-
1
-
-
67649529432
-
The GARS gene is rarely mutated in Japanese patients with Charcot-Marie-Tooth neuropathy
-
Abe, A., and K. Hayasaka. 2009. The GARS gene is rarely mutated in Japanese patients with Charcot-Marie-Tooth neuropathy. J. Hum. Genet. 54:310-312.
-
(2009)
J. Hum. Genet
, vol.54
, pp. 310-312
-
-
Abe, A.1
Hayasaka, K.2
-
2
-
-
70349773389
-
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
-
Achilli, F., V. Bros-Facer, H. P. Williams, G. T. Banks, M. AlQatari, R. Chia, V. Tucci, M. Groves, C. D. Nickols, K. L. Seburn, R. Kendall, M. Z. Cader, K. Talbot, J. van Minnen, R. W. Burgess, S. Brandner, J. E. Martin, M. Koltzenburg, L. Greensmith, P. M. Nolan, and E. M. Fisher. 2009. 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. Dis. Model. Mech. 2:359-373.
-
(2009)
Dis. Model. Mech.
, vol.2
, pp. 359-373
-
-
Achilli, F.1
Bros-Facer, V.2
Williams, H.P.3
Banks, G.T.4
AlQatari, M.5
Chia, R.6
Tucci, V.7
Groves, M.8
Nickols, C.D.9
Seburn, K.L.10
Kendall, R.11
Cader, M.Z.12
Talbot, K.13
van Minnen, J.14
Burgess, R.W.15
Brandner, S.16
Martin, J.E.17
Koltzenburg, M.18
Greensmith, L.19
Nolan, P.M.20
Fisher, E.M.21
more..
-
3
-
-
79961163495
-
Recent advances in the genetics of hereditary axonal sensory-motor neuropathies type 2
-
Ajroud-Driss, S., H. X. Deng, and T. Siddique. 2011. Recent advances in the genetics of hereditary axonal sensory-motor neuropathies type 2. Curr. Neurol. Neurosci. Rep. 11:262-273.
-
(2011)
Curr. Neurol. Neurosci. Rep.
, vol.11
, pp. 262-273
-
-
Ajroud-Driss, S.1
Deng, H.X.2
Siddique, T.3
-
4
-
-
33644778689
-
Making an escape: development and function of the Drosophila giant fibre system
-
Allen, M. J., T. A. Godenschwege, M. A. Tanouye, and P. Phelan. 2006. Making an escape: development and function of the Drosophila giant fibre system. Semin. Cell Dev. Biol. 17:31-41.
-
(2006)
Semin. Cell Dev. Biol.
, vol.17
, pp. 31-41
-
-
Allen, M.J.1
Godenschwege, T.A.2
Tanouye, M.A.3
Phelan, P.4
-
5
-
-
0038067742
-
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V
-
Antonellis, A., R. E. Ellsworth, N. Sambuughin, I. Puls, A. Abel, S. Q. Lee-Lin, A. Jordanova, I. Kremensky, K. Christodoulou, L. T. Middleton, K. Sivakumar, V. Ionasescu, B. Funalot, J. M. Vance, L. G. Goldfarb, K. H. Fischbeck, and E. D. Green. 2003. Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am. J. Hum. Genet. 72:1293-1299.
-
(2003)
Am. J. Hum. Genet.
, vol.72
, pp. 1293-1299
-
-
Antonellis, A.1
Ellsworth, R.E.2
Sambuughin, N.3
Puls, I.4
Abel, A.5
Lee-Lin, S.Q.6
Jordanova, A.7
Kremensky, I.8
Christodoulou, K.9
Middleton, L.T.10
Sivakumar, K.11
Ionasescu, V.12
Funalot, B.13
Vance, J.M.14
Goldfarb, L.G.15
Fischbeck, K.H.16
Green, E.D.17
-
6
-
-
33749853624
-
Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons
-
Antonellis, A., S.Q. Lee-Lin, A. Wasterlain, P. Leo, M. Quezado, L. G. Goldfarb, K. Myung, S. Burgess, K. H. Fischbeck, and E. D. Green. 2006. Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons. J. Neurosci. 26:10397-10406.
