Dystonia Musculorum Deformans (etiology) < Dystonia Musculorum Deformans (genetics) < Dystonia Musculorum Deformans (metabolism)

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List of bibliographic references indexed by Dystonia Musculorum Deformans (genetics)

Number of relevant bibliographic references: 36.
[0-20] [0 - 20][0 - 36][20-35][20-40]

Ident.	Authors (with country if any)	Title
000451 (2014)	Michael Zech [Allemagne] ; Nadine Gross ; Angela Jochim ; Florian Castrop ; Maria Kaffe ; Christian Dresel ; Peter Lichtner ; Annette Peters ; Christian Gieger ; Thomas Meitinger ; Bernhard Haslinger ; Juliane Winkelmann	Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls.
000950 (2013)	Justus L. Groen [Pays-Bas] ; Katja Ritz ; Michael W. Tanck ; Bart P. Van De Warrenburg ; Jacobus J. Van Hilten ; Majid Aramideh ; Frank Baas ; Marina A J. Tijssen	Is TOR1A a risk factor in adult-onset primary torsion dystonia?
000D30 (2012)	Vinko Palada ; Sandra Stiern ; Nicola Glöckle ; Pilar G Mez-Garre ; Fatima Carrillo ; Pablo Mir ; Krzysztof Szczaluba ; Michele Tinazzi ; Domenico Ajena ; Marta Romani ; Enza Maria Valente ; Ulrich Müller ; Peter Bauer ; Olaf Riess ; Thomas Ott ; Kathrin Grundmann	Lack of sequence variations in THAP1 gene and THAP1-binding sites in TOR1A promoter of DYT1 patients.
000E27 (2012)	Pia Winter [Allemagne] ; Christoph Kamm ; Saskia Biskup ; Angelika Köhler ; Barbara Leube ; Georg Auburger ; Thomas Gasser ; Rainer Benecke ; Ulrich Müller	DYT7 gene locus for cervical dystonia on chromosome 18p is questionable.
000E64 (2012)	Ryosuke Miyamoto ; Etsuro Ohta ; Toshitaka Kawarai ; Hidetaka Koizumi ; Wataru Sako ; Yuishin Izumi ; Fumiya Obata ; Ryuji Kaji	Broad spectrum of dystonia associated with a novel thanatosis-associated protein domain-containing apoptosis-associated protein 1 mutation in a Japanese family with dystonia 6, torsion.
001273 (2011)	Robert A. Wilcox [Australie] ; Susen Winkler [Allemagne] ; Katja Lohmann [Allemagne] ; Christine Klein [Allemagne]	Whispering dysphonia in an Australian family (DYT4): A clinical and genetic reappraisal
001381 (2011)	Arnaud Blanchard [France] ; Agathe Roubertie [France] ; Marion Simonetta-Moreau [France] ; Vuthy Ea [France] ; Coline Coquart [France] ; Melissa Y. Frederic [France] ; Gael Gallouedec [France] ; Jean-Paul Adenis [France] ; Isabelle Benatru [France] ; Michel Borg [France] ; Pierre Burbaud [France] ; Patrick Calvas [France] ; Laura Cif [France] ; Philippe Damier [France] ; Alain Destée [France] ; Laurence Faivre [France] ; Lucie Guyant-Marechal [France] ; Piotr Janik [Pologne] ; Samer Janoura [France] ; Alexandre Kreisler [France] ; Anna Lusakowska [Pologne] ; Sylvie Odent [France] ; Anna Potulska-Chromik [Pologne] ; Monika Rudzi Ska [Pologne] ; Stephane Thobois [France] ; Isabelle Vuillaume [France] ; Christine Tranchant [France] ; Sylvie Tuffery-Giraud [France] ; Philippe Coubes [France] ; Bernard Sablonnière [France] ; Mireille Claustres [France] ; Gwenaelle Collod-Béroud [France]	Singular DYT6 phenotypes in association with new THAP1 frameshift mutations
001517 (2011)	Christoph Kamm [Allemagne] ; Nils Uflacker [Allemagne] ; Friedrich Asmus [Allemagne] ; Christoph Schrader [Allemagne] ; Alexander Wolters [Allemagne] ; Matthias Wittstock [Allemagne] ; Jens Pahnke [Allemagne] ; Thomas Gasser [Allemagne] ; Jens Volkmann [Allemagne] ; Alexander Münchau [Allemagne] ; Johann Hagenah [Allemagne] ; Reiner Benecke [Allemagne] ; Christine Klein [Allemagne] ; Katja Lohmann [Allemagne]	No evidence for THAP1/DYT6 variants as disease modifiers in DYT1 dystonia
001D66 (2010)	Justus L. Groen [Pays-Bas] ; Katja Ritz [Pays-Bas] ; Maria Fiorella Contarino [Pays-Bas] ; Bart P. Van De Warrenburg [Pays-Bas] ; Majid Aramideh [Pays-Bas] ; Elisabeth M. Foncke [Pays-Bas] ; Jacobus J. Van Hilten [Pays-Bas] ; P. Richard Schuurman [Pays-Bas] ; Johannes D. Speelman [Pays-Bas] ; Johannes H. Koelman [Pays-Bas] ; Rob M. A. De Bie [Pays-Bas] ; Frank Baas [Pays-Bas] ; Marina A. Tijssen [Pays-Bas]	DYT6 dystonia: Mutation screening, phenotype, and response to deep brain stimulation
