-
1
-
-
0018942439
-
The clinical features of hereditary motor and sensory neuropathy types I and II
-
Harding AE, Thomas PK. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 1980; 103:259-280. (Pubitemid 10046623)
-
(1980)
Brain
, vol.103
, Issue.2
, pp. 259-280
-
-
Harding, A.E.1
Thomas, P.K.2
-
2
-
-
0018949405
-
Genetic aspects of hereditary motor and sensory neuropathy (types I and II)
-
Harding AE, Thomas PK. Genetic aspects of hereditary motor and sensory neuropathy (types I and II). J Med Genet 1980; 17:329-336. (Pubitemid 10018613)
-
(1980)
Journal of Medical Genetics
, vol.17
, Issue.5
, pp. 329-336
-
-
Harding, A.E.1
Thomas, P.K.2
-
3
-
-
0014301112
-
Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. II. Neurologic, genetic, and electrophysiologic findings in various neuronal degenerations
-
Dyck PJ, Lambert EH. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. II. Neurologic, genetic, and electrophysiologic findings in various neuronal degenerations. Arch Neurol 1968; 18:619-625.
-
(1968)
Arch Neurol
, vol.18
, pp. 619-625
-
-
Dyck, P.J.1
Lambert, E.H.2
-
4
-
-
0014301249
-
Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies
-
Dyck PJ, Lambert EH. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies. Arch Neurol 1968; 18:603-618.
-
(1968)
Arch Neurol
, vol.18
, pp. 603-618
-
-
Dyck, P.J.1
Lambert, E.H.2
-
5
-
-
72449140657
-
Diagnosis and new treatments in genetic neuropathies
-
Reilly MM, Shy ME. Diagnosis and new treatments in genetic neuropathies. J Neurol Neurosurg Psychiatry 2009; 80:1304-1314.
-
(2009)
J Neurol Neurosurg Psychiatry
, vol.80
, pp. 1304-1314
-
-
Reilly, M.M.1
Shy, M.E.2
-
6
-
-
0031943222
-
Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies
-
DOI 10.1038/ng0498-382
-
Warner LE, Mancias P, Butler IJ, et al. Mutations in the early growth response (EGR2) gene are associated with hereditary myelinopathies. Nat Genet 1998; 18:382-384. (Pubitemid 28158170)
-
(1998)
Nature Genetics
, vol.18
, Issue.4
, pp. 382-384
-
-
Warner, L.E.1
Mancias, P.2
Butler, I.J.3
McDonald, C.M.4
Keppen, L.5
Koob, K.G.6
Lupski, J.R.7
-
7
-
-
0027984497
-
Krox-20 controls myelination in the peripheral nervous system
-
DOI 10.1038/371796a0
-
Topilko P, Schneider-Maunoury S, Levi G, et al. Krox-20 controls myelination in the peripheral nervous system. Nature 1994; 371:796-799. (Pubitemid 24333867)
-
(1994)
Nature
, vol.371
, Issue.6500
, pp. 796-799
-
-
Topilko, P.1
Schneider-Maunoury, S.2
Levi, G.3
Baron-Van Evercooren, A.4
Younes Chennoufi, A.B.5
Seitanidou, T.6
Babinet, C.7
Charnay, P.8
-
8
-
-
18544385024
-
Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21
-
Baxter RV, Ben Othmane K, Rochelle JM, et al. Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nat Genet 2002; 30:21-22.
-
(2002)
Nat Genet
, vol.30
, pp. 21-22
-
-
Baxter, R.V.1
Ben Othmane, K.2
Rochelle, J.M.3
-
9
-
-
18544388962
-
The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease
-
Cuesta A, Pedrola L, Sevilla T, et al. The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. Nat Genet 2002; 30:22-25.
