Serveur d'exploration sur la maladie de Parkinson - Corpus (Accueil)

Index « ISSN » - entrée « Hum. Mutat. »
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Hum. Mol. Genet. < Hum. Mutat. < Human Molecular Genetics  Facettes :

List of bibliographic references

Number of relevant bibliographic references: 23.
[0-20] [0 - 20][0 - 23][20-22][20-40]
Ident.Authors (with country if any)Title
000185 (2010) Karen Nuytemans ; Jessie Theuns ; Marc Cruts ; Christine Van BroeckhovenGenetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update
000233 (2011) Eugénie Mutez ; Frédéric Leprêtre ; Emilie Le Rhun ; Lydie Larvor ; Aurélie Duflot ; Vincent Mouroux ; Jean-Pierre Kerckaert ; Martin Figeac ; Kathy Dujardin ; Alain Destée ; Marie-Christine Chartier-HarlinSNCA locus duplication carriers: from genetics to Parkinson disease phenotypes
000307 (2008) Roberta Marongiu ; Alessandro Ferraris ; Tàmara Ialongo ; Silvia Michiorri ; Francesco Soleti ; Francesca Ferrari ; Antonio E. Elia ; Daniele Ghezzi ; Alberto Albanese ; Maria Concetta Altavista ; Angelo Antonini ; Paolo Barone ; Livia Brusa ; Pietro Cortelli ; Paolo Martinelli ; Maria Teresa Pellecchia ; Gianni Pezzoli ; Cesa Scaglione ; Paolo Stanzione ; Michele Tinazzi ; Anna Zecchinelli ; Massimo Zeviani ; Emanuele Cassetta ; Barbara Garavaglia ; Bruno Dallapiccola ; Anna Rita Bentivoglio ; Enza Maria ValentePINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum
000377 (2007) Eng-King Tan ; Lisa M. SkipperPathogenic mutations in Parkinson disease
000416 (2009) Coro Paisán-RuizLRRK2 gene variation and its contribution to Parkinson disease
000472 (2004) Ana Djarmati ; Katja Hedrich ; Marina Svetel ; Nora Sch Fer ; Vladislava Juric ; Slobodanka Vukosavic ; Robert Hering ; Olaf Riess ; Stanka Romac ; Christine Klein ; Vladimir KosticDetection of Parkin (PARK2) and DJ1 (PARK7) mutations in early‐onset Parkinson disease: Parkin mutation frequency depends on ethnic origin of patients
000532 (2006) Yonghong Li ; Steven Schrodi ; Charles Rowland ; Kristina Tacey ; Joseph Catanese ; Andrew GrupeGenetic evidence for ubiquitin‐specific proteases USP24 and USP40 as candidate genes for late‐onset Parkinson disease
000610 (2004) Robert Hering ; Karsten M. Strauss ; Xiao Tao ; Andreas Bauer ; Dirk Woitalla ; Eva-Maria Mietz ; Slobodanka Petrovic ; Peter Bauer ; Wilhelm Schaible ; Thomas Müller ; Ludger Schöls ; Christine Klein ; Daniela Berg ; Philipp T. Meyer ; Jörg B. Schulz ; Bernd Wollnik ; Liang Tong ; Rejko Krüger ; Olaf RiessNovel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7)
000617 (2010) Gerassimos E. Voutsinas ; Eleana F. Stavrou ; Gerassimos Karousos ; Aggeliki Dasoula ; Adamantia Papachatzopoulou ; Maria Syrrou ; Annemieke J. M. H. Verkerk ; Peter Van Der Spek ; George P. Patrinos ; Reinhard Stöger ; Aglaia AthanassiadouAllelic imbalance of expression and epigenetic regulation within the alpha‐synuclein wild‐type and p.Ala53Thr alleles in Parkinson disease
000898 (2008) Coro Paisán-Ruíz ; Priti Nath ; Nicole Washecka ; J. Raphael Gibbs ; Andrew B. SingletonComprehensive analysis of LRRK2 in publicly available Parkinson's disease cases and neurologically normal controls
