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001-es BibID:BIBFORM040271
Első szerző:Chinoy, Hector
Cím:Interaction of HLA-DRB1*03 and smoking for the development of anti-Jo-1 antibodies in adult idiopathic inflammatory myopathies : a European-wide case study / Chinoy H., Adimulam S., Marriage F., New P., Vincze M., Zilahi E., Kapitány A., Gyetvai A., Ekholm L., Novota P., Remakova M., Charles P., McHugh N. J., Padyukov L., Alfredsson L., Vencovsky J., Lundberg I. E., Danko K., Ollier W. E., Cooper R. G.
Dátum:2012
Megjegyzések:Objectives: HLA-DRB1*03 is strongly associated withanti-Jo-1-positive idiopathic infl ammatory myopathies (IIM)and there is now increasing evidence that Jo-1 antigen ispreferentially expressed in lung tissue. This study examinedwhether smoking was associated with the development ofanti-Jo-1 antibodies in HLA-DRB1*03-positive IIM.Methods IIM cases were selected with concurrentinformation regarding HLA-DRB1 status, smoking historyand anti-Jo-1 antibody status. DNA was genotypedat DRB1 using a commercial sequence-specifi coligonucleotide kit. Anti-Jo-1 antibody status wasestablished using a line blot assay or immunoprecipitation.Results 557 Caucasian IIM patients were recruited fromHungary (181), UK (99), Sweden (94) and Czech Republic(183). Smoking frequency was increased in anti-Jo-1-positive IIM cases, and reached statistical signifi cance inHungarian IIM (45% Jo-1-positive vs 17% Jo-1-negative,OR 3.94, 95% CI 1.53 to 9.89, p<0.0001). A strongassociation between HLA-DRB1*03 and anti-Jo-1status was observed across all four cohorts (DRB1*03frequency: 74% Jo-1-positive vs 35% Jo-1-negative, OR5.55, 95% CI 3.42 to 9.14, p<0.0001). The frequency ofHLA-DRB1*03 was increased in smokers. The frequencyof anti-Jo-1 was increased in DRB1*03-positive smokersvs DRB1*03-negative non-smokers (42% vs 8%, OR 7.75,95% CI 4.21 to 14.28, p<0.0001) and DRB1*03-positivenon-smokers (42% vs 31%, p=0.08). In DRB1*03-negative patients, anti-Jo-1 status between smokers andnon-smokers was not signifi cantly different. No signifi cantinteraction was noted between smoking and DRB1*03status using anti-Jo-1 as the outcome measure.Conclusion Smoking appears to be associated withan increased risk of possession of anti-Jo-1 in HLADRB1*03-positive IIM cases. The authors hypothesisethat an interaction between HLA-DRB1*03 and smokingmay prime the development of anti-Jo-1 antibodies.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
myopathy
Megjelenés:Annals of the Rheumatic Diseases 71 : 6 (2012), p. 961-965. -
További szerzők:Adimulam, S. Marriage, F. New, Paul Nagy-Vincze Melinda (1985-) (orvos) Zilahi Erika (1964-) (molekuláris biológus) Kapitány Anikó (1979-) (molekuláris biológus) Gyetvai Ágnes Ekholm, L. Novota, P. Remakova, M. Charles, Peter McHugh, Neil Padyukov, Leonid Alfredsson, Lars Vencovsky, Jiri Lundberg, Ingrid Dankó Katalin (1952-2021) (belgyógyász, allergológus és klinikai immunológus) Ollier, William E. Cooper, Robert G.
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2.

001-es BibID:BIBFORM077422
035-os BibID:(Cikkazonosító)e51 (WoS)000440169600005 (Scopus)85049024561
Első szerző:Lilleker, James B.
