A. Gabrielli, E. V. Avvedimento, T. Krieg, and . Scleroderma, N Engl J Med. 7 mai, vol.360, pp.1989-2003, 2009.

E. P. Stern and C. P. Denton, The Pathogenesis of Systemic Sclerosis, Rheum Dis Clin North Am. août, vol.41, issue.3, pp.367-82, 2015.

E. C. Leroy, C. Black, R. Fleischmajer, S. Jablonska, T. Krieg et al., Scleroderma (systemic sclerosis): classification, subsets and pathogenesis, J Rheumatol. févr, vol.15, issue.2, pp.202-207, 1988.

E. C. Leroy and T. A. Medsger, Criteria for the classification of early systemic sclerosis, J Rheumatol. juill, vol.28, issue.7, pp.1573-1579, 2001.

M. Kuwana, Circulating Anti-Nuclear Antibodies in Systemic Sclerosis: Utility in Diagnosis and Disease Subsetting, J Nippon Med Sch Nippon Ika Daigaku Zasshi, vol.84, issue.2, pp.56-63, 2017.

S. Mehra, J. Walker, K. Patterson, and M. J. Fritzler, Autoantibodies in systemic sclerosis, Autoimmun Rev. janv, vol.12, issue.3, pp.340-54, 2013.

S. I. Nihtyanova and C. P. Denton, Autoantibodies as predictive tools in systemic sclerosis, Nat Rev Rheumatol, vol.6, issue.2, pp.112-118, 2010.

V. D. Steen, Autoantibodies in systemic sclerosis, Semin Arthritis Rheum. août, vol.35, issue.1, pp.35-42, 2005.

C. Kayser and M. J. Fritzler, Autoantibodies in systemic sclerosis: unanswered questions, Front Immunol, vol.6, p.167, 2015.

K. T. Ho and J. D. Reveille, The clinical relevance of autoantibodies in scleroderma, Arthritis Res Ther, vol.5, issue.2, pp.80-93, 2003.

Y. Hamaguchi, Autoantibody profiles in systemic sclerosis: predictive value for clinical evaluation and prognosis, J Dermatol. janv, vol.37, issue.1, pp.42-53, 2010.

P. Schulz-knappe, H. Zucht, P. Budde, H. Göhler, D. Wirtz et al., High-Throughput Screening Discovers Multiple Novel Autoantibodies in Rheumatoid Arthritis, Systemic Lupus, Systemic Sclerosis and Sjogrens Syndrome (abstract), vol.68, 2016.

M. A. Schlager, H. T. Hoang, L. Urnavicius, S. L. Bullock, and A. P. Carter, In vitro reconstitution of a highly processive recombinant human dynein complex, EMBO J. 1 sept, vol.33, issue.17, pp.1855-68, 2014.

X. Huang and D. Fan, A novel mutation of BICD2 gene associated with juvenile amyotrophic lateral sclerosis, Amyotroph Lateral Scler Front Degener. 23 mars, pp.1-3, 2017.

E. C. Oates, A. M. Rossor, M. Hafezparast, M. Gonzalez, F. Speziani et al., Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia, Am J Hum Genet. 6 juin, vol.92, issue.6, pp.965-73, 2013.

J. Schulte-pelkum, P. Budde, H. Zucht, D. Wirtz, P. Schulzknappe et al., Validation of Novel Biomarker Candidates for Systemic Sclerosis (abstract), Arthritis Rheumatol, vol.67, issue.10, 2015.

J. Schulte-pelkum, D. Wirtz, P. Budde, H. Zucht, P. Schulzknappe et al., The Novel Anti-BICD2 Autoantibody Potentially Predicts a Favorable Disease Course in SSc (abtract), Arthritis Rheumatol, vol.68, issue.10

M. J. Fritzler, M. Hudson, M. Y. Choi, M. Mahler, M. Wang et al., Bicaudal D2 is a novel autoantibody target in systemic sclerosis that shares a key epitope with CENP-A but has a distinct clinical phenotype, Autoimmun Rev. 31 janv, 2018.