-
(2002)
Nat Genet
, vol.30
, pp. 22-25
-
-
Cuesta, A.1
Pedrola, L.2
Sevilla, T.3
-
10
-
-
25444514731
-
Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: New implications for Charcot-Marie-Tooth disease
-
DOI 10.1083/jcb.200507087
-
Niemann A, Ruegg M, La Padula V, et al. Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease. J Cell Biol 2005; 170:1067-1078. (Pubitemid 41362639)
-
(2005)
Journal of Cell Biology
, vol.170
, Issue.7
, pp. 1067-1078
-
-
Niemann, A.1
Ruegg, M.2
La Padula, V.3
Schenone, A.4
Suter, U.5
-
11
-
-
42349110537
-
Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A disease
-
DOI 10.1111/j.1582-4934.2007.00158.x
-
Pedrola L, Espert A, Valdes-Sanchez T, et al. Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A disease. J Cell Mol Med 2008; 12:679-689. (Pubitemid 351555145)
-
(2008)
Journal of Cellular and Molecular Medicine
, vol.12
, Issue.2
, pp. 679-689
-
-
Pedrola, L.1
Espert, A.2
Valdes-Sanchez, T.3
Sanchez-Piris, M.4
Sirkowski, E.E.5
Scherer, S.S.6
Farinas, I.7
Palau, F.8
-
12
-
-
17744376804
-
GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria
-
DOI 10.1093/hmg/ddi121
-
Pedrola L, Espert A, Wu X, et al. GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria. Hum Mol Genet 2005; 14:1087-1094. (Pubitemid 40575884)
-
(2005)
Human Molecular Genetics
, vol.14
, Issue.8
, pp. 1087-1094
-
-
Pedrola, L.1
Espert, A.2
Wu, X.3
Claramunt, R.4
Shy, M.E.5
Palau, F.6
-
13
-
-
2442589922
-
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
-
DOI 10.1038/ng1341
-
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. (Pubitemid 38620027)
-
(2004)
Nature Genetics
, vol.36
, Issue.5
, pp. 449-451
-
-
Zuchner, S.1
Mersiyanova, I.V.2
Muglia, M.3
Bissar-Tadmouri, N.4
Rochelle, J.5
Dadali, E.L.6
Zappia, M.7
Nelis, E.8
Patitucci, A.9
Senderek, J.10
Parman, Y.11
Evgrafov, O.12
De Jonghe, P.13
Takahashi, Y.14
Tsuji, S.15
Pericak-Vance, M.A.16
Quattrone, A.17
Battologlu, E.18
Polyakov, A.V.19
Timmerman, V.20
Schroder, J.M.21
Vance, J.M.22
more..
-
14
-
-
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. (Pubitemid 36070638)
-
(2003)
Neurology
, vol.60
, Issue.1
, pp. 22-26
-
-
Street, V.A.1
Bennett, C.L.2
Goldy, J.D.3
Shirk, A.J.4
Kleopa, K.A.5
Tempel, B.L.6
Lipe, H.P.7
Scherer, S.S.8
Bird, T.D.9
Chance, P.F.10
-
15
-
-
0037371509
-
Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy
-
DOI 10.1086/367847
-
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. (Pubitemid 36255971)
-
(2003)
American Journal of Human Genetics
, vol.72
, Issue.3
, pp. 722-727
-
-
Verhoeven, K.1
De Jonghe, P.2
Coen, K.3
Verpoorten, N.4
Auer-Grumbach, M.5
Kwon, J.M.6
FitzPatrick, D.7
Schmedding, E.8
De Vriendt, E.9
Jacobs, A.10
Van Gerwen, V.11
Wagner, K.12
Hartung, H.-P.13
Timmerman, V.14
-
16
-
-
0038067742
-
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V
-
DOI 10.1086/375039
-
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. (Pubitemid 36530017)
-
(2003)
American Journal of Human Genetics
, vol.72
, Issue.5
, 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
-
17
-
-
20144366550
-
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease
-
DOI 10.1038/ng1514
-
Zuchner S, Noureddine M, Kennerson M, et al. Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nat Genet 2005; 37:289-294. (Pubitemid 41716256)
-
(2005)
Nature Genetics
, vol.37
, Issue.3
, pp. 289-294
-
-
Zuchner, S.1
Noureddine, M.2
Kennerson, M.3
Verhoeven, K.4
Claeys, K.5
De Jonghe, P.6
Merory, J.7
Oliveira, S.A.8
Speer, M.C.9
Stenger, J.E.10
Walizada, G.11
Zhu, D.12
Pericak-Vance, M.A.13
Nicholson, G.14
Timmerman, V.15
Vance, J.M.16
-
18
-
-
31744448271
-
Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy
-
DOI 10.1038/ng1727, PII NG1727
-
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. (Pubitemid 43177233)
-
(2006)
Nature Genetics
, vol.38
, Issue.2
, 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.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..