002197 (2009)	Monica Bonetti [Italie] ; Chiara Barzaghi [Italie] ; Francesco Brancati [Italie] ; Alessandro Ferraris [Italie] ; Emanuele Bellacchio [Italie] ; Alessandro Giovanetti [Italie] ; Tamara Ialongo [Italie] ; Giovanna Zorzi [Italie] ; Carla Piano [Italie] ; Martina Petracca [Italie] ; Alberto Albanese [Italie] ; Nardo Nardocci [Italie] ; Bruno Dallapiccola [Italie] ; Anna Rita Bentivoglio [Italie] ; Barbara Garavaglia [Italie] ; Enza Maria Valente [Italie]	Mutation screening of the DYT6/THAP1 gene in Italy
002482 (2009)	Patric Blomstedt [Suède] ; Marwan I. Hariz [Suède, Royaume-Uni] ; Stephen Tisch [Australie] ; Monica Holmberg [Suède] ; Tommy A. Bergenheim [Suède] ; Lars Forsgren [Suède]	A family with a hereditary form of torsion dystonia from Northern Sweden treated with bilateral pallidal deep brain stimulation
003045 (2007)	Elisabeth M. J. Foncke [Pays-Bas] ; Lo J. Bour [Pays-Bas] ; Johan N. Van Der Meer [Pays-Bas] ; Johannes H. T. M. Koelman [Pays-Bas] ; Marina A. J. Tijssen [Pays-Bas]	Abnormal low frequency drive in myoclonus‐dystonia patients correlates with presence of dystonia
003310 (2006)	Alfonso Fasano [Italie] ; Nardo Nardocci [Italie] ; Antonio Emanuele Elia [Italie] ; Giovanna Zorzi [Italie] ; Anna Rita Bentivoglio [Italie] ; Alberto Albanese [Italie]	Non‐DYT1 early‐onset primary torsion dystonia: Comparison with DYT1 phenotype and review of the literature
003472 (2006)	Kana Tojo [Japon] ; Yoshiki Sekijima [Japon] ; Tamio Suzuki [Japon] ; Noriyuki Suzuki [Japon] ; Yasushi Tomita [Japon] ; Kunihiro Yoshida [Japon] ; Takao Hashimoto [Japon] ; Shu-Ichi Ikeda [Japon]	Dystonia, mental deterioration, and dyschromatosis symmetrica hereditaria in a family with ADAR1 mutation
003545 (2006)	Theodora Gioltzoglou [Grèce] ; Ioannis Milonas [Grèce] ; Andrew Lees (neurologue) [Royaume-Uni]	Case of DYT1 dystonia triggered by bite from a moray
003575 (2006)	Mattia Gambarin [Italie] ; Enza Maria Valente [Italie] ; Paolo Liberini [Italie] ; Giuseppe Barrano [Italie] ; Alberto Bonizzato [Italie] ; Alessandro Padovani [Italie] ; Giuseppe Moretto [Italie] ; Mirta Fiorio [Italie] ; Bruno Dallapiccola [Italie] ; Nicola Smania [Italie] ; Antonio Fiaschi [Italie] ; Michele Tinazzi [Italie]	Atypical phenotypes and clinical variability in a large Italian family with DYT1–primary torsion dystonia
003705 (2005)	Roongroj Bhidayasiri [États-Unis, Thaïlande] ; Joanna C. Jen [États-Unis] ; Robert W. Baloh [États-Unis]	Three brothers with a very‐late‐onset writer's cramp
003835 (2005)	Anjum Misbahuddin [Royaume-Uni] ; Mark R. Placzek [Royaume-Uni] ; Jan-Willem Taanman [Royaume-Uni] ; Steve Gschmeissner [Royaume-Uni] ; Giampietro Schiavo [Royaume-Uni] ; J. Mark Cooper [Royaume-Uni] ; Thomas T. Warner [Royaume-Uni]	Mutant torsinA, which causes early‐onset primary torsion dystonia, is redistributed to membranous structures enriched in vesicular monoamine transporter in cultured human SH‐SY5Y cells
003C16 (2004)	Anna Rita Bentivoglio [Italie] ; Tamara Ialongo [Italie] ; M. Fiorella Contarino [Italie] ; Enza M. Valente [Italie] ; Alberto Albanese [Italie]	Phenotypic characterization of DYT13 primary torsion dystonia
003C30 (2004)	Alan L. Whone [Royaume-Uni] ; Sarah Von Spiczak [Royaume-Uni] ; Mark Edwards [Royaume-Uni] ; Enza-Maria Valente [Royaume-Uni] ; Alexander Hammers [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni] ; David J. Brooks [Royaume-Uni]	Opioid binding in DYT1 primary torsion dystonia: An 11C‐diprenorphine PET study
003C31 (2004)	Ying-Zu Huang [Royaume-Uni] ; Mark J. Edwards [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni] ; John C. Rothwell [Royaume-Uni]	One‐Hz repetitive transcranial magnetic stimulation of the premotor cortex alters reciprocal inhibition in DYT1 dystonia

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