mutant < mutation < mutational

Facettes :

List of bibliographic references indexed by mutation

Number of relevant bibliographic references: 194.
[0-20] [0 - 20][0 - 50][20-40]

Ident.	Authors (with country if any)	Title
000013 (2015)	Lucas Nürnberger [Allemagne] ; Christine Klein ; Simon Baudrexel ; Julia Roggendorf ; Marcel Hildner ; Shu Chen ; Jun-Suk Kang ; Rüdiger Hilker ; Johann Hagenah	Ultrasound-based motion analysis demonstrates bilateral arm hypokinesia during gait in heterozygous PINK1 mutation carriers.
000067 (2015)	Mickael Ehrminger [France] ; Smaranda Leu-Semenescu [France] ; Florence Cormier [France] ; Jean-Christophe Corvol [France] ; Marie Vidailhet [France] ; Eden Debellemaniere [France] ; Alexis Brice [France] ; Isabelle Arnulf [France]	Sleep aspects on video-polysomnography in LRRK2 mutation carriers.
000094 (2015)	Rachel Saunders-Pullman [États-Unis] ; Roy N. Alcalay [États-Unis] ; Anat Mirelman [Israël] ; Cuiling Wang [États-Unis] ; Marta San Luciano [États-Unis] ; Roberto A. Ortega [États-Unis] ; Amanda Glickman [États-Unis] ; Deborah Raymond [États-Unis] ; Helen Mejia-Santana [États-Unis] ; Nancy Doan [États-Unis] ; Brooke Johannes [États-Unis] ; Kira Yasinovsky [Israël] ; Laurie Ozelius [États-Unis] ; Lorraine Clark [États-Unis] ; Avi Orr-Utreger [Israël] ; Karen Marder [États-Unis] ; Nir Giladi [Israël] ; Susan B. Bressman [États-Unis]	REM sleep behavior disorder, as assessed by questionnaire, in G2019S LRRK2 mutation PD and carriers.
000144 (2015)	Anat Mirelman [Israël] ; Roy N. Alcalay [États-Unis] ; Rachel Saunders-Pullman [États-Unis] ; Kira Yasinovsky [Israël] ; Avner Thaler [Israël] ; Tanya Gurevich [Israël] ; Helen Mejia-Santana [États-Unis] ; Deborah Raymond [États-Unis] ; Mali Gana-Weisz [Israël] ; Anat Bar-Shira [Israël] ; Laurie Ozelius [États-Unis] ; Lorraine Clark [États-Unis] ; Avi Orr-Urtreger [Israël] ; Susan Bressman [États-Unis] ; Karen Marder [États-Unis] ; Nir Giladi [Israël]	Nonmotor symptoms in healthy Ashkenazi Jewish carriers of the G2019S mutation in the LRRK2 gene.
000167 (2015)	Dahlia Kancheva [Belgique] ; Teodora Chamova [Bulgarie] ; Velina Guergueltcheva [Bulgarie] ; Vanio Mitev [Bulgarie] ; Dimitar N. Azmanov [Australie] ; Luba Kalaydjieva [Australie] ; Ivailo Tournev [Bulgarie] ; Albena Jordanova [Belgique]	Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia.
000218 (2015)	Nadya Pyatigorskaya [France] ; Michael Sharman [France] ; Jean-Christophe Corvol [France] ; Romain Valabregue [France] ; Lydia Yahia-Cherif [France] ; Fabrice Poupon [France] ; Florence Cormier-Dequaire [France] ; Hartwig Siebner ; Stephan Klebe [France] ; Marie Vidailhet [France] ; Alexis Brice [France] ; Stephane Lehéricy [France]	High nigral iron deposition in LRRK2 and Parkin mutation carriers using R2* relaxometry.
000332 (2015)	Mika H. Martikainen [Royaume-Uni] ; Grainne S. Gorman [Royaume-Uni] ; Paul Goldsmith [Royaume-Uni] ; David J. Burn [Royaume-Uni] ; Doug M. Turnbull [Royaume-Uni] ; Andrew M. Schaefer [Royaume-Uni]	Adult-onset myoclonus ataxia associated with the mitochondrial m.8993T>C "NARP" mutation.
000350 (2015)	Ebba Lohmann [Turquie] ; Anne-Sophie Coquel [France] ; Aurélie Honoré [France] ; Hakan Gurvit [Turquie] ; Hasmet Hanagasi [Turquie] ; Murat Emre [Turquie] ; Anne L. Leutenegger [France] ; Valérie Drouet [France] ; Mourad Sahbatou [France] ; Gamze Guven [Turquie] ; Nihan Erginel-Unaltuna [Turquie] ; Jean-Francois Deleuze [France] ; Suzanne Lesage [France] ; Alexis Brice [France]	A new F-box protein 7 gene mutation causing typical Parkinson's disease.
000352 (2015)	Raphael Carapito [France] ; Nicodème Paul ; Meiggie Untrau ; Marion Le Gentil ; Louise Ott ; Ghada Alsaleh ; Pierre Jochem ; Mirjana Radosavljevic ; Cédric Le Caignec ; Albert David ; Philippe Damier ; Bertrand Isidor ; Seiamak Bahram	A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia.
