Movement Disorders (revue) - Checkpoint (Ncbi)

Index « Mesh.i » - entrée « Arginine »
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Argentina < Arginine < Arginine-tRNA Ligase  Facettes :

List of bibliographic references

Number of relevant bibliographic references: 26.
[0-20] [0 - 20][0 - 26][20-25][20-40]
Ident.Authors (with country if any)Title
000E25 (2004) Akio Kikuchi [Japon] ; Atsushi Takeda ; Kazuo Fujihara ; Teiko Kimpara ; Yusei Shiga ; Hiroaki Tanji ; Makiko Nagai ; Hiroshi Ichinose ; Fumi Urano ; Nobuyuki Okamura ; Hiroyuki Arai ; Yasuto ItoyamaArg(184)His mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with parkinsonism: a case report.
001354 (2005) Eliecer Coto [Espagne] ; Daniel Armenta ; Raúl Espinosa ; Joaquín Argente ; M Nica G. Castro ; Victoria AlvarezRecessive hyperekplexia due to a new mutation (R100H) in the GLRA1 gene.
001427 (2006) Paola Valentino [Italie] ; Grazia Annesi ; Innocenza C. Cir Candiano ; Ferdinanda Annesi ; Donatella Civitelli ; Patrizia Tarantino ; Francesco Naso ; Patrizia Spadafora ; Sara Carrideo ; Elvira V. De Marco ; Domenico Consoli ; Mario Zappia ; Antonio Gambardella ; Aldo QuattroneGenetic heterogeneity in patients with pantothenate kinase-associated neurodegeneration and classic magnetic resonance imaging eye-of-the-tiger pattern.
001557 (2006) Tsao-Wei Liang [États-Unis] ; Adam C. Truax ; John Q. Trojanowski ; Virginia M-Y Lee ; Matthew B. Stern ; Paul T. KotzbauerPartial deficit of pantothenate kinase 2 catalytic activity in a case of tremor-predominant neurodegeneration with brain iron accumulation.
001855 (2006) Javier Sim N-Sánchez [Espagne] ; José-Félix Martí-Mass ; José Vicente Sánchez-Mut ; Coro Paisán-Ruiz ; Angel Martínez-Gil ; Javier Ruiz-Martínez ; Amets Sáenz ; Andrew B. Singleton ; Adolfo L Pez De Munain ; Jordi Pérez-TurParkinson's disease due to the R1441G mutation in Dardarin: a founder effect in the Basques.
001941 (2007) David Gosal ; Timothy Lynch ; Owen A. Ross ; Kristoffer Haugarvoll ; Matthew J. Farrer ; J Mark GibsonGlobal distribution and reduced penetrance: Lrrk2 R1441C in an Irish Parkinson's disease kindred.
001993 (2007) William C. Nichols [États-Unis] ; Diane K. Marek ; Michael W. Pauciulo ; Nathan Pankratz ; Cheryl A. Halter ; Alice Rudolph ; Clifford W. Shults ; Joanne Wojcieszek ; Tatiana ForoudR1514Q substitution in Lrrk2 is not a pathogenic Parkinson's disease mutation.
001A08 (2007) Mathias Toft [États-Unis] ; Ignacio F. Mata ; Owen A. Ross ; Jennifer Kachergus ; Mary M. Hulihan ; Kristoffer Haugarvoll ; Jeremy T. Stone ; Marta Blazquez ; J Mark Gibson ; Jan O. Aasly ; Linda R. White ; Timothy Lynch ; Charles H. Adler ; Katrina Gwinn-Hardy ; Matthew J. FarrerPathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease.
001B05 (2007) Eng-King Tan ; Stephanie Fook-Chong ; Zhao YiComparing LRRK2 Gly2385Arg carriers with noncarriers.
001D79 (2007) Eng-King Tan [Singapour] ; Yi Zhao ; Louis Tan ; Hui-Qin Lim ; Jasinda Lee ; Yih Yuen ; Ratnagopal Pavanni ; Meng-Cheong Wong ; Stephanie Fook-Chong ; Jian-Jun LiuAnalysis of LRRK2 Gly2385Arg genetic variant in non-Chinese Asians.
001D99 (2007) Friedrich Asmus [Allemagne] ; Anita Devlin ; Marita Munz ; Alexander Zimprich ; Thomas Gasser ; Patrick F. ChinneryClinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia.
