Mutation < Mutation (genetics) < Mutation (physiology)

Facettes :

List of bibliographic references

Number of relevant bibliographic references: 33.
[0-20] [0 - 20][0 - 33][20-32][20-40]

Ident.	Authors (with country if any)	Title
000078 (1999)	S. Schraen-Maschke [France] ; 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.
000111 (2000)	K. Ancolio [France] ; C. Alves Da Costa ; K. Uéda ; F. Checler	Alpha-synuclein and the Parkinson's disease-related mutant Ala53Thr-alpha-synuclein do not undergo proteasomal degradation in HEK293 and neuronal cells.
000215 (2001)	C. Levecque [France] ; 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.
000221 (????)	Jean Kanitakis [France] ; Alain Claudy	Clinical quiz. Rubinstein-Taybi syndrome (synonyms: broad thumbs and great toes, characteristic facies, and mental retardation -- broad thumb-hallux syndrome).
000297 (2002)	Y. Tsuboi [États-Unis] ; M. Baker ; M L Hutton ; R J Uitti ; O. Rascol ; M-B Delisle ; X. Soulages ; J R Murrell ; B. Ghetti ; M. Yasuda ; O. Komure ; S. Kuno ; K. Arima ; N. Sunohara ; T. Kobayashi ; Y. Mizuno ; Z K Wszolek	Clinical and genetic studies of families with the tau N279K mutation (FTDP-17).
000356 (2003)	Ebba Lohmann [France] ; Magali Periquet ; Vincenzo Bonifati ; Nick W. Wood ; Giuseppe De Michele ; Anne-Marie Bonnet ; Valérie Fraix ; Emmanuel Broussolle ; Martin W I M. Horstink ; Marie Vidailhet ; Patrice Verpillat ; Thomas Gasser ; David Nicholl ; Hélio Teive ; Salmo Raskin ; Olivier Rascol ; Alain Destée [France] ; Merle Ruberg ; Francesca Gasparini ; Giuseppe Meco ; Yves Agid [France] ; Alexandra Durr ; Alexis Brice	How much phenotypic variation can be attributed to parkin genotype?
000611 (2006)	Cornelia Hampe [France] ; Hector Ardila-Osorio ; Margot Fournier ; Alexis Brice ; Olga Corti	Biochemical analysis of Parkinson's disease-causing variants of Parkin, an E3 ubiquitin-protein ligase with monoubiquitylation capacity.
000784 (2008)	Pascal Guggenbuhl [France] ; Bernard Grosbois ; Gérard Chalès	Gaucher disease.
000891 (2009)	Ebba Lohmann [France] ; Laurence Leclere ; Francesca De Anna ; Suzanne Lesage ; Bruno Dubois ; Yves Agid [France] ; Alexandra Dürr ; Alexis Brice	A clinical, neuropsychological and olfactory evaluation of a large family with LRRK2 mutations.
000904 (2009)	N. Le Forestier [France] ; L. Lacomblez ; V. Meininger	[Parkinson disease and amyotrophic lateral sclerosis. Tauopathies, TDP-43 and SOD mutations].
000A00 (2010)	Magali Sallansonnet-Froment [France] ; Thierry De Greslan ; Xavier Roux ; Pierre Bounolleau ; Madani Ouologuem ; Hervé Taillia ; Damien Ricard ; Jean-Luc Renard	[Tremor/ataxia syndrome related to Fragile X premutation].
000A32 (2009)	Maria-João Ribeiro [France] ; Stéphane Thobois ; Ebba Lohmann ; Sophie Tezenas Du Montcel ; Suzanne Lesage ; Antoine Pelissolo ; Bruno Dubois ; Luc Mallet ; Pierre Pollak ; Yves Agid [France] ; Emmanuel Broussolle ; Alexis Brice ; Philippe Remy	A multitracer dopaminergic PET study of young-onset parkinsonian patients with and without parkin gene mutations.
000B11 (2011)	Eugénie Mutez [France] ; Lydie Larvor ; Frédéric Leprêtre ; Vincent Mouroux ; Dorota Hamalek ; Jean-Pierre Kerckaert ; Jordi Pérez-Tur ; Nawal Waucquier ; Christel Vanbesien-Mailliot ; Aurélie Duflot ; David Devos ; Luc Defebvre [France] ; Alexandre Kreisler ; Bernard Frigard ; Alain Destée [France] ; Marie-Christine Chartier-Harlin	Transcriptional profile of Parkinson blood mononuclear cells with LRRK2 mutation.
000B28 (2010)	Suzanne Lesage [France] ; Etienne Patin ; Christel Condroyer ; Anne-Louise Leutenegger ; Ebba Lohmann ; Nir Giladi ; Anat Bar-Shira ; Soraya Belarbi ; Nassima Hecham ; Pierre Pollak ; Anne-Marie Ouvrard-Hernandez ; Soraya Bardien ; Jonathan Carr ; Traki Benhassine ; Hiroyuki Tomiyama ; Caroline Pirkevi ; Tarik Hamadouche ; Cécile Cazeneuve ; A Nazli Basak ; Nobutaka Hattori ; Alexandra Dürr ; Meriem Tazir ; Avi Orr-Urtreger ; Lluis Quintana-Murci ; Alexis Brice	Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans.
000B49 (2009)	Olga Corti [France] ; Margot Fournier ; Alexis Brice	Neurodegeneration in Parkinson's disease: genetics enlightens physiopathology.
000D91 (2011)	Olga Corti [France] ; Suzanne Lesage ; Alexis Brice	What genetics tells us about the causes and mechanisms of Parkinson's disease.
000E28 (2012)	C. Alves Da Costa [France] ; F. Checler	Parkin: much more than a simple ubiquitin ligase.
000F10 (2012)	Suzanne Lesage [France] ; 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?
000F27 (2012)	Erwan Bezard [France] ; Zhenyu Yue [États-Unis] ; Deniz Kirik [Suède] ; Maria Grazia Spillantini [Royaume-Uni]	Animal Models of Parkinson’s Disease: limits and relevance to neuroprotection studies
001096 (2013)	Anne Roubergue [France] ; Emmanuel Roze ; Sandrine Vuillaumier-Barrot ; Marie-Joséphine Fontenille ; Aurélie Méneret ; Marie Vidailhet ; Bertrand Fontaine ; Diane Doummar ; Bertrand Philibert ; Florence Riant ; Sophie Nicole	The multiple faces of the ATP1A3-related dystonic movement disorder.
001100 (2013)	Michel Engeln [France] ; Stefania Fasano ; Serge H. Ahmed ; Martine Cador ; Veerle Baekelandt ; Erwan Bezard ; Pierre-Olivier Fernagut	Levodopa gains psychostimulant-like properties after nigral dopaminergic loss.

---

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/ParkinsonFranceV1/Data/Ncbi/Curation

HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/KwdEn.i -k "Mutation (genetics)" 

HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/KwdEn.i  \
                -Sk "Mutation (genetics)" \
         | HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd 

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Sante
   |area=    ParkinsonFranceV1
   |flux=    Ncbi
   |étape=   Curation
   |type=    indexItem
   |index=    KwdEn.i
   |clé=    Mutation (genetics)
}}

---

This area was generated with Dilib version V0.6.29. Data generation: Wed May 17 19:46:39 2017. Site generation: Mon Mar 4 15:48:15 2024