Idiopathic torsion dystonia linked to chromosome 8 in two mennonite families, Annals of Neurology, vol.33, issue.4, pp.670-673, 1997. ,
DOI : 10.1212/WNL.46.2.385
Structure, dynamics and functions of promyelocytic leukaemia nuclear bodies, Nature Reviews Molecular Cell Biology, vol.117, issue.12, pp.1006-1016, 2007. ,
DOI : 10.1083/jcb.146.1.113
UMD (Universal Mutation Database): A generic software to build and analyze locus-specific databases, Human Mutation, vol.3, issue.1, pp.86-94, 2000. ,
DOI : 10.1093/hmg/3.4.635
URL : https://hal.archives-ouvertes.fr/inserm-00143606
UMD (Universal Mutation Database): 2005 update, Human Mutation, vol.20, issue.3, pp.184-191, 2005. ,
DOI : 10.1002/humu.20210
URL : https://hal.archives-ouvertes.fr/inserm-00143605
Structure-Function Analysis of the THAP Zinc Finger of THAP1, a Large C2CH DNA-binding Module Linked to Rb/E2F Pathways, Journal of Biological Chemistry, vol.11, issue.7, pp.4352-4363, 2008. ,
DOI : 10.1016/0092-8674(89)90297-3
Dystonies monog??niques??: l???hypoth??se dopaminergique revisit??e, Revue Neurologique, vol.166, issue.4, pp.389-399, 2010. ,
DOI : 10.1016/j.neurol.2009.09.007
Singular DYT6 phenotypes in association with new THAP1 frameshift mutations, Movement Disorders, vol.26, issue.9, 2011. ,
DOI : 10.1002/mds.23641
URL : https://hal.archives-ouvertes.fr/inserm-00589949
Mutation screening of the DYT6/THAP1 gene in Italy, Mov Disord, vol.24, pp.2424-2427, 2009. ,
The pathophysiological basis of dystonias, Nature Reviews Neuroscience, vol.285, issue.3, pp.222-234, 2008. ,
DOI : 10.1016/S0894-1130(00)80022-8
Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study, The Lancet Neurology, vol.8, issue.5, pp.441-446, 2009. ,
DOI : 10.1016/S1474-4422(09)70081-X
Structural determinants of specific DNA-recognition by the THAP zinc finger, Nucleic Acids Research, vol.38, issue.10, pp.3466-3476, 2010. ,
DOI : 10.1093/nar/gkq053
Database and software for the analysis of mutations in the human p53 gene, Cancer Res, vol.54, pp.4454-4460, 1994. ,
Database and software for the analysis of mutations at the human p53 gene, Nucleic Acids Res, vol.22, pp.3549-3550, 1994. ,
The THAP-zinc finger protein THAP1 regulates endothelial cell proliferation through modulation of pRB/E2F cell-cycle target genes, Blood, vol.109, issue.2, pp.584-594, 2007. ,
DOI : 10.1182/blood-2006-03-012013
Clinical and genetic evaluation of DYT1 and DYT6 primary dystonia in China, European Journal of Neurology, vol.60, issue.3, pp.497-503, 2010. ,
DOI : 10.1001/archneur.60.9.1266
Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype, neurogenetics, vol.74, issue.1, pp.87-89, 2010. ,
DOI : 10.1212/WNL.0b013e3181d5276d
The THAP domain of THAP1 is a large C2CH module with zinc-dependent sequence-specific DNA-binding activity, Proceedings of the National Academy of Sciences, vol.285, issue.5428, pp.6907-6912, 2005. ,
DOI : 10.1126/science.285.5428.751
URL : https://hal.archives-ouvertes.fr/hal-00077523
Software and database for the analysis of mutations in the human FBN1 gene, Nucleic Acids Research, vol.24, issue.1, pp.137-140, 1996. ,
DOI : 10.1093/nar/24.1.137
URL : https://hal.archives-ouvertes.fr/inserm-00143165
Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion, Movement Disorders, vol.28, issue.16, pp.2854-2857, 2010. ,
DOI : 10.1212/WNL.54.9.1746
Do primary adult-onset focal dystonias share aetiological factors?, Brain, vol.130, issue.5, pp.1183-1193, 2007. ,
DOI : 10.1093/brain/awl355
URL : https://academic.oup.com/brain/article-pdf/130/5/1183/789968/awl355.pdf
Human Splicing Finder: an online bioinformatics tool to predict splicing signals, Nucleic Acids Research, vol.37, issue.9, p.67, 2009. ,
DOI : 10.1093/nar/gkp215
URL : https://hal.archives-ouvertes.fr/inserm-00396239
Cardiovascular manifestations in men and women carrying a FBN1 mutation, European Heart Journal, vol.31, issue.18, pp.2223-2229, 2010. ,
