Publications

Battie MC, Videman T, Kaprio J, Gibbons LE, et al. (2009). The twin spine study: contributions to a changing view of disc degeneration. Spine J. 9: 47-59. http://dx.doi.org/10.1016/j.spinee.2008.11.011 PMid:19111259 Boden SD, Davis DO, Dina TS, Patronas NJ, et al. (1990). Abnormal magnetic-resonance scans of the lumbar spine in asymptomatic subjects. A prospective investigation. J. Bone Joint Surg. Am. 72: 403-408. PMid:2312537 Doege KJ, Coulter SN, Meek LM, Maslen K, et al. (1997). A human-specific polymorphism in the coding region of the aggrecan gene. Variable number of tandem repeats produce a range of core protein sizes in the general population. J. Biol. Chem. 272: 13974-13979. http://dx.doi.org/10.1074/jbc.272.21.13974 PMid:9153261 Horton WE Jr, Lethbridge-Cejku M, Hochberg MC, Balakir R, et al. (1998). An association between an aggrecan polymorphic allele and bilateral hand osteoarthritis in elderly white men: data from the Baltimore Longitudinal Study of Aging (BLSA). Osteoarthritis Cartilage 6: 245-251. http://dx.doi.org/10.1053/joca.1998.0117 Kalichman L and Hunter DJ (2008). The genetics of intervertebral disc degeneration. Associated genes. Joint Bone Spine 75: 388-396. http://dx.doi.org/10.1016/j.jbspin.2007.11.002 PMid:18485784 Kämäräinen OP, Solovieva S, Vehmas T, Luoma K, et al. (2006). Aggrecan core protein of a certain length is protective against hand osteoarthritis. Osteoarthritis Cartilage 14: 1075-1080. http://dx.doi.org/10.1016/j.joca.2006.04.005 PMid:16713721 Kawaguchi Y, Osada R, Kanamori M, Ishihara H, et al. (1999). Association between an aggrecan gene polymorphism and lumbar disc degeneration. Spine 24: 2456-2460. http://dx.doi.org/10.1097/00007632-199912010-00006 PMid:10626307 Kelsey JL, Githens PB, O’Conner T, Weil U, et al. (1984). Acute prolapsed lumbar intervertebral disc. An epidemiologic study with special reference to driving automobiles and cigarette smoking. Spine 9: 608-613. http://dx.doi.org/10.1097/00007632-198409000-00012 PMid:6495031 Kirk KM, Doege KJ, Hecht J, Bellamy N, et al. (2003). Osteoarthritis of the hands, hips and knees in an Australian twin sample - evidence of association with the aggrecan VNTR polymorphism. Twin Res. 6: 62-66. http://dx.doi.org/10.1375/136905203762687915 PMid:12626230 Kujala UM, Taimela S, Viljanen T, Jutila H, et al. (1996). Physical loading and performance as predictors of back pain in healthy adults. A 5-year prospective study. Eur. J. Appl. Physiol. Occup. Physiol. 73: 452-458. http://dx.doi.org/10.1007/BF00334423 PMid:8803506 Luoma K, Riihimaki H, Luukkonen R, Raininko R, et al. (2000). Low back pain in relation to lumbar disc degeneration. Spine 25: 487-492. http://dx.doi.org/10.1097/00007632-200002150-00016 PMid:10707396 Maniadakis N and Gray A (2000). The economic burden of back pain in the UK. Pain 84: 95-103. http://dx.doi.org/10.1016/S0304-3959(99)00187-6 Matsui H, Tsuji H and Terahata N (1990). Juvenile lumbar herniated nucleus pulposus in monozygotic twins. Spine 15: 1228-1230. http://dx.doi.org/10.1097/00007632-199011010-00025 PMid:2267621 Matsui H, Terahata N, Tsuji H, Hirano N, et al. (1992). Familial predisposition and clustering for juvenile lumbar disc herniation. Spine 17: 1323-1328. http://dx.doi.org/10.1097/00007632-199211000-00011 PMid:1462208 Matsui H, Kanamori M, Ishihara H, Yudoh K, et al. (1998). Familial predisposition for lumbar degenerative disc disease. A case-control study. Spine 23: 1029-1034. http://dx.doi.org/10.1097/00007632-199805010-00013 PMid:9589542 Noponen-Hietala N, Kyllonen E, Mannikko M, Ilkko E, et al. (2003). Sequence variations in the collagen IX and XI genes are associated with degenerative lumbar spinal stenosis. Ann. Rheum Dis. 62: 1208-1214. http://dx.doi.org/10.1136/ard.2003.008334 PMid:14644861    PMCid:1754404 Pope MH and Hansson TH (1992). Vibration of the spine and low back pain. Clin. Orthop. Relat. Res. 27: 49-59. Richardson JK, Chung T, Schultz JS and Hurvitz E (1997). A familial predisposition toward lumbar disc injury. Spine 22: 1487-1492. http://dx.doi.org/10.1097/00007632-199707010-00012 PMid:9231968 Roughley PJ, Alini M and Antoniou J (2002). The role of proteoglycans in aging, degeneration and repair of the intervertebral disc. Biochem. Soc. Trans. 30: 869-874. http://dx.doi.org/10.1042/BST0300869 Roughley P, Martens D, Rantakokko J, Alini M, et al. (2006). The involvement of aggrecan polymorphism in degeneration of human intervertebral disc and articular cartilage. Eur. Cell Mater. 