Exome < Exons < Exosomes

Facettes :

List of bibliographic references

Number of relevant bibliographic references: 87.
[0-20] [0 - 20][0 - 50][20-40]

Ident.	Authors (with country if any)	Title
000130 (1999)	L. Baum [République populaire de Chine] ; Z Y Dong ; H K Ng ; L K Law ; J. Woo ; C P Pang	Low-density lipoprotein receptor-related protein (LRP) gene 766T polymorphism and Parkinson's disease.
000424 (2001)	H. Ujike [Japon] ; M. Yamamoto ; A. Kanzaki ; K. Okumura ; M. Takaki ; S. Kuroda	Prevalence of homozygous deletions of the parkin gene in a cohort of patients with sporadic and familial Parkinson's disease.
000437 (2001)	C S Lu [Taïwan] ; J C Wu ; C H Tsai ; R S Chen ; Y H Chou ; N. Hattori ; H. Yoshino ; Y. Mizuno	Clinical and genetic studies on familial parkinsonism: the first report on a parkin gene mutation in a Taiwanese family.
000835 (2002)	Johannes Schiefer [Allemagne] ; G Bernhard Landwehrmeyer ; Hans-Gerd Lüesse ; Arne Sprünken ; Christiane Puls ; Anna Milkereit ; Eva Milkereit ; Christoph M. Kosinski	Riluzole prolongs survival time and alters nuclear inclusion formation in a transgenic mouse model of Huntington's disease.
000944 (2002)	Pauline L. Lee [États-Unis] ; Terri Gelbart ; Carol West ; Carol Halloran ; Jack C. Sipe ; Ernest Beutler	Polymorphisms in iron-responsive binding protein 2 and lack of association with sporadic Parkinson's disease.
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.
000C17 (2003)	Demetrius M. Maraganore [États-Unis] ; Matthew J. Farrer ; Timothy G. Lesnick ; Mariza De Andrade ; James H. Bower ; Dena Hernandez ; John A. Hardy ; Walter A. Rocca	Case-control study of the alpha-synuclein interacting protein gene and Parkinson's disease.
000C27 (2003)	Sarah J. Lincoln [États-Unis] ; Demetrius M. Maraganore ; Timothy G. Lesnick ; Rebecca Bounds ; Mariza De Andrade ; James H. Bower ; John A. Hardy ; Matthew J. Farrer	Parkin variants in North American Parkinson's disease: cases and controls.
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.
000C95 (2004)	Paul J. Lockhart [États-Unis] ; Casey A. O'Farrell ; Matthew J. Farrer	It's a double knock-out! The quaking mouse is a spontaneous deletion of parkin and parkin co-regulated gene (PACRG).
000D42 (2004)	Norman Kock [Allemagne] ; Meike Kasten ; Birgitt Schüle ; Katja Hedrich ; Karin Wiegers ; Kemal Kabakci ; Johann Hagenah ; Peter P. Pramstaller ; Matthias F. Nitschke ; Alexander Münchau ; Jürgen Sperner ; Christine Klein	Clinical and genetic features of myoclonus-dystonia in 3 cases: a video presentation.
000E15 (2004)	Meltem Müftüoglu [Turquie] ; Bülent Elibol ; Ozlem Dalmizrak ; Ayse Ercan ; Gülnihal Kulaksiz ; Hamdi Ogüs ; Turgay Dalkara ; Nazmi Ozer	Mitochondrial complex I and IV activities in leukocytes from patients with parkin mutations.
000E69 (2004)	Lorraine N. Clark [États-Unis] ; Shehla Afridi ; Helen Mejia-Santana ; Juliette Harris ; Elan D. Louis ; Lucien J. Cote ; Howard Andrews ; Andrew Singleton ; Fabienne Wavrant De-Vrieze ; John Hardy ; Richard Mayeux ; Stanley Fahn ; Cheryl Waters ; Blair Ford ; Steven Frucht ; Ruth Ottman ; Karen Marder	Analysis of an early-onset Parkinson's disease cohort for DJ-1 mutations.
000E72 (2004)	Okan Dogu [Turquie] ; Janel Johnson ; Dena Hernandez ; Melissa Hanson ; John Hardy ; Hulya Apaydin ; Sibel Ozekmekçi ; Serhan Sevim ; Katrina Gwinn-Hardy ; Andrew Singleton	A consanguineous Turkish family with early-onset Parkinson's disease and an exon 4 parkin deletion.
000E83 (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.
000F34 (2004)	Paul J. Lockhart [États-Unis] ; Rebecca Bounds ; Mary Hulihan ; Jennifer Kachergus ; Sarah Lincoln ; Chin-Hsien Lin ; Ruey-Meei Wu ; Matthew J. Farrer	Lack of mutations in DJ-1 in a cohort of Taiwanese ethnic Chinese with early-onset parkinsonism.
000F60 (2004)	Sean O'Riordan [Irlande (pays)] ; Laurie J. Ozelius ; Patricia De Carvalho Aguiar ; Michael Hutchinson ; Mary King ; Tim Lynch	Inherited myoclonus-dystonia and epilepsy: further evidence of an association?
000F99 (2004)	Kathrin Grundmann [Allemagne] ; Ulrike Laubis-Herrmann ; Dirk Dressler ; Juliane Vollmer-Haase ; Peter Bauer ; Manfred Stuhrmann ; Thorsten Schulte ; Ludger Schöls ; Helge Topka ; Olaf Riess	Lack of mutations in the epsilon-sarcoglycan gene in patients with different subtypes of primary dystonias.
001031 (2004)	Marianna Capecci [Italie] ; Luca Passamonti ; Ferdinanda Annesi ; Grazia Annesi ; Michele Bellesi ; Innocenza Claudia Cir Candiano ; Riccardo Ricciuti ; Maurizio Iacoangeli ; Massimo Scerrati ; Mario Zappia ; Patrizia Tarantino ; Elvira Valeria De Marco ; Donatella Civitelli ; Sara Carrideo ; Leandro Provinciali ; Maria Gabriella Ceravolo ; Aldo Quattrone	Chronic bilateral subthalamic deep brain stimulation in a patient with homozygous deletion in the parkin gene.
001043 (2004)	Katja Hedrich [Allemagne] ; Cordula Eskelson ; Beth Wilmot ; Karen Marder ; Juliette Harris ; Jennifer Garrels ; Helen Meija-Santana ; Peter Vieregge ; Helfried Jacobs ; Susan B. Bressman ; Anthony E. Lang ; Martin Kann ; Giovanni Abbruzzese ; Paolo Martinelli ; Eberhard Schwinger ; Laurie J. Ozelius ; Peter P. Pramstaller ; Christine Klein ; Patricia Kramer	Distribution, type, and origin of Parkin mutations: review and case studies.

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