-
1
-
-
2942705992
-
Genetic testing in neuromuscular disease
-
in press
-
Krajewski KM, Shy ME. Genetic testing in neuromuscular disease. Neurol Clin North Am 2004; 143: in press.
-
(2004)
Neurol Clin North Am
, vol.143
-
-
Krajewski, K.M.1
Shy, M.E.2
-
2
-
-
0141833983
-
Disease mechanisms in inherited neuropathies
-
Suter U, Scherer SS. Disease mechanisms in inherited neuropathies. Nat Rev Neurosci 2003; 4:714-726.
-
(2003)
Nat Rev Neurosci
, vol.4
, pp. 714-726
-
-
Suter, U.1
Scherer, S.S.2
-
3
-
-
2342444048
-
Axonal neuregulin-1 regulates myelin sheath thickness
-
Michailov GV, Sereda MW, Brinkmann BG, et al. Axonal neuregulin-1 regulates myelin sheath thickness. Science 2004; 304:700-703.
-
(2004)
Science
, vol.304
, pp. 700-703
-
-
Michailov, G.V.1
Sereda, M.W.2
Brinkmann, B.G.3
-
4
-
-
0037382240
-
Mutant dynactin in motor neuron disease
-
Puls I, Jonnakuty C, LaMonte BH, et al. Mutant dynactin in motor neuron disease. Nat Genet 2003; 33:455-456.
-
(2003)
Nat Genet
, vol.33
, pp. 455-456
-
-
Puls, I.1
Jonnakuty, C.2
Lamonte, B.H.3
-
5
-
-
2442589922
-
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
-
Epub 4 April 2004
-
Zuchner S, Mersiyanova IV, Muglia M, et al. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet 2004; 36:449-451. Epub 4 April 2004.
-
(2004)
Nat Genet
, vol.36
, pp. 449-451
-
-
Zuchner, S.1
Mersiyanova, I.V.2
Muglia, M.3
-
6
-
-
0037455575
-
Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development
-
Epub 13 January 2003
-
Chen H, Detmer SA, Ewald AJ, et al. Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development. J Cell Biol 2003; 160:189-200. Epub 13 January 2003.
-
(2003)
J Cell Biol
, vol.160
, pp. 189-200
-
-
Chen, H.1
Detmer, S.A.2
Ewald, A.J.3
-
7
-
-
0035369084
-
Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta
-
Zhao C, Takita J, Tanaka Y, et al. Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta. Cell 2001; 105:587-597.
-
(2001)
Cell
, vol.105
, pp. 587-597
-
-
Zhao, C.1
Takita, J.2
Tanaka, Y.3
-
8
-
-
0037435540
-
Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C
-
Street VA, Bennett CL, Goldy JD, et al. Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C. Neurology 2003; 60:22-26.
-
(2003)
Neurology
, vol.60
, pp. 22-26
-
-
Street, V.A.1
Bennett, C.L.2
Goldy, J.D.3
-
9
-
-
0037371509
-
Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy
-
Verhoeven K, De Jonghe P, Coen K, et al. Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy. Am J Hum Genet 2003; 72:722-727.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 722-727
-
-
Verhoeven, K.1
De Jonghe, P.2
Coen, K.3
-
10
-
-
0035975946
-
The Rab7 effector protein RILP controls lysosomal transport by inducing the recruitment of dynein-dynactin motors
-
Jordens I, Fernandez-Borja M, Marsman M, et al. The Rab7 effector protein RILP controls lysosomal transport by inducing the recruitment of dynein-dynactin motors. Curr Biol 2001; 11:1680-1685.
-
(2001)
Curr Biol
, vol.11
, pp. 1680-1685
-
-
Jordens, I.1
Fernandez-Borja, M.2
Marsman, M.3
-
11
-
-
0037322882
-
Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15
-
Senderek J, Bergmann C, Weber S, et al. Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15. Hum Mol Genet 2003; 12:349-356.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 349-356
-
-
Senderek, J.1
Bergmann, C.2
Weber, S.3
-
12
-
-
2642539919
-
Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy
-
Epub 2 May 2004
-
Irobi J, Impe KV, Seeman P, et al. Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. Nat Genet 2004; 36:597-601. Epub 2 May 2004.
-
(2004)
Nat Genet
, vol.36
, pp. 597-601
-
-
Irobi, J.1
Impe, K.V.2
Seeman, P.3
-
13
-
-
2642575701
-
Shocking degeneration
-
Benndorf R, Welsh MJ. Shocking degeneration. Nat Genet 2004; 36:547-548.
-
(2004)
Nat Genet
, vol.36
, pp. 547-548
-
-
Benndorf, R.1
Welsh, M.J.2
-
14
-
-
2642563501
-
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy
-
Epub 2 May 2004
-
Evgrafov OV, Mersiyanova I, Irobi J, et al. Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. Nat Genet 2004; 36:602-606. Epub 2 May 2004.
-
(2004)
Nat Genet
, vol.36
, pp. 602-606
-
-
Evgrafov, O.V.1
Mersiyanova, I.2
Irobi, J.3
-
15
-
-
1342334759
-
Interaction of human HSP22 (HSPB8) with other small heat shock proteins
-
Epub 31 October 2003
-
Sun X, Fontaine JM, Rest JS, et al. Interaction of human HSP22 (HSPB8) with other small heat shock proteins. J Biol Chem 2004; 279:2394-2402. Epub 31 October 2003.
