Mutant Proteins < Mutation < Mutation, Missense

Facettes :

List of bibliographic references

Number of relevant bibliographic references: 75.
[0-20] [0 - 20][0 - 50][20-40]

Ident.	Authors (with country if any)	Title
000177 (2016)	Mohammed Filali ; Robert Lalonde	Neurobehavioral Anomalies in the Pitx3/ak Murine Model of Parkinson's Disease and MPTP.
000194 (2016)	Massiva Sayad ; Mohamed Zouambia ; Malika Chaouch ; Farida Ferrat ; Mustapha Nebbal ; Mohamed Bendini ; Suzanne Lesage ; Alexis Brice ; Mohamed Brahim Errahmani ; Boualem Asselah	Greater improvement in LRRK2 G2019S patients undergoing Subthalamic Nucleus Deep Brain Stimulation compared to non-mutation carriers.
000244 (2015)	Celia Kun-Rodrigues ; Christos Ganos ; Rita Guerreiro ; Susanne A. Schneider ; Claudia Schulte ; Suzanne Lesage ; Lee Darwent ; Peter Holmans ; Andrew Singleton ; Kailash Bhatia ; Jose Bras	A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease.
000265 (2015)	Mickael Ehrminger ; Smaranda Leu-Semenescu ; Florence Cormier ; Jean-Christophe Corvol ; Marie Vidailhet ; Eden Debellemaniere ; Alexis Brice ; Isabelle Arnulf	Sleep aspects on video-polysomnography in LRRK2 mutation carriers.
000278 (2015)	G. Bertolin ; M. Jacoupy ; S. Traver ; R. Ferrando-Miguel ; T. Saint Georges ; K. Grenier ; H. Ardila-Osorio ; M-P Muriel ; H. Takahashi ; A J Lees ; C. Gautier ; D. Guedin ; F. Coge ; E A Fon ; A. Brice ; O. Corti	Parkin maintains mitochondrial levels of the protective Parkinson's disease-related enzyme 17-β hydroxysteroid dehydrogenase type 10.
000279 (2015)	Amulya Nidhi Shrivastava ; Virginie Redeker ; Nicolas Fritz ; Laura Pieri ; Leandro G. Almeida ; Maria Spolidoro ; Thomas Liebmann ; Luc Bousset ; Marianne Renner ; Clément Léna ; Anita Aperia ; Ronald Melki ; Antoine Triller	α-synuclein assemblies sequester neuronal α3-Na+/K+-ATPase and impair Na+ gradient.
000319 (2015)	Noah Nichols ; Jose M. Bras ; Dena G. Hernandez ; Iris E. Jansen ; Suzanne Lesage ; Steven Lubbe ; Andrew B. Singleton	EIF4G1 mutations do not cause Parkinson's disease.
000333 (2015)	Nadya Pyatigorskaya ; Michael Sharman ; Jean-Christophe Corvol ; Romain Valabregue ; Lydia Yahia-Cherif ; Fabrice Poupon ; Florence Cormier-Dequaire ; Hartwig Siebner ; Stephan Klebe ; Marie Vidailhet ; Alexis Brice ; Stephane Lehéricy	High nigral iron deposition in LRRK2 and Parkin mutation carriers using R2* relaxometry.
000334 (2015)	Ebba Lohmann ; Anne-Sophie Coquel ; Aurélie Honoré ; Hakan Gurvit ; Hasmet Hanagasi ; Murat Emre ; Anne L. Leutenegger ; Valérie Drouet ; Mourad Sahbatou ; Gamze Guven ; Nihan Erginel-Unaltuna ; Jean-Francois Deleuze ; Suzanne Lesage ; Alexis Brice	A new F-box protein 7 gene mutation causing typical Parkinson's disease.
000369 (2015)	Zoi Erpapazoglou ; Olga Corti	The endoplasmic reticulum/mitochondria interface: a subcellular platform for the orchestration of the functions of the PINK1-Parkin pathway?
000404 (2015)	Yolaine Ollivier ; Armelle Magot ; Philippe Latour ; Julie Perrier ; Sandra Mercier ; Thierry Maisonobe ; Yann Péréon	Clinical and electrophysiological features in a French family presenting with seipinopathy.
