Mutation < Mutation (genetics) < Mutation (physiology)

Facettes :

List of bibliographic references

Number of relevant bibliographic references: 42.
[0-20] [0 - 20][0 - 42][20-40]

Ident.	Authors (with country if any)	Title
000025 (1999)	Z S Nasreddine [Canada] ; M. Loginov ; L N Clark ; J. Lamarche ; B L Miller ; A. Lamontagne ; V. Zhukareva ; V M Lee ; K C Wilhelmsen ; D H Geschwind	From genotype to phenotype: a clinical pathological, and biochemical investigation of frontotemporal dementia and parkinsonism (FTDP-17) caused by the P301L tau mutation.
000067 (1999)	A. Samii [Canada] ; K. Markopoulou ; Z K Wszolek ; V. Sossi ; T. Dobko ; E. Mak ; D B Calne ; A J Stoessl	PET studies of parkinsonism associated with mutation in the alpha-synuclein gene.
000693 (2006)	T. Gasser [Allemagne]	Molecular genetic findings in LRRK2 American, Canadian and German families.
000807 (2007)	Nicolas Dupré [Canada] ; Jean-Baptiste Rivière ; Richard H. Myers ; Pierre Provencher ; Emmanuelle Pourcher ; François Emond ; Guy A. Rouleau	LRRK2 is not a significant cause of Parkinson's disease in French-Canadians.
000808 (2007)	D A Grimes [Canada] ; L. Racacho ; F. Han ; M. Panisset ; D E Bulman	LRRK2 screening in a Canadian Parkinson's disease cohort.
000897 (2008)	E. Moro [Canada] ; J. Volkmann ; I R König ; S. Winkler ; A. Hiller ; S. Hassin-Baer ; J. Herzog ; A. Schnitzler ; K. Lohmann ; M O Pinsker ; J. Voges ; A. Djarmatic ; P. Seibler ; A M Lozano ; E. Rogaeva ; A E Lang ; G. Deuschl ; C. Klein	Bilateral subthalamic stimulation in Parkin and PINK1 parkinsonism.
000A29 (2009)	Edor Kabashi ; Hussein Daoud ; Jean-Baptiste Rivière ; Paul N. Valdmanis ; Paul N. Valdamanis ; Patrick Bourgouin ; Pierre Provencher ; Emmanuelle Pourcher ; Patrick Dion ; Nicolas Dupré ; Guy A. Rouleau	No TARDBP mutations in a French Canadian population of patients with Parkinson disease.
000B74 (2009)	Alex Rajput [Canada] ; Carles Vilari O-Güell ; Michele L. Rajput ; Owen A. Ross ; Alexandra I. Soto-Ortolaza ; Sarah J. Lincoln ; Stephanie A. Cobb ; Michael G. Heckman ; Matthew J. Farrer ; Ali Rajput	Alpha-synuclein polymorphisms are associated with Parkinson's disease in a Saskatchewan population.
000C22 (2010)	Christian Wider [États-Unis] ; Dennis W. Dickson ; Zbigniew K. Wszolek	Leucine-rich repeat kinase 2 gene-associated disease: redefining genotype-phenotype correlation.
000C61 (2010)	A Jon Stoessl	Parkin and Parkinson's disease: differentiated by non-dopaminergic dysfunction?
000D86 (2011)	Thomas M. Durcan [Canada] ; Edward A. Fon	Mutant ataxin-3 promotes the autophagic degradation of parkin.
000E31 (2011)	Guang Shi [Canada] ; Jeffrey R. Lee ; David A. Grimes ; Lemuel Racacho ; David Ye ; Howard Yang ; Owen A. Ross ; Matthew Farrer ; G Angus Mcquibban ; Dennis E. Bulman	Functional alteration of PARL contributes to mitochondrial dysregulation in Parkinson's disease.
000E59 (2011)	Caroline Fernandes [Canada] ; Yong Rao [Canada]	Genome-wide screen for modifiers of Parkinson's disease genes in Drosophila
