1 | GAN
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| Gigaxonin controls vimentin organization through a tubulin chaperone-independent pathway.
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| Cleveland DW, Yamanaka K, Bomont P.
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| Hum Mol Genet 18(8):1384-94. Epub 2009 Jan 24.
2009
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2 | GAN
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| Clinical, pathological and molecular findings in two siblings with giant axonal neuropathy (GAN): report from India.
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| Nalini A, Gayathri N, Yasha TC, Ravishankar S, Urtizberea A, Huehne K, Rautenstrauss B.
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| Eur J Med Genet 51(5):426-35. Epub 2008 Jun 17.
2008
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3 | GAN
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| Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN).
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| Koop O, Schirmacher A, Nelis E, Timmerman V, De Jonghe P, Ringelstein B, Rasic VM, Evrard P, Gärtner J, Claeys KG, Appenzeller S, Rautenstrauss B, Hühne K, Ramos-Arroyo MA, Wörle H, Moilanen JS, Hammans S, Kuhlenbäumer G.
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| Neuromuscul Disord 17(8):624-30. Epub 2007 Jun 22.
2007
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4 | GAN
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| New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy.
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| Houlden H, Groves M, Miedzybrodzka Z, Roper H, Willis T, Winer J, Cole G, Reilly MM.
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| J Neurol Neurosurg Psychiatry 78(11):1267-70. Epub 2007 Jun 19.
2007
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5 | GAN
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| Giant axonal neuropathy.
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| Yang Y, Allen E, Ding J, Wang W.
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| Cell Mol Life Sci 64(5):601-9. Review.
2007
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6 | GAN
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| Gigaxonin-controlled degradation of MAP1B light chain is critical to neuronal survival.
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| Allen E, Ding J, Wang W, Pramanik S, Chou J, Yau V, Yang Y.
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| Nature 438(7065):224-8. Epub 2005 Oct 16. 2005
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7 | GAN, TBCB
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| Gigaxonin interacts with tubulin folding cofactor B and controls its degradation through the ubiquitin-proteasome pathway.
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| Wang W, Ding J, Allen E, Zhu P, Zhang L, Vogel H, Yang Y.
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| Curr Biol 15(22):2050-5. 2005
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8 | GAN
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| Intermediate filament aggregation in fibroblasts of giant axonal neuropathy patients is aggravated in non dividing cells and by microtubule destabilization. ,
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| Bomont, P.
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| Hum. Molec. Genet. 12: 813-822. 2003
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9 | GAN
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| Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene.
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| Kuhlenbaumer G, Young P, Oberwittler C, Hunermund G, Schirmacher A, Domschke K, Ringelstein B, Stogbauer F.
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| Neurology 58(8):1273-6. Erratum in: Neurology 2002 May 14;58(9):1444. 2002
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10 | GAN
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| Giant axonal neuropathy locus refinement to a < 590 kb critical interval.
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| Cavalier L, BenHamida C, Amouri R, Belal S, Bomont P, Lagarde N, Gressin L, Callen D, Demir E, Topaloglu H, Landrieu P, Ioos C, Hamida MB, Koenig M, Hentati F.
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| Eur J Hum Genet 8(7):527-34. 2000
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11 | GAN, GCSH, ATMIN
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| The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.
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| Bomont P, Cavalier L, Blondeau F, Ben Hamida C, Belal S, Tazir M, Demir E, Topaloglu H, Korinthenberg R, Tuysuz B, Landrieu P, Hentati F, Koenig M.
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| Nat Genet 26(3):370-4. 2000
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12 | GAN
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| Localization of the giant axonal neuropathy gene to chromosome 16q24.
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| Flanigan KM, Crawford TO, Griffin JW, Goebel HH, Kohlschutter A, Ranells J, Camfield PR, Ptacek LJ.
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| Ann Neurol 43(1):143-8. 1998
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