Molecular Biology < Molecular Chaperones < Molecular Diagnostic Techniques

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List of bibliographic references

Number of relevant bibliographic references: 56.
[0-20] [0 - 20][0 - 50][20-40]

Ident.	Authors (with country if any)	Title
000345 (2015)	Emil K. Gustavsson [Norvège] ; Joanne Trinh ; Ilaria Guella ; Carles Vilari O-Güell ; Silke Appel-Cresswell ; A Jon Stoessl ; Joseph K. Tsui ; Martin Mckeown ; Alex Rajput ; Ali H. Rajput ; Jan O. Aasly ; Matthew J. Farrer	DNAJC13 genetic variants in parkinsonism.
000397 (2014)	Marta Maltese [Italie] ; Giuseppina Martella ; Graziella Madeo ; Irene Fagiolo ; Annalisa Tassone ; Giulia Ponterio ; Giuseppe Sciamanna ; Pierre Burbaud ; P Jeffrey Conn ; Paola Bonsi ; Antonio Pisani	Anticholinergic drugs rescue synaptic plasticity in DYT1 dystonia: role of M1 muscarinic receptors.
000399 (2014)	Silke Appel-Cresswell [Canada] ; Ali H. Rajput ; Vesna Sossi ; Christina Thompson ; Vanessa Silva ; Jessamyn Mckenzie ; Katherine Dinelle ; Siobhan E. Mccormick ; Carles Vilari O-Güell ; A Jon Stoessl ; Dennis W. Dickson ; Chris A. Robinson ; Matthew J. Farrer ; Alex Rajput	Clinical, positron emission tomography, and pathological studies of DNAJC13 p.N855S Parkinsonism.
000493 (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.
000588 (2014)	Rachel Saunders-Pullman [États-Unis] ; Tania Fuchs ; Marta San Luciano ; Deborah Raymond ; Alison Brashear ; Robert Ortega ; Andres Deik ; Laurie J. Ozelius ; Susan B. Bressman	Heterogeneity in primary dystonia: lessons from THAP1, GNAL, and TOR1A in Amish-Mennonites.
000802 (2013)	Janneth Oleas [États-Unis] ; Fumiaki Yokoi ; Mark P. Deandrade ; Antonio Pisani ; Yuqing Li	Engineering animal models of dystonia.
000804 (2013)	Mark S. Ledoux [États-Unis] ; William T. Dauer ; Thomas T. Warner	Emerging common molecular pathways for primary dystonia.
000811 (2013)	Katja Lohmann [Allemagne] ; Christine Klein	Genetics of dystonia: what's known? What's new? What's next?
000A03 (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?
000A67 (2013)	Tyler Cheung [États-Unis] ; Cen Zhang ; Joseph Rudolph ; Ron L. Alterman ; Michele Tagliati	Sustained relief of generalized dystonia despite prolonged interruption of deep brain stimulation.
000C52 (2012)	María T. Cáceres-Redondo ; Fátima Carrillo ; Francisco J. Palomar ; Pablo Mir	DYT-1 gene dystonic tremor presenting as a "scan without evidence of dopaminergic deficit".
000E01 (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.
001418 (2011)	Valentina Garibotto [Italie] ; Luigi M. Romito ; Antonio E. Elia ; Paola Soliveri ; Andrea Panzacchi ; Assunta Carpinelli ; Michele Tinazzi ; Alberto Albanese ; Daniela Perani	In vivo evidence for GABA(A) receptor changes in the sensorimotor system in primary dystonia.
001432 (2011)	Thilo Herzfeld ; Rudolf Korinthenberg ; Ulrich Müller	D216H polymorphism within TOR1A does not affect penetrance in DRD and is not a general modifier in primary dystonia.
001526 (2010)	Patricia De Carvalho Aguiar [Brésil] ; Tania Fuchs ; Vanderci Borges ; Kay-Marie Lamar ; Sonia Maria Azevedo Silva ; Henrique Ballalai Ferraz ; Laurie Ozelius	Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion.
001686 (2010)	Nutan Sharma [États-Unis] ; Ramon A. Franco ; John K. Kuster ; Adele A. Mitchell ; Tania Fuchs ; Rachel Saunders-Pullman ; Deborah Raymond ; Mitchell F. Brin ; Andrew Blitzer ; Susan B. Bressman ; Laurie J. Ozelius	Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia.
001884 (2010)	Ying-Zu Huang [Taïwan] ; John C. Rothwell ; Chin-Song Lu ; Jiunjie Wang ; Rou-Shayn Chen	Restoration of motor inhibition through an abnormal premotor-motor connection in dystonia.
001885 (2010)	Jirí Klempír ; Olga Klempírová ; Jan Roth	Influence of emotional instability on behavioral disorders in DYT11.
001A38 (2010)	Laura Cif [France] ; Xavier Vasques ; Victoria Gonzalez ; Patrice Ravel ; Brigitte Biolsi ; Gwenaelle Collod-Beroud ; Sylvie Tuffery-Giraud ; Hassan Elfertit ; Mireille Claustres ; Philippe Coubes	Long-term follow-up of DYT1 dystonia patients treated by deep brain stimulation: an open-label study.
001B03 (2009)	Patric Blomstedt [Suède] ; Marwan I. Hariz ; Stephen Tisch ; Monica Holmberg ; Tommy A. Bergenheim ; Lars Forsgren	A family with a hereditary form of torsion dystonia from northern Sweden treated with bilateral pallidal deep brain stimulation.
001C31 (2009)	Mariachiara Sensi [Italie] ; Michele A. Cavallo ; Rocco Quatrale ; Silvio Sarubbo ; Sara Biguzzi ; Cristian Lettieri ; Jay G. Capone ; Valeria Tugnoli ; Maria Rosaria Tola ; Roberto Eleopra	Pallidal stimulation for segmental dystonia: long term follow up of 11 consecutive patients.

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