DOI : 10.1093/eurheartj/ehq258
URL : https://hal.archives-ouvertes.fr/hal-01669994
Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study, The Lancet Neurology, vol.8, issue.5, pp.447-452, 2009. ,
DOI : 10.1016/S1474-4422(09)70083-3
Prostate Apoptosis Response-4 Production in Synaptic Compartments Following Apoptotic and Excitotoxic Insults, Journal of Neurochemistry, vol.9, issue.1, pp.2312-2322, 1999. ,
DOI : 10.1016/S0955-0674(97)80069-5
Participation of prostate apoptosis response-4 in degeneration of dopaminergic neurons in models of Parkinson's disease, Annals of Neurology, vol.44, issue.4, pp.587-597, 1999. ,
DOI : 10.1002/ana.410440718
Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations, Human Mutation, vol.7, issue.6, pp.590-597, 2011. ,
DOI : 10.1186/1471-2105-7-166
Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24???32 mutation, European Journal of Human Genetics, vol.94, issue.4, pp.491-501, 2009. ,
DOI : 10.1101/gad.8.2.133
URL : https://hal.archives-ouvertes.fr/inserm-00343925
Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: Further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion, American Journal of Medical Genetics Part A, vol.38, issue.Supp 1, pp.854-860, 2009. ,
DOI : 10.1097/00125817-200009000-00002
URL : https://hal.archives-ouvertes.fr/inserm-00396232
Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands, Journal of Medical Genetics, vol.45, issue.6, pp.384-390, 2008. ,
DOI : 10.1136/jmg.2007.056382
URL : https://hal.archives-ouvertes.fr/inserm-00343946
Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International Study, The American Journal of Human Genetics, vol.81, issue.3, pp.454-466, 2007. ,
DOI : 10.1086/520125
URL : https://hal.archives-ouvertes.fr/inserm-00344134
Clinical and Molecular Study of 320 Children With Marfan Syndrome and Related Type I Fibrillinopathies in a Series of 1009 Probands With Pathogenic FBN1 Mutations, PEDIATRICS, vol.123, issue.1, pp.391-398, 2009. ,
DOI : 10.1542/peds.2008-0703
URL : https://hal.archives-ouvertes.fr/inserm-00396263
Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia, Nature Genetics, vol.55, issue.3, pp.286-288, 2009. ,
DOI : 10.1074/jbc.M707537200
Direct interaction between causative genes of DYT1 and DYT6 primary dystonia, Annals of Neurology, vol.285, issue.4, pp.549-553, 2010. ,
DOI : 10.1074/jbc.M109.072579
Novel death associated proteins, and THAP1 and PAR4 pathway in apoptosis control, 2010. ,
DYT6 dystonia: Mutation screening, phenotype, and response to deep brain stimulation, Movement Disorders, vol.355, issue.Part 3, pp.2420-2427, 2010. ,
DOI : 10.1212/WNL.35.1.73
Overexpression of human wildtype torsinA and human ??GAG torsinA in a transgenic mouse model causes phenotypic abnormalities, Neurobiology of Disease, vol.27, issue.2, pp.190-206, 2007. ,
DOI : 10.1016/j.nbd.2007.04.015
Par-4 is a mediator of neuronal degeneration associated with the pathogenesis of Alzheimer disease, Nature Medicine, vol.8, issue.8, pp.957-962, 1998. ,
DOI : 10.1016/S0166-2236(96)01030-2
The UMD TP53 database and website: update and revisions, Human Mutation, vol.96, issue.1, pp.14-20, 2006. ,
DOI : 10.1128/MCB.16.9.4961
URL : https://hal.archives-ouvertes.fr/hal-00018577
Amino acid substitution matrices from protein blocks., Proceedings of the National Academy of Sciences, vol.89, issue.22, pp.10915-10919, 1992. ,
DOI : 10.1073/pnas.89.22.10915
URL : http://www.pnas.org/content/89/22/10915.full.pdf
THAP1 mutations (DYT6) are an additional cause of early-onset dystonia, Neurology, vol.74, issue.10, pp.846-850, 2010. ,
DOI : 10.1212/WNL.0b013e3181d5276d
URL : https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2839194/pdf
DYT 6-A novel THAP1 mutation with excellent effect on pallidal DBS, Movement Disorders, vol.26, issue.5, pp.924-925, 2011. ,
DOI : 10.1002/mds.23599