F. Den-hoogen, D. Khanna, J. Fransen, S. R. Johnson, M. Baron et al., 2013 classification criteria for systemic sclerosis: an American College of Rheumatology/European League against Rheumatism collaborative initiative, Arthritis Rheum, vol.65, issue.11, pp.2737-2784, 2013.

M. Hudson, M. Satoh, J. Chan, S. Tatibouet, S. Mehra et al., Prevalence and clinical profiles of « autoantibody-negative » systemic sclerosis subjects, Clin Exp Rheumatol. déc, vol.32, issue.6, 2014.

G. A. Salazar, S. Assassi, F. Wigley, L. Hummers, J. Varga et al., Antinuclear antibodynegative systemic sclerosis, Semin Arthritis Rheum. juin, vol.44, issue.6, pp.680-686, 2015.

C. C. Hoogenraad, A. Akhmanova, S. A. Howell, B. R. Dortland, D. Zeeuw et al., Mammalian Golgi-associated Bicaudal-D2 functions in the dynein-dynactin pathway by interacting with these complexes, EMBO J. 1 août, vol.20, issue.15, pp.4041-54, 2001.

M. J. Fritzler and M. Y. Choi, Editorial: Are Autoantibodies Involved in the Pathogenesis of Systemic Sclerosis?, Arthritis Rheumatol Hoboken NJ. sept, vol.68, issue.9, pp.2067-70, 2016.

A. Gabrielli, S. Svegliati, G. Moroncini, and E. V. Avvedimento, Pathogenic autoantibodies in systemic sclerosis, Curr Opin Immunol. déc, vol.19, issue.6, pp.640-645, 2007.

J. Senécal, J. Hénault, and Y. Raymond, The pathogenic role of autoantibodies to nuclear autoantigens in systemic sclerosis (scleroderma), J Rheumatol. sept, vol.32, issue.9, pp.1643-1652, 2005.

Y. Allanore, R. Simms, O. Distler, M. Trojanowska, J. Pope et al., Systemic sclerosis. Nat Rev Dis Primer, vol.23, p.15002, 2015.
URL : https://hal.archives-ouvertes.fr/hal-02134109

A. Gabrielli, E. V. Avvedimento, T. Krieg, and . Scleroderma, N Engl J Med. 7 mai, vol.360, pp.1989-2003, 2009.

H. Chifflot, B. Fautrel, C. Sordet, E. Chatelus, and J. Sibilia, Incidence and prevalence of systemic sclerosis: a systematic literature review, Semin Arthritis Rheum. févr, vol.37, issue.4, pp.223-258, 2008.

V. Le-guern, A. Mahr, L. Mouthon, D. Jeanneret, M. Carzon et al., Prevalence of systemic sclerosis in a French multi-ethnic county, Rheumatol Oxf Engl. sept, vol.43, issue.9, pp.1129-1166, 2004.

H. El-adssi, D. Cirstea, J. Virion, F. Guillemin, and J. De-korwin, Estimating the prevalence of systemic sclerosis in the Lorraine region, France, by the capture-recapture method, Semin Arthritis Rheum. avr, vol.42, issue.5, pp.530-538, 2013.
URL : https://hal.archives-ouvertes.fr/hal-01794577

J. Barnes and M. D. Mayes, Epidemiology of systemic sclerosis: incidence, prevalence, survival, risk factors, malignancy, and environmental triggers, Curr Opin Rheumatol. mars, vol.24, issue.2, pp.165-70, 2012.

M. Rubio-rivas, R. Moreno, and X. Corbella, Occupational and environmental scleroderma. Systematic review and meta-analysis, Clin Rheumatol. mars, vol.36, issue.3, pp.569-82, 2017.