-
19
-
-
0034062698
-
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2
-
DOI 10.1038/75542
-
Bolino A, Muglia M, Conforti FL, et al. Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. Nat Genet 2000; 25:17-19. (Pubitemid 30257029)
-
(2000)
Nature Genetics
, vol.25
, Issue.1
, pp. 17-19
-
-
Bolino, A.1
Muglia, M.2
Conforti, F.L.3
LeGuern, E.4
Salih, M.A.M.5
Georgiou, D.-M.6
Christodoulou, K.7
Hausmanowa-Petrusewicz, I.8
Mandich, P.9
Schenone, A.10
Gambardella, A.11
Bono, F.12
Quattrone, A.13
Devoto, M.14
Monaco, A.P.15
-
20
-
-
0038744272
-
Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma
-
DOI 10.1086/375034
-
Azzedine H, Bolino A, Taieb T, et al. Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma. Am J Hum Genet 2003; 72:1141-1153. (Pubitemid 36530002)
-
(2003)
American Journal of Human Genetics
, vol.72
, Issue.5
, pp. 1141-1153
-
-
Azzedine, H.1
Bolino, A.2
Taieb, T.3
Birouk, N.4
Di Duca, M.5
Bouhouche, A.6
Benamou, S.7
Mrabet, A.8
Hammadouche, T.9
Chkili, T.10
Gouider, R.11
Ravazzolo, R.12
Brice, A.13
Laporte, J.14
LeGuern, E.15
-
21
-
-
2442658908
-
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)
-
DOI 10.1086/421054
-
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. (Pubitemid 38669312)
-
(2004)
American Journal of Human Genetics
, vol.74
, Issue.6
, pp. 1128-1135
-
-
Chen, Y.-Z.1
Bennett, C.L.2
Huynh, H.M.3
Blair, I.P.4
Puls, I.5
Irobi, J.6
Dierick, I.7
Abel, A.8
Kennerson, M.L.9
Rabin, B.A.10
Nicholson, G.A.11
Auer-Grumbach, M.12
Wagner, K.13
De Jonghe, P.14
Griffin, J.W.15
Fischbeck, K.H.16
Timmerman, V.17
Cornblath, D.R.18
Chance, P.F.19
-
22
-
-
33745235798
-
Unraveling the genetics of distal hereditary motor neuronopathies
-
Irobi J, Dierick I, Jordanova A, et al. Unraveling the genetics of distal hereditary motor neuronopathies. Neuromolecular Med 2006; 8:131-146.
-
(2006)
Neuromolecular Med
, vol.8
, pp. 131-146
-
-
Irobi, J.1
Dierick, I.2
Jordanova, A.3
-
23
-
-
33745261763
-
Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease
-
Zuchner S, Vance JM. Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease. Neuromolecular Med 2006; 8:63-74.
-
(2006)
Neuromolecular Med
, vol.8
, pp. 63-74
-
-
Zuchner, S.1
Vance, J.M.2
-
24
-
-
79551488413
-
Charcot Marie Tooth (CMT) subtypes and genetic testing strategies
-
Saporta ASD, Sottile SL, Miller LJ, et al. Charcot Marie Tooth (CMT) subtypes and genetic testing strategies. Ann Neurol 2011; 69:22-33.
