| 1 | CMT2L, HSPB8
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| HspB8 mutation causing hereditary distal motor neuropathy impairs lysosomal delivery of autophagosomes.
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| Kwok AS, Phadwal K, Turner BJ, Oliver PL, Raw A, Simon AK, Talbot K, Agashe VR.
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| J Neurochem 119(6):1155-61. doi: 10.1111/j.1471-4159.2011.07521.x. Epub 2011 Nov 3.
2011
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| 2 | CMT2L, HSPB8
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| Mutant HSPB8 causes motor neuron-specific neurite degeneration.
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| Irobi J, Almeida-Souza L, Asselbergh B, De Winter V, Goethals S, Dierick I, Krishnan J, Timmermans JP, Robberecht W, De Jonghe P, Van Den Bosch L, Janssens S, Timmerman V.
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| Hum Mol Genet 19(16):3254-65. Epub 2010 Jun 10.PMID: 20538880 2010
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| 3 | CMT2L, HSPB8
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| Abnormal small heat shock protein interactions involving neuropathy-associated HSP22 (HSPB8) mutants.
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| Fontaine JM, Sun X, Hoppe AD, Simon S, Vicart P, Welsh MJ, Benndorf R.
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| FASEB J 20(12):2168-70. Epub 2006 Aug 25.PMID: 16935933 2006
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| 4 | CMT2L, HSPB8
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| Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L.
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| Tang BS, Zhao GH, Luo W, Xia K, Cai F, Pan Q, Zhang RX, Zhang FF, Liu XM, Chen B, Zhang C, Shen L, Jiang H, Long ZG, Dai HP.
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| Hum Genet 116(3):222-224. Epub 2004 Nov 23. 2005
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| 5 | CMT2L
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| Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2G) maps to chromosome 12q12-q13.3.
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| Nelis E, Berciano J, Verpoorten N, Coen K, Dierick I, Van Gerwen V, Combarros O, De Jonghe P, Timmerman V.
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| J Med Genet 41(3):193-7. No abstract available. 2004
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| 6 | CMT2L
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| A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24.
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| Tang BS, Luo W, Xia K, Xiao JF, Jiang H, Shen L, Tang JG, Zhao GH, Cai F, Pan Q, Dai HP, Yang QD, Xia JH, Evgrafov OV.
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| Hum Genet 114(6):527-33. Epub 2004 Mar 12. 2004
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