T. R. Katsumoto, M. L. Whitfield, and M. K. Connolly, The pathogenesis of systemic sclerosis, Annu Rev Pathol, vol.6, pp.509-546, 2011.

F. C. Arnett, P. Gourh, S. Shete, C. W. Ahn, R. E. Honey et al., Major histocompatibility complex (MHC) class II alleles, haplotypes and epitopes which confer susceptibility or protection in systemic sclerosis: analyses in 1300 Caucasian, African-American and Hispanic cases and 1000 controls, Ann Rheum Dis. 12 juill, vol.69, issue.5, pp.822-829, 2010.

C. P. Denton, Advances in pathogenesis and treatment of systemic sclerosis, Clin Med Lond Engl. févr, vol.16, issue.1, pp.55-60, 2016.

E. P. Stern and C. P. Denton, The Pathogenesis of Systemic Sclerosis, Rheum Dis Clin North Am. août, vol.41, issue.3, pp.367-82, 2015.

J. Zochling, F. Newell, J. C. Charlesworth, P. Leo, J. Stankovich et al., An Immunochipbased interrogation of scleroderma susceptibility variants identifies a novel association at DNASE1L3, Arthritis Res Ther, vol.16, issue.5, 2014.

P. Gourh, F. C. Arnett, F. K. Tan, S. Assassi, D. Divecha et al., Association of TNFSF4 (OX40L) polymorphisms with susceptibility to systemic sclerosis, Ann Rheum Dis. 1 mars, vol.69, issue.3, pp.550-555, 2010.

B. Rueda, J. Broen, C. Simeon, R. Hesselstrand, B. Diaz et al., The STAT4 gene influences the genetic predisposition to systemic sclerosis phenotype, Hum Mol Genet. 1 juin, vol.18, issue.11, pp.2071-2078, 2009.

P. Dieudé, M. Guedj, J. Wipff, J. Avouac, I. Fajardy et al., Association between the IRF5 rs2004640 functional polymorphism and systemic sclerosis: A new perspective for pulmonary fibrosis, Arthritis Rheum. 1 janv, vol.60, issue.1, pp.225-258, 2009.

P. Dieudé, M. Guedj, J. Wipff, B. Ruiz, E. Hachulla et al., STAT4 is a genetic risk factor for systemic sclerosis having additive effects with IRF5 on disease susceptibility and related pulmonary fibrosis, Arthritis Rheum. 1 août, vol.60, issue.8, pp.2472-2481, 2009.

C. P. Denton and D. Khanna, Systemic sclerosis, Lancet Lond Engl, vol.390, pp.1685-99, 2017.
URL : https://hal.archives-ouvertes.fr/hal-02042780

A. Gabrielli, S. Svegliati, G. Moroncini, and E. V. Avvedimento, Pathogenic autoantibodies in systemic sclerosis, Curr Opin Immunol. déc, vol.19, issue.6, pp.640-645, 2007.

G. Stifano and R. B. Christmann, Macrophage Involvement in Systemic Sclerosis: Do We Need More Evidence?, Curr Rheumatol Rep. 1 janv, vol.18, issue.1, p.2, 2016.

J. Varga and D. Abraham, Systemic sclerosis: a prototypic multisystem fibrotic disorder, J Clin Invest. 1 mars, vol.117, issue.3, pp.557-67, 2007.

V. Leroy-colavolpe, Évaluation des troubles de la pigmentation dans la sclérodermie systémique : étude rétrospective d'une cohorte de 9 patients, vol.9

E. C. Leroy, C. Black, R. Fleischmajer, S. Jablonska, T. Krieg et al., Scleroderma (systemic sclerosis): classification, subsets and pathogenesis, J Rheumatol. févr, vol.15, issue.2, pp.202-207, 1988.

T. A. Medsger, Natural history of systemic sclerosis and the assessment of disease activity, severity, functional status, and psychologic well-being, Rheum Dis Clin North Am. mai, vol.29, issue.2, pp.255-73, 2003.