Cím:Response to: "Antisynthetase syndrome or what else? Different perspectives indicate the need for new classification criteria" by Cavagna et al / James B. Lilleker, Jiri Vencovsky, Guochun Wang, Lucy R. Wedderburn, Louise P. Diederichsen, Jens Schmidt, Paula Jordan, Olivier Benveniste, Maria Giovanna Danieli, Katalin Dankó, Nguyen Thi Phuong Thuy, Monica Vázquez-Del Mercado, Helena Andersson, Boel De Paepe, Jan L. De Bleecker, Britta Maurer, Liza J. McCann, Nicolo Pipitone, Neil McHugh, Zoe Betteridge, Paul New, Robert G. Cooper, William E. Ollier, Janine A. Lamb, Niels Steen Krogh, Ingrid E. Lundberg, Hector Chinoy, EuroMyositis contributors
Dátum:2017
ISSN:0003-4967
Tárgyszavak:Orvostudományok Klinikai orvostudományok hozzászólás
Megjelenés:Annals of The Rheumatic Diseases. - 77 : 8 (2017), p. 1. -
További szerzők:Vencovsky, Jiri Wang, Guochun Wedderburn, Lucy R. Diederichsen, Louise Pyndt Schmidt, Jens Jordan, Paula Benveniste, Olivier Danieli, Maria Giovanna Dankó Katalin (1952-2021) (belgyógyász, allergológus és klinikai immunológus) Nguyen, Thi Le Phuong Vazquez-Del Mercado, Monica Andersson, Helena De Paepe, Boel De Bleecker, Jan Maurer, Britta McCann, Liza J. Pipitone, Nicolo McHugh, Neil Betteridge, Zoe New, Paul Cooper, Robert G. Ollier, William E. Lamb, Janine A. Krogh, Niels Steen Lundberg, Ingrid Chinoy, Hector EuroMyositis contributors
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3.

001-es BibID:BIBFORM073211
035-os BibID:(WoS)000417778700010 (Scopus)85038218055
Első szerző:Lilleker, James B.
Cím:The EuroMyositis registry : an international collaborative tool to facilitate myositis research / James B. Lilleker, Jiri Vencovsky, Guochun Wang, Lucy R. Wedderburn, Louise Pyndt Diederichsen, Jens Schmidt, Paula Oakley, Olivier Benveniste, Maria Giovanna Danieli, Katalin Danko, Nguyen Thi Phuong Thuy, Monica Vazquez-Del Mercado, Helena Andersson, Boel De Paepe, Jan L. deBleecker, Britta Maurer, Liza J. McCann, Nicolo Pipitone, Neil McHugh, Zoe E. Betteridge, Paul New, Robert G. Cooper, William E. Ollier, Janine A. Lamb, Niels Steen Krogh, Ingrid E. Lundberg, Hector Chinoy, EuroMyositis contributors
Dátum:2018
ISSN:0003-4967
Megjegyzések:AIMS:The EuroMyositis Registry facilitates collaboration across the idiopathic inflammatory myopathy (IIM) research community. This inaugural report examines pooled Registry data.METHODS:Cross-sectional analysis of IIM cases from 11 countries was performed. Associations between clinical subtypes, extramuscular involvement, environmental exposures and medications were investigated.RESULTS:Of 3067 IIM cases, 69% were female. The most common IIM subtype was dermatomyositis (DM) (31%). Smoking was more frequent in connective tissue disease overlap cases (45%, OR 1.44, 95% CI 1.09 to 1.90, p=0.012). Smoking was associated with interstitial lung disease (ILD) (OR 1.32, 95% CI 1.06 to 1.65, p=0.013), dysphagia (OR 1.43, 95% CI 1.16 to 1.77, p=0.001), malignancy ever (OR 1.78, 95% CI 1.36 to 2.33, p<0.001) and cardiac involvement (OR 2.40, 95% CI 1.60 to 3.60, p<0.001).Dysphagia occurred in 39% and cardiac involvement in 9%; either occurrence was associated with higher Health Assessment Questionnaire (HAQ) scores (adjusted OR 1.79, 95% CI 1.43 to 2.23, p<0.001). HAQ scores were also higher in inclusion body myositis cases (adjusted OR 3.85, 95% CI 2.52 to 5.90, p<0.001). Malignancy (ever) occurred in 13%, most commonly in DM (20%, OR 2.06, 95% CI 1.65 to 2.57, p<0.001).ILD occurred in 30%, most frequently in antisynthetase syndrome (71%, OR 10.7, 95% CI 8.6 to 13.4, p<0.001). Rash characteristics differed between adult-onset and juvenile-onset DM cases ('V' sign: 56%?DM vs 16% juvenile-DM, OR 0.16, 95% CI 0.07 to 0.36, p<0.001). Glucocorticoids were used in 98% of cases, methotrexate in 71% and azathioprine in 51%.CONCLUSION:This large multicentre cohort demonstrates the importance of extramuscular involvement in patients with IIM, its association with smoking and its influence on disease severity. Our findings emphasise that IIM is a multisystem inflammatory disease and will help inform prognosis and clinical management of patients.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Disease registrieS
