S. Bressman, C. Sabatti, R. D. De-leon, D. Klein, C. Kramer et al., The DYT1 phenotype and guidelines for diagnostic testing, Neurology, vol.54, issue.9, pp.1746-1752, 2000.
DOI : 10.1212/WNL.54.9.1746

M. Gambarin, E. Valente, P. Liberini, G. Barrano, A. Bonizzato et al., Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia, Movement Disorders, vol.54, issue.10, pp.1782-1784, 2006.
DOI : 10.1212/WNL.54.9.1746

L. Ozelius, J. Hewett, C. Page, S. Bressman, P. Kramer et al., The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein, Nature Genetics, vol.2, issue.1, pp.40-48, 1997.
DOI : 10.1016/0888-7543(95)80109-Y

S. Tuffery-giraud, L. Cavalier, A. Roubertie, C. Guittard, S. Carles et al., No evidence of allelic heterogeneity in the DYT1 gene of European patients with early onset torsion dystonia, Journal of Medical Genetics, vol.38, issue.10, p.35, 2001.
DOI : 10.1136/jmg.38.10.e35

N. Fletcher, A. Harding, and C. Marsden, A GENETIC STUDY OF IDIOPATHIC TORSION DYSTONIA IN THE UNITED KINGDOM, Brain, vol.113, issue.2, pp.379-395, 1990.
DOI : 10.1093/brain/113.2.379

D. Pauls and A. Korczyn, Complex segregation analysis of dystonia pedigrees suggests autosomal dominant inheritance, Neurology, vol.40, issue.7, pp.1107-1110, 1990.
DOI : 10.1212/WNL.40.7.1107

N. Risch, S. Bressman, G. Senthil, and L. Ozelius, Intragenic Cis and Trans Modification of Genetic Susceptibility in DYT1 Torsion Dystonia, The American Journal of Human Genetics, vol.80, issue.6, pp.1188-1193, 2007.
DOI : 10.1086/518427

R. Burke, M. Brin, S. Fahn, S. Bressman, and C. Moskowitz, Analysis of the clinical course of non-Jewish, autosomal dominant torsion dystonia, Movement Disorders, vol.2, issue.3, pp.163-178, 1986.
DOI : 10.1212/WNL.20.11_Part_2.131

C. Marsden, Investigation of dystonia, Adv Neurol, vol.50, pp.35-44, 1988.

P. Opal, R. Tintner, J. Jankovic, J. Leung, X. Breakefield et al., Intrafamilial phenotypic variability of the DYT1 dystonia: From asymptomaticTOR1A gene carrier status to dystonic storm, Movement Disorders, vol.14, issue.2, pp.339-345, 2002.
DOI : 10.1002/1531-8257(199909)14:5<709::AID-MDS1001>3.0.CO;2-T

N. Risch, D. De-leon, L. Ozelius, P. Kramer, L. Almasy et al., Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population, Nature Genetics, vol.20, issue.2, pp.152-159, 1995.
DOI : 10.1006/geno.1993.1376

P. Kramer, G. Heiman, T. Gasser, L. Ozelius, D. De-leon et al., The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews, Am J Hum Genet, vol.55, pp.468-475, 1994.

A. Lebre, A. Durr, P. Jedynak, G. Ponsot, M. Vidailhet et al., DYT1 mutation in French families with idiopathic torsion dystonia, Brain, vol.122, issue.1, pp.41-45, 1999.
DOI : 10.1093/brain/122.1.41

URL : https://academic.oup.com/brain/article-pdf/122/1/41/17873350/1220041.pdf

J. Carmona, J. Burguera, B. Molla, F. Mulas, P. Smeyers et al., Unique origin and low penetrance of the 946delGAG mutation in Valencian DYT1 families, Clinical Genetics, vol.63, issue.2, pp.153-159, 2003.
DOI : 10.1212/WNL.40.7.1107

T. Ikeuchi, Y. Nomura, M. Segawa, L. Ozelius, T. Shimohata et al., Multiple founder effects in Japanese families with primary torsion dystonia harboring the GAG deletion in the TOR1A ( DYT1 ) gene, neurogenetics, vol.4, issue.2, pp.105-106, 2002.
DOI : 10.1007/s10048-002-0135-7

