GTP Cyclohydrolase (deficiency) < GTP Cyclohydrolase (genetics) < GTP Cyclohydrolase (metabolism)

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List of bibliographic references indexed by GTP Cyclohydrolase (genetics)

Number of relevant bibliographic references: 20.

Ident.	Authors (with country if any)	Title
000230 (2015)	Miryam Carecchio [Italie] ; Susanne A. Schneider [Allemagne]	GTP cyclohydrolase 1 mutations and Parkinson's disease: new insights beyond DOPA-responsive dystonia.
000657 (2014)	E. Mulroy [Irlande (pays)] ; A. Mccarthy [Irlande (pays)] ; D. Costello [Irlande (pays)] ; Oa Ross [États-Unis] ; T. Lynch [Irlande (pays)]	Asymmetrical leg atrophy in Dopa Responsive Dystonia due to a novel GTP cyclohydrolase mutation
000D72 (2012)	Jessie Theuns [Belgique] ; David Crosiers ; Luc Debaene ; Karen Nuytemans ; Bram Meeus ; Kristel Sleegers ; Dirk Goossens ; Ellen Corsmit ; Ellen Elinck ; Karin Peeters ; Maria Mattheijssens ; Barbara Pickut ; Jurgen Del-Favero ; Sebastiaan Engelborghs ; Peter Paul De Deyn ; Patrick Cras ; Christine Van Broeckhoven	Guanosine triphosphate cyclohydrolase 1 promoter deletion causes dopa-responsive dystonia.
001386 (2011)	Marek Bodzioch [Pologne] ; Katarzyna Lapicka-Bodzioch [Pologne] ; Monika Rudzinska [Pologne] ; Jacek J. Pietrzyk [Pologne] ; Miroslaw Bik-Multanowski [Pologne] ; Andrzej Szczudlik [Pologne]	Severe dystonic encephalopathy without hyperphenylalaninemia associated with an 18‐bp deletion within the proximal GCH1 promoter
001527 (2011)	Nutan Sharma [États-Unis] ; Ioanna A. Armata [États-Unis] ; Trisha J. Multhaupt-Buell [États-Unis] ; Laurie J. Ozelius [États-Unis] ; Winnie Xin [États-Unis] ; Katherine B. Sims [États-Unis]	Mutation in 5′ upstream region of GCHI gene causes familial dopa‐responsive dystonia
001752 (2011)	Thomas Opladen [Allemagne] ; Georg Hoffmann [Allemagne] ; Friederike Hörster [Allemagne] ; Anne-B Rbel Hinz [Allemagne] ; Katharina Neidhardt [Allemagne] ; Christine Klein [Allemagne] ; Nicole Wolf [Pays-Bas]	Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia
001812 (2011)	Helen Ling [Royaume-Uni] ; James M. Polke [Royaume-Uni] ; Mary G. Sweeney [Royaume-Uni] ; Andrea Haworth [Royaume-Uni] ; Catherine A. Sandford [Royaume-Uni] ; Simon J. R. Heales [Royaume-Uni] ; Nicholas W. Wood [Royaume-Uni] ; Mary B. Davis [Royaume-Uni] ; Andrew Lees (neurologue) [Royaume-Uni]	An intragenic duplication in guanosine triphosphate cyclohydrolase‐1 gene in a dopa‐responsive dystonia family
001C73 (2010)	Xin Liu [République populaire de Chine] ; Shu-Shan Zhang [République populaire de Chine] ; Deng-Fu Fang [République populaire de Chine] ; Ming-Yi Ma [République populaire de Chine] ; Xiao-Yan Guo [République populaire de Chine] ; Yuan Yang [République populaire de Chine] ; Hui-Fang Shang [République populaire de Chine]	GCH1 mutation and clinical study of Chinese patients with dopa‐responsive dystonia
001C82 (2010)	Li Cao [République populaire de Chine] ; Lan Zheng [République populaire de Chine] ; Wei-Guo Tang [République populaire de Chine] ; Qin Xiao [République populaire de Chine] ; Ting Zhang [République populaire de Chine] ; Hui-Dong Tang [République populaire de Chine] ; Song-Bin He [République populaire de Chine] ; Xi-Jin Wang [République populaire de Chine] ; Jian-Qing Ding [République populaire de Chine] ; Sheng-Di Chen [République populaire de Chine]	Four novel mutations in the GCH1 gene of Chinese patients with dopa‐responsive dystonia
002132 (2009)	Hiroki Fujioka [Japon] ; Haruo Shintaku [Japon] ; Satoshi Kudo [Japon] ; Tsunekazu Yamano [Japon] ; Hiroki Fujioka [Japon]	Plasma phenylalanine level in dopa‐responsive dystonia
