Genetic Heterogeneity < Genetic Linkage < Genetic Loci

Facettes :

List of bibliographic references

Number of relevant bibliographic references: 47.
[0-20] [0 - 20][0 - 47][20-40]

Ident.	Authors (with country if any)	Title
000305 (2015)	Janel O. Johnson [Royaume-Uni] ; Giovanni Stevanin ; Joyce Van De Leemput ; Dena G. Hernandez ; Sampath Arepalli ; Sylvie Forlani ; Reza Zonozi ; J Raphael Gibbs ; Alexis Brice ; Alexandra Durr ; Andrew B. Singleton	A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome.
000B53 (2012)	Anne Weissbach [Allemagne] ; Katharina Siegesmund ; Norbert Brüggemann ; Alexander Schmidt ; Meike Kasten ; Irene Pichler ; Hiltrud Muhle ; Ebba Lohmann ; Thora Lohnau ; Eberhard Schwinger ; Johann Hagenah ; Ulrich Stephani ; Peter P. Pramstaller ; Christine Klein ; Katja Lohmann	Exome sequencing in a family with restless legs syndrome.
000B86 (2012)	Pia Winter [Allemagne] ; Christoph Kamm ; Saskia Biskup ; Angelika Köhler ; Barbara Leube ; Georg Auburger ; Thomas Gasser ; Rainer Benecke ; Ulrich Müller	DYT7 gene locus for cervical dystonia on chromosome 18p is questionable.
000C46 (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.
000C57 (2012)	George K. Tofaris [Royaume-Uni]	Lysosome-dependent pathways as a unifying theme in Parkinson's disease.
000F80 (2012)	Oswaldo Lorenzo-Betancor [Espagne] ; Lluís Samaranch ; Mario Ezquerra ; Eduardo Tolosa ; Elena Lorenzo ; Jaione Irigoyen ; Carles Gaig ; María A. Pastor ; Alexandra I. Soto-Ortolaza ; Owen A. Ross ; María C. Rodríguez-Oroz ; Francesc Valldeoriola ; María J. Martí ; María R. Luquin ; Jordi Perez-Tur ; Juan A. Burguera ; José A. Obeso ; Pau Pastor	LRRK2 haplotype-sharing analysis in Parkinson's disease reveals a novel p.S1761R mutation.
001018 (2011)	Robert A. Wilcox [Australie] ; Susen Winkler ; Katja Lohmann ; Christine Klein	Whispering dysphonia in an Australian family (DYT4): a clinical and genetic reappraisal.
001140 (2011)	Jeanne C. Latourelle [États-Unis] ; Audrey E. Hendricks ; Nathan Pankratz ; Jemma B. Wilk ; Cheryl Halter ; William C. Nichols ; James F. Gusella ; Anita L. Destefano ; Richard H. Myers ; Tatiana Foroud	Genomewide linkage study of modifiers of LRRK2-related Parkinson's disease.
001143 (2011)	Katrina Gwinn ; Michael J. Devine ; Lee-Way Jin ; Janel Johnson ; Thomas Bird ; Manfred Muenter ; Cheryl Waters ; Charles H. Adler ; Richard Caselli ; Henry Houlden ; Grisel Lopez ; Amanda Singleton ; John Hardy ; Andrew Singleton	Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by α-synuclein triplication (Iowa kindred).
001F29 (2009)	Donald L. Gilbert [États-Unis] ; Elizabeth J. Leslie ; Mehdi Keddache ; Nancy D. Leslie	A novel hereditary spastic paraplegia with dystonia linked to chromosome 2q24-2q31.
002077 (2008)	Maurizio F. Facheris [États-Unis] ; Nicole K. Schneider ; Timothy G. Lesnick ; Mariza De Andrade ; Julie M. Cunningham ; Walter A. Rocca ; Demetrius M. Maraganore	Coffee, caffeine-related genes, and Parkinson's disease: a case-control study.
002294 (2008)	Sonja Scholz [États-Unis] ; Andrew Singleton	Susceptibility genes in movement disorders.
002378 (2008)	Amir Boukhris [Tunisie] ; Imed Feki ; Elodie Denis ; Mohamed Imed Miladi ; Alexis Brice ; Chokri Mhiri ; Giovanni Stevanin	Spastic paraplegia 15: linkage and clinical description of three Tunisian families.
002561 (2007)	Michael Orth [Allemagne] ; Ana Djarmati ; Tobias B Umer ; Susan Winkler ; Anne Grünewald ; Katja Lohmann-Hedrich ; Kemal Kabakci ; Johann Hagenah ; Christine Klein ; Alexander Münchau	Autosomal dominant myoclonus-dystonia and Tourette syndrome in a family without linkage to the SGCE gene.
002649 (2007)	Juliane Winkelmann [Allemagne] ; Oli Polo ; Federica Provini ; Sonja Nevsimalova ; David Kemlink ; Karel Sonka ; Birgit Högl ; Werner Poewe ; Karin Stiasny-Kolster ; Wolfgang Oertel ; Al De Weerd ; Luigi Ferini Strambi ; Marco Zucconi ; Peter P. Pramstaller ; Isabelle Arnulf ; Claudia Trenkwalder ; Christine Klein ; Georgios M. Hadjigeorgiou ; Svenja Happe ; David Rye ; Pasquale Montagna	Genetics of restless legs syndrome (RLS): State-of-the-art and future directions.
002911 (2007)	Kristoffer Haugarvoll [États-Unis] ; Mathias Toft ; Owen A. Ross ; Jeremy T. Stone ; Michael G. Heckman ; Linda R. White ; Timothy Lynch ; John Mark Gibson ; Zbigniew K. Wszolek ; Ryan J. Uitti ; Jan O. Aasly ; Matthew J. Farrer	ELAVL4, PARK10, and the Celts.
003017 (2005)	Maher A. Noureddine [États-Unis] ; Yi-Ju Li ; Joelle M. Van Der Walt ; Robert Walters ; Rita M. Jewett ; Hong Xu ; Tianyuan Wang ; Jeffrey W. Walter ; Burton L. Scott ; Christine Hulette ; Don Schmechel ; Judith E. Stenger ; Fred Dietrich ; Jeffery M. Vance ; Michael A. Hauser	Genomic convergence to identify candidate genes for Parkinson disease: SAGE analysis of the substantia nigra.
003041 (2005)	Katja Hedrich [Allemagne] ; Peter P. Pramstaller ; Katrin Stübke ; Anja Hiller ; Kemal Kabakci ; Sabine Purmann ; Meike Kasten ; Cesa Scaglione ; Eberhard Schwinger ; Jens Volkmann ; Vladimir Kostic ; Peter Vieregge ; Paolo Martinelli ; Giovanni Abbruzzese ; Christine Klein ; Christine Zühlke	Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease?
003264 (2004)	Jacek Zaremba [Pologne] ; Hanna Mierzewska ; Zofia Lysiak ; Patricia Kramer ; Laurie J. Ozelius ; Allison Brashear	Rapid-onset dystonia-parkinsonism: a fourth family consistent with linkage to chromosome 19q13.
003401 (2004)	Christoph Kamm [États-Unis] ; Joanne Leung ; Soni Joseph ; William B. Dobyns ; Alison Brashear ; Xandra O. Breakefield ; Laurie J. Ozelius	Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene.
003446 (2004)	Anthony P. Nicholas [États-Unis] ; Elizabeth O'Hearn ; Susan E. Holmes ; Dung-Tsa Chen ; Russell L. Margolis	Clinical signs and symptoms in a large hereditary spastic paraparesis pedigree with a novel spastin mutation.

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