Myositis
Megjelenés:Annals Of The Rheumatic Diseases. - 77 : 1 (2018), p. 30-39. -
További szerzők:Vencovsky, Jiri Wang, Guochun Wedderburn, Lucy R. Diederichsen, Louise Pyndt Schmidt, Jens Oakley, Paula Benveniste, Olivier Danieli, Maria Giovanna Dankó Katalin (1952-2021) (belgyógyász, allergológus és klinikai immunológus) Thuy, Nguyen Thi Phuong Vazquez-Del Mercado, Monica Andersson, Helena De Paepe, Boel deBleecker, Jan L. Maurer, Britta McCann, Liza J. Pipitone, Nicolo McHugh, Neil Betteridge, Zoe New, Paul Cooper, Robert G. Ollier, William E. Lamb, Janine A. Krogh, Niels Steen Lundberg, Ingrid Chinoy, Hector EuroMyositis contributors
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4.

001-es BibID:BIBFORM073044
Első szerző:Miller, Frederick W.
Cím:Genome-wide Association Study Identifies HLA 8.1 Ancestral Haplotype Alleles as Major Genetic Risk Factors for Myositis Phenotypes / Frederick W. Miller, Wei Chen, Terrance P. O'Hanlon, Robert G. Cooper, Jiri Vencovsky, Lisa G. Rider, Katalin Danko, Lucy R. Wedderburn, Ingrid E. Lundberg, Lauren M. Pachman, Ann M. Reed, Steven R. Ytterberg, Leonid Padyukov, Albert SelvaO'Callaghan, Timothy R. Radstake, David A. Isenberg, Hector Chinoy, William E. R. Ollier, Paul Scheet, Bo Peng, Annette Lee, Jinyoung Byun, Janine A. Lamb, Peter K. Gregersen, Christopher I. Amos, the Myositis Genetics Consortium
Dátum:2015
ISSN:1466-4879 1476-5470
Megjegyzések:Autoimmune muscle diseases (myositis) comprise a group of complex phenotypes influenced by genetic and environmental factors. To identify genetic risk factors in patients of European ancestry, we conducted a genome-wide association study (GWAS) of the major myositis phenotypes in a total of 1710 cases, which included 705 adult dermatomyositis; 473 juvenile dermatomyositis; 532 polymyositis; and 202 adult dermatomyositis, juvenile dermatomyositis or polymyositis patients with anti-histidyl tRNA synthetase (anti-Jo-1) autoantibodies, and compared them with 4724 controls. Single-nucleotide polymorphisms showing strong associations (P < 5 ? 10?8) in GWAS were identified in the major histocompatibility complex (MHC) region for all myositis phenotypes together, as well as for the four clinical and autoantibody phenotypes studied separately. Imputation and regression analyses found that alleles comprising the human leukocyte antigen (HLA) 8.1 ancestral haplotype (AH8.1) defined essentially all the genetic risk in the phenotypes studied. Although the HLA DRB1*03:01 allele showed slightly stronger associations with adult and juvenile dermatomyositis, and HLA B*08:01 with polymyositis and anti-Jo-1 autoantibody-positive myositis, multiple alleles of AH8.1 were required for the full risk effects. Our findings establish that alleles of the AH8.1haplotype comprise the primary genetic risk factors associated with the major myositis phenotypes in geographically diverse Caucasian populations.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
polymyositis
dermatomyositis
adult
juvenile
anti-Jo-1 autoantibodies
HLA 8.1 ancestral haplotype
Megjelenés:Genes And Immunity 16 : 7 (2015), p. 470-480. -
További szerzők:Chen, Wei O'Hanlon, Terrance P. Cooper, Robert G. Vencovsky, Jiri Rider, Lisa G. Dankó Katalin (1952-2021) (belgyógyász, allergológus és klinikai immunológus) Wedderburn, Lucy R. Lundberg, Ingrid Pachman, Lauren M. Reed, Ann M. Ytterberg, Steven R. Padyukov, Leonid Selva-O'Callaghan, Albert Radstake, Timothy R. D. J. Isenberg, David A. Chinoy, Hector Ollier, William E. Scheet, Paul Peng, Bo Lee, Annette Byun, Jinyoung Lamb, Janine A. Gregersen, Peter K. Amos, Christopher I. the Myositis Genetics Consortium
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5.