The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6), Annals of Neurology, vol.42, issue.4, pp.554-559, 2010. ,
DOI : 10.1021/bi0349569
germ line mutations identified in melanoma-prone families or patients, Human Mutation, vol.299, issue.4, pp.564-574 ,
DOI : 10.1016/j.mrfmmm.2004.08.021
URL : https://hal.archives-ouvertes.fr/hal-00289948
mutational spectrum in a large cohort of patients, Human Mutation, vol.30, issue.2, pp.345-375, 2009. ,
DOI : 10.1002/humu.20910
Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment, Human Genetics, vol.86, issue.5, pp.425-441, 1991. ,
DOI : 10.1007/BF00194629
THAP1, un régulateur clé de la prolifération des cellules endothéliales: relations structure/fonction et g` enes cibles, 2007. ,
PML Nuclear Bodies, Cold Spring Harbor Perspectives in Biology, vol.2, issue.5, p.661, 2010. ,
DOI : 10.1101/cshperspect.a000661
URL : https://hal.archives-ouvertes.fr/hal-00102123
-GlcNAc Transferase, Journal of Biological Chemistry, vol.11, issue.18, pp.13364-13371, 2010. ,
DOI : 10.1016/j.cell.2008.05.047
SIFT: predicting amino acid changes that affect protein function, Nucleic Acids Research, vol.31, issue.13, pp.3812-3814, 2003. ,
DOI : 10.1093/nar/gkg509
URL : https://academic.oup.com/nar/article-pdf/31/13/3812/9487105/gkg509.pdf
A high-penetrance form of late-onset torsion dystonia maps to a novel locus (DYT21) on chromosome 2q14.3-q21.3, neurogenetics, vol.17, issue.11, pp.137-143, 2011. ,
DOI : 10.1093/hmg/ddn057
Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia, Movement Disorders, vol.41, issue.16, pp.2428-2429, 2009. ,
DOI : 10.1002/mds.22849
Par-4 Links Dopamine Signaling and Depression, Cell, vol.122, issue.2, pp.275-287, 2005. ,
DOI : 10.1016/j.cell.2005.05.031
URL : https://doi.org/10.1016/j.cell.2005.05.031
The prostate apoptosis response-4 protein participates in motor neuron degeneration in amyotrophic lateral sclerosis, FASEB J, vol.14, pp.913-924, 2000. ,
THAP1 is a nuclear proapoptotic factor that links prostate-apoptosis-response-4 (Par-4) to PML nuclear bodies, Oncogene, vol.22, issue.16, pp.2432-2442, 2003. ,
DOI : 10.1083/jcb.139.7.1621
Homozygous THAP1 mutations as cause of early-onset generalized dystonia, Movement Disorders, vol.48, issue.5, pp.858-861, 2011. ,
DOI : 10.1016/j.neuron.2005.11.010
Prevalence of THAP1 sequence variants in German patients with primary dystonia, Movement Disorders, vol.102, issue.Part 8, pp.1982-1986, 2010. ,
DOI : 10.1212/WNL.50.5_Suppl_5.S1
Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene, European Journal of Human Genetics, vol.4, issue.9, pp.1121-1128, 2009. ,
DOI : 10.1136/jmg.39.1.34
URL : https://hal.archives-ouvertes.fr/inserm-00396249
Advances in the genetics of primary torsion dystonia, F1000 Biology Reports, vol.2, p.41, 2010. ,
DOI : 10.3410/B2-41
Adult-onset leg dystonia due to a missense mutation in THAP1, Movement Disorders, vol.14, issue.9, pp.1306-1307, 2010. ,
DOI : 10.1002/mds.23086
Pathophysiology of dystonia, Current Opinion in Neurology, vol.22, issue.4, pp.406-413, 2009. ,
DOI : 10.1097/WCO.0b013e32832d9ef3
The UMD-LDLR database: additions to the software and 490 new entries to the database, Human Mutation, vol.39, issue.2, pp.81-87, 2002. ,
DOI : 10.1016/0092-8674(84)90188-0
in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein, Human Mutation, vol.85, issue.1, pp.35-47, 2002. ,
DOI : 10.1002/(SICI)1097-0215(20000315)85:6<877::AID-IJC23>3.0.CO;2-F
Novel THAP1 sequence variants in primary dystonia, Neurology, vol.74, issue.3, pp.229-238, 2010. ,
DOI : 10.1212/WNL.0b013e3181ca00ca
URL : https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2809032/pdf
Theoretical determination of amino acid substitution groups based on qualitative physicochemical properties, 2001. ,
Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families, Movement Disorders, vol.72, issue.8, pp.2405-2412, 2010. ,
DOI : 10.1212/01.WNL.0000133006.17909.32