-
(2011)
Ann Neurol
, vol.69
, pp. 22-33
-
-
Saporta, A.S.D.1
Sottile, S.L.2
Miller, L.J.3
-
25
-
-
27744491193
-
Emerging functions of mammalian mitochondrial fusion and fission
-
DOI 10.1093/hmg/ddi270
-
Chen H, Chan DC. Emerging functions of mammalian mitochondrial fusion and fission. Hum Mol Genet 2005; 14 (Spec 2):R283-R289. (Pubitemid 41631897)
-
(2005)
Human Molecular Genetics
, vol.14
, Issue.SUPPL. 2
-
-
Chen, H.1
Chan, D.C.2
-
26
-
-
22544451586
-
Disruption of fusion results in mitochondrial heterogeneity and dysfunction
-
DOI 10.1074/jbc.M503062200
-
Chen H, Chomyn A, Chan DC. Disruption of fusion results in mitochondrial heterogeneity and dysfunction. J Biol Chem 2005; 280:26185-26192. (Pubitemid 41022214)
-
(2005)
Journal of Biological Chemistry
, vol.280
, Issue.28
, pp. 26185-26192
-
-
Chen, H.1
Chomyn, A.2
Chan, D.C.3
-
27
-
-
35248824214
-
Mitochondria-endoplasmic reticulum choreography: structure and signaling dynamics
-
DOI 10.1016/j.tcb.2007.07.011, PII S0962892407001705
-
Pizzo P, Pozzan T. Mitochondria-endoplasmic reticulum choreography: structure and signaling dynamics. Trends Cell Biol 2007; 17:511-517. (Pubitemid 47562768)
-
(2007)
Trends in Cell Biology
, vol.17
, Issue.10
, pp. 511-517
-
-
Pizzo, P.1
Pozzan, T.2
-
28
-
-
22544465572
-
Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene
-
DOI 10.1212/01.wnl.0000168898.76071.70
-
Lawson VH, Graham BV, Flanigan KM. Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene. Neurology 2005; 65:197-204. (Pubitemid 41022361)
-
(2005)
Neurology
, vol.65
, Issue.2
, pp. 197-204
-
-
Lawson, V.H.1
Graham, B.V.2
Flanigan, K.M.3
-
29
-
-
32044474896
-
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2
-
DOI 10.1002/ana.20797
-
Zuchner S, De Jonghe P, Jordanova A, et al. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann Neurol 2006; 59:276-281. (Pubitemid 43202480)
-
(2006)
Annals of Neurology
, vol.59
, Issue.2
, pp. 276-281
-
-
Zuchner, S.1
De Jonghe, P.2
Jordanova, A.3
Claeys, K.G.4
Guergueltcheva, V.5
Cherninkova, S.6
Hamilton, S.R.7
Van Stavern, G.8
Krajewski, K.M.9
Stajich, J.10
Tournev, I.11
Verhoeven, K.12
Langerhorst, C.T.13
De Visser, M.14
Baas, F.15
Bird, T.16
Timmerman, V.17
Shy, M.18
Vance, J.M.19
-
30
-
-
79957517676
-
MFN2 mutations cause severe phenotypes in most patients with CMT2A
-
Feely SM, Laura M, Siskind CE, et al. MFN2 mutations cause severe phenotypes in most patients with CMT2A. Neurology 2011; 17:1690-1696.
-
(2011)
Neurology
, vol.17
, pp. 1690-1696
-
-
Feely, S.M.1
Laura, M.2
Siskind, C.E.3
-
31
-
-
0035093827
-
SPTLC1 is mutated in hereditary sensory neuropathy, type 1
-
DOI 10.1038/85817
-
Bejaoui K, Wu C, Scheffler MD, et al. SPTLC1 is mutated in hereditary sensory neuropathy, type 1. Nat Genet 2001; 27:261-262. (Pubitemid 32201845)
-
(2001)
Nature Genetics
, vol.27
, Issue.3
, pp. 261-262
-
-
Bejaoui, K.1
Wu, C.2
Scheffler, M.D.3
Haan, G.4
Ashby, P.5
Wu, L.6
De Jong, P.7
Brown Jr., R.H.8
-
32
-
-
0035093829
-
Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I
-
DOI 10.1038/85879
-
Dawkins JL, Hulme DJ, Brahmbhatt SB, et al. Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. Nat Genet 2001; 27:309-312. (Pubitemid 32201853)
-
(2001)
Nature Genetics
, vol.27
, Issue.3
, pp. 309-312
-
-
Dawkins, J.L.1
Hulme, D.J.2
Brahmbhatt, S.B.3
Auer-Grumbach, M.4
Nicholson, G.A.5
-
33
-
-
79952904426
-
TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies
-
Klein CJ, Shi Y, Fecto F, et al. TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies. Neurology 2011; 76:887-894.
-
(2011)
Neurology
, vol.76
, pp. 887-894
-
-
Klein, C.J.1
Shi, Y.2
Fecto, F.3
-
34
-
-
0030011973
-
Genetic heterogeneity in Charcot-Marie-Tooth neuropathy type 2
-
Yoshioka R, Dyck PJ, Chance PF. Genetic heterogeneity in Charcot-Marie-Tooth neuropathy type 2. Neurology 1996; 46:569-571. (Pubitemid 26081356)
-
(1996)
Neurology
, vol.46
, Issue.2
, pp. 569-571
-
-
Yoshioka, R.1
Dyck, P.J.2
Chance, P.F.3
-
35
-
-
75749139617
-
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C
-
Landoure G, Zdebik AA, Martinez TL, et al. Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. Nat Genet 2010; 42:170-174.
