Genetic Therapy < Genetic Variation < Genetic Vectors

Facettes :

List of bibliographic references

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

Ident.	Authors (with country if any)	Title
000727 (2002)	Puneet Opal [États-Unis] ; Ron Tintner ; Joseph Jankovic [États-Unis] ; Joanne Leung ; Xandra O. Breakefield ; Jennifer Friedman ; Laurie Ozelius	Intrafamilial phenotypic variability of the DYT1 dystonia: from asymptomatic TOR1A gene carrier status to dystonic storm.
000909 (2002)	Anna Rita Bentivoglio [Italie] ; Mario Loi ; Enza M. Valente ; Tamara Ialongo ; Pietro Tonali ; Alberto Albanese	Phenotypic variability of DYT1-PTD: does the clinical spectrum include psychogenic dystonia?
000A95 (2003)	Louis C. Tan [États-Unis] ; Caroline M. Tanner ; Rong Chen ; Piu Chan ; Matthew Farrer ; John Hardy ; J William Langston	Marked variation in clinical presentation and age of onset in a family with a heterozygous parkin mutation.
000B01 (2003)	David R. Lynch [États-Unis] ; P David Mozley ; Set Sokol ; Nicole M C. Maas ; Laura J. Balcer ; Andrew D. Siderowf	Lack of effect of polymorphisms in dopamine metabolism related genes on imaging of TRODAT-1 in striatum of asymptomatic volunteers and patients with Parkinson's disease.
000C91 (2004)	Paola Costa-Mallen [États-Unis] ; Zahra Afsharinejad ; Samir N. Kelada ; Lucio G. Costa ; Gary M. Franklin ; Phillip D. Swanson ; W T Longstreth ; Hannah-Malia A. Viernes ; Federico M. Farin ; Terri Smith-Weller ; Harvey Checkoway	DNA sequence analysis of monoamine oxidase B gene coding and promoter regions in Parkinson's disease cases and unrelated controls.
000C93 (2004)	Alex Desautels [Canada] ; Gustavo Turecki ; Lan Xiong ; Daniel Rochefort ; Jacques Montplaisir ; Guy A. Rouleau	Mutational analysis of neurotensin in familial restless legs syndrome.
001004 (2004)	Antonino Uncini [Italie] ; Maria Vittoria De Angelis ; Patrizia Di Fulvio ; Michele Ragno ; Grazia Annesi ; Alessandro Filla ; Liborio Stuppia ; Domenico Gambi	Wide expressivity variation and high but no gender-related penetrance in two dopa-responsive dystonia families with a novel GCH-I mutation.
001292 (2005)	Samer Karamohamed [États-Unis] ; L I Golbe ; M H Mark ; A M Lazzarini ; O. Suchowersky ; N. Labelle ; Mark Guttman ; L J Currie ; G F Wooten ; M. Stacy ; M. Saint-Hilaire ; R G Feldman ; J. Liu ; C M Shoemaker ; J B Wilk ; A L Destefano ; J C Latourelle ; G. Xu ; R. Watts ; J. Growdon ; M. Lew ; C. Waters ; P. Vieregge ; P P Pramstaller ; C. Klein ; B A Racette ; J S Perlmutter ; A. Parsian ; Carlos Singer ; E. Montgomery ; K. Baker ; J F Gusella ; A. Herbert ; R H Myers	Absence of previously reported variants in the SCNA (G88C and G209A), NR4A2 (T291D and T245G) and the DJ-1 (T497C) genes in familial Parkinson's disease from the GenePD study.
001390 (2005)	Jeong-Hyun Kim [Corée du Sud] ; Yoon-Hee Cho ; Jeong-Kook Kim ; Yong-Gou Park ; Jin Woo Chang	Frequent sequence variation at the ETM2 locus and its association with sporadic essential tremor in Korea.
