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
000033 (2015)	Madeleine E. Sharp [États-Unis] ; Elise Caccappolo ; Helen Mejia-Santana ; Ming-X Tang ; Llency Rosado ; Martha Orbe Reilly ; Diana Ruiz ; Elan D. Louis ; Cynthia Comella ; Martha Nance ; Susan Bressman ; William K. Scott ; Caroline Tanner ; Cheryl Waters ; Stanley Fahn ; Lucien Cote ; Blair Ford ; Michael Rezak ; Kevin Novak ; Joseph H. Friedman ; Ronald Pfeiffer ; Haydeh Payami ; Eric Molho ; Stuart A. Factor ; John Nutt ; Carmen Serrano ; Maritza Arroyo ; Michael W. Pauciulo ; William C. Nichols ; Lorraine N. Clark ; Roy N. Alcalay ; Karen S. Marder	The relationship between obsessive-compulsive symptoms and PARKIN genotype: The CORE-PD study.
000230 (2015)	Miryam Carecchio [Italie] ; Susanne A. Schneider [Allemagne]	GTP cyclohydrolase 1 mutations and Parkinson's disease: new insights beyond DOPA-responsive dystonia.
000483 (2014)	Lucia Ricciardi [Italie] ; Simona Petrucci ; Arianna Guidubaldi ; Tamara Ialongo ; Laura Serra ; Alessandro Ferraris ; Barbara Span ; Marco Bozzali ; Enza Maria Valente ; Anna Rita Bentivoglio	Phenotypic variability of PINK1 expression: 12 Years' clinical follow-up of two Italian families.
000573 (2014)	Martin B. Delatycki [Australie] ; Geneieve Tai ; Louise Corben ; Eppie M. Yiu ; Marguerite V. Evans-Galea ; Sarah E M. Stephenson ; Lyle Gurrin ; Katrina J. Allen ; David Lynch ; Paul J. Lockhart	HFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxia.
000665 (2014)	Lin Zhang [États-Unis] ; Dina Sukharev ; Andrea Schneider ; John M. Olichney ; Andreea Seritan ; Randi J. Hagerman	Case report: Dystonia in a fragile X carrier.
000713 (2014)	Paolo Calabresi [Italie] ; Veronica Ghiglieri	"Lazy" nigrostriatal synapses in the heterozygous PINK1 mouse model of familial Parkinson's disease.
000987 (2013)	Aikaterina Angeli [Royaume-Uni] ; Niccolo E. Mencacci ; Raquel Duran ; Iciar Aviles-Olmos ; Zinovia Kefalopoulou ; Joseph Candelario ; Sarah Rusbridge ; Jennifer Foley ; Priyanka Pradhan ; Marjan Jahanshahi ; Ludvic Zrinzo ; Marwan Hariz ; Nicholas W. Wood ; John Hardy ; Patricia Limousin ; Tom Foltynie	Genotype and phenotype in Parkinson's disease: lessons in heterogeneity from deep brain stimulation.
000F02 (2012)	Stefan P. Schmid [Allemagne] ; Erwin D. Schleicher ; Alexander Cegan ; Christian Deuschle ; Stephanie Baur ; Ann-Kathrin Hauser ; Matthis Synofzik ; Karin Srulijes ; Kathrin Brockmann ; Daniela Berg ; Walter Maetzler	Cerebrospinal fluid fatty acids in glucocerebrosidase-associated Parkinson's disease.
001080 (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 O	Subtle rapid eye movement sleep abnormalities in presymptomatic spinocerebellar ataxia type 2 gene carriers.
001374 (2011)	Ryu-Ichiro Hashimoto [États-Unis] ; Siddharth Srivastava ; Flora Tassone ; Randi J. Hagerman ; Susan M. Rivera	Diffusion tensor imaging in male premutation carriers of the fragile X mental retardation gene.
001420 (2011)	Kathrin Brockmann [Allemagne] ; Adriane Gröger ; Adriana Di Santo ; Inga Liepelt ; Claudia Schulte ; Uwe Klose ; Walter Maetzler ; Ann-Kathrin Hauser ; Ruediger Hilker ; Baltazar Gomez-Mancilla ; Daniela Berg ; Thomas Gasser	Clinical and brain imaging characteristics in leucine-rich repeat kinase 2-associated PD and asymptomatic mutation carriers.
001891 (2010)	Björn Machner ; Andreas Sprenger ; Maria Isabel Behrens ; Alfredo Ramirez ; Norbert Brüggemann ; Christine Klein ; Christoph Helmchen	Eye movement disorders in ATP13A2 mutation carriers (PARK9).
001C91 (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 Piccini	Nigrostriatal dysfunction in homozygous and heterozygous parkin gene carriers: an 18F-dopa PET progression study.
001D82 (2009)	Christine Klein [Allemagne] ; Susanne A. Schneider ; Anthony E. Lang	Hereditary parkinsonism: Parkinson disease look-alikes--an algorithm for clinicians to "PARK" genes and beyond.
001F16 (2009)	Marianna Amboni ; Maria Teresa Pellecchia ; Autilia Cozzolino ; Marina Picillo ; Carmine Vitale ; Paolo Barone ; Andrea Varrone ; Barbara Garavaglia ; Simona Gambelli ; Antonio Federico	Cerebellar and pyramidal dysfunctions, palpebral ptosis and weakness as presenting symptoms of PARK-2.
001F91 (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.
002151 (2008)	Eng-King Tan [Singapour] ; Hui-Qin Lim ; Yih Yuen ; Yi Zhao	Pathogenicity of LRRK2 P755L variant in Parkinson's disease.
002364 (2008)	Emmanuel Roze ; Emmanuelle Apartis ; Jean-Marc Trocello	Cortical excitability in DYT-11 positive myoclonus dystonia.
002429 (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 Brice	Are parkin patients particularly suited for deep-brain stimulation?
002431 (2008)	Sebastian Paus [Allemagne] ; Gabor Zsurka ; Miriam Baron ; Marcus Deschauer ; Christian Bamberg ; Thomas Klockgether ; Wolfram S. Kunz ; Cornelia Kornblum	Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations.
002466 (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 Shang	A novel mutation of the epsilon-sarcoglycan gene in a Chinese family with myoclonus-dystonia syndrome.

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