M. D. Mayes, J. V. Lacey, J. Beebe-dimmer, B. W. Gillespie, B. Cooper et al., Prevalence, incidence, survival, and disease characteristics of systemic sclerosis in a large US population, Arthritis Rheum. 1 août, vol.48, issue.8, pp.2246-55, 2003.

V. D. Steen and T. A. Medsger, Changes in causes of death in systemic sclerosis, Ann Rheum Dis. juill, vol.66, issue.7, pp.940-944, 1972.

M. Elhai, C. Meune, M. Boubaya, J. Avouac, E. Hachulla et al., Mapping and predicting mortality from systemic sclerosis, Ann Rheum Dis, vol.76, issue.11, pp.1897-905, 2017.

M. Elhai, C. Meune, J. Avouac, A. Kahan, and Y. Allanore, Trends in mortality in patients with systemic sclerosis over 40 years: a systematic review and meta-analysis of cohort studies, Rheumatol Oxf Engl. juin, vol.51, issue.6, pp.1017-1043, 2012.

, Subcommittee for scleroderma criteria of the American Rheumatism Association Diagnostic and Therapeutic Criteria Committee, Arthritis Rheum. mai, vol.23, issue.5, pp.581-90, 1980.

Y. Allanore, R. Simms, O. Distler, M. Trojanowska, J. Pope et al., Systemic sclerosis. Nat Rev Dis Primer, vol.23, p.15002, 2015.
URL : https://hal.archives-ouvertes.fr/hal-02134109

F. Van-den-hoogen, D. Khanna, J. Fransen, S. R. Johnson, M. Baron et al., 2013 classification criteria for systemic sclerosis: an American College of Rheumatology/European League against Rheumatism collaborative initiative, Arthritis Rheum, vol.65, issue.11, pp.2737-2784, 2013.

C. Leroy, E. Black, R. Fleischmajer, . Jablonska, &. Stefania et al., Scleroderma (Systemic Sclerosis): Classification, Subsets and Pathogenesis, The Journal of rheumatology, vol.15, pp.202-207, 1988.

E. C. Leroy and T. A. Medsger, Criteria for the classification of early systemic sclerosis, J Rheumatol. juill, vol.28, issue.7, pp.1573-1579, 2001.

J. Avouac, J. Fransen, U. A. Walker, V. Riccieri, V. Smith et al., Preliminary criteria for the very early diagnosis of systemic sclerosis: results of a Delphi Consensus Study from EULAR Scleroderma Trials and Research Group, Ann Rheum Dis. mars, vol.70, issue.3, pp.476-81, 2011.

H. Autorité-de-santé, Protocole National de Diagnostic et de Soins. PNDS 2017. Sclérodermie Systémique

C. Kayser and M. J. Fritzler, Autoantibodies in systemic sclerosis: unanswered questions, Front Immunol, vol.6, p.167, 2015.

E. Chan, J. Damoiseaux, O. G. Carballo, K. Conrad, W. De-melo-cruvinel et al., Report of the First International Consensus on Standardized Nomenclature of Antinuclear Antibody HEp-2 Cell Patterns, Front Immunol, vol.6, p.412, 2014.

S. Mehra, J. Walker, K. Patterson, and M. J. Fritzler, Autoantibodies in systemic sclerosis, Autoimmun Rev. janv, vol.12, issue.3, pp.340-54, 2013.

J. D. Reveille, M. Fischbach, T. Mcnearney, A. W. Friedman, M. B. Aguilar et al., Systemic sclerosis in 3 US ethnic groups: a comparison of clinical, sociodemographic, serologic, and immunogenetic determinants, Semin Arthritis Rheum. avr, vol.30, issue.5, pp.332-378, 2001.