-
(2006)
J. Neurosci.
, vol.26
, pp. 10397-10406
-
-
Antonellis, A.1
Lee-Lin, S.Q.2
Wasterlain, A.3
Leo, P.4
Quezado, M.5
Goldfarb, L.G.6
Myung, K.7
Burgess, S.8
Fischbeck, K.H.9
Green, E.D.10
-
7
-
-
0027160708
-
Targeted gene expression as a means of altering cell fates and generating dominant phenotypes
-
Brand, A. H., and N. Perrimon. 1993. Targeted gene expression as a means of altering cell fates and generating dominant phenotypes. Development. 118:401-415.
-
(1993)
Development
, vol.118
, pp. 401-415
-
-
Brand, A.H.1
Perrimon, N.2
-
8
-
-
76049103000
-
Mammalian aminoacyl-tRNA synthetases: cell signaling functions of the protein translation machinery
-
Brown, M. V., J. S. Reader, and E. Tzima. 2010. Mammalian aminoacyl-tRNA synthetases: cell signaling functions of the protein translation machinery. Vascul. Pharmacol. 52:21-26.
-
(2010)
Vascul. Pharmacol.
, vol.52
, pp. 21-26
-
-
Brown, M.V.1
Reader, J.S.2
Tzima, E.3
-
9
-
-
34250340882
-
Crystal structure of human wildtype and S581L-mutant glycyl-tRNA synthetase, an enzyme underlying distal spinal muscular atrophy
-
Cader, M. Z., J. Ren, P. A. James, L.E. Bird, K. Talbot, and D. K. Stammers. 2007. Crystal structure of human wildtype and S581L-mutant glycyl-tRNA synthetase, an enzyme underlying distal spinal muscular atrophy. FEBS Lett. 581:2959-2964.
-
(2007)
FEBS Lett
, vol.581
, pp. 2959-2964
-
-
Cader, M.Z.1
Ren, J.2
James, P.A.3
Bird, L.E.4
Talbot, K.5
Stammers, D.K.6
-
10
-
-
34347348110
-
Cytoplasmic and mitochondrial protein translation in axonal and dendritic terminal arborization
-
Chihara, T., D. Luginbuhl, and L. Luo. 2007. Cytoplasmic and mitochondrial protein translation in axonal and dendritic terminal arborization. Nat. Neurosci. 10:828-837.
-
(2007)
Nat. Neurosci.
, vol.10
, pp. 828-837
-
-
Chihara, T.1
Luginbuhl, D.2
Luo, L.3
-
11
-
-
33645884424
-
Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation
-
Del Bo, R., F. Locatelli, S. Corti, M. Scarlato, S. Ghezzi, A. Prelle, G. Fagiolari, M. Moggio, M. Carpo, N. Bresolin, and G. P. Comi. 2006. Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation. Neurology. 66:752-754.
-
(2006)
Neurology
, vol.66
, pp. 752-754
-
-
Del Bo, R.1
Locatelli, F.2
Corti, S.3
Scarlato, M.4
Ghezzi, S.5
Prelle, A.6
Fagiolari, G.7
Moggio, M.8
Carpo, M.9
Bresolin, N.10
Comi, G.P.11
-
12
-
-
79958260092
-
The human brain in a dish: the promise of iPSC-derived neurons
-
Dolmetsch, R., and D. H. Geschwind. 2011. The human brain in a dish: the promise of iPSC-derived neurons. Cell. 145:831-834.
-
(2011)
Cell
, vol.145
, pp. 831-834
-
-
Dolmetsch, R.1
Geschwind, D.H.2
-
13
-
-
33745664558
-
The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V
-
Dubourg, O., H. Azzedine, R. B. Yaou, J. Pouget, A. Barois, V. Meininger, D. Bouteiller, M. Ruberg, A. Brice, and E. LeGuern. 2006. The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V. Neurology. 66:1721-1726.
