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European Journal of Human Genetics (297)
Bibliography

Lagier-Tourenne, C., Tranebjærg, L., Chaigne, D., Gribaa, M., Dollfus, H., Silvestri, G., Bétard, C., Warter, J. M., & Koenig, M. (2003). Homozygosity mapping of Marinesco–Sjögren syndrome to 5q31. European Journal of Human Genetics, 11(10), 770–778.

Authors 9
  1. C Lagier-Tourenne (first)
  2. L Tranebjærg (additional)
  3. D Chaigne (additional)
  4. M Gribaa (additional)
  5. H Dollfus (additional)
  6. G Silvestri (additional)
  7. C Bétard (additional)
  8. J M Warter (additional)
  9. M Koenig (additional)
References 51 Referenced 41
  1. Marinesco G, Draganesco S, Vasiliu D : Nouvelle maladie familiale caractérisée par une cataracte congénitale et un arrêt du développement somato-neuro-psychique. L’encéphale 1931; 26: 97–109. / L’encéphale by G Marinesco (1931)
  2. Sjögren T : Hereditary congenital spinocerebellar ataxia accompanied by congenital cataract and oligophrenia. Confinia Neurol 1950; 10: 293–308. (10.1159/000105590) / Confinia Neurol by T Sjögren (1950)
  3. Brogdon BG, Snow RD, Williams JP : Skeletal findings in Marinesco–Sjogren syndrome. Skeletal Radiol 1996; 25: 461–465. (10.1007/s002560050115) / Skeletal Radiol by BG Brogdon (1996)
  4. Reinker K, Hsia YE, Rimoin DL et al: Orthopaedic manifestations of Marinesco–Sjogren syndrome. J Pediatr Orthop 2002; 22: 399–403. / J Pediatr Orthop by K Reinker (2002)
  5. Superneau DW, Wertelecki W, Zellweger H, Bastian F : Myopathy in Marinesco–Sjogren syndrome. Eur Neurol 1987; 26: 8–16. (10.1159/000116305) / Eur Neurol by DW Superneau (1987)
  6. Herva R, von Wendt L, von Wendt G, Saukkonen AL, Leisti J, Dubowitz V : A syndrome with juvenile cataract, cerebellar atrophy, mental retardation and myopathy. Neuropediatrics 1987; 18: 164–169. (10.1055/s-2008-1052473) / Neuropediatrics by R Herva (1987)
  7. Sewry CA, Voit T, Dubowitz V : Myopathy with unique ultrastructural feature in Marinesco–Sjogren syndrome. Ann Neurol 1988; 24: 576–580. (10.1002/ana.410240416) / Ann Neurol by CA Sewry (1988)
  8. Borud O, Aasly J, Lindal S : Mitochondrial myopathy in six patients with Marinesco–Sjogren syndrome. Prog Clin Biol Res 1989; 306: 135–139. / Prog Clin Biol Res by O Borud (1989)
  9. Komiyama A, Nonaka I, Hirayama K : Muscle pathology in Marinesco–Sjogren syndrome. J Neurol Sci 1989; 89: 103–113. (10.1016/0022-510X(89)90010-5) / J Neurol Sci by A Komiyama (1989)
  10. Goto Y, Komiyama A, Tanabe Y, Katafuchi Y, Ohtaki E, Nonaka I : Myopathy in Marinesco–Sjogren syndrome: an ultrastructural study. Acta Neuropathol 1990; 80: 123–128. (10.1007/BF00308914) / Acta Neuropathol by Y Goto (1990)
  11. Kodama S, Komatsu M, Miyoshi M, Nakao H, Sakurai T : Marinesco–Sjogren syndrome with reduced cytochrome c oxidase in muscle. Kobe J Med Sci 1992; 38: 245–254. / Kobe J Med Sci by S Kodama (1992)
  12. Ishikawa T, Kitoh H, Awaya A, Nonaka I : Rapid cataract formation in Marinesco–Sjogren syndrome. Pediatr Neurol 1993; 9: 407–408. (10.1016/0887-8994(93)90114-R) / Pediatr Neurol by T Ishikawa (1993)