001-es BibID:BIBFORM051365
Első szerző:Miller, Frederick W.
Cím:Genome-wide association study of dermatomyositis reveals genetic overlap with other autoimmune disorders / Frederick W. Miller, Robert G. Cooper, Jiří Vencovský, Lisa G. Rider, Katalin Danko, Lucy R. Wedderburn, Ingrid E. Lundberg, Lauren M. Pachman, Ann M. Reed, Steven R. Ytterberg, Leonid Padyukov, Albert Selva-O'Callaghan, Timothy R. D. J. Radstake, David A. Isenberg, Hector Chinoy, William E. R. Ollier, Terrance P. O'Hanlon, Bo Peng, Annette Lee, Janine A. Lamb, Wei Chen, Christopher I. Amos, Peter K. Gregersen, Myositis Genetics Consortium
Dátum:2013
ISSN:0004-3591
Megjegyzések:OBJECTIVE:To identify new genetic associations with juvenile and adult dermatomyositis (DM).METHODS:We performed a genome-wide association study (GWAS) of adult and juvenile DM patients of European ancestry (n = 1,178) and controls (n = 4,724). To assess genetic overlap with other autoimmune disorders, we examined whether 141 single-nucleotide polymorphisms (SNPs) outside the major histocompatibility complex (MHC) locus, and previously associated with autoimmune diseases, predispose to DM.RESULTS:Compared to controls, patients with DM had a strong signal in the MHC region consisting of GWAS-level significance (P < 5 ? 10(-8)) at 80 genotyped SNPs. An analysis of 141 non-MHC SNPs previously associated with autoimmune diseases showed that 3 SNPs linked with 3 genes were associated with DM, with a false discovery rate (FDR) of <0.05. These genes were phospholipase C-like 1 (PLCL1; rs6738825, FDR = 0.00089), B lymphoid tyrosine kinase (BLK; rs2736340, FDR = 0.0031), and chemokine (C-C motif) ligand 21 (CCL21; rs951005, FDR = 0.0076). None of these genes was previously reported to be associated with DM.CONCLUSION:Our findings confirm the MHC as the major genetic region associated with DM and indicate that DM shares non-MHC genetic features with other autoimmune diseases, suggesting the presence of additional novel risk loci. This first identification of autoimmune disease genetic predispositions shared with DM may lead to enhanced understanding of pathogenesis and novel diagnostic and therapeutic approaches.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:Arthritis and Rheumatism. - 65 : 12 (2013), p. 3239-3247. -
További szerzők:Cooper, Robert G. Vencovsky, Jiri Rider, Lisa G. Dankó Katalin (1952-2021) (belgyógyász, allergológus és klinikai immunológus) Wedderburn, Lucy R. Lundberg, Ingrid Pachman, Lauren M. Reed, Ann M. Ytterberg, Steven R. Padyukov, Leonid Selva-O'Callaghan, Albert Radstake, Timothy R. D. J. Isenberg, David A. Chinoy, Hector Ollier, William E. O'Hanlon, Terrance P. Peng, Bo Lee, Annette Lamb, Janine A. Chen, Wei Amos, Christopher I. Gregersen, Peter K. Myositis Genetics Consortium
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6.

