mutational < mutations < mutilation

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List of bibliographic references indexed by mutations

Number of relevant bibliographic references: 154.
[0-20] [0 - 20][0 - 50][20-40]

Ident.	Authors (with country if any)	Title
000081 (2015)	Teodora Chamova [Bulgarie] ; Dahlia Kancheva [Belgique] ; Velina Guergueltcheva [Bulgarie] ; Vanio Mitev [Bulgarie] ; Dimitar N. Azmanov [Australie] ; Luba Kalaydjieva [Australie] ; Albena Jordanova [Belgique] ; Ivailo Tournev [Bulgarie]	Reply: Mutations in TUBB4A and spastic paraplegia.
000085 (2015)	Michael Zech [Allemagne] ; Florian Castrop [Allemagne] ; Bernhard Haslinger [Allemagne] ; Juliane Winkelmann [Allemagne]	Reply to letter: Novel compound heterozygous mutations in PRKRA cause pure dystonia.
000093 (2015)	Friederike Sixel-Döring [Allemagne] ; Katja Lohmann ; Christine Klein ; Claudia Trenkwalder ; Brit Mollenhauer	REM sleep-associated motor behaviors in Parkinson's disease patients with heterozygous Parkin mutations.
000140 (2015)	Patricia De Carvalho Aguiar [Brésil] ; Vanderci Borges [Brésil] ; Henrique Ballalai Ferraz [Brésil] ; Laurie Jean Ozelius [États-Unis]	Novel compound heterozygous mutations in PRKRA cause pure dystonia.
000156 (2015)	Franziska Hopfner [Allemagne] ; Susanne A. Schneider [Allemagne]	Mystery surrounding DYT2 dystonia now solved: HPCA mutations identified in DYT2-like family.
000158 (2015)	Kishore Raj Kumar [Australie]	Mutations in hippocalcin and autosomal recessive dystonia: a role for perturbed calcium signaling?
000159 (2015)	Kishore R. Kumar [Australie] ; Franca Vulinovic [Allemagne] ; Katja Lohmann [Allemagne] ; Jin-Sung Park [Australie] ; Susen Schaake [Allemagne] ; Carolyn M. Sue [Australie] ; Christine Klein [Allemagne]	Mutations in TUBB4A and spastic paraplegia.
000160 (2015)	Franziska Hopfner [Allemagne] ; Stefanie H. Müller [Allemagne] ; Delia Lorenz [Allemagne] ; Silke Appenzeller [Allemagne] ; Stephan Klebe [Allemagne] ; Günther Deuschl [Allemagne] ; Gregor Kuhlenb Umer [Allemagne]	Mutations in HTRA2 are not a common cause of familial classic ET.
000161 (2015)	Claudia Dufke [Allemagne] ; Ann-Kathrin Hauser ; Marc Sturm ; Susanne Fluhr ; Tobias W Chter ; Barbara Leube ; Georg Auburger ; Thomas Ott ; Peter Bauer ; Thomas Gasser ; Kathrin Grundmann	Mutations in CIZ1 are not a major cause for dystonia in Germany.
000162 (2015)	Ling-Yan Ma [République populaire de Chine] ; Lin Wang ; Ying-Mai Yang ; Tao Feng ; Xin-Hua Wan	Mutations in ANO3 and GNAL gene in thirty-three isolated dystonia families.
000175 (2015)	Marialuisa Quadri [Pays-Bas] ; Mahesh Kamate [Inde] ; Suvasini Sharma [Inde] ; Simone Olgiati [Pays-Bas] ; Josja Graafland [Pays-Bas] ; Guido J. Breedveld [Pays-Bas] ; Indu Kori [Inde] ; Virupaxi Hattiholi [Inde] ; Puneet Jain [Inde] ; Satinder Aneja [Inde] ; Atin Kumar [Inde] ; Parveen Gulati [Inde] ; Medha Goel [Inde] ; Bibek Talukdar [Inde] ; Vincenzo Bonifati [Pays-Bas]	Manganese transport disorder: novel SLC30A10 mutations and early phenotypes.
000216 (2015)	Bettina Balint [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni]	Hot topic: Recessive mutations in the a3(VI) collagen gene COL6A3 cause early-onset isolated dystonia.
000220 (2015)	Roberto Erro [Royaume-Uni] ; Joshua Hersheson [Royaume-Uni] ; Christos Ganos [Royaume-Uni] ; Niccol E. Mencacci [Royaume-Uni] ; Maria Stamelou [Royaume-Uni] ; Amit Batla [Royaume-Uni] ; Stefanie Catherine Thust [Royaume-Uni] ; Jose M. Bras [Royaume-Uni] ; Rita J. Guerreiro [Royaume-Uni] ; John Hardy [Royaume-Uni] ; Niall P. Quinn [Royaume-Uni] ; Henry Houlden [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni]	H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?
000230 (2015)	Miryam Carecchio [Italie] ; Susanne A. Schneider [Allemagne]	GTP cyclohydrolase 1 mutations and Parkinson's disease: new insights beyond DOPA-responsive dystonia.
000261 (2015)	Brent L. Fogel [États-Unis] ; Sonya M. Hanson ; Esther B E. Becker	Do mutations in the murine ataxia gene TRPC3 cause cerebellar ataxia in humans?
000265 (2015)	Claustre Pont-Sunyer [Espagne] ; Susan Bressman [États-Unis] ; Deborah Raymond [États-Unis] ; Amanda Glickman [États-Unis] ; Eduardo Tolosa [Espagne] ; Rachel Saunders-Pullman [États-Unis]	Disclosure of research results in genetic studies of Parkinson's disease caused by LRRK2 mutations.
000277 (2015)	Zhong-Bin Zhang [République populaire de Chine] ; Mao-Qiang Tian [République populaire de Chine] ; Kai Gao [République populaire de Chine] ; Yu-Wu Jiang [République populaire de Chine] ; Ye Wu [République populaire de Chine]	De novo KCNMA1 mutations in children with early-onset paroxysmal dyskinesia and developmental delay.
000278 (2015)	Roberto Erro [Royaume-Uni] ; Christine Klein [Allemagne]	DYT2 Revealed: Hippocalcin Mutations Cause Autosomal-Recessive Isolated Dystonia.
000396 (2014)	Maria Stamelou [Royaume-Uni] ; Gavin Charlesworth [Royaume-Uni] ; Carla Cordivari [Royaume-Uni] ; Susanne A. Schneider [Royaume-Uni, Allemagne] ; Georg K Gi [Royaume-Uni, Suisse] ; Una-Marie Sheerin [Royaume-Uni] ; Ignacio Rubio-Agusti [Royaume-Uni] ; Amit Batla [Royaume-Uni] ; Henry Houlden [Royaume-Uni] ; Nicholas W. Wood [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni]	The Phenotypic Spectrum of DYT24 Due to ANO3 Mutations
000403 (2014)	Tetsutaro Ozawa [Japon]	The COQ2 mutations in Japanese multiple system atrophy: impact on the pathogenesis and phenotypic variation.
000421 (2014)	Claudia Dufke [Allemagne] ; Marc Sturm ; Christopher Schroeder ; Susanne Moll ; Thomas Ott ; Olaf Riess ; Peter Bauer ; Kathrin Grundmann	Screening of mutations in GNAL in sporadic dystonia patients.

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