000E77 (2011)	Mansoureh Hakimi [Canada] ; Thirumahal Selvanantham [Canada] ; Erika Swinton [Canada] ; Ruth F. Padmore [Canada] ; Youren Tong [États-Unis] ; Ghassan Kabbach [Canada] ; Katerina Venderova [Canada] ; Stephen E. Girardin [Canada] ; Dennis E. Bulman [Canada] ; Clemens R. Scherzer [États-Unis] ; Matthew J. Lavoie [États-Unis] ; Denis Gris [États-Unis] ; David S. Park [Canada] ; Jonathan B. Angel [Canada] ; Jie Shen [États-Unis] ; Dana J. Philpott [Canada] ; Michael G. Schlossmacher [Canada]	Parkinson’s disease-linked LRRK2 is expressed in circulating and tissue immune cells and upregulated following recognition of microbial structures
000F03 (2011)	Viduth K. Chaugule [Royaume-Uni] ; Lynn Burchell [Royaume-Uni] ; Kathryn R. Barber [Canada] ; Ateesh Sidhu [Royaume-Uni] ; Simon J. Leslie [Royaume-Uni] ; Gary S. Shaw [Canada] ; Helen Walden [Royaume-Uni]	Autoregulation of Parkin activity through its ubiquitin-like domain
000F13 (2011)	Christine Klein [Canada] ; Rosalind Chuang ; Connie Marras ; Anthony E. Lang	The curious case of phenocopies in families with genetic Parkinson's disease.
000F44 (2011)	Anne Noreau [Canada] ; Jean-Baptiste Rivière ; Sabrina Diab ; Patrick A. Dion ; Michel Panisset ; Valérie Soland ; Nicolas Jodoin ; Mélanie Langlois ; Sylvain Chouinard ; Nicolas Dupré ; Guy A. Rouleau	Glucocerebrosidase mutations in a French-Canadian Parkinson's disease cohort.
001210 (2012)	Y P Goldberg [Canada] ; S N Pimstone ; R. Namdari ; N. Price ; C. Cohen ; R P Sherrington ; M R Hayden	Human Mendelian pain disorders: a key to discovery and validation of novel analgesics.
001352 (2013)	Jessica L. Esseltine [Canada] ; Melinda D. Willard ; Isabella H. Wulur ; Mary E. Lajiness ; Thomas D. Barber ; Stephen S G. Ferguson	Somatic mutations in GRM1 in cancer alter metabotropic glutamate receptor 1 intracellular localization and signaling.
001395 (2013)	Silke Appel-Cresswell [Canada] ; Carles Vilarino-Guell ; Mary Encarnacion ; Holly Sherman ; Irene Yu ; Brinda Shah ; David Weir ; Christina Thompson ; Chelsea Szu-Tu ; Joanne Trinh ; Jan O. Aasly ; Alex Rajput ; Ali H. Rajput ; A. Jon Stoessl ; Matthew J. Farrer	Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease.
001429 (2013)	Michael A. Nalls ; Raquel Duran ; Grisel Lopez ; Marzena Kurzawa-Akanbi ; Ian G. Mckeith ; Patrick F. Chinnery ; Christopher M. Morris ; Jessie Theuns ; David Crosiers ; Patrick Cras ; Sebastiaan Engelborghs ; Peter Paul De Deyn ; Christine Van Broeckhoven ; David M. A. Mann ; Julie Snowden ; Stuart Pickering-Brown ; Nicola Halliwell ; Yvonne Davidson ; Linda Gibbons ; Jenny Harris ; Una-Marie Sheerin ; Jose Bras ; John Hardy ; Lorraine Clark ; Karen Marder ; Lawrence S. Honig ; Daniela Berg ; Walter Maetzler ; Kathrin Brockmann ; Thomas Gasser ; Fabiana Novellino ; Aldo Quattrone ; Grazia Annesi ; Elvira Valeria De Marco ; Ekaterina Rogaeva ; Mario Masellis ; Sandra E. Black ; Juan M. Bilbao ; Tatiana Foroud ; Bernardino Ghetti ; William C. Nichols ; Nathan Pankratz ; Glenda Halliday ; Suzanne Lesage ; Stephan Klebe ; Alexandra Durr ; Charles Duyckaerts ; Alexis Brice ; Benoit I. Giasson ; John Q. Trojanowski ; Howard I. Hurtig ; Nahid Tayebi ; Claudia Landazabal ; Melanie A. Knight ; Margaux Keller ; Andrew B. Singleton ; Tyra G. Wolfsberg ; Ellen Sidransky	A Multicenter Study of Glucocerebrosidase Mutations in Dementia With Lewy Bodies

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