-
(2010)
Nat Genet
, vol.42
, pp. 170-174
-
-
Landoure, G.1
Zdebik, A.A.2
Martinez, T.L.3
-
36
-
-
75749083221
-
Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4
-
Deng HX, Klein CJ, Yan J, et al. Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. Nat Genet 2010; 42:165-169.
-
(2010)
Nat Genet
, vol.42
, pp. 165-169
-
-
Deng, H.X.1
Klein, C.J.2
Yan, J.3
-
37
-
-
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, Thauvin-Robinet C, Baudelet-Mery C, et al. 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 2010; 86:77-82.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 77-82
-
-
Latour, P.1
Thauvin-Robinet, C.2
Baudelet-Mery, C.3
-
38
-
-
77957724879
-
Compound heterozygosity for lossof-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy
-
McLaughlin HM, Sakaguchi R, Liu C, et al. Compound heterozygosity for lossof-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
-
39
-
-
52949118056
-
The role of aminoacyl-tRNA synthetases in genetic diseases
-
Antonellis A, Green ED. The role of aminoacyl-tRNA synthetases in genetic diseases. Annu Rev Genomics Hum Genet 2008; 9:87-107.
-
(2008)
Annu Rev Genomics Hum Genet
, vol.9
, pp. 87-107
-
-
Antonellis, A.1
Green, E.D.2
-
40
-
-
35648990564
-
Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome
-
DOI 10.1016/j.jns.2007.06.047, PII S0022510X07004479
-
Rohkamm B, Reilly MM, Lochmuller H, et al. Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome. J Neurol Sci 2007; 263:100-106. (Pubitemid 350029846)
-
(2007)
Journal of the Neurological Sciences
, vol.263
, Issue.1-2
, 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
-
41
-
-
10744229057
-
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome
-
DOI 10.1038/ng1313
-
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. (Pubitemid 38282752)
-
(2004)
Nature Genetics
, vol.36
, Issue.3
, pp. 271-276
-
-
Windpassinger, C.1
Auer-Grumbach, M.2
Irobi, J.3
Patel, H.4
Petek, E.5
Horl, G.6
Malli, R.7
Reed, J.A.8
Dierick, I.9
Verpoorten, N.10
Warner, T.T.11
Proukakis, C.12
Van Den Bergh, P.13
Verellen, C.14
Van Maldergem, L.15
Merlini, L.16
De Jonghe, P.17
Timmerman, V.18
Crosby, A.H.19
Wagner, K.20
more..
-
42
-
-
4344641102
-
The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V
-
DOI 10.1093/brain/awh232
-
Irobi J, Van den Bergh P, Merlini L, et al. The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V. Brain 2004; 127:2124-2130. (Pubitemid 39150269)
-
(2004)
Brain
, vol.127
, Issue.9
, pp. 2124-2130
-
-
Irobi, J.1
Van Den Bergh, P.2
Merlini, L.3
Verellen, C.4
Van Maldergem, L.5
Dierick, I.6
Verpoorten, N.7
Jordanova, A.8
Windpassinger, C.9
De Vriendt, E.10
Van Gerwen, V.11
Auer-Grumbach, M.12
Wagner, K.13
Timmerman, V.14
De Jonghe, P.15
-
43
-
-
0033911099
-
A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene
-
DOI 10.1086/302962
-
Mersiyanova IV, Perepelov AV, Polyakov AV, et al. A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. Am J Hum Genet 2000; 67:37-46. (Pubitemid 30481542)
-
(2000)
American Journal of Human Genetics
, vol.67
, Issue.1
, pp. 37-46
-
-
Mersiyanova, I.V.1
Perepelov, A.V.2
Polyakov, A.V.3
Sitnikov, V.F.4
Dadali, E.L.5
Oparin, R.B.6
Petrin, A.N.7
Evgrafov, O.V.8
-
44
-
-
0027220073
-
Assembly of type IV neuronal intermediate filaments in nonneuronal cells in the absence of preexisting cytoplasmic intermediate filaments
-
Ching GY, Liem RK. Assembly of type IV neuronal intermediate filaments in nonneuronal cells in the absence of pre-existing cytoplasmic intermediate filaments. J Cell Biol 1993; 122:1323-1335. (Pubitemid 23277301)
-
(1993)
Journal of Cell Biology
, vol.122
, Issue.6
, pp. 1323-1335
-
-
Ching, G.Y.1
Liem, R.K.H.2
-
45
-
-
0027293898
-
Neurofilaments are obligate heteropolymers in vivo
-
Lee MK, Xu Z, Wong PC, Cleveland DW. Neurofilaments are obligate heteropolymers in vivo. J Cell Biol 1993; 122:1337-1350. (Pubitemid 23277302)
-
(1993)
Journal of Cell Biology
, vol.122
, Issue.6
, pp. 1337-1350
-
-
Lee, M.K.1
Xu, Z.2
Wong, P.C.3
Cleveland, D.W.4
-
46
-
-
0028283501
-
Intermediate filaments: Structure, dynamics, function, and disease
-
Fuchs E, Weber K. Intermediate filaments: structure, dynamics, function, and disease. Annu Rev Biochem 1994; 63:345-382.