001-es BibID:BIBFORM083544
035-os BibID:(WoS)000471138100032 (Scopus)85067232111
Első szerző:Rothwell, Simon
Cím:Focused HLA analysis in Caucasians with myositis identifies significant associations with autoantibody subgroups / Simon Rothwell, Hector Chinoy, Janine A. Lamb, Frederick W. Miller, Lisa G. Rider, Lucy R. Wedderburn, Neil J. McHugh, Andrew L. Mammen, Zoe E. Betteridge, Sarah L. Tansley, John Bowes, Jiří Vencovský, Claire T. Deakin, Katalin Dankó, Limaye Vidya, Albert Selva-O'Callaghan, Lauren M. Pachman, Ann M. Reed, Øyvind Molberg, Olivier Benveniste, Pernille R. Mathiesen, Timothy R. D. J. Radstake, Andrea Doria, Jan de Bleecker, Annette T. Lee, Michael G. Hanna, Pedro M. Machado, William E. Ollier, Peter K. Gregersen, Leonid Padyukov, Terrance P. O'Hanlon, Robert G. Cooper, Ingrid E. Lundberg, Myositis Genetics Consortium (MYOGEN)
Dátum:2019
ISSN:0003-4967
Megjegyzések:OBJECTIVES: Idiopathic inflammatory myopathies (IIM) are a spectrum of rare autoimmune diseases characterised clinically by muscle weakness and heterogeneous systemic organ involvement. The strongest genetic risk is within the major histocompatibility complex (MHC). Since autoantibody presence defines specific clinical subgroups of IIM, we aimed to correlate serotype and genotype, to identify novel risk variants in the MHC region that co-occur with IIM autoantibodies. METHODS: We collected available autoantibody data in our cohort of 2582 Caucasian patients with IIM. High resolution human leucocyte antigen (HLA) alleles and corresponding amino acid sequences were imputed using SNP2HLA from existing genotyping data and tested for association with 12 autoantibody subgroups. RESULTS: We report associations with eight autoantibodies reaching our study-wide significance level of p<2.9?10-5. Associations with the 8.1 ancestral haplotype were found with anti-Jo-1 (HLA-B*08:01, p=2.28?10-53?and HLA-DRB1*03:01, p=3.25?10-9), anti-PM/Scl (HLA-DQB1*02:01, p=1.47?10-26) and anti-cN1A autoantibodies (HLA-DRB1*03:01, p=1.40?10-11). Associations independent of this haplotype were found with anti-Mi-2 (HLA-DRB1*07:01, p=4.92?10-13) and anti-HMGCR autoantibodies (HLA-DRB1*11, p=5.09?10-6). Amino acid positions may be more strongly associated than classical HLA associations; for example with anti-Jo-1 autoantibodies and position 74 of HLA-DRB1 (p=3.47?10-64) and position 9 of HLA-B (p=7.03?10-11). We report novel genetic associations with HLA-DQB1 anti-TIF1 autoantibodies and identify haplotypes that may differ between adult-onset and juvenile-onset patients with these autoantibodies. CONCLUSIONS: These findings provide new insights regarding the functional consequences of genetic polymorphisms within the MHC. As autoantibodies in IIM correlate with specific clinical features of disease, understanding genetic risk underlying development of autoantibody profiles has implications for future research.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
HLA
autoantibody
genetics
idiopathic inflammatory myopathy
myositis
Megjelenés:Annals Of The Rheumatic Diseases. - 78 : 7 (2019), p. 996-1002. -
További szerzők:Chinoy, Hector Lamb, Janine A. Miller, Frederick W. Rider, Lisa G. Wedderburn, Lucy R. McHugh, Neil Mammen, Andrew Betteridge, Zoe Tansley, Sarah Bowes, John Vencovsky, Jiri Deakin, Claire T. Dankó Katalin (1952-2021) (belgyógyász, allergológus és klinikai immunológus) Vidya, Limaye Selva-O'Callaghan, Albert Pachman, Lauren M. Reed, Ann M. Molberg, Øyvind Benveniste, Olivier Mathiesen, Pernille R. Radstake, Timothy R. D. J. Doria, Andrea De Bleecker, Jan Lee, Annette Hanna, Michael G. Machado, Pedro M. Ollier, William E. Gregersen, Peter K. Padyukov, Leonid O'Hanlon, Terrance P. Cooper, Robert G. Lundberg, Ingrid Myositis Genetics Consortium (MYOGEN)
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7.