000439 (2015)	Lorraine V. Kalia ; Anthony E. Lang ; Lili-Naz Hazrati ; Shinsuke Fujioka ; Zbigniew K. Wszolek ; Dennis W. Dickson ; Owen A. Ross ; Vivianna M. Van Deerlin ; John Q. Trojanowski ; Howard I. Hurtig ; Roy N. Alcalay ; Karen S. Marder ; Lorraine N. Clark ; Carles Gaig ; Eduardo Tolosa ; Javier Ruiz-Martínez ; Jose F. Marti-Masso ; Isidre Ferrer ; Adolfo L Pez De Munain ; Samuel M. Goldman ; Birgitt Schüle ; J William Langston ; Jan O. Aasly ; Maria T. Giordana ; Vincenzo Bonifati ; Andreas Puschmann ; Margherita Canesi ; Gianni Pezzoli ; Andre Maues De Paula ; Kazuko Hasegawa ; Charles Duyckaerts ; Alexis Brice ; A Jon Stoessl ; Connie Marras	Clinical correlations with Lewy body pathology in LRRK2-related Parkinson disease.
000458 (2014)	Anna Bencsik ; Letizia Muselli ; Mikael Leboidre ; Latifa Lakhdar ; Thierry Baron	Early and persistent expression of phosphorylated α-synuclein in the enteric nervous system of A53T mutant human α-synuclein transgenic mice.
000477 (2014)	Cristina Alcacer ; Fanny Charbonnier-Beaupel ; Jean-Christophe Corvol ; Jean-Antoine Girault ; Denis Hervé	Mitogen- and stress-activated protein kinase 1 is required for specific signaling responses in dopamine-denervated mouse striatum, but is not necessary for L-DOPA-induced dyskinesia.
000497 (2014)	Mauricio G. Martín ; Frank Pfrieger ; Carlos G. Dotti	Cholesterol in brain disease: sometimes determinant and frequently implicated.
000501 (2014)	Mathieu Bourdenx ; Benjamin Dehay ; Erwan Bezard	Down-regulating α-synuclein for treating synucleopathies.
000511 (2014)	Lori Buhlman ; Maria Damiano ; Giulia Bertolin ; Rosa Ferrando-Miguel ; Anne Lombès ; Alexis Brice ; Olga Corti	Functional interplay between Parkin and Drp1 in mitochondrial fission and clearance.
000512 (2014)	Niccol E. Mencacci ; Ioannis U. Isaias ; Martin M. Reich ; Christos Ganos ; Vincent Plagnol ; James M. Polke ; Jose Bras ; Joshua Hersheson ; Maria Stamelou ; Alan M. Pittman ; Alastair J. Noyce ; Kin Y. Mok ; Thomas Opladen ; Erdmute Kunstmann ; Sybille Hodecker ; Alexander Münchau ; Jens Volkmann ; Samuel Samnick ; Katie Sidle ; Tina Nanji ; Mary G. Sweeney ; Henry Houlden ; Amit Batla ; Anna L. Zecchinelli ; Gianni Pezzoli ; Giorgio Marotta ; Andrew Lees ; Paulo Alegria ; Paul Krack ; Florence Cormier-Dequaire ; Suzanne Lesage ; Alexis Brice ; Peter Heutink ; Thomas Gasser ; Steven J. Lubbe ; Huw R. Morris ; Pille Taba ; Sulev Koks ; Elisa Majounie ; J. Raphael Gibbs ; Andrew Singleton ; John Hardy ; Stephan Klebe ; Kailash P. Bhatia ; Nicholas W. Wood	Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.
000563 (2014)	Luc Dupuis	Mitochondrial quality control in neurodegenerative diseases.
000569 (2014)	Erin L. Heinzen ; Alexis Arzimanoglou ; Allison Brashear ; Steven J. Clapcote ; Fiorella Gurrieri ; David B. Goldstein ; Sigur Ur H. J Hannesson ; Mohamad A. Mikati ; Brian Neville ; Sophie Nicole ; Laurie J. Ozelius ; Hanne Poulsen ; Tsveta Schyns ; Kathleen J. Sweadner ; Arn Van Den Maagdenberg ; Bente Vilsen	Distinct neurological disorders with ATP1A3 mutations.
000608 (2014)	Eugénie Mutez ; Aurore Nkiliza ; Karim Belarbi ; Amélie De Broucker ; Christel Vanbesien-Mailliot ; Séverine Bleuse ; Aurélie Duflot ; Thomas Comptdaer ; Pierre Semaille ; Renaud Blervaque ; David Hot ; Frederic Leprêtre ; Martin Figeac ; Alain Destée ; Marie-Christine Chartier-Harlin	Involvement of the immune system, endocytosis and EIF2 signaling in both genetically determined and sporadic forms of Parkinson's disease.

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