| 1 | CMT2D, GARS
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| Infantile onset CMT2D/dSMA V in monozygotic twins due to a mutation in the anticodon-binding domain of GARS.
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| Eskuri JM, Stanley CM, Moore SA, Mathews KD.
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| J Peripher Nerv Syst 17(1):132-4. doi: 10.1111/j.1529-8027.2012.00370.x.
2012
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| 2 | CMT2D, GARS
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| Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels.
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| Motley WW, Seburn KL, Nawaz MH, Miers KE, Cheng J, Antonellis A, Green ED, Talbot K, Yang XL, Fischbeck KH, Burgess RW.
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| PLoS Genet 7(12):e1002399. Epub 2011 Dec 1.
2011
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| 3 | CMT2D, GARS
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| Charcot-Marie-Tooth disease type 2D with a novel glycyl-tRNA synthetase gene (GARS) mutation.
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| Hamaguchi A, Ishida C, Iwasa K, Abe A, Yamada M.
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| J Neurol 257(7):1202-4. Epub 2010 Feb 19. No abstract available.
2010
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| 4 | CMT2D, GARS
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| The GARS gene is rarely mutated in Japanese patients with Charcot-Marie-Tooth neuropathy.
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| Abe A, Hayasaka K.
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| J Hum Genet 54(5):310-2. Epub 2009 Mar 27.
2009
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| 5 | CMT2D, GARS
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| An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy.
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| Achilli F, Bros-Facer V, Williams HP, Banks GT, AlQatari M, Chia R, Tucci V, Groves M, Nickols CD, Seburn KL, Kendall R, Cader MZ, Talbot K, van Minnen J, Burgess RW, Brandner S, Martin JE, Koltzenburg M, Greensmith L, Nolan PM, Fisher EM.
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| Dis Model Mech 2(7-8):359-73. Epub 2009 May 26.
2009
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| 6 | CMT2D,GARS
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| Long-range structural effects of a Charcot-Marie-Tooth disease-causing mutation in human glycyl-tRNA synthetase.
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| Xie W, Nangle LA, Zhang W, Schimmel P, Yang XL.
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| Proc Natl Acad Sci U S A 104(24):9976-81. Epub 2007 Jun 1. 2007
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| 7 | CMT2D,GARS
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| Charcot-Marie-Tooth disease-associated mutant tRNA synthetases linked to altered dimer interface and neurite distribution defect.
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| Nangle LA, Zhang W, Xie W, Yang XL, Schimmel P.
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| Proc Natl Acad Sci U S A 104(27):11239-44. Epub 2007 Jun 26. 2007
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| 8 | CMT2D, DSMAVA, GARS
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| Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.
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| Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin SQ, Jordanova A, Kremensky I, Christodoulou K, Middleton LT, Sivakumar K, Ionasescu V, Funalot B, Vance JM, Goldfarb LG, Fischbeck KH, Green ED.
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| Am J Hum Genet 72(5):1293-9. Epub 2003 Apr 10. 2003
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| 9 | CMT2A2,CMT2B2,CMT2D,CMT2E,NEFL
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| A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.
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| Mersiyanova IV, Perepelov AV, Polyakov AV, Sitnikov VF, Dadali EL, Oparin RB, Petrin AN, Evgrafov OV.
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| Am J Hum Genet 67(1):37-46. 2000
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| 10 | CMT2D
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| The CMT2D locus: refined genetic position and construction of a bacterial clone-based physical map.
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| Ellsworth RE, et al.
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| Genome Res 9(6):568-74. 1999
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| 11 | CMT2D
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| Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15.
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| Sambuughin N, et al.
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| J Neurol Sci 161(1):23-8. 1998
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| 12 | CMT2D
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| Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D).
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| Ionasescu V, et al.
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| Hum Mol Genet 5 : 1373-1375. 1996
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