001-es BibID:BIBFORM073204
Első szerző:Rothwell, Simon
Cím:Immune-Array Analysis in Sporadic Inclusion Body Myositis Reveals HLA-DRB1 Amino Acid Heterogeneity Across the Myositis Spectrum / Simon Rothwell, Robert G. Cooper, Ingrid E. Lundberg, Peter K. Gregersen, Michael G. Hanna, Pedro M. Machado, Megan K. Herbert, Ger J. M. Pruijn, James B. Lilleker, Mark Roberts, John Bowes, Michael F. Seldin, Jiri Vencovsky, Katalin Danko, Vidya Limaye, Albert Selva-O'Callaghan, Hazel Platt, Øyvind Molberg, Olivier Benveniste, Timothy R. D. J. Radstake, Andrea Doria, Jan De Bleecker, Boel De Paepe, Christian Gieger, Thomas Meitinger, Juliane Winkelmann, Christopher I. Amos, William E. Ollier, Leonid Padyukov, Annette T. Lee, Janine A. Lamb, Hector Chinoy, Myositis Genetics Consortium
Dátum:2017
ISSN:2326-5191
Megjegyzések:OBJECTIVE:Inclusion body myositis (IBM) is characterized by a combination of inflammatory and degenerative changes affecting muscle. While the primary cause of IBM is unknown, genetic factors may influence disease susceptibility. To determine genetic factors contributing to the etiology of IBM, we conducted the largest genetic association study of the disease to date, investigating immune-related genes using the Immunochip.METHODS:A total of 252 Caucasian patients with IBM were recruited from 11 countries through the Myositis Genetics Consortium and compared with 1,008 ethnically matched controls. Classic HLA alleles and amino acids were imputed using SNP2HLA.RESULTS:The HLA region was confirmed as the most strongly associated region in IBM (P?=?3.58 ? 10-33 ). HLA imputation identified 3 independent associations (with HLA-DRB1*03:01, DRB1*01:01, and DRB1*13:01), although the strongest association was with amino acid positions 26 and 11 of the HLA-DRB1 molecule. No association with anti-cytosolic 5'-nucleotidase 1A-positive status was found independent of HLA-DRB1*03:01. There was no association of HLA genotypes with age at onset of IBM. Three non-HLA regions reached suggestive significance, including the chromosome 3 p21.31 region, an established risk locus for autoimmune disease, where a frameshift mutation in CCR5 is thought to be the causal variant.CONCLUSION:This is the largest, most comprehensive genetic association study to date in IBM. The data confirm that HLA is the most strongly associated region and identifies novel amino acid associations that may explain the risk in this locus. These amino acid associations differentiate IBM from polymyositis and dermatomyositis and may determine properties of the peptide-binding groove, allowing it to preferentially bind autoantigenic peptides. A novel suggestive association within the chromosome 3 p21.31 region suggests a role for CCR5
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:Arthritis & Rheumatology 69 : 5 (2017), p. 1090-1099. -
További szerzők:Cooper, Robert G. Lundberg, Ingrid Gregersen, Peter K. Hanna, Michael G. Machado, Pedro M. Herbert, Megan K. Pruijn, Ger J. M. Lilleker, James B. Roberts, Mark Bowes, John Seldin, Michael F. Vencovsky, Jiri Dankó Katalin (1952-2021) (belgyógyász, allergológus és klinikai immunológus) Limaye, Vidya Selva-O'Callaghan, Albert Platt, Hazel Molberg, Øyvind Benveniste, Olivier Radstake, Timothy R. D. J. Doria, Andrea De Bleecker, Jan De Paepe, Boel Gieger, Christian Meitinger, Thomas Winkelmann, Juliane Amos, Christopher I. Ollier, William E. Padyukov, Leonid Lee, Annette Lamb, Janine A. Chinoy, Hector Myositis Genetics Consortium
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