E. Valente, S. Povey, T. Warner, N. Wood, and M. Davis, Detailed haplotype analysis in Ashkenazi Jewish and non-Jewish British dystonic patients carrying the GAG deletion in the DYT1 gene: evidence for a limited number of founder mutations, Annals of Human Genetics, vol.63, issue.1, pp.1-8, 1999.
DOI : 10.1046/j.1469-1809.1999.6310001.x

D. Raymond and S. Bressman, Early-onset primary dystonia (DYT1), 2006.

M. Frederic, E. Lucarz, C. Monino, C. Saquet, D. Thorel et al., First determination of the incidence of the uniqueTOR1A gene mutation, c.907delGAG, in a Mediterranean population, Movement Disorders, vol.11, issue.6, pp.884-888, 2007.
DOI : 10.1212/WNL.40.7.1107

C. Kamm, Early onset torsion dystonia (Oppenheim's dystonia), Orphanet Journal of Rare Diseases, vol.1, issue.1, p.48, 2006.
DOI : 10.1186/1750-1172-1-48

L. Ozelius, J. Hewett, P. Kramer, S. Bressman, C. Shalish et al., ) on Human Chromosome 9q34: YAC Map and Linkage???Disequilibrium, Genome Research, vol.70, issue.5, pp.483-494, 1997.
DOI : 10.1038/359794a0

URL : http://genome.cshlp.org/content/7/5/483.full.pdf

T. Ikeuchi, T. Shimohata, R. Nakano, R. Koide, H. Takano et al., A case of primary torsion dystonia in Japan with the 3-bp (GAG) deletion in the DYT1 gene with a unique clinical presentation, neurogenetics, vol.2, issue.3, pp.189-190, 1999.
DOI : 10.1007/s100480050082

J. Im, T. Ahn, K. Kim, S. Ko, and J. Bs, DYT1 mutation in Korean primary dystonia patients, Parkinsonism & Related Disorders, vol.10, issue.7, pp.421-423, 2004.
DOI : 10.1016/j.parkreldis.2004.05.004

S. Matsumoto, M. Nishimura, R. Kaji, T. Sakamoto, T. Mezaki et al., DYT1 mutation in Japanese patients with primary torsion dystonia, Neuroreport, vol.12, issue.4, pp.793-795, 2001.
DOI : 10.1097/00001756-200103260-00035

Y. Nomura, T. Ikeuchi, S. Tsuji, and M. Segawa, Two phenotypes and anticipation observed in Japanese cases with early onset torsion dystonia (DYT1) ??? pathophysiological consideration, Brain and Development, vol.22, pp.92-101, 1922.
DOI : 10.1016/S0387-7604(00)00151-0

T. Warner, N. Fletcher, M. Davis, F. Ahmad, D. Conway et al., Linkage analysis in British and French families with idiopathic torsion dystonia, Brain, vol.116, issue.3, pp.739-744, 1993.
DOI : 10.1093/brain/116.3.739

D. Brassat, A. Camuzat, M. Vidailhet, I. Feki, P. Jedynak et al., Frequency of the DYT1 Mutation in Primary Torsion Dystonia Without Family History, Archives of Neurology, vol.57, issue.3, pp.333-335, 2000.
DOI : 10.1001/archneur.57.3.333

L. Hjermind, L. Werdelin, and S. Sorensen, Inherited and de novo mutations in sporadic cases of DYT1-dystonia, European Journal of Human Genetics, vol.54, issue.3, pp.213-216, 2002.
DOI : 10.1212/WNL.54.9.1746

C. Klein, M. Brin, D. De-leon, S. Limborska, I. Ivanova-smolenskaya et al., De Novo Mutations (GAG Deletion) in the DYT1 Gene in Two Non-Jewish Patients with Early-onset Dystonia, Human Molecular Genetics, vol.7, issue.7, pp.1133-1136, 1998.
DOI : 10.1093/hmg/7.7.1133