OMIM/602783[Secondary Source ID] - Search Results

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Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60.

Hansen JJ, Dürr A, Cournu-Rebeix I, Georgopoulos C, Ang D, Nielsen MN, Davoine CS, Brice A, Fontaine B, Gregersen N, Bross P. Hansen JJ, et al. Am J Hum Genet. 2002 May;70(5):1328-32. doi: 10.1086/339935. Epub 2002 Mar 15. Am J Hum Genet. 2002. PMID: 11898127 Free PMC article.

A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10).

Reid E, Kloos M, Ashley-Koch A, Hughes L, Bevan S, Svenson IK, Graham FL, Gaskell PC, Dearlove A, Pericak-Vance MA, Rubinsztein DC, Marchuk DA. Reid E, et al. Am J Hum Genet. 2002 Nov;71(5):1189-94. doi: 10.1086/344210. Epub 2002 Sep 24. Am J Hum Genet. 2002. PMID: 12355402 Free PMC article.

Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.

Eymard-Pierre E, Lesca G, Dollet S, Santorelli FM, di Capua M, Bertini E, Boespflug-Tanguy O. Eymard-Pierre E, et al. Am J Hum Genet. 2002 Sep;71(3):518-27. doi: 10.1086/342359. Epub 2002 Jul 26. Am J Hum Genet. 2002. PMID: 12145748 Free PMC article.

The Xq22 inversion breakpoint interrupted a novel Ras-like GTPase gene in a patient with Duchenne muscular dystrophy and profound mental retardation.

Saito-Ohara F, Fukuda Y, Ito M, Agarwala KL, Hayashi M, Matsuo M, Imoto I, Yamakawa K, Nakamura Y, Inazawa J. Saito-Ohara F, et al. Am J Hum Genet. 2002 Sep;71(3):637-45. doi: 10.1086/342208. Epub 2002 Jul 23. Am J Hum Genet. 2002. PMID: 12145744 Free PMC article.

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