001F31 (2008) Maria Teresa Pellecchia [Italie] ; Katia Longo ; Michela Manfredi ; Claudio Lucetti ; Giovanni Cossu ; Alfredo Petrone ; Roberto Marconi ; Mariachiara Sensi ; Antonio Epifanio ; Roberto Eleopra ; Roberta Marchese ; Tomaso Scaravilli ; Letterio Morgante ; Giovanni Abbruzzese ; Ubaldo Bonuccelli ; Edoardo Donati ; Rosario Pivonello ; Annamaria Colao ; Paolo BaroneThe arginine growth hormone stimulation test in bradykinetic-rigid parkinsonisms.
001F37 (2008) Sarah Teixeira Camargos [Brésil] ; Francisco Cardoso ; Parastoo Momeni ; Juliana Gurgel Gianetti ; Andrew Lees ; John Hardy ; Andrew SingletonNovel GCH1 mutation in a Brazilian family with dopa-responsive dystonia.
001F44 (2008) Juliane Winkelmann [Allemagne] ; Peter Lichtner ; Barbara Schormair ; Manfred Uhr ; Stephanie Hauk ; Karin Stiasny-Kolster ; Claudia Trenkwalder ; Walter Paulus ; Ines Peglau ; Ilonka Eisensehr ; Thomas Illig ; H-Erich Wichmann ; Hildegard Pfister ; Jelena Golic ; Thomas Bettecken ; Benno Pütz ; Florian Holsboer ; Thomas Meitinger ; Bertram Müller-MyhsokVariants in the neuronal nitric oxide synthase (nNOS, NOS1) gene are associated with restless legs syndrome.
002167 (2008) Wilson F. Abdo ; Marcel M. Verbeek ; Bastiaan R. BloemThe accuracy of the arginine growth hormone test in Parkinsonism.
002249 (2008) Vasiliki Koukouni [Royaume-Uni] ; Enza Maria Valente ; Carla Cordivari ; Kailash P. Bhatia ; Niall P. QuinnUnusual familial presentation of epsilon-sarcoglycan gene mutation with falls and writer's cramp.
002600 (2009) Cyrus P. Zabetian [États-Unis] ; Mitsutoshi Yamamoto [Japon] ; Alexis N. Lopez [États-Unis] ; Hiroshi Ujike [Japon] ; Ignacio F. Mata [États-Unis] ; Yuishin Izumi [Japon] ; Ryuji Kaji [Japon] ; Hirofumi Maruyama [Japon] ; Hiroyuki Morino [Japon] ; Masaya Oda [Japon] ; Carolyn M. Hutter [États-Unis] ; Karen L. Edwards [États-Unis] ; Gerard D. Schellenberg [États-Unis] ; Debby W. Tsuang [États-Unis] ; Dora Yearout [États-Unis] ; Eric B. Larson [États-Unis] ; Hideshi Kawakami [Japon]LRRK2 Mutations and Risk Variants in Japanese Patients with Parkinson’s Disease
002605 (2009) Seyedmehdi Shojaee [Iran] ; Farzad Sina ; Niloofar Farboodi ; Zeinab Fazlali ; Farzaneh Ghazavi ; Seyed Ali Ghorashi ; Khosro Parsa ; Homa Sadeghi ; Gholam-Ali Shahidi ; Mostafa Ronaghi ; Elahe ElahiA clinic-based screening of mutations in exons 31, 34, 35, 41, and 48 of LRRK2 in Iranian Parkinson's disease patients.
002773 (2009) Zijuan Zhang [République populaire de Chine] ; Jean-Marc Burgunder ; Xingkai An ; Yan Wu ; Wenjun Chen ; Jinhong Zhang ; Yingcheng Wang ; Yanming Xu ; Yingru Gou ; Guanggu Yuan ; Xueye Mao ; Rong PengLRRK2 R1628P variant is a risk factor of Parkinson's disease among Han-Chinese from mainland China.
002813 (2009) José-Félix Martí-Mass [Espagne] ; Javier Ruiz-Martínez ; Maria J. Bola O ; Irune Ruiz ; Ana Gorostidi ; Fermin Moreno ; Isidre Ferrer ; Adolfo L Pez De MunainNeuropathology of Parkinson's disease with the R1441G mutation in LRRK2.
002897 (2009) Coro Paisán-Ruiz ; Javier Ruiz-Martinez ; Marta Ruibal ; Kin Y. Mok ; Begona Indakoetxea ; Ana Gorostidi ; José F. Martí MassIdentification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia.

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