V. Sobanski, L. Dauchet, G. Lefèvre, M. Lambert, S. Morell-dubois et al., Prevalence of anti-RNA polymerase III antibodies in systemic sclerosis: New data from a French cohort and a systematic review and meta-analysis, Arthritis Rheumatol Hoboken NJ. févr, vol.66, issue.2, pp.407-424, 2014.

M. Lazzaroni, I. Cavazzana, E. Colombo, R. Dobrota, J. Hernandez et al., Malignancies in Patients with Anti-RNA Polymerase III Antibodies and Systemic Sclerosis: Analysis of the EULAR Scleroderma Trials and Research Cohort and Possible Recommendations for Screening, J Rheumatol. 1 mai, vol.44, issue.5, pp.639-686, 2017.

E. Hachulla and S. Dubucquoi,

, Rev Med Interne. juin, vol.25, issue.6, pp.442-449, 2004.

M. Kuwana, Circulating Anti-Nuclear Antibodies in Systemic Sclerosis: Utility in Diagnosis and Disease Subsetting, J Nippon Med Sch Nippon Ika Daigaku Zasshi, vol.84, issue.2, pp.56-63, 2017.

K. T. Ho and J. D. Reveille, The clinical relevance of autoantibodies in scleroderma, Arthritis Res Ther, vol.5, issue.2, pp.80-93, 2003.

E. J. Cepeda and J. D. Reveille, Autoantibodies in systemic sclerosis and fibrosing syndromes: clinical indications and relevance, Curr Opin Rheumatol, vol.16, issue.6, pp.723-755, 2004.

Y. Hamaguchi, Autoantibody profiles in systemic sclerosis: predictive value for clinical evaluation and prognosis, J Dermatol. janv, vol.37, issue.1, pp.42-53, 2010.

S. I. Nihtyanova and C. P. Denton, Autoantibodies as predictive tools in systemic sclerosis, Nat Rev Rheumatol, vol.6, issue.2, pp.112-118, 2010.

S. Sato, Y. Hamaguchi, M. Hasegawa, and K. Takehara, Clinical significance of anti-topoisomerase ) antibody levels determined by ELISA in systemic sclerosis, Rheumatology, vol.40, issue.10, pp.1135-1175, 2001.

M. Radi?, M. Kaliterna, D. Ljuti?, and D. , The level of anti-topoisomerase I antibodies highly correlates with metacarpophalangeal and proximal interphalangeal joints flexion contractures in patients with systemic sclerosis, Clin Exp Rheumatol. août, vol.24, issue.4, pp.407-419, 2006.

H. Paul, Q. Fertig-noreen, M. Thomas, A. Wright-timothy, and M. , Correlation of serum anti-DNA topoisomerase I antibody levels with disease severity and activity in systemic sclerosis, Arthritis Rheum. 6 mai, vol.48, issue.5, pp.1363-73, 2003.

H. D. Tramposch, C. D. Smith, J. L. Senecal, and N. Rothfield, A long-term longitudinal study of anticentromere antibodies, Arthritis Rheum. févr, vol.27, issue.2, pp.121-125, 1984.

S. I. Nihtyanova, J. C. Parker, C. M. Black, C. C. Bunn, and C. P. Denton, A longitudinal study of anti-RNA polymerase III antibody levels in systemic sclerosis, Rheumatol Oxf Engl, vol.48, issue.10, pp.1218-1239, 2009.

K. Masataka, K. Junichi, M. Tsuneyo, K. Yutaka, and T. Takeshi, Longitudinal analysis of autoantibody response to topoisomerase I in systemic sclerosis, Arthritis Rheum. 2 avr, vol.43, issue.5, pp.1074-84, 2001.

P. Moinzadeh, C. Fonseca, M. Hellmich, A. A. Shah, C. Chighizola et al., Association of anti-RNA polymerase III autoantibodies and cancer in scleroderma, Arthritis Res Ther. 14 févr, vol.16, issue.1, p.53, 2014.