000353 (2015)	Diane Doummar [France] ; Cyril Mignot [France] ; Emmanuelle Apartis [France] ; Laurent Villard [France] ; Diana Rodriguez [France] ; Sandra Chantot-Bastauraud [France] ; Lydie Burglen [France]	A Novel Homozygous TBC1D24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement.
000454 (2014)	Martje E. Van Egmond [Pays-Bas] ; Corien C. Verschuuren-Bemelmans ; Esther A. Nibbeling ; Jan Willem J. Elting ; Deborah A. Sival ; Oebele F. Brouwer ; Jeroen J. De Vries ; Hubertus P. Kremer ; Richard J. Sinke ; Marina A. Tijssen ; Tom J. De Koning	Ramsay Hunt syndrome: clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation.
000494 (2014)	Geetanjali S. Rathore [États-Unis] ; Christian P. Schaaf ; Amber J. Stocco	Novel mutation of the WDR45 gene causing beta-propeller protein-associated neurodegeneration.
000514 (2014)	Gilad Yahalom [Israël] ; Yael Orlev ; Oren S. Cohen ; Evgenia Kozlova ; Eitan Friedman ; Rivka Inzelberg ; Sharon Hassin-Baer	Motor progression of Parkinson's disease with the leucine-rich repeat kinase 2 G2019S mutation.
000536 (2014)	Roberta Allegra [Italie] ; Sara Tunesi ; Roberto Cilia ; Gianni Pezzoli ; Stefano Goldwurm	LRRK2-G2019S mutation is not associated with an increased cancer risk: a kin-cohort study.
000609 (2014)	Valerija Dobri I [Allemagne] ; Nikola Kresojevi ; Ana Westenberger ; Marina Svetel ; Aleksandra Tomi ; Vesna Rali ; Igor Petrovi ; Milica Je Menica Luki ; Katja Lohmann ; Ivana Novakovi ; Christine Klein ; Vladimir S. Kosti	De novo mutation in the GNAL gene causing seemingly sporadic dystonia in a Serbian patient.
000625 (2014)	Kishore R. Kumar [Australie] ; Christine Klein	Commentary for "Genetic Creutzfeldt-Jakob disease with R208H mutation presenting as progressive supranuclear palsy".
000627 (2014)	Fu-Bo Cheng [République populaire de Chine] ; Jia-Chun Feng ; Ling-Yan Ma ; Jing Miao ; Thomas Ott ; Xin-Hua Wan ; Kathrin Grundmann	Combined occurrence of a novel TOR1A and a THAP1 mutation in primary dystonia.
000657 (2014)	E. Mulroy [Irlande (pays)] ; A. Mccarthy [Irlande (pays)] ; D. Costello [Irlande (pays)] ; Oa Ross [États-Unis] ; T. Lynch [Irlande (pays)]	Asymmetrical leg atrophy in Dopa Responsive Dystonia due to a novel GTP cyclohydrolase mutation
000679 (2014)	Avner Thaler [Israël] ; Moran Artzi ; Anat Mirelman ; Yael Jacob ; Rick C. Helmich ; Bart F L. Van Nuenen ; Tanya Gurevich ; Avi Orr-Urtreger ; Karen Marder ; Susan Bressman ; Bastiaan R. Bloem ; Talma Hendler ; Nir Giladi ; Dafna Ben Bashat	A voxel-based morphometry and diffusion tensor imaging analysis of asymptomatic Parkinson's disease-related G2019S LRRK2 mutation carriers.
000684 (2014)	Eiichi Araki [Japon] ; Yoshio Tsuboi ; Justus Daechsel ; Austen Milnerwood ; Carles Vilarino-Guell ; Naoki Fujii ; Takayasu Mishima ; Takayuki Oka ; Hideo Hara ; Jiro Fukae ; Matthew J. Farrer	A novel DCTN1 mutation with late-onset parkinsonism and frontotemporal atrophy.
000686 (2014)	Claudia Perandones [Argentine] ; Luis Alejandro Pellene ; Federcio Micheli	A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure.

---

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Exploration

HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/Title.i -k "mutation" 

HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/Title.i  \
                -Sk "mutation" \
         | HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd 

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    Main
   |étape=   Exploration
   |type=    indexItem
   |index=    Title.i
   |clé=    mutation
}}

---

This area was generated with Dilib version V0.6.23. Data generation: Sun Jul 3 12:29:32 2016. Site generation: Wed Feb 14 10:52:30 2024