Movement Disorders (revue) - Checkpoint (Ncbi)

Index « Mesh.i » - entrée « Heterozygote »
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Heterocyclic Compounds, 2-Ring < Heterozygote < Heterozygote Detection  Facettes :

List of bibliographic references

Number of relevant bibliographic references: 32.
[0-20] [0 - 20][0 - 32][20-31][20-40]
Ident.Authors (with country if any)Title
000369 (2000) F. Cardoso [Brésil] ; J T De Oliveira ; M. Puccioni-Sohler ; A R Fernandes ; J P De Mattos ; I. Lopes-CendesEyelid dystonia in Machado-Joseph disease.
000402 (2000) A. Filla [Italie] ; G. De Michele ; G. Coppola ; A. Federico ; G. Vita ; A. Toscano ; A. Uncini ; P. Pisanelli ; P. Barone ; V. Scarano ; A. Perretti ; L. Santoro ; A. Monticelli ; F. Cavalcanti ; G. Caruso ; S. CocozzaAccuracy of clinical diagnostic criteria for Friedreich's ataxia.
000804 (2002) Danqing Zhu [Australie] ; Christopher Burke ; Anthony Leslie ; Garth A. NicholsonFriedreich's ataxia with chorea and myoclonus caused by a compound heterozygosity for a novel deletion and the trinucleotide GAA expansion.
000B66 (2003) Brian F. O'Donnell [États-Unis] ; Marcia A. Wilt ; Ann Marie Hake ; Julie C. Stout ; Sandra C. Kirkwood ; Tatiana ForoudVisual function in Huntington's disease patients and presymptomatic gene carriers.
000E39 (2004) William C. Nichols [États-Unis] ; Sean K. Uniacke ; Nathan Pankratz ; Terry Reed ; David K. Simon ; Cheryl Halter ; Alice Rudolph ; Clifford W. Shults ; P Michael Conneally ; Tatiana ForoudEvaluation of the role of Nurr1 in a large sample of familial Parkinson's disease.
000F75 (2004) Yoshiaki Furukawa [Canada] ; James J. Filiano ; Stephen J. KishAmantadine for levodopa-induced choreic dyskinesia in compound heterozygotes for GCH1 mutations.
001131 (2005) Naheed L. Khan [Royaume-Uni] ; Wagner Horta ; Louise Eunson ; Elizabeth Graham ; Janel O. Johnson ; Shannon Chang ; Mary Davis ; Andrew Singleton ; Nicholas W. Wood ; Andrew J. LeesParkin disease in a Brazilian kindred: Manifesting heterozygotes and clinical follow-up over 10 years.
001186 (2005) Yu-Hu Zhang [République populaire de Chine] ; Bei-Sha Tang [République populaire de Chine] ; Ai-Ling Zhao [République populaire de Chine] ; Kun Xia [République populaire de Chine] ; Zhi-Gao Long [République populaire de Chine] ; Ji-Feng Guo [République populaire de Chine] ; Shawn K. Westaway [États-Unis] ; Susan J. Hayflick [États-Unis]Novel Compound Heterozygous Mutations in the PANK2 Gene in a Chinese Patient With Atypical Pantothenate Kinase-Associated Neurodegeneration
001828 (2006) Ina Schmitt ; Ullrich Wüllner ; Daniel G. Healy ; Nicholas W. Wood ; Heike Kölsch ; Reinhard HeunThe ADH1C stop mutation in multiple system atrophy patients and healthy probands in the United Kingdom and Germany.
001968 (2007) Maureen A. Leehey [États-Unis] ; Elizabeth Berry-Kravis ; Sung-Joon Min ; Deborah A. Hall ; Cathlin D. Rice ; Lin Zhang ; Jim Grigsby ; Claudia M. Greco ; Ann Reynolds ; Rebecca Lara ; Jennifer Cogswell ; Sebastien Jacquemont ; David R. Hessl ; Flora Tassone ; Randi Hagerman ; Paul J. HagermanProgression of tremor and ataxia in male carriers of the FMR1 premutation.
