: A Guide for the Clinician.

Authors:  Una-Marie Sheerin; Henry Houlden; Nicholas W Wood
Journal:  Mov Disord Clin Pract       Date:  2014-04-10

5.  Genetic diagnosis of two dopa-responsive dystonia families by exome sequencing.

Authors:  Zhan-fang Sun; Yu-han Zhang; Ji-feng Guo; Qi-ying Sun; Jun-pu Mei; Han-lin Zhou; Li-ping Guan; Jin-yong Tian; Zheng-mao Hu; Jia-da Li; Kun Xia; Xin-xiang Yan; Bei-sha Tang
Journal:  PLoS One       Date:  2014-09-02       Impact factor: 3.240
  5 in total

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