A. Shah-ami, W. Rosen-antony-;-ummers-laura, C. Fredrick, and . Livia, Close temporal relationship between onset of cancer and scleroderma in patients with RNA polymerase I/III antibodies, Arthritis Rheum. 6 mai, vol.62, issue.9, pp.2787-95, 2010.

C. G. Joseph, E. Darrah, A. A. Shah, A. D. Skora, L. A. Casciola-rosen et al., Association of the Autoimmune Disease Scleroderma with an Immunologic Response to, Cancer. Science. 10 janv, vol.343, issue.6167, pp.152-159, 2014.

A. A. Shah, G. Xu, A. Rosen, L. K. Hummers, F. M. Wigley et al.,

, Antibodies As a Marker of Cancer-Associated Scleroderma, Arthritis Rheumatol Hoboken NJ. juin, vol.69, issue.6, pp.1306-1318, 2017.

N. Fertig, R. T. Domsic, T. Rodriguez-reyna, M. Kuwana, M. Lucas et al., Anti-U11/U12 RNP antibodies in systemic sclerosis: a new serologic marker associated with pulmonary fibrosis, Arthritis Rheum. 15 juill, vol.61, issue.7, pp.958-65, 2009.

K. Kaji, N. Fertig, T. A. Medsger, T. Satoh, K. Hoshino et al., Autoantibodies to RuvBL1 and RuvBL2: a novel systemic sclerosis-related antibody associated with diffuse cutaneous and skeletal muscle involvement, Arthritis Care Res. avr, vol.66, issue.4, pp.575-84, 2014.

J. D'aoust, M. Tatibouet, S. Wick, J. , C. Scleroderma-research et al., Clinical and serologic correlates of anti-PM/Scl antibodies in systemic sclerosis: a multicenter study of 763 patients, Arthritis Rheumatol Hoboken NJ. juin, vol.66, issue.6, pp.1608-1623, 2014.

D. B. Ulanet, F. M. Wigley, A. C. Gelber, and A. Rosen, Autoantibodies against B23, a nucleolar phosphoprotein, occur in scleroderma and are associated with pulmonary hypertension, Arthritis Rheum. 15 févr, vol.49, issue.1, pp.85-92, 2003.

J. Senécal, J. Hénault, and Y. Raymond, The pathogenic role of autoantibodies to nuclear autoantigens in systemic sclerosis (scleroderma), J Rheumatol. sept, vol.32, issue.9, pp.1643-1652, 2005.

J. Hénault, M. Tremblay, I. Clément, Y. Raymond, and J. Senécal, Direct binding of anti-DNA topoisomerase I autoantibodies to the cell surface of fibroblasts in patients with systemic sclerosis, Arthritis Rheum, vol.50, issue.10, pp.3265-74, 2004.

J. Énault, R. Geneviève, S. Jean-luc, and R. Yves, DNA topoisomerase I binding to fibroblasts induces monocyte adhesion and activation in the presence of antitopoisomerase I autoantibodies from systemic sclerosis patients, Arthritis Rheum. 28 févr, vol.54, issue.3, pp.963-73, 2006.

M. Y. Choi and M. J. Fritzler, Progress in understanding the diagnostic and pathogenic role of autoantibodies associated with systemic sclerosis, Curr Opin Rheumatol, vol.28, issue.6, pp.586-94, 2016.

A. Kill and G. Riemekasten, Functional autoantibodies in systemic sclerosis pathogenesis, Curr Rheumatol Rep. mai, vol.17, issue.5, p.34, 2015.

J. Günther, J. Rademacher, J. M. Van-laar, E. Siegert, and G. Riemekasten, Functional autoantibodies in systemic sclerosis, Semin Immunopathol. sept, vol.37, issue.5, pp.529-571, 2015.

M. J. Fritzler and M. Y. Choi, Editorial: Are Autoantibodies Involved in the Pathogenesis of Systemic Sclerosis?, Arthritis Rheumatol Hoboken NJ. sept, vol.68, issue.9, pp.2067-70, 2016.