002038 (2008) Ebba Lohmann [France] ; Marie-Laure Welter ; Valérie Fraix ; Paul Krack ; Suzanne Lesage ; Sophie Laine ; Marie-Laure Tanguy ; Jean-Luc Houeto ; Valérie Mesnage ; Pierre Pollak ; Alexandra Durr ; Yves Agid [France] ; Alexis BriceAre parkin patients particularly suited for deep-brain stimulation?
002040 (2008) Eng-King Tan [Singapour] ; Hui-Qin Lim ; Yih Yuen ; Yi ZhaoPathogenicity of LRRK2 P755L variant in Parkinson's disease.
002044 (2008) Emmanuel Roze ; Emmanuelle Apartis ; Jean-Marc TrocelloCortical excitability in DYT-11 positive myoclonus dystonia.
002181 (2008) Sebastian Paus [Allemagne] ; Gabor Zsurka ; Miriam Baron ; Marcus Deschauer ; Christian Bamberg ; Thomas Klockgether ; Wolfram S. Kunz ; Cornelia KornblumApraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations.
002191 (2008) Xue-Ping Chen [République populaire de Chine] ; Yang-Wei Zhang ; Shu-Shan Zhang ; Qin Chen ; Jean-Marc Burgunder ; Shu-Hui Wu ; Yuan Yang ; Zu-Ming Luo ; Hui-Fang ShangA novel mutation of the epsilon-sarcoglycan gene in a Chinese family with myoclonus-dystonia syndrome.
002419 (2009) Marianna Amboni ; Maria Teresa Pellecchia ; Autilia Cozzolino ; Marina Picillo ; Carmine Vitale ; Paolo Barone ; Andrea Varrone ; Barbara Garavaglia ; Simona Gambelli ; Antonio FedericoCerebellar and pyramidal dysfunctions, palpebral ptosis and weakness as presenting symptoms of PARK-2.
002714 (2009) Giovanni Antonio Cocco ; Georgios Loudianos ; Giovanni Mario Pes ; Francesco Tolu ; Maria Barbara Lepori ; Marianna Barrocu ; Gian Pietro Sechi"Acquired" hepatocerebral degeneration in a patient heterozygote carrier for a novel mutation in ATP7B gene.
002812 (2009) Christine Klein [Allemagne] ; Susanne A. Schneider ; Anthony E. LangHereditary parkinsonism: Parkinson disease look-alikes--an algorithm for clinicians to "PARK" genes and beyond.
002846 (2009) Nicola Pavese [Royaume-Uni] ; Naheed L. Khan ; Christoph Scherfler ; Lisa Cohen ; David J. Brooks ; Nicholas W. Wood ; Kailash P. Bhatia ; Niall P. Quinn ; Andrew J. Lees ; Paola PicciniNigrostriatal dysfunction in homozygous and heterozygous parkin gene carriers: an 18F-dopa PET progression study.
002E65 (2010) Björn Machner ; Andreas Sprenger ; Maria Isabel Behrens ; Alfredo Ramirez ; Norbert Brüggemann ; Christine Klein ; Christoph HelmchenEye movement disorders in ATP13A2 mutation carriers (PARK9).
002F22 (2011) Roberto Rodríguez-Labrada [Cuba] ; Luis Velázquez-Perez ; Nalia Canales Ochoa ; Lourdes Galicia Polo ; Reyes Haro Valencia ; Gilberto Sánchez Cruz ; Jacqueline Medrano Montero ; José M. Laffita-Mesa ; Luis E Almaguer Mederos ; Yanetza González Zaldívar ; Cira Torres Parra ; Arnoy Pe A Acosta ; Tania Cruz Mari OSubtle rapid eye movement sleep abnormalities in presymptomatic spinocerebellar ataxia type 2 gene carriers.

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