001418 (2006)	Nils Peters [Allemagne] ; Christoph Kamm ; Friedrich Asmus ; Elke Holinski-Feder ; Eduard Kraft ; Martin Dichgans ; Roland Brüning ; Thomas Gasser ; Kai Bötzel	Intrafamilial variability in fragile X-associated tremor/ataxia syndrome.
001486 (2006)	Joseph J. Higgins [États-Unis] ; Roni Q. Lombardi ; Joanna Pucilowska ; Joseph Jankovic [États-Unis] ; Lawrence I. Golbe ; Leo Verhagen	HS1-BP3 gene variant is common in familial essential tremor.
001765 (2006)	Andrea Carmine Belin [Suède] ; Marie Westerlund ; Olof Sydow ; Karin Lundströmer ; Anna H Kansson ; Hans Nissbrandt ; Lars Olson ; Dagmar Galter	Leucine-rich repeat kinase 2 (LRRK2) mutations in a Swedish Parkinson cohort and a healthy nonagenarian.
001815 (2006)	Eng-King Tan [Singapour] ; Kim-Yoong Puong ; Stephanie Fook-Chong ; Eva Chua ; Hui Shen ; Yih Yuen ; Ratnagopal Pavanni ; Meng-Cheong Wong ; Kathiravelu Puvan ; Yi Zhao	Case-control study of UCHL1 S18Y variant in Parkinson's disease.
001845 (2006)	Daniel G. Healy [Royaume-Uni] ; Patrick M. Abou-Sleiman ; Kourosh R. Ahmadi ; Sonia Gandhi ; Miratul M. Muqit ; Kailash P. Bhatia ; Niall P. Quinn ; Andrew J. Lees ; Janice L. Holton ; Tamas Revesz ; Nicholas W. Wood	NR4A2 genetic variation in sporadic Parkinson's disease: a genewide approach.
001974 (2007)	Ruth H. Walker [États-Unis] ; Hans H. Jung ; François Tison ; Soohee Lee ; Adrian Danek	Phenotypic variation among brothers with the McLeod neuroacanthocytosis syndrome.
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 Foroud	R1514Q substitution in Lrrk2 is not a pathogenic Parkinson's disease mutation.
001A88 (2007)	David R. Williams [Royaume-Uni] ; Alan M. Pittman ; Tamas Revesz ; Andrew J. Lees ; Rohan De Silva	Genetic variation at the tau locus and clinical syndromes associated with progressive supranuclear palsy.
001B37 (2007)	Owen A. Ross ; Matthew J. Farrer ; Ruey-Meei Wu	Common variants in Parkinson's disease.
002578 (2009)	Gavin Hudson ; Watcharee Tiangyou ; Andrea Stutt ; Martin Eccles ; Louise Robinson ; David J. Burn ; Patrick F. Chinnery	No association between common POLG1 variants and sporadic idiopathic Parkinson's disease.
002763 (2009)	Elena García-Martín [Espagne] ; Carmen Martínez ; Hortensia Alonso-Navarro ; Julián Benito-Le N ; Inmaculada Puertas ; Lluisa Rubio ; Tomás L Pez-Alburquerque ; José A G. Agúndez ; Félix Javier Jiménez-Jiménez	Dopamine receptor D3 (DRD3) genotype and allelic variants and risk for essential tremor.
002793 (2009)	Ana Djarmati [Allemagne] ; Johann Hagenah ; Kathrin Reetz ; Susen Winkler ; Maria Isabel Behrens ; Heike Pawlack ; Katja Lohmann ; Alfredo Ramirez ; Vera Tadi ; Norbert Brüggemann ; Daniela Berg ; Hartwig R. Siebner ; Anthony E. Lang ; Peter P. Pramstaller ; Ferdinand Binkofski ; Vladimir S. Kosti ; Jens Volkmann ; Thomas Gasser ; Christine Klein	ATP13A2 variants in early-onset Parkinson's disease patients and controls.

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