| Ident. | Authors (with country if any) | Title |
|---|
| 000696 (2010) |
Patricia De Carvalho Aguiar [Brésil] ; Tania Fuchs [États-Unis] ; Vanderci Borges [Brésil] ; Kay-Marie Lamar [États-Unis] ; Sonia Maria Azevedo Silva [Brésil] ; Henrique Ballalai Ferraz [Brésil] ; Laurie Ozelius [États-Unis] | Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion |
| 000C22 (2009) |
Mélissa Yana Frédéric [France] ; Fabienne Clot [France] ; Arnaud Blanchard [France] ; Claire-Marie Dhaenens [France] ; Gaëtan Lesca [France] ; Laura Cif [France] ; Alexandra Dürr [France] ; Marie Vidailhet [France] ; Bernard Sablonniere [France] ; Alain Calender [France] ; Maria Martinez [France] ; Nicolas Molinari [France] ; Alexis Brice [France] ; Mireille Claustres [France] ; Sylvie Tuffery-Giraud [France] ; Gwenaëlle Collod-Beroud [France] | The p.Asp216His TOR1A allele effect is not found in the French population |
| 000C64 (2009) |
Katja Ritz [Pays-Bas] ; Justus L. Groen [Pays-Bas] ; Jose J. M. Kruisdijk [Pays-Bas] ; Frank Baas [Pays-Bas] ; Johannes H. T. M. Koelman [Pays-Bas] ; Marina A. J. Tijssen [Pays-Bas] | Screening for dystonia genes DYT1, 11 and 16 in patients with writer's cramp |
| 001438 (2008) |
Mi J. Kim [Corée du Sud] ; Sang R. Jeon [Corée du Sud] ; Han-Wook Yoo [Corée du Sud] ; Gu-Hwan Kim [Corée du Sud] ; Myoung C. Lee [Corée du Sud] ; Sun J. Chung [Corée du Sud] | Effect of thalamotomy on focal hand dystonia in a family with DYT1 mutation |
| 001949 (2007) |
Mélissa Frédéric [France] ; Estelle Lucarz [France] ; Christine Monino [France] ; Céline Saquet [France] ; Delphine Thorel [France] ; Mireille Claustres [France] ; Tuffery-Giraud Sylvie [France] ; Collod-Béroud Gwenaelle [France] | First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a Mediterranean population |
| 001B22 (2007) |
Jordi Clarimon [États-Unis] ; Francesco Brancati [Italie] ; Elizabeth Peckham [États-Unis] ; Enza Maria Valente [Italie] ; Bruno Dallapiccola [Italie] ; Giovanni Abruzzese [Italie] ; Paolo Girlanda [Italie] ; Giovanni Defazio [Italie] ; Alfredo Berardelli [Italie] ; Mark Hallett [États-Unis] ; Andrew B. Singleton [États-Unis] | Assessing the role of DRD5 and DYT1 in two different case–control series with primary blepharospasm |
| 001D69 (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 |
| 002036 (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 |
| 002068 (2006) |
Mark J. Edwards [Royaume-Uni] ; Ying-Zu Huang [Royaume-Uni, Taïwan] ; Pablo Mir [Royaume-Uni, Espagne] ; John C. Rothwell [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni] | Abnormalities in motor cortical plasticity differentiate manifesting and nonmanifesting DYT1 carriers |
| 002242 (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 |
| 002600 (2004) |
Pascal Grosse [Royaume-Uni, Allemagne] ; M. Edwards [Royaume-Uni] ; M. A. J. Tijssen [Pays-Bas] ; A. Schrag [Royaume-Uni] ; Andrew Lees (neurologue) [Royaume-Uni] ; K. P. Bhatia [Royaume-Uni] ; Peter Brown [Royaume-Uni] | Patterns of EMG–EMG coherence in limb dystonia |
| 002611 (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 |
| 002612 (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 |
| 002C41 (2002) |
Anna Rita Bentivoglio [Italie] ; Mario Loi [Italie] ; Enza M. Valente [Italie] ; Tamara Ialongo [Italie] ; Pietro Tonali [Italie] ; Alberto Albanese [Italie] | Phenotypic variability of DYT1‐PTD: Does the clinical spectrum include psychogenic dystonia? |
| 002D15 (2002) |
Puneet Opal [États-Unis] ; Ron Tintner [États-Unis] ; Joseph Jankovic [États-Unis] ; Joanne Leung [États-Unis] ; Xandra O. Breakefield [États-Unis] ; Jennifer Friedman [États-Unis] ; Laurie Ozelius [États-Unis] | Intrafamilial phenotypic variability of the DYT1 dystonia: From asymptomatic TOR1A gene carrier status to dystonic storm |
| 003076 (2001) |
Silke Wunderlich [Allemagne] ; Karlheinz Reiners [Allemagne] ; Thomas Gasser [Allemagne] ; Markus Naumann [Allemagne] | Cervical dystonia in monozygotic twins: Case report and review of the literature |
| 003151 (2000) |
Christoph Kamm [Allemagne, États-Unis] ; Markus Naumann [Allemagne] ; Joerg Mueller [Autriche] ; Norbert Mai [Allemagne] ; Leonhard Riedel [Allemagne] ; Joerg Wissel [Autriche] ; Thomas Gasser [Allemagne] | The DYT1 GAG deletion is infrequent in sporadic and familial writer's cramp |
| 003490 (1999) |
Emanuele Cassetta [Italie] ; Nicoletta Del Grosso [Italie] ; Anna Rita Bentivoglio [Italie] ; Enza Maria Valente [Italie, Royaume-Uni] ; Marina Frontali [Italie] ; Alberto Albanese [Italie, Suisse] | Italian family with cranial cervical dystonia: Clinical and genetic study |
| 003506 (1999) |
Christoph Kamm [Allemagne] ; Elisabete Castelon-Konkiewitz [Allemagne] ; Markus Naumann [Allemagne] ; Florian Heinen ; Martina Brack ; Angela Nebe [Allemagne] ; Andres Ceballos-Baumann [Allemagne] ; Thomas Gasser [Allemagne] | GAG deletion in the DYT1 gene in early limb‐onset idiopathic torsion dystonia in Germany |