G. A. Salazar, S. Assassi, F. Wigley, L. Hummers, J. Varga et al., Antinuclear antibodynegative systemic sclerosis, Semin Arthritis Rheum. juin, vol.44, issue.6, pp.680-686, 2015.

M. Hudson, M. Satoh, J. Chan, S. Tatibouet, S. Mehra et al., Prevalence and clinical profiles of « autoantibody-negative » systemic sclerosis subjects, Clin Exp Rheumatol. déc, vol.32, issue.6, 2014.

C. C. Hoogenraad, P. Wulf, N. Schiefermeier, T. Stepanova, N. Galjart et al., Bicaudal D induces selective dynein-mediated microtubule minus end-directed transport, EMBO J, vol.22, issue.22, pp.6004-6019, 2003.

C. C. Hoogenraad, A. Akhmanova, S. A. Howell, B. R. Dortland, D. Zeeuw et al., Mammalian Golgi-associated Bicaudal-D2 functions in the dynein-dynactin pathway by interacting with these complexes, EMBO J. 1 août, vol.20, issue.15, pp.4041-54, 2001.

M. A. Schlager, H. T. Hoang, L. Urnavicius, S. L. Bullock, and A. P. Carter, In vitro reconstitution of a highly processive recombinant human dynein complex, EMBO J. 1 sept, vol.33, issue.17, pp.1855-68, 2014.

P. Souza, W. Pinto, L. U. Aivazoglou, F. N. Cardoso, A. Y. Aihara et al., Distal myopathy due to BICD2 mutations, Clin Neurol Neurosurg. févr, vol.165, pp.47-56, 2018.

K. Peeters, I. Litvinenko, B. Asselbergh, L. Almeida-souza, T. Chamova et al., Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomaldominant inheritance, Am J Hum Genet. 6 juin, vol.92, issue.6, pp.955-64, 2013.

E. C. Oates, A. M. Rossor, M. Hafezparast, M. Gonzalez, F. Speziani et al., Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia, Am J Hum Genet. 6 juin, vol.92, issue.6, pp.965-73, 2013.
DOI : 10.1016/j.ajhg.2013.04.018

URL : https://doi.org/10.1016/j.ajhg.2013.04.018

K. Neveling, L. A. Martinez-carrera, I. Hölker, A. Heister, A. Verrips et al., Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy, Am J Hum Genet. 6 juin, vol.92, issue.6, pp.946-54, 2013.

J. Lipka, M. Kuijpers, J. Jaworski, and C. C. Hoogenraad, Mutations in cytoplasmic dynein and its regulators cause malformations of cortical development and neurodegenerative diseases, Biochem Soc Trans. déc, vol.41, issue.6, pp.1605-1617, 2013.

P. Schulz-knappe, H. Zucht, P. Budde, H. Göhler, D. Wirtz et al., High-Throughput Screening Discovers Multiple Novel Autoantibodies in Rheumatoid Arthritis, Systemic Lupus, Systemic Sclerosis and Sjogrens Syndrome (abstract), vol.68, 2016.

J. Schulte-pelkum, P. Budde, H. Zucht, D. Wirtz, P. Schulzknappe et al., Validation of Novel Biomarker Candidates for Systemic Sclerosis (abstract), Arthritis Rheumatol, vol.67, issue.10, 2015.

J. Schulte-pelkum, D. Wirtz, P. Budde, H. Zucht, P. Schulzknappe et al., The Novel Anti-BICD2 Autoantibody Potentially Predicts a Favorable Disease Course in SSc (abtract), Arthritis Rheumatol, vol.68, issue.10

M. J. Fritzler, M. Hudson, M. Y. Choi, M. Mahler, M. Wang et al., Bicaudal D2 is a novel autoantibody target in systemic sclerosis that shares a key epitope with CENP-A but has a distinct clinical phenotype, Autoimmun Rev, vol.31, issue.2018