  13. Sasaki K, Suga K, Tsugawa S et al: Muscle pathology in Marinesco–Sjogren syndrome: a unique ultrastructural feature. Brain Dev 1996; 18: 64–67. (10.1016/0387-7604(95)00088-7) / Brain Dev by K Sasaki (1996)
  14. Suzuki Y, Murakami N, Goto Y et al: Apoptotic nuclear degeneration in Marinesco–Sjogren syndrome. Acta Neuropathol (Berl) 1997; 94: 410–415. (10.1007/s004010050727) / Acta Neuropathol (Berl) by Y Suzuki (1997)
  15. Torbergsen T, Aasly J, Borud O, Lindal S, Mellgren SI : Mitochondrial myopathy in Marinesco–Sjogren syndrome. J Ment Defic Res 1991; 35: 154–159. / J Ment Defic Res by T Torbergsen (1991)
  16. Lagier-Tourenne C, Chaigne D, Gong J et al: Linkage to 18qter differentiates two clinically overlapping syndromes: Congenital Cataracts Facial Dysmorphism Neuropathy syndrome and Marinesco-Sjögren syndrome. J Med Genet 2002; 39: 838–843. (10.1136/jmg.39.11.838) / J Med Genet by C Lagier-Tourenne (2002)
  17. Chaigne D, Mohr M, Bintner M : Myopathie et syndrome de Marinesco et Sjögren. A propos d’une observation familiale. Rev Neurol (Paris) 1993; 149: A238. / Rev Neurol (Paris) by D Chaigne (1993)
  18. Williams TE, Buchhalter JR, Sussman MD : Cerebellar dysplasia and unilateral cataract in Marinesco–Sjogren syndrome. Pediatr Neurol 1996; 14: 158–161. (10.1016/0887-8994(96)83273-5) / Pediatr Neurol by TE Williams (1996)
  19. Hakamada S, Sobue G, Watanabe K, Kumagai T, Hara K, Miyazaki S : Peripheral neuropathy in Marinesco–Sjogren syndrome. Brain Dev 1981; 3: 403–406. (10.1016/S0387-7604(81)80069-1) / Brain Dev by S Hakamada (1981)
  20. Alexianu M, Christodorescu D, Vasilescu C et al: Sensorimotor neuropathy in a patient with Marinesco–Sjogren syndrome. Eur Neurol 1983; 22: 222–226. (10.1159/000115563) / Eur Neurol by M Alexianu (1983)
  21. Zimmer C, Gosztonyi G, Cervos-Navarro J, von Moers A, Schroder JM : Neuropathy with lysosomal changes in Marinesco–Sjogren syndrome: fine structural findings in skeletal muscle and conjunctiva. Neuropediatrics 1992; 23: 329–335. (10.1055/s-2008-1071368) / Neuropediatrics by C Zimmer (1992)
  22. Farah S, Sabry MA, Khuraibet AJ et al: Marinesco–Sjogren syndrome in a Bedouin family. Acta Neurol Scand 1997; 96: 387–391. (10.1111/j.1600-0404.1997.tb00303.x) / Acta Neurol Scand by S Farah (1997)
  23. Muller-Felber W, Zafiriou D, Scheck R et al: Marinesco–Sjogren syndrome with rhabdomyolysis. A new subtype of the disease. Neuropediatrics 1998; 29: 97–101. (10.1055/s-2007-973542) / Neuropediatrics by W Muller-Felber (1998)
  24. Aguglia U, Annesi G, Pasquinelli G et al: Vitamin E deficiency due to chylomicron retention disease in Marinesco–Sjogren syndrome. Ann Neurol 2000; 47: 260–264. (10.1002/1531-8249(200002)47:2<260::AID-ANA21>3.0.CO;2-V) / Ann Neurol by U Aguglia (2000)
  25. McLaughlin JF, Pagon RA, Weinberger E, Haas JE : Marinesco–Sjogren syndrome: clinical and magnetic resonance imaging features in three children. Dev Med Child Neurol 1996; 38: 636–644. (10.1111/j.1469-8749.1996.tb12128.x) / Dev Med Child Neurol by JF McLaughlin (1996)
  26. Dotti MT, Bardelli AM, De Stefano N et al: Optic atrophy in Marinesco–Sjogren syndrome: an additional ocular feature. Report of three cases in two families. Ophthalm Paediatr Genet 1993; 14: 5–7. (10.3109/13816819309087616) / Ophthalm Paediatr Genet by MT Dotti (1993)