002298 (2009)	Stephanie A. Cobb [États-Unis] ; Christian Wider [États-Unis] ; Owen A. Ross [États-Unis] ; Ignacio F. Mata [États-Unis] ; Charles H. Adler [États-Unis] ; Alex Rajput [Canada] ; Ali H. Rajput [Canada] ; Ruey-Meei Wu [Taïwan] ; Robert Hauser [États-Unis] ; Keith A. Josephs [États-Unis] ; Jonathan Carr [Afrique du Sud] ; Katrina Gwinn [États-Unis] ; Michael G. Heckman [États-Unis] ; Jan O. Aasly [Norvège] ; Timothy Lynch [Irlande (pays)] ; Ryan J. Uitti [États-Unis] ; Zbigniew K. Wszolek [États-Unis] ; Gregory Kapatos [États-Unis] ; Matthew J. Farrer [États-Unis]	GCH1 in early‐onset Parkinson's disease
002728 (2008)	Sarah Teixeira Camargos [Brésil] ; Francisco Cardoso [Brésil] ; Parastoo Momeni [États-Unis] ; Juliana Gurgel Gianetti [Brésil] ; Andrew Lees (neurologue) [Royaume-Uni] ; John Hardy [États-Unis, Royaume-Uni] ; Andrew Singleton [États-Unis]	Novel GCH1 mutation in a Brazilian family with dopa‐responsive dystonia
003476 (2006)	Lena Elisabeth Hjermind [Danemark] ; Lis Gitte Johannsen [Danemark] ; Nenad Blau [Suisse] ; Ron Allan Wevers [Pays-Bas] ; Christoph-Burkhard Lucking [Allemagne] ; Jens Michael Hertz [Danemark] ; Lars Friberg [Danemark] ; Lisbeth Regeur [Danemark] ; J Rgen Erik Nielsen [Danemark] ; Sven Asger S Rensen [Danemark]	Dopa‐responsive dystonia and early‐onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?
003A47 (2005)	Etsuro Ohta [Japon] ; Itaru Toyoshima [Japon] ; Manabu Funayama [Japon] ; Hiroshi Ichinose [Japon] ; Kazuko Hasegawa [Japon] ; Fumiya Obata [Japon]	A new mutation (Thr106Ile) of the GTP cyclohydrolase 1 gene associated with DYT5 dystonia (Segawa disease)
003A87 (2004)	Antonino Uncini [Italie] ; Maria Vittoria De Angelis [Italie] ; Patrizia Di Fulvio [Italie] ; Michele Ragno [Italie] ; Grazia Annesi [Italie] ; Alessandro Filla [Italie] ; Liborio Stuppia [Italie] ; Domenico Gambi [Italie]	Wide expressivity variation and high but no gender‐related penetrance in two dopa‐responsive dystonia families with a novel GCH‐I mutation
003E15 (2004)	Akio Kikuchi [Japon] ; Atsushi Takeda [Japon] ; Kazuo Fujihara [Japon] ; Teiko Kimpara [Japon] ; Yusei Shiga [Japon] ; Hiroaki Tanji [Japon] ; Makiko Nagai [Japon] ; Hiroshi Ichinose [Japon] ; Fumi Urano [Japon] ; Nobuyuki Okamura [Japon] ; Hiroyuki Arai [Japon] ; Yasuto Itoyama [Japon]	Arg(184)his mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa‐responsive dystonia with parkinsonism: A case report
003E21 (2004)	Yoshiaki Furukawa [Canada] ; James J. Filiano [États-Unis] ; Stephen J. Kish [Canada]	Amantadine for levodopa‐induced choreic dyskinesia in compound heterozygotes for GCH1 mutations
004031 (2003)	Sergei N. Illarioshkin [Russie] ; Magali Periquet [France] ; Nina Rawal [France] ; Christoph B. Lücking [France] ; Tatyana B. Zagorovskaya [Russie] ; Pyotr A. Slominsky [Russie] ; Olga V. Miloserdova [Russie] ; Elena D. Markova [Russie] ; Svetlana A. Limborska [Russie] ; Irina A. Ivanova-Smolenskaya [Russie] ; Alexis Brice [France]	Mutation analysis of the parkin gene in Russian families with autosomal recessive juvenile parkinsonism
004739 (2001)	J. Hoenicka [Espagne] ; L. Vidal [Espagne] ; M. Godoy [Espagne] ; J. J. Ochoa [Espagne] ; J. García De Yébenes [Espagne]	New nonsense mutation in the GTP‐cyclohydrolase I gene in L‐DOPA responsive dystonia‐parkinsonism
004D64 (1999)	Yoshiaki Furukawa [Canada] ; Stephen J. Kish [Canada]	Dopa‐responsive dystonia: Recent advances and remaining issues to be addressed

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