11: 1-7. PMid:16425147 Schneiderman G, Flannigan B, Kingston S, Thomas J, et al. (1987). Magnetic resonance imaging in the diagnosis of disc degeneration: correlation with discography. Spine 12: 276-281. http://dx.doi.org/10.1097/00007632-198704000-00016 PMid:2954224 Simmons ED Jr, Guntupalli M, Kowalski JM, Braun F, et al. (1996). Familial predisposition for degenerative disc disease. A case-control study. Spine 21: 1527-1529. http://dx.doi.org/10.1097/00007632-199607010-00007 PMid:8817779 Solovieva S, Noponen N, Mannikko M, Leino-Arjas P, et al. (2007). Association between the aggrecan gene variable number of tandem repeats polymorphism and intervertebral disc degeneration. Spine 32: 1700-1705. http://dx.doi.org/10.1097/BRS.0b013e3180b9ed51 PMid:17632389 Videman T, Saarela J, Kaprio J, Nakki A, et al. (2009). Associations of 25 structural, degradative, and inflammatory candidate genes with lumbar disc desiccation, bulging, and height narrowing. Arthritis Rheum. 60: 470-481. http://dx.doi.org/10.1002/art.24268 Watanabe H, Yamada Y and Kimata K (1998). Roles of aggrecan, a large chondroitin sulfate proteoglycan, in cartilage structure and function. J. Biochem. 124: 687-693. PMid:9756610 Wiesel SW, Weinstein JN, Herkowitz H et al. (1996). The Lumbar Spine. 2nd edn. WB Saunders Press, Philadelphia. Zamani MH and MacEwen GD (1982). Herniation of the lumbar disc in children and adolescents. J. Pediatr. Orthop. 2: 528-533. http://dx.doi.org/10.1097/01241398-198212000-00012 PMid:6219127

Anonymous (1991). Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. MRC Vitamin Study Research Group. Lancet 338: 131-137. http://dx.doi.org/10.1016/0140-6736(91)90133-A   Aydinli K, Cajdas A, Kayserili H, Kuseyri F, et al. (1998). The effect of preconceptional folic acid treatment on the recurrence risk of nonsyndromic neural tube defects. Balk J. Med. Genet. 1: 120-124.   Boduroglu K, Alikasifoglu M, Anar B and Tuncbilek E (1999). Association of the 677C→T mutation on the methylenetetrahydrofolate reductase gene in Turkish patients with neural tube defects. J. Child Neurol. 14: 159-161. http://dx.doi.org/10.1177/088307389901400305 PMid:10190266   Christensen B, Arbour L, Tran P, Leclerc D, et al. (1999). Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects. Am. J. Med. Genet. 84: 151-157. http://dx.doi.org/10.1002/(SICI)1096-8628(19990521)84:2<151::AID-AJMG12>3.0.CO;2-T   Cunha AL, Hirata MH, Kim CA, Guerra-Shinohara EM, et al. (2002). Metabolic effects of C677T and A1298C mutations at the MTHFR gene in Brazilian children with neural tube defects. Clin. Chim. Acta 318: 139-143. http://dx.doi.org/10.1016/S0009-8981(01)00764-1   Eskes TK (1998). Neural tube defects, vitamins and homocysteine. Eur. J. Pediatr. 157 (Suppl 2): S139-S141. http://dx.doi.org/10.1007/PL00014299 PMid:9587043   Frosst P, Blom HJ, Milos R, Goyette P, et al. (1995). A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat. Genet. 10: 111-113. http://dx.doi.org/10.1038/ng0595-111 PMid:7647779   Goyette P, Pai A, Milos R, Frosst P, et al. (1998). Gene structure of human and mouse methylenetetrahydrofolate reductase (MTHFR). Mamm. Genome 9: 652-656. http://dx.doi.org/10.1007/s003359900838 PMid:9680386   Karalti MD, Inal M, Yildirim Y, Çoker I, et al. (2007). The relationship between maternal 5,10-methylenetetrahydrofolate reductase C677T polymorphism and the development of neural tube defects: a 5-year study in Aegean Obstetrics and Gynecology Training and Research Hospital. Turkiye Klinikleri J. Gynecol. Obst. 2007: 337-341.   Melvin EC, George TM, Worley G, Franklin A, et al. (2000). Genetic studies in neural tube defects. NTD Collaborative Group. Pediatr. Neurosurg. 32: 1-9. http://dx.doi.org/10.1159/000028889 PMid:10765131   Posey DL, Khoury MJ, Mulinare J, Adams MJ Jr, et al. (1996). Is mutated MTHFR a risk factor for neural tube defects? Lancet 347: 686-687. http://dx.doi.org/10.1016/S0140-6736(96)91236-2   Samson GR (2003). The incidence and demography of neural tube defects in Abu Dhabi, United Arab Emirates (1992- 1999). J. Trop. Pediatr. 49: 256-257. http://dx.doi.org/10.1093/tropej/49.4.256 PMid:12929892   Tunçbilek E, Boduroglu K and Alikasifoglu M (1999). Neural tube defects in Turkey: prevalence, distribution and risk factors. Turk. J. Pediatr. 41: 299-305. PMid:10770089   van der Put NM and Blom HJ (2000). Neural tube defects and a disturbed folate dependent homocysteine metabolism. Eur. J. Obstet. Gynecol. Reprod. Biol. 92: 57-61. http://dx.doi.org/10.1016/S0301-2115(00)00426-7   van der Put NM, Gabreels F, Stevens EM, Smeitink JA, et al. (1998). A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects? Am. J. Hum. Genet. 62: 1044-1051. http://dx.doi.org/10.1086/301825 PMid:9545395 PMCid:1377082   Volcik KA, Blanton SH, Tyerman GH, Jong ST, et al. (2000). Methylenetetrahydrofolate reductase and spina bifida: evaluation of level of defect and maternal genotypic risk in Hispanics. Am. J. Med. Genet. 95: 21-27. http://dx.doi.org/10.1002/1096-8628(20001106)95:1<21::AID-AJMG6>3.0.CO;2-M