  27. Begeer JH, Scholte FA, van Essen AJ : Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, and polyneuropathy. J Med Genet 1991; 28: 884–885. (10.1136/jmg.28.12.884) / J Med Genet by JH Begeer (1991)
  28. Newton VE : Sensorineural hearing loss and the Marinesco–Sjogren syndrome. J Laryngol Otol 1991; 105: 210–212. (10.1017/S0022215100115385) / J Laryngol Otol by VE Newton (1991)
  29. Bromberg MB, Junck L, Gebarski SS, McLean MJ, Gilman S : The Marinesco–Sjogren syndrome examined by computed tomography, magnetic resonance, and 18F-2-fluoro-2-deoxy-D-glucose and positron emission tomography. Arch Neurol 1990; 47: 1239–1242. (10.1001/archneur.1990.00530110101025) / Arch Neurol by MB Bromberg (1990)
  30. Georgy BA, Snow RD, Brogdon BG, Wertelecki W : Neuroradiologic findings in Marinesco–Sjogren syndrome. Am J Neuroradiol 1998; 19: 281–283. / Am J Neuroradiol by BA Georgy (1998)
  31. Alter M, Kennedy W : The Marinesco–Sjogren syndrome. Hereditary cerebello-lental degeneration with mental retardation. Minn Med 1968; 51: 901–906. / Minn Med by M Alter (1968)
  32. Tachi N, Nagata N, Wakai S, Chiba S : Congenital muscular dystrophy in Marinesco–Sjogren syndrome. Pediatr Neurol 1991; 7: 296–298. (10.1016/0887-8994(91)90049-Q) / Pediatr Neurol by N Tachi (1991)
  33. Walker PD, Blitzer MG, Shapira E : Marinesco–Sjogren syndrome: evidence for a lysosomal storage disorder. Neurology 1985; 35: 415–419. (10.1212/WNL.35.3.415) / Neurology by PD Walker (1985)
  34. Tournev I, Kalaydjieva L, Youl B et al: Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan Gypsies: clinical and electrophysiological observations. Ann Neurol 1999; 45: 742–750. (10.1002/1531-8249(199906)45:6<742::AID-ANA8>3.0.CO;2-N) / Ann Neurol by I Tournev (1999)
  35. Tournev I, King RH, Workman J et al: Peripheral nerve abnormalities in the congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome. Acta Neuropathol (Berl) 1999; 98: 165–170. (10.1007/s004010051065) / Acta Neuropathol (Berl) by I Tournev (1999)
  36. Tournev I, Thomas PK, Gooding R et al: Congenital cataracts facial dysmorphism neuropathy syndrome – clinical, neuropathological and genetic investigation. Acta Myolog 2001; XX: 210–219. / Acta Myolog by I Tournev (2001)
  37. Angelicheva D, Turnev I, Dye D, Chandler D, Thomas PK, Kalaydjieva L : Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a novel developmental disorder in Gypsies maps to 18qter. Eur J Hum Genet 1999; 7: 560–566. (10.1038/sj.ejhg.5200319) / Eur J Hum Genet by D Angelicheva (1999)
  38. Merlini L, Gooding R, Lochmuller H et al: Genetic identity of Marinesco–Sjogren/myoglobinuria and CCFDN syndromes. Neurology 2002; 58: 231–236. (10.1212/WNL.58.2.231) / Neurology by L Merlini (2002)
  39. Bassöe HH : Familial congenital muscular dystrophy with gonadal dysgenesis. J Clin Endocrinol 1956; 16: 1614–1621. (10.1210/jcem-16-12-1614) / J Clin Endocrinol by HH Bassöe (1956)
  40. Andersen B : Spinocerebellar ataxia, congenital cataract, somatic and mental retardation. Dev Med Child Neurol 1965; 7: 249–257. (10.1111/j.1469-8749.1965.tb10929.x) / Dev Med Child Neurol by B Andersen (1965)
