DNA Damage < DNA Mutational Analysis < DNA Primers

Facettes :

List of bibliographic references

Number of relevant bibliographic references: 22.
[0-20] [0 - 20][0 - 22][20-21][20-40]

Ident.	Authors (with country if any)	Title
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.
000748 (2013)	Suzanne Lesage ; Mathieu Anheim ; Franck Letournel ; Luc Bousset ; Aurélie Honoré ; Nelly Rozas ; Laura Pieri ; Karine Madiona ; Alexandra Dürr ; Ronald Melki ; Christophe Verny ; Alexis Brice	G51D α-synuclein mutation causes a novel parkinsonian-pyramidal syndrome.
000836 (2012)	Suzanne Lesage ; Christel Condroyer ; Stephan Klebe ; Ebba Lohmann ; Franck Durif ; Philippe Damier ; François Tison ; Mathieu Anheim ; Aurélie Honoré ; François Viallet ; Anne-Marie Bonnet ; Anne-Marie Ouvrard-Hernandez ; Marie Vidailhet ; Alexandra Durr ; Alexis Brice	EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants?
000877 (2012)	S. Lesage ; C. Condroyer ; S. Klebe ; A. Honoré ; F. Tison ; C. Brefel-Courbon ; A. Dürr ; A. Brice	Identification of VPS35 mutations replicated in French families with Parkinson disease.
000947 (2011)	Marie-Christine Chartier-Harlin ; Justus C. Dachsel ; Carles Vilari O-Güell ; Sarah J. Lincoln ; Frédéric Leprêtre ; Mary M. Hulihan ; Jennifer Kachergus ; Austen J. Milnerwood ; Lucia Tapia ; Mee-Sook Song ; Emilie Le Rhun ; Eugénie Mutez ; Lydie Larvor ; Aurélie Duflot ; Christel Vanbesien-Mailliot ; Alexandre Kreisler ; Owen A. Ross ; Kenya Nishioka ; Alexandra I. Soto-Ortolaza ; Stephanie A. Cobb ; Heather L. Melrose ; Bahareh Behrouz ; Brett H. Keeling ; Justin A. Bacon ; Emna Hentati ; Lindsey Williams ; Akiko Yanagiya ; Nahum Sonenberg ; Paul J. Lockhart ; Abba C. Zubair ; Ryan J. Uitti ; Jan O. Aasly ; Anna Krygowska-Wajs ; Grzegorz Opala ; Zbigniew K. Wszolek ; Roberta Frigerio ; Demetrius M. Maraganore ; David Gosal ; Tim Lynch ; Michael Hutchinson ; Anna Rita Bentivoglio ; Enza Maria Valente ; William C. Nichols ; Nathan Pankratz ; Tatiana Foroud ; Rachel A. Gibson ; Faycal Hentati ; Dennis W. Dickson ; Alain Destée ; Matthew J. Farrer	Translation initiator EIF4G1 mutations in familial Parkinson disease.
000B72 (2009)	Alexander Zimprich ; Claudia Schulte ; Eva Reinthaler ; Dietrich Haubenberger ; Jörg Balzar ; Peter Lichtner ; Salwa El Tawil ; S. Edris ; Thomas Foki ; Walter Pirker ; Regina Katzenschlager ; Gerhard Daniel ; Thomas Brücke ; Eduard Auff ; Thomas Gasser	PARK11 gene (GIGYF2) variants Asn56Ser and Asn457Thr are not pathogenic for Parkinson's disease.
000B80 (2009)	Cécile Cazeneuve ; Channkanira Sân ; Salah A. Ibrahim ; Maowia M. Mukhtar ; Musa M. Kheir ; Eric Leguern ; Alexis Brice ; Mustafa A. Salih	A new complex homozygous large rearrangement of the PINK1 gene in a Sudanese family with early onset Parkinson's disease.
000B94 (2009)	Ebba Lohmann ; Laurence Leclere ; Francesca De Anna ; Suzanne Lesage ; Bruno Dubois ; Yves Agid ; Alexandra Dürr ; Alexis Brice	A clinical, neuropsychological and olfactory evaluation of a large family with LRRK2 mutations.
000C28 (2009)	E. Lohmann ; S. Thobois ; S. Lesage ; E. Broussolle ; S Tezenas Du Montcel ; M-J Ribeiro ; P. Remy ; A. Pelissolo ; B. Dubois ; L. Mallet ; P. Pollak ; Y. Agid ; A. Brice	A multidisciplinary study of patients with early-onset PD with and without parkin mutations.