-
(1994)
Annu Rev Biochem
, vol.63
, pp. 345-382
-
-
Fuchs, E.1
Weber, K.2
-
47
-
-
1942473714
-
Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E
-
Fabrizi GM, Cavallaro T, Angiari C, et al. Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E. Neurology 2004; 62:1429-1431. (Pubitemid 38526066)
-
(2004)
Neurology
, vol.62
, Issue.8
, pp. 1429-1431
-
-
Fabrizi, G.M.1
Cavallaro, T.2
Angiari, C.3
Bertolasi, L.4
Cabrini, I.5
Ferrarini, M.6
Rizzuto, N.7
-
48
-
-
33846601355
-
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton
-
DOI 10.1093/brain/awl284
-
Fabrizi GM, Cavallaro T, Angiari C, et al. Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. Brain 2007; 130:394-403. (Pubitemid 46181093)
-
(2007)
Brain
, vol.130
, Issue.2
, pp. 394-403
-
-
Fabrizi, G.M.1
Cavallaro, T.2
Angiari, C.3
Cabrini, I.4
Taioli, F.5
Malerba, G.6
Bertolasi, L.7
Rizzuto, N.8
-
49
-
-
33644771266
-
Aggregate formation and phosphorylation of neurofilament-L Pro22 Charcot-Marie-Tooth disease mutants
-
DOI 10.1093/hmg/ddl011
-
Sasaki T, Gotow T, Shiozaki M, et al. Aggregate formation and phosphorylation of neurofilament-L Pro22 Charcot-Marie-Tooth disease mutants. Hum Mol Genet 2006; 15:943-952. (Pubitemid 43338235)
-
(2006)
Human Molecular Genetics
, vol.15
, Issue.6
, pp. 943-952
-
-
Sasaki, T.1
Gotow, T.2
Shiozaki, M.3
Sakaue, F.4
Saito, T.5
Julien, J.-P.6
Uchiyama, Y.7
Hisanaga, S.-I.8
-
50
-
-
0037370894
-
Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease
-
DOI 10.1093/brain/awg059
-
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. (Pubitemid 36240860)
-
(2003)
Brain
, vol.126
, Issue.3
, pp. 590-597
-
-
Jordanova, A.1
De Jonghe, P.2
Boerkoel, C.F.3
Takashima, H.4
De Vriendt, E.5
Ceuterick, C.6
Martin, J.-J.7
Butler, I.J.8
Mancias, P.9
Papasozomenos, S.Ch.10
Terespolsky, D.11
Potocki, L.12
Brown, C.W.13
Shy, M.14
Rita, D.A.15
Tournev, I.16
Kremensky, I.17
Lupski, J.R.18
Timmerman, V.19
-
51
-
-
0024074053
-
Unwrapping the genes of myelin
-
Lemke G. Unwrapping the genes of myelin. Neuron 1988; 1:535-543.