-
(2006)
Neurology
, vol.66
, pp. 1721-1726
-
-
Dubourg, O.1
Azzedine, H.2
Yaou, R.B.3
Pouget, J.4
Barois, A.5
Meininger, V.6
Bouteiller, D.7
Ruberg, M.8
Brice, A.9
LeGuern, E.10
-
14
-
-
0004158613
-
-
Saunders Company, Philadelphia
-
Dyck, P. J. 1993. Peripheral Neuropathy. Saunders Company, Philadelphia. 1094-1136 pp.
-
(1993)
Peripheral Neuropathy
, pp. 1094-1136
-
-
Dyck, P.J.1
-
15
-
-
84866049277
-
Two rare human mitofusin 2 mutations alter mitochondrial dynamics and induce retinal and cardiac pathology in Drosophila
-
Eschenbacher, W. H., M. Song, Y. Chen, P. Bhandari, P. Zhao, C.C. Jowdy, J. T. Engelhard, and G. W. Dorn, 2nd. 2012. Two rare human mitofusin 2 mutations alter mitochondrial dynamics and induce retinal and cardiac pathology in Drosophila. PLoS One. 7:e44296.
-
(2012)
PLoS One
, vol.7
-
-
Eschenbacher, W.H.1
Song, M.2
Chen, Y.3
Bhandari, P.4
Zhao, P.5
Jowdy, C.C.6
Engelhard, J.T.7
Dorn, G.W.8
-
16
-
-
0032610560
-
Development of the adult neuromuscular system
-
Fernandes, J. J., and H. Keshishian. 1999. Development of the adult neuromuscular system. Int. Rev. Neurobiol. 43:221-239.
-
(1999)
Int. Rev. Neurobiol.
, vol.43
, pp. 221-239
-
-
Fernandes, J.J.1
Keshishian, H.2
-
17
-
-
38449110315
-
Creating transgenic Drosophila by microinjecting the site-specific phiC31 integrase mRNA and a transgene-containing donor plasmid
-
Fish, M. P., A. C. Groth, M. P. Calos, and R. Nusse. 2007. Creating transgenic Drosophila by microinjecting the site-specific phiC31 integrase mRNA and a transgene-containing donor plasmid. Nat. Protoc. 2:2325-2331.
-
(2007)
Nat. Protoc.
, vol.2
, pp. 2325-2331
-
-
Fish, M.P.1
Groth, A.C.2
Calos, M.P.3
Nusse, R.4
-
18
-
-
84861812079
-
Murine therapeutic models for Charcot-Marie-Tooth (CMT) disease
-
Fledrich, R., R. M. Stassart, and M. W. Sereda. 2012. Murine therapeutic models for Charcot-Marie-Tooth (CMT) disease. Br. Med. Bull. 102:89-113.
-
(2012)
Br. Med. Bull.
, vol.102
, pp. 89-113
-
-
Fledrich, R.1
Stassart, R.M.2
Sereda, M.W.3
-
19
-
-
80051754461
-
Dominant Intermediate Charcot-Marie-Tooth disorder is not due to a catalytic defect in tyrosyl-tRNA synthetase
-
Froelich, C. A., and E. A. First. 2011. Dominant Intermediate Charcot-Marie-Tooth disorder is not due to a catalytic defect in tyrosyl-tRNA synthetase. Biochemistry. 50:7132-7145.
-
(2011)
Biochemistry
, vol.50
, pp. 7132-7145
-
-
Froelich, C.A.1
First, E.A.2
-
20
-
-
0036897580
-
Bi- directional signaling by Semaphorin 1a during central synapse formation in Drosophila
-
Godenschwege, T. A., H. Hu, X. Shan-Crofts, C. S. Goodman, and R. K. Murphey. 2002. Bi-directional signaling by Semaphorin 1a during central synapse formation in Drosophila. Nat. Neurosci. 5:1294-1301.
-
(2002)
Nat. Neurosci.
, vol.5
, pp. 1294-1301
-
-
Godenschwege, T.A.1
Hu, H.2
Shan-Crofts, X.3
Goodman, C.S.4
Murphey, R.K.5
-
21
-
-
71549128376
-
Functional expansion of human tRNA synthetases achieved by structural inventions
-
Guo, M., P. Schimmel, and X. L. Yang. 2010. Functional expansion of human tRNA synthetases achieved by structural inventions. FEBS Lett. 584:434-442.
-
(2010)
FEBS Lett
, vol.584
, pp. 434-442
-
-
Guo, M.1
Schimmel, P.2
Yang, X.L.3
-
22
-
-
79961094170
-
Dispersed disease-causing neomorphic mutations on a single protein promote the same localized conformational opening
-
He, W., H. M. Zhang, Y. E. Chong, M. Guo, A. G. Marshall, and X. L. Yang. 2011. Dispersed disease-causing neomorphic mutations on a single protein promote the same localized conformational opening. Proc. Natl. Acad. Sci. U S A. 108:12307-12312.
-
(2011)
Proc. Natl. Acad. Sci. U S A.
, vol.108
, pp. 12307-12312
-
-
He, W.1
Zhang, H.M.2
Chong, Y.E.3
Guo, M.4
Marshall, A.G.5
Yang, X.L.6
-
23
-
-
33751001764
-
Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene
-
James, P.A., M. Z. Cader, F. Muntoni, A.M. Childs, Y.J. Crow, and K. Talbot. 2006. Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene. Neurology. 67:1710-1712.
-
(2006)
Neurology
, vol.67
, pp. 1710-1712
-
-
James, P.A.1
Cader, M.Z.2
Muntoni, F.3
Childs, A.M.4
Crow, Y.J.5
Talbot, K.6
-
24
-
-
31744448271
-
Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy
-
Jordanova, A., J. Irobi, F.P. Thomas, P. Van Dijck, K. Meerschaert, M. Dewil, I. Dierick, A. Jacobs, E. De Vriendt, V. Guergueltcheva, C. V. Rao, I. Tournev, F. A. Gondim, M. D'Hooghe, V. Van Gerwen, P. Callaerts, L. Van Den Bosch, J. P. Timmermans, W. Robberecht, J. Gettemans, J. M. Thevelein, P. De Jonghe, I. Kremensky, and V. Timmerman. 2006. Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy. Nat. Genet. 38:197-202.
-
(2006)
Nat. Genet.
, vol.38
, pp. 197-202
-
-
Jordanova, A.1
Irobi, J.2
Thomas, F.P.3
Van Dijck, P.4
Meerschaert, K.5
Dewil, M.6
Dierick, I.7
Jacobs, A.8
De Vriendt, E.9
Guergueltcheva, V.10
Rao, C.V.11
Tournev, I.12
Gondim, F.A.13
D'Hooghe, M.14
Van Gerwen, V.15
Callaerts, P.16
Van Den Bosch, L.17
Timmermans, J.P.18
Robberecht, W.19
Gettemans, J.20
Thevelein, J.M.21
De Jonghe, P.22
Kremensky, I.23
Timmerman, V.24
more..
-
25
-
-
9144242516
-
Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35
-
Jordanova, A., F. P. Thomas, V. Guergueltcheva, I. Tournev, F. A. Gondim, B. Ishpekova, E. De Vriendt, A. Jacobs, I. Litvinenko, N. Ivanova, B. Buzhov, P. De Jonghe, I. Kremensky, and V. Timmerman. 2003. Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35. Am. J. Hum. Genet. 73:1423-1430.
-
(2003)
Am. J. Hum. Genet.
, vol.73
, pp. 1423-1430
-
-
Jordanova, A.1
Thomas, F.P.2
Guergueltcheva, V.3
Tournev, I.4
Gondim, F.A.5
Ishpekova, B.6
De Vriendt, E.7
Jacobs, A.8
Litvinenko, I.9
Ivanova, N.10
Buzhov, B.11
De Jonghe, P.12
Kremensky, I.13
Timmerman, V.14
-
26
-
-
33745246046
-
Molecular genetics of X-linked Charcot-Marie-Tooth disease
-
Kleopa, K. A., and S. S. Scherer. 2006. Molecular genetics of X-linked Charcot-Marie-Tooth disease. Neuromolecular Med. 8:107-122.
-
(2006)
Neuromolecular Med
, vol.8
, pp. 107-122
-
-
Kleopa, K.A.1
Scherer, S.S.2
-
27
-
-
33644777597
-
Development of Drosophila motoneurons: specification and morphology
-
Landgraf, M., and S. Thor. 2006. Development of Drosophila motoneurons: specification and morphology. Semin. Cell Dev. Biol. 17:3-11.
-
(2006)
Semin. Cell Dev. Biol.
, vol.17
, pp. 3-11
-
-
Landgraf, M.1
Thor, S.2
-
28
-
-
73349114324
-
A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease
-
Latour, P., C. Thauvin-Robinet, C. Baudelet-Mery, P. Soichot, V. Cusin, L. Faivre, M. C. Locatelli, M. Mayencon, A. Sarcey, E. Broussolle, W. Camu, A. David, and R. Rousson. 2010. A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease. Am. J. Hum. Genet. 86:77-82.
-
(2010)
Am. J. Hum. Genet.
, vol.86
, pp. 77-82
-
-
Latour, P.1
Thauvin-Robinet, C.2
Baudelet-Mery, C.3
Soichot, P.4
Cusin, V.5
Faivre, L.6
Locatelli, M.C.7
Mayencon, M.8
Sarcey, A.9
Broussolle, E.10
Camu, W.11
David, A.12
Rousson, R.13
-
29
-
-
84862762113
-
Drosophila as a platform to predict the pathogenicity of novel aminoacyl-tRNA synthetase mutations in CMT
-
Leitao-Goncalves, R., B. Ermanoska, A. Jacobs, E. De Vriendt, V. Timmerman, J. R. Lupski, P. Callaerts, and A. Jordanova. 2012. Drosophila as a platform to predict the pathogenicity of novel aminoacyl-tRNA synthetase mutations in CMT. Amino. Acids. 42:1661-1668.
-
(2012)
Amino. Acids.
, vol.42
, pp. 1661-1668
-
-
Leitao-Goncalves, R.1
Ermanoska, B.2
Jacobs, A.3
De Vriendt, E.4
Timmerman, V.5
Lupski, J.R.6
Callaerts, P.7
Jordanova, A.8
-
30
-
-
83655212414
-
The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan
-
Lin, K. P., B. W. Soong, C. C. Yang, L. W. Huang, M. H. Chang, I. H. Lee, A. Antonellis, and Y. C. Lee. 2011. The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan. PLoS One. 6:e29393.
-
(2011)
PLoS One
, vol.6
-
-
Lin, K.P.1
Soong, B.W.2
Yang, C.C.3
Huang, L.W.4
Chang, M.H.5
Lee, I.H.6
Antonellis, A.7
Lee, Y.C.8
-
31
-
-
83655163801
-
Generating neuronal diversity in the Drosophila central nervous system
-
Lin, S., and T. Lee. 2012. Generating neuronal diversity in the Drosophila central nervous system. Dev. Dyn. 241:57-68.
-
(2012)
Dev. Dyn.
, vol.241
, pp. 57-68
-
-
Lin, S.1
Lee, T.2
-
32
-
-
80155144126
-
Induced pluripotent stem cells (iPSCs) and neurological disease modeling: progress and promises
-
Marchetto, M. C., K. J. Brennand, L. F. Boyer, and F. H. Gage. 2011. Induced pluripotent stem cells (iPSCs) and neurological disease modeling: progress and promises. Hum. Mol. Genet. 20:R109-115.
-
(2011)
Hum. Mol. Genet.
, vol.20
-
-
Marchetto, M.C.1
Brennand, K.J.2
Boyer, L.F.3
Gage, F.H.4
-
34
-
-
84857685584
-
A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N)
-
McLaughlin, H. M., R. Sakaguchi, W. Giblin, T.E. Wilson, L. Biesecker, J.R. Lupski, K. Talbot, J. M. Vance, S. Zuchner, Y.C. Lee, M. Kennerson, Y. M. Hou, G. Nicholson, and A. Antonellis. 2012. A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N). Hum. Mutat. 33:244-253.
-
(2012)
Hum. Mutat.
, vol.33
, pp. 244-253
-
-
McLaughlin, H.M.1
Sakaguchi, R.2
Giblin, W.3
Wilson, T.E.4
Biesecker, L.5
Lupski, J.R.6
Talbot, K.7
Vance, J.M.8
Zuchner, S.9
Lee, Y.C.10
Kennerson, M.11
Hou, Y.M.12
Nicholson, G.13
Antonellis, A.14
-
35
-
-
77957724879
-
Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy
-
McLaughlin, H. M., R. Sakaguchi, C. Liu, T. Igarashi, D. Pehlivan, K. Chu, R. Iyer, P. Cruz, P. F. Cherukuri, N. F. Hansen, J. C. Mullikin, L. G. Biesecker, T. E. Wilson, V. Ionasescu, G. Nicholson, C. Searby, K. Talbot, J. M. Vance, S. Zuchner, K. Szigeti, J. R. Lupski, Y. M. Hou, E. D. Green, and A. Antonellis. 2010. Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. Am. J. Hum. Genet. 87:560-566.
-
(2010)
Am. J. Hum. Genet.
, vol.87
, pp. 560-566
-
-
McLaughlin, H.M.1
Sakaguchi, R.2
Liu, C.3
Igarashi, T.4
Pehlivan, D.5
Chu, K.6
Iyer, R.7
Cruz, P.8
Cherukuri, P.F.9
Hansen, N.F.10
Mullikin, J.C.11
Biesecker, L.G.12
Wilson, T.E.13
Ionasescu, V.14
Nicholson, G.15
Searby, C.16
Talbot, K.17
Vance, J.M.18
Zuchner, S.19
Szigeti, K.20
Lupski, J.R.21
Hou, Y.M.22
Green, E.D.23
Antonellis, A.24
more..
-
36
-
-
84855289563
-
Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels
-
Motley, W. W., K. L. Seburn, M. H. Nawaz, K. E. Miers, J. Cheng, A. Antonellis, E. D. Green, K. Talbot, X. L. Yang, K. H. Fischbeck, and R. W. Burgess. 2011. Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels. PLoS Genet. 7:e1002399.
-
(2011)
PLoS Genet
, vol.7
-
-
Motley, W.W.1
Seburn, K.L.2
Nawaz, M.H.3
Miers, K.E.4
Cheng, J.5
Antonellis, A.6
Green, E.D.7
Talbot, K.8
Yang, X.L.9
Fischbeck, K.H.10
Burgess, R.W.11
-
37
-
-
34547478151
-
Charcot-Marie-Tooth disease-associated mutant tRNA synthetases linked to altered dimer interface and neurite distribution defect
-
Nangle, L. A., W. Zhang, W. Xie, X.L. Yang, and P. Schimmel. 2007. Charcot-Marie-Tooth disease-associated mutant tRNA synthetases linked to altered dimer interface and neurite distribution defect. Proc. Natl. Acad. Sci. U S A. 104:11239-11244.
-
(2007)
Proc. Natl. Acad. Sci. U S A.
, vol.104
, pp. 11239-11244
-
-
Nangle, L.A.1
Zhang, W.2
Xie, W.3
Yang, X.L.4
Schimmel, P.5
-
38
-
-
33745250497
-
Intermediate forms of Charcot-Marie-Tooth neuropathy: a review
-
Nicholson, G., and S. Myers. 2006. Intermediate forms of Charcot-Marie-Tooth neuropathy: a review. Neuromolecular Med. 8:123-130.
-
(2006)
Neuromolecular Med
, vol.8
, pp. 123-130
-
-
Nicholson, G.1
Myers, S.2
-
39
-
-
67649390851
-
Diagnosis, natural history, and management of Charcot-Marie-Tooth disease
-
Pareyson, D., and C. Marchesi. 2009. Diagnosis, natural history, and management of Charcot-Marie-Tooth disease. Lancet Neurol. 8:654-667.
-
(2009)
Lancet Neurol
, vol.8
, pp. 654-667
-
-
Pareyson, D.1
Marchesi, C.2
-
42
-
-
78650966907
-
Comparing peripheral glial cell differentiation in Drosophila and vertebrates
-
Rodrigues, F., I. Schmidt, and C. Klambt. 2011. Comparing peripheral glial cell differentiation in Drosophila and vertebrates. Cell Mol. Life Sci. 68:55-69.
-
(2011)
Cell Mol. Life Sci.
, vol.68
, pp. 55-69
-
-
Rodrigues, F.1
Schmidt, I.2
Klambt, C.3
-
43
-
-
35648990564
-
Further evidence for genetic heterogeneity of distal HMN type V CMT2 with predominant hand involvement and Silver syndrome
-
Rohkamm, B., M. M. Reilly, H. Lochmuller, B. Schlotter-Weigel, N. Barisic, L. Schols, G. Nicholson, D. Pareyson, M. Laura, A.R. Janecke, G. Miltenberger-Miltenyi, E. John, C. Fischer, F. Grill, W. Wakeling, M. Davis, T. R. Pieber, and M. Auer-Grumbach. 2007. Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome. J. Neurol. Sci. 263:100-106.
-
(2007)
J. Neurol. Sci.
, vol.263
, pp. 100-106
-
-
Rohkamm, B.1
Reilly, M.M.2
Lochmuller, H.3
Schlotter-Weigel, B.4
Barisic, N.5
Schols, L.6
Nicholson, G.7
Pareyson, D.8
Laura, M.9
Janecke, A.R.10
Miltenberger-Miltenyi, G.11
John, E.12
Fischer, C.13
Grill, F.14
Wakeling, W.15
Davis, M.16
Pieber, T.R.17
Auer-Grumbach, M.18
-
44
-
-
33748545328
-
An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model
-
Seburn, K. L., L. A. Nangle, G. A. Cox, P. Schimmel, and R. W. Burgess. 2006. An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model. Neuron. 51:715-726.
-
(2006)
Neuron
, vol.51
, pp. 715-726
-
-
Seburn, K.L.1
Nangle, L.A.2
Cox, G.A.3
Schimmel, P.4
Burgess, R.W.5
-
45
-
-
38549095461
-
Organization and function of the blood-brain barrier in Drosophila
-
Stork, T., D. Engelen, A. Krudewig, M. Silies, R. J. Bainton, and C. Klambt. 2008. Organization and function of the blood-brain barrier in Drosophila. J. Neurosci. 28:587-597.
-
(2008)
J. Neurosci.
, vol.28
, pp. 587-597
-
-
Stork, T.1
Engelen, D.2
Krudewig, A.3
Silies, M.4
Bainton, R.J.5
Klambt, C.6
-
46
-
-
67650882733
-
Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot-Marie-Tooth neuropathy
-
Storkebaum, E., R. Leitao-Goncalves, T. Godenschwege, L. Nangle, M. Mejia, I. Bosmans, T. Ooms, A. Jacobs, P. Van Dijck, X. L. Yang, P. Schimmel, K. Norga, V. Timmerman, P. Callaerts, and A. Jordanova. 2009. Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot-Marie-Tooth neuropathy. Proc. Natl. Acad. Sci. U S A. 106:11782-11787.
-
(2009)
Proc. Natl. Acad. Sci. U S A.
, vol.106
, pp. 11782-11787
-
-
Storkebaum, E.1
Leitao-Goncalves, R.2
Godenschwege, T.3
Nangle, L.4
Mejia, M.5
Bosmans, I.6
Ooms, T.7
Jacobs, A.8
Van Dijck, P.9
Yang, X.L.10
Schimmel, P.11
Norga, K.12
Timmerman, V.13
Callaerts, P.14
Jordanova, A.15
-
47
-
-
78751702871
-
An assessment of mechanisms underlying peripheral axonal degeneration caused by aminoacyl-tRNA synthetase mutations
-
Stum, M., H. M. McLaughlin, E. L. Kleinbrink, K. E. Miers, S.L. Ackerman, K. L. Seburn, A. Antonellis, and R. W. Burgess. 2011. An assessment of mechanisms underlying peripheral axonal degeneration caused by aminoacyl-tRNA synthetase mutations. Mol. Cell Neurosci. 46:432-443.
-
(2011)
Mol. Cell Neurosci.
, vol.46
, pp. 432-443
-
-
Stum, M.1
McLaughlin, H.M.2
Kleinbrink, E.L.3
Miers, K.E.4
Ackerman, S.L.5
Seburn, K.L.6
Antonellis, A.7
Burgess, R.W.8
-
48
-
-
0034286937
-
Metamorphosis in drosophila and other insects: the fate of neurons throughout the stages
-
Tissot, M., and R.F. Stocker. 2000. Metamorphosis in drosophila and other insects: the fate of neurons throughout the stages. Prog. Neurobiol. 62:89-111.
-
(2000)
Prog. Neurobiol.
, vol.62
, pp. 89-111
-
-
Tissot, M.1
Stocker, R.F.2
-
49
-
-
14344263852
-
Emerging technologies for gene manipulation in Drosophila melanogaster
-
Venken, K. J., and H. J. Bellen. 2005. Emerging technologies for gene manipulation in Drosophila melanogaster. Nat. Rev. Genet. 6:167-178.
-
(2005)
Nat. Rev. Genet.
, vol.6
, pp. 167-178
-
-
Venken, K.J.1
Bellen, H.J.2
-
50
-
-
84892110644
-
A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo
-
Vester, A., G. Velez-Ruiz, H. M. McLaughlin, J. R. Lupski, K. Talbot, J.M. Vance, S. Zuchner, R. H. Roda, K. H. Fischbeck, L.G. Biesecker, G. Nicholson, A. Beg, and A. Antonellis. 2012. A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo. Hum. Mutat.
-
(2012)
Hum. Mutat.
-
-
Vester, A.1
Velez-Ruiz, G.2
McLaughlin, H.M.3
Lupski, J.R.4
Talbot, K.5
Vance, J.M.6
Zuchner, S.7
Roda, R.H.8
Fischbeck, K.H.9
Biesecker, L.G.10
Nicholson, G.11
Beg, A.12
Antonellis, A.13
-
51
-
-
34547224267
-
Long-range structural effects of a Charcot-Marie-Tooth disease-causing mutation in human glycyl-tRNA synthetase
-
Xie, W., L. A. Nangle, W. Zhang, P. Schimmel, and X. L. Yang. 2007. Long-range structural effects of a Charcot-Marie-Tooth disease-causing mutation in human glycyl-tRNA synthetase. Proc. Natl. Acad. Sci. U S A. 104:9976-9981.
-
(2007)
Proc. Natl. Acad. Sci. U S A.
, vol.104
, pp. 9976-9981
-
-
Xie, W.1
Nangle, L.A.2
Zhang, W.3
Schimmel, P.4
Yang, X.L.5
-
52
-
-
84863615583
-
Alanyl-tRNA synthetase mutation in a family with dominant distal hereditary motor neuropathy
-
Zhao, Z., A. Hashiguchi, J. Hu, Y. Sakiyama, Y. Okamoto, S. Tokunaga, L. Zhu, H. Shen, and H. Takashima. 2012. Alanyl-tRNA synthetase mutation in a family with dominant distal hereditary motor neuropathy. Neurology. 78:1644-1649.
-
(2012)
Neurology
, vol.78
, pp. 1644-1649
-
-
Zhao, Z.1
Hashiguchi, A.2
Hu, J.3
Sakiyama, Y.4
Okamoto, Y.5
Tokunaga, S.6
Zhu, L.7
Shen, H.8
Takashima, H.9
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