000C30 (2009)	Pablo Ibá Ez ; Suzanne Lesage ; Sabine Janin ; Ebba Lohmann ; Frank Durif ; Alain Destée ; Anne-Marie Bonnet ; Christine Brefel-Courbon ; Simon Heath ; Diana Zelenika ; Yves Agid ; Alexandra Dürr ; Alexis Brice	Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms.
000D27 (2008)	S. Lesage ; E. Lohmann ; F. Tison ; F. Durif ; A. Dürr ; A. Brice	Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controls.
000E00 (2007)	Suzanne Lesage ; Sabine Janin ; Ebba Lohmann ; Anne-Louise Leutenegger ; Laurence Leclere ; François Viallet ; Pierre Pollak ; Franck Durif ; Stéphane Thobois ; Valérie Layet ; Marie Vidailhet ; Yves Agid ; Alexandra Dürr ; Alexis Brice ; Anne-Marie Bonnet ; Michel Borg ; Emmanuel Broussolle ; Philippe Damier ; Alain Destée ; Maria Martinez ; Christiane Penet ; Olivier Rasco ; François Tison ; Christine Tranchan ; Marc Vérin	LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans.
000E14 (2007)	Suzanne Lesage ; Periquet Magali ; Ebba Lohmann ; Lucette Lacomblez ; Helio Teive ; Sabine Janin ; Pierre-Yves Cousin ; Alexandra Dürr ; Alexis Brice	Deletion of the parkin and PACRG gene promoter in early-onset parkinsonism.
000E18 (2007)	Suzanne Lesage ; Laurence Leclere ; Ebba Lohmann ; Michel Borg ; Merle Ruberg ; Alexandra Dürr ; Alexis Brice	Frequency of the LRRK2 G2019S mutation in siblings with Parkinson's disease.
000E44 (2006)	Anne-Louise Leutenegger ; Mustafa A M. Salih ; Pablo Ibá Ez ; Maowia M. Mukhtar ; Suzanne Lesage ; Ali Arabi ; Ebba Lohmann ; Alexandra Dürr ; Ammar E M. Ahmed ; Alexis Brice	Juvenile-onset Parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1.
000E97 (2006)	Benoît Funalot ; William C. Nichols ; Jordi Pérez-Tur ; Géraldine Mercier ; Gérard Lucotte	Genetic screening for two LRRK2 mutations in French patients with idiopathic Parkinson's disease.
000F23 (2005)	Suzanne Lesage ; Pablo Ibanez ; Ebba Lohmann ; Pierre Pollak ; François Tison ; Myriem Tazir ; Anne-Louise Leutenegger ; Joao Guimaraes ; Anne-Marie Bonnet ; Yves Agid ; Alexandra Dürr ; Alexis Brice	G2019S LRRK2 mutation in French and North African families with Parkinson's disease.
001013 (2004)	P. Ibá Ez ; E. Lohmann ; P. Pollak ; F. Durif ; C. Tranchant ; Y. Agid ; A. Dürr ; A. Brice	Absence of NR4A2 exon 1 mutations in 108 families with autosomal dominant Parkinson disease.
001274 (2001)	C. Levecque ; A. Destée ; V. Mouroux ; E. Becquet ; L. Defebvre ; P. Amouyel ; M C Chartier-Harlin	No genetic association of the ubiquitin carboxy-terminal hydrolase-L1 gene S18Y polymorphism with familial Parkinson's disease.
001358 (1999)	S. Schraen-Maschke ; S. Brique ; M C Chartier-Harlin ; E. Brique ; A. Destée ; B. Sablonnière	Analysis of ERDA1, CTG18.1, and uncloned CAG/CTG repeat sequences in familial Parkinson's disease with anticipation.
001409 (1999)	S S Mirra ; J R Murrell ; M. Gearing ; M G Spillantini ; M. Goedert ; R A Crowther ; A I Levey ; R. Jones ; J. Green ; J M Shoffner ; B H Wainer ; M L Schmidt ; J Q Trojanowski ; B. Ghetti	Tau pathology in a family with dementia and a P301L mutation in tau.

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