-
(1988)
Neuron
, vol.1
, pp. 535-543
-
-
Lemke, G.1
-
52
-
-
0021849731
-
Isolation and sequence of a cDNA encoding the major structural protein of peripheral myelin
-
Lemke G, Axel R. Isolation and sequence of a cDNA encoding the major structural protein of peripheral myelin. Cell 1985; 40:501-508. (Pubitemid 15076567)
-
(1985)
Cell
, vol.40
, Issue.3
, pp. 501-508
-
-
Lemke, G.1
Axel, R.2
-
53
-
-
0030246987
-
0, the major structural protein of peripheral nerve myelin
-
DOI 10.1016/S0896-6273(00)80176-2
-
Shapiro L, Doyle JP, Hensley P, et al. Crystal structure of the extracellular domain from P0, the major structural protein of peripheral nerve myelin. Neuron 1996; 17:435-449. (Pubitemid 26322215)
-
(1996)
Neuron
, vol.17
, Issue.3
, pp. 435-449
-
-
Shapiro, L.1
Doyle, J.P.2
Hensley, P.3
Colman, D.R.4
Hendrickson, W.A.5
-
54
-
-
0027221141
-
0 gene
-
DOI 10.1038/ng0993-31
-
Hayasaka K, Himoro M, Sato W, et al. Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene. Nat Genet 1993; 5:31-34. (Pubitemid 23261514)
-
(1993)
Nature Genetics
, vol.5
, Issue.1
, pp. 31-34
-
-
Hayasaka, K.1
Himoro, M.2
Sato, W.3
Takada, G.4
Uyemura, K.5
Shimizu, N.6
Bird, T.D.7
Conneally, P.M.8
Chance, P.F.9
-
55
-
-
10744221158
-
Phenotypic clustering in MPZ mutations
-
DOI 10.1093/brain/awh048
-
Shy ME, Jani A, Krajewski KM, et al. Phenotypic clustering in MPZ mutations. Brain 2004; 127:371-384. (Pubitemid 38160322)
-
(2004)
Brain
, vol.127
, Issue.2
, pp. 371-384
-
-
Shy, M.E.1
Jani, A.2
Krajewski, K.3
Grandis, M.4
Lewis, R.A.5
Li, J.6
Shy, R.R.7
Balsamo, J.8
Lilien, J.9
Garbern, J.Y.10
Kamholz, J.11
-
56
-
-
0032949034
-
The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype
-
DOI 10.1093/brain/122.2.281
-
De Jonghe P, Timmerman V, Ceuterick C, et al. The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. Brain 1999; 122 (Pt 2):281-290. (Pubitemid 29067210)
-
(1999)
Brain
, vol.122
, Issue.2
, pp. 281-290
-
-
De Jonghe, P.1
Timmerman, V.2
Ceuterick, C.3
Nelis, E.4
De Vriendt, E.5
Lofgren, A.6
Vercruyssen, A.7
Verellen, C.8
Van Maldergem, L.9
Martin, J.-J.10
Van Broeckhoven, C.11
-
57
-
-
33746854437
-
Major myelin protein gene (P0) mutation causes a novel form of axonal degeneration
-
DOI 10.1002/cne.21051
-
Li J, Bai Y, Ianakova E, et al. Major myelin protein gene (P0) mutation causes a novel form of axonal degeneration. J Comp Neurol 2006; 498:252-265. (Pubitemid 44182464)
-
(2006)
Journal of Comparative Neurology
, vol.498
, Issue.2
, pp. 252-265
-
-
Li, J.1
Bai, Y.2
Ianakova, E.3
Grandis, M.4
Uchwat, F.5
Trostinskaia, A.6
Krajewski, K.M.7
Garbern, J.8
Kupsky, W.J.9
Shy, M.E.10
-
58
-
-
0033921060
-
Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A
-
Krajewski KM, Lewis RA, Fuerst DR, et al. Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A. Brain 2000; 123:1516-1527. (Pubitemid 30420950)
-
(2000)
Brain
, vol.123
, Issue.7
, pp. 1516-1527
-
-
Krajewski, K.M.1
Lewis, R.A.2
Fuerst, D.R.3
Turansky, C.4
Hinderer, S.R.5
Garbern, J.6
Kamholz, J.7
Shy, M.E.8
-
59
-
-
0001768884
-
Inherited neuronal degeneration and atrophy affecting peripheral motor, sensory and autonomic neurons
-
Dyck PJ TP, Lambert EH, editors Philadelphia: Saunders;
-
Dyck PJ. Inherited neuronal degeneration and atrophy affecting peripheral motor, sensory and autonomic neurons. In: