-
1
-
-
0001140122
-
Inherited neuronal atrophy and degeneration predominantly of lower motor neurons
-
PJ Dyck, PK Thomas, eds. Philadelphia: WB Saunders
-
Harding AE. Inherited neuronal atrophy and degeneration predominantly of lower motor neurons. In: PJ Dyck, PK Thomas, eds. Peripheral Neuropathy. Philadelphia: WB Saunders; 1993.
-
(1993)
Peripheral Neuropathy.
-
-
Harding, A.E.1
-
2
-
-
80053964169
-
Molecular genetics and mechanisms of disease in distal hereditary motor neuropathies: Insights directing future genetic studies
-
Drew AP, Blair IP, Nicholson GA. Molecular genetics and mechanisms of disease in distal hereditary motor neuropathies: Insights directing future genetic studies. Curr Mol Med 2011;11:650-665.
-
(2011)
Curr Mol Med
, vol.11
, pp. 650-665
-
-
Drew, A.P.1
Blair, I.P.2
Nicholson, G.A.3
-
3
-
-
2642539919
-
Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy
-
Irobi J, Van Impe K, Seeman P, et al. Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. Nat Genet 2004;36:597-601.
-
(2004)
Nat Genet
, vol.36
, pp. 597-601
-
-
Irobi, J.1
Van Impe, K.2
Seeman, P.3
-
4
-
-
58149243285
-
Mutations in the HSP27 (HSPB1) gene cause dominant, reces-sive, and sporadic distal HMN/CMT type 2
-
Houlden H, Laura M, Wavrant-De Vrièze F, et al. Mutations in the HSP27 (HSPB1) gene cause dominant, reces-sive, and sporadic distal HMN/CMT type 2. Neurology 2008;71:1660-1668.
-
(2008)
Neurology
, vol.71
, pp. 1660-1668
-
-
Houlden, H.1
Laura, M.2
Wavrant-De Vrièze, F.3
-
5
-
-
0038067742
-
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V
-
Antonellis A, Ellsworth RE, Sambuughin N, et al. Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet 2003;72:1293-1299.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 1293-1299
-
-
Antonellis, A.1
Ellsworth, R.E.2
Sambuughin, N.3
-
6
-
-
10744229057
-
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome
-
Windpassinger C, Auer-Grumbach M, Irobi J, et al. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nat Genet 2004;36:271-276.
-
(2004)
Nat Genet
, vol.36
, pp. 271-276
-
-
Windpassinger, C.1
Auer-Grumbach, M.2
Irobi, J.3
-
7
-
-
0032569930
-
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
-
Sambuughin N, Sivakumar K, Selenge B, et al. 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. J Neurol Sci 1998;161:23-28.
-
(1998)
J Neurol Sci
, vol.161
, pp. 23-28
-
-
Sambuughin, N.1
Sivakumar, K.2
Selenge, B.3
-
8
-
-
31744448271
-
Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy
-
Jordanova A, Irobi J, Thomas FP, et al. Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy. Nat Genet 2006;38:197-202.
-
(2006)
Nat Genet
, vol.38
, pp. 197-202
-
-
Jordanova, A.1
Irobi, J.2
Thomas, F.P.3
-
9
-
-
73349114324
-
A major determinant for binding and aminoacylation of tRNAAla in cytoplasmic alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease
-
Latour P, Thauvin-Robinet C, Baudelet-Méry C, et al. A major determinant for binding and aminoacylation of tRNAAla in cytoplasmic alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease. Am J Hum Genet 2010;86: 77-82.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 77-82
-
-
Latour, P.1
Thauvin-Robinet, C.2
Baudelet-Méry, C.3
-
10
-
-
77957724879
-
Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy
-
McLaughlin HM, Sakaguchi R, Liu C, et al. Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. Am J Hum Genet 2010;87:560-566.
-
(2010)
Am J Hum Genet
, vol.87
, pp. 560-566
-
-
McLaughlin, H.M.1
Sakaguchi, R.2
Liu, C.3
-
11
-
-
0035184770
-
Highthroughput variation detection and genotyping using microarrays
-
Cutler DJ, Zwick ME, Carrasquillo MM, et al. Highthroughput variation detection and genotyping using microarrays. Genome Res 2001;11:1913-1925.
-
(2001)
Genome Res
, vol.11
, pp. 1913-1925
-
-
Cutler, D.J.1
Zwick, M.E.2
Carrasquillo, M.M.3
-
12
-
-
33749853624
-
Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons
-
Antonellis A, Lee-Lin SQ, Wasterlain A, et al. Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons. J Neurosci 2006;26:10397-10406.
-
(2006)
J Neurosci
, vol.26
, pp. 10397-10406
-
-
Antonellis, A.1
Lee-Lin, S.Q.2
Wasterlain, A.3
-
13
-
-
1842526081
-
Alanyl-tRNA synthetase crystal structure and design for acceptor-stem recognition
-
Swairjo MA, Otero FJ, Yang XL, et al. Alanyl-tRNA synthetase crystal structure and design for acceptor-stem recognition. Mol Cell 2004;13:829-841.
-
(2004)
Mol Cell
, vol.13
, pp. 829-841
-
-
Swairjo, M.A.1
Otero, F.J.2
Yang, X.L.3
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