-
(2004)
J Biol Chem
, vol.279
, pp. 2394-2402
-
-
Sun, X.1
Fontaine, J.M.2
Rest, J.S.3
-
16
-
-
0035920143
-
HSP22, a new member of the small heat shock protein superfamily, interacts with mimic of phosphorylated HSP27 ((3D)HSP27)
-
Epub 7 May 2001
-
Benndorf R, Sun X, Gilmont RR, et al. HSP22, a new member of the small heat shock protein superfamily, interacts with mimic of phosphorylated HSP27 ((3D)HSP27). J Biol Chem 2001; 276:26753-26761. Epub 7 May 2001.
-
(2001)
J Biol Chem
, vol.276
, pp. 26753-26761
-
-
Benndorf, R.1
Sun, X.2
Gilmont, R.R.3
-
17
-
-
0037370894
-
Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease
-
Jordanova A, De Jonghe P, Boerkoel CF, et al. Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. Brain 2003; 126:590-597.
-
(2003)
Brain
, vol.126
, pp. 590-597
-
-
Jordanova, A.1
De Jonghe, P.2
Boerkoel, C.F.3
-
18
-
-
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
-
19
-
-
0242522455
-
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy
-
Epub 21 October 2003
-
Senderek J, Bergmann C, Stendel C, et al. Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. Am J Hum Genet 2003; 73:1106-1119. Epub 21 October 2003.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 1106-1119
-
-
Senderek, J.1
Bergmann, C.2
Stendel, C.3
-
20
-
-
2442658908
-
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)
-
Epub 21 April 2004
-
Chen YZ, Bennett CL, Huynh HM, et al. DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am J Hum Genet 2004; 74:1128-1135. Epub 21 April 2004.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 1128-1135
-
-
Chen, Y.Z.1
Bennett, C.L.2
Huynh, H.M.3
-
21
-
-
0344608882
-
Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation
-
Hanemann CO, Bergmann C, Senderek J, et al. Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation. Arch Neurol 2003; 60:605-609.
-
(2003)
Arch Neurol
, vol.60
, pp. 605-609
-
-
Hanemann, C.O.1
Bergmann, C.2
Senderek, J.3
-
22
-
-
0345600908
-
The CNS phenotype of X-linked Charcot-Marie-Tooth disease: More than a peripheral problem
-
Taylor RA, Simon EM, Marks HG, Scherer SS. The CNS phenotype of X-linked Charcot-Marie-Tooth disease: more than a peripheral problem. Neurology 2003; 61:1475-1478.
-
(2003)
Neurology
, vol.61
, pp. 1475-1478
-
-
Taylor, R.A.1
Simon, E.M.2
Marks, H.G.3
Scherer, S.S.4
-
23
-
-
0842304504
-
Loss-of-function phenotype of hereditary neuropathy with liability to pressure palsies
-
Li J, Krajewski KM, Lewis RA, Shy ME. Loss-of-function phenotype of hereditary neuropathy with liability to pressure palsies. Muscle Nerve 2004; 25:205-210.
-
(2004)
Muscle Nerve
, vol.25
, pp. 205-210
-
-
Li, J.1
Krajewski, K.M.2
Lewis, R.A.3
Shy, M.E.4
-
24
-
-
10744221158
-
Phenotypic clustering in MPZ mutations
-
Shy ME, Jani A, Krajewski KM, et al. Phenotypic clustering in MPZ mutations. Brain 2004; 127:371-384.
-
(2004)
Brain
, vol.127
, pp. 371-384
-
-
Shy, M.E.1
Jani, A.2
Krajewski, K.M.3
-
25
-
-
0036157054
-
Charcot-Marie-Tooth disease and related neuropathies: Mutation distribution and genotype-phenotype correlation
-
Boerkoel CF, Takashima H, Garcia CA, et al. Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. Ann Neurol 2002; 51:190-201.
-
(2002)
Ann Neurol
, vol.51
, pp. 190-201
-
-
Boerkoel, C.F.1
Takashima, H.2
Garcia, C.A.3
-
26
-
-
0027374931
-
Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication
-
Wise CA, Garcia CA, Davis SN, et al. Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication. Am J Hum Genet 1993; 53:853-863.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 853-863
-
-
Wise, C.A.1
Garcia, C.A.2
Davis, S.N.3
-
27
-
-
15844393894
-
A transgenic rat model of Charcot-Marie-Tooth disease
-
Sereda M, Griffiths I, Puhlhofer A, et al. A transgenic rat model of Charcot-Marie-Tooth disease. Neuron 1996; 16:1049-1060.
-
(1996)
Neuron
, vol.16
, pp. 1049-1060
-
-
Sereda, M.1
Griffiths, I.2
Puhlhofer, A.3
-
28
-
-
0029843863
-
Impaired differentiation of Schwann cells in transgenic mice with increased PMP22 gene dosage
-
Magyar JP, Martini R, Ruelicke T, et al. Impaired differentiation of Schwann cells in transgenic mice with increased PMP22 gene dosage. J Neurosci 1996; 16:5351-5360.
-
(1996)
J Neurosci
, vol.16
, pp. 5351-5360
-
-
Magyar, J.P.1
Martini, R.2
Ruelicke, T.3
-
29
-
-
0347185347
-
Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A)
-
Sereda MW, Meyer Zu Horste G, Suter U, et al. Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A). Nat Med 2003; 9:1533-1537.
-
(2003)
Nat Med
, vol.9
, pp. 1533-1537
-
-
Sereda, M.W.1
Meyer Zu Horste, G.2
Suter, U.3
-
30
-
-
1942422646
-
Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease
-
Epub 21 March 2004
-
Passage E, Norreel JC, Noack-Fraissignes P, et al. Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease. Nat Med 2004; 10:396-401. Epub 21 March 2004.
-
(2004)
Nat Med
, vol.10
, pp. 396-401
-
-
Passage, E.1
Norreel, J.C.2
Noack-Fraissignes, P.3
|