  41. Skre H, Bassöe HH, Berg K, Frövig AG : Cerebellar ataxia and hypergonadotropic hypogonadism in two kindreds. Chance concurrence, pleiotropism or linkage? Clin Genet 1976; 9: 234–244. (10.1111/j.1399-0004.1976.tb01570.x) / Clin Genet by H Skre (1976)
  42. Skre H, Berg K : Linkage studies on Marinesco–Sjogren syndrome and hypergonadotropic hypogonadism. Clin Genet 1977; 11: 57–66. (10.1111/j.1399-0004.1977.tb01279.x) / Clin Genet by H Skre (1977)
  43. Torbergsen T, Stalberg E, Aasly J, Lindal S : Myopathy in Marinesco–Sjogren syndrome: an electrophysiological study. Acta Neurol Scand 1991; 84: 132–138. (10.1111/j.1600-0404.1991.tb04921.x) / Acta Neurol Scand by T Torbergsen (1991)
  44. Lindal S, Lund I, Torbergsen T et al: Mitochondrial diseases and myopathies: a series of muscle biopsy specimens with ultrastructural changes in the mitochondria. Ultrastruct Pathol 1992; 16: 263–275. (10.3109/01913129209061355) / Ultrastruct Pathol by S Lindal (1992)
  45. Dib C, Faure S, Fizames C et al: A comprehensive genetic map of the human genome based on 5264 microsatellites. Nature 1996; 380: 152–154. (10.1038/380152a0) / Nature by C Dib (1996)
  46. Warner JP, Barron LH, Goudie D et al: A general method for the detection of large CAG repeat expansions by fluorescent PCR. J Med Genet 1996; 33: 1022–1026. (10.1136/jmg.33.12.1022) / J Med Genet by JP Warner (1996)
  47. Ben Hamida C, Doerflinger N, Belal S et al: Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping. Nat Genet 1993; 5: 195–200. (10.1038/ng1093-195) / Nat Genet by C Ben Hamida (1993)
  48. Cottingham RW, Idury RM, Schaffer AA : Faster sequential genetic linkage computations. Am J Hum Genet 1993; 53: 252–263. / Am J Hum Genet by RW Cottingham (1993)
  49. Lathrop GM, Lalouel JM, Julier C, Ott J : Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet 1985; 37: 482–498. / Am J Hum Genet by GM Lathrop (1985)
  50. Jones B, Jones EL, Bonney SA et al: Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders. Nat Genet 2003; 34: 29–31. (10.1038/ng1145) / Nat Genet by B Jones (2003)
  51. Schon EA, Manfredi G : Neuronal degeneration and mitochondrial dysfunction. J Clin Invest 2003; 111: 303–312. (10.1172/JCI200317741) / J Clin Invest by EA Schon (2003)
Dates
Type When
Created 21 years, 11 months ago (Sept. 26, 2003, 4:47 a.m.)
Deposited 2 years, 3 months ago (May 17, 2023, 9:30 p.m.)
Indexed 4 months, 2 weeks ago (April 11, 2025, 12:46 p.m.)
Issued 21 years, 11 months ago (Sept. 26, 2003)
Published 21 years, 11 months ago (Sept. 26, 2003)
Published Online 21 years, 11 months ago (Sept. 26, 2003)
Published Print 21 years, 10 months ago (Oct. 1, 2003)
Funders 0

None

@article{Lagier_Tourenne_2003, title={Homozygosity mapping of Marinesco–Sjögren syndrome to 5q31}, volume={11}, ISSN={1476-5438}, url={http://dx.doi.org/10.1038/sj.ejhg.5201068}, DOI={10.1038/sj.ejhg.5201068}, number={10}, journal={European Journal of Human Genetics}, publisher={Springer Science and Business Media LLC}, author={Lagier-Tourenne, C and Tranebjærg, L and Chaigne, D and Gribaa, M and Dollfus, H and Silvestri, G and Bétard, C and Warter, J M and Koenig, M}, year={2003}, month=sep, pages={770–778} }