000967 (2009) Balaji S. Srinivasan ; Jaleh Doostzadeh ; Farnaz Absalan ; Sharareh Mohandessi ; Roxana Jalili ; Saharnaz Bigdeli ; Justin Wang ; Jaydev Mahadevan ; Caroline L. G. Lee ; Ronald W. Davis ; J. William Langston ; Mostafa RonaghiWhole genome survey of coding SNPs reveals a reproducible pathway determinant of Parkinson disease
000A00 (2010) Eng-King Tan ; Rong Peng ; Yik-Ying Teo ; Louis C. Tan ; Dario Angeles ; Patrick Ho ; Meng-Ling Chen ; Chin-Hsien Lin ; Xue-Ye Mao ; Xue-Li Chang ; Kumar M. Prakash ; Jian-Jun Liu ; Wing-Lok Au ; Wei-Dong Le ; Joseph Jankovic ; Jean-Marc Burgunder ; Yi Zhao ; Ruey-Meei WuMultiple LRRK2 variants modulate risk of Parkinson disease: a chinese multicenter study
000B59 (2010) Güney Bademci ; Todd L. Edwards ; Andre L. Torres ; William K. Scott ; Stephan Züchner ; Eden R. Martin ; Jeffery M. Vance ; Liyong WangA rare novel deletion of the tyrosine hydroxylase gene in Parkinson disease
001175 (2009) Eng-King Tan ; F. Shaffra Refai ; Mobin Siddique ; Karen Yap ; Patrick Ho ; Stephanie Fook-Chong ; Yi ZhaoClinically reported heterozygous mutations in the PINK1 kinase domain exert a gene dosage effect
001381 (2007) Roberta Marongiu ; Francesco Brancati ; Angelo Antonini ; Tamara Ialongo ; Caterina Ceccarini ; Oronzo Scarciolla ; Anna Capalbo ; Riccardo Benti ; Gianni Pezzoli ; Bruno Dallapiccola ; Stefano Goldwurm ; Enza Maria ValenteWhole gene deletion and splicing mutations expand the PINK1 genotypic spectrum
001483 (2001) Silvia Buervenich ; Fengqing Xiang ; Olof Sydow ; Erik G. Jönsson ; Göran C. Sedvall ; Maria Anvret ; Lars OlsonIdentification of four novel polymorphisms in the calcitonin/α‐CGRP (CALCA) gene and an investigation of their possible associations with Parkinson disease, schizophrenia, and manic depression
001898 (2007) Suzanne Lesage ; Periquet Magali ; Ebba Lohmann ; Lucette Lacomblez ; Helio Teive ; Sabine Janin ; Pierre-Yves Cousin ; Alexandra Dürr ; Alexis BriceDeletion of the parkin and PACRG gene promoter in early‐onset parkinsonism
002363 (2011) Dario C. Angeles ; Bong-Hwa Gan ; Luisa Onstead ; Yi Zhao ; Kah-Leong Lim ; Justus Dachsel ; Heather Melrose ; Matt Farrer ; Zbigniew K. Wszolek ; Dennis W. Dickson ; Eng-King TanMutations in LRRK2 increase phosphorylation of peroxiredoxin 3 exacerbating oxidative stress‐induced neuronal death
002455 (1997) Rolf G. Boot ; Carla E. M. Hollak ; Marri Verhoek ; Paul Sloof ; Ben J. H. M. Poorthuis ; Wim J. Kleijer ; Ron A. Wevers ; Marinus H. J. Van Oers ; Marcel M. A. M. Mannens ; Johannes M. F. G. Aerts ; Sonja Van WeelyGlucocerebrosidase genotype of Gaucher patients in The Netherlands: Limitations in prognostic value
002486 (2002) Damian C. CrowtherFamilial conformational diseases and dementias
002514 (2008) Javier Simon-Sanchez ; Sonja Scholz ; Maria Del Mar Matarin ; Hon-Chung Fung ; Dena Hernandez ; J Raphael Gibbs ; Angela Britton ; John Hardy ; Andrew SingletonGenomewide SNP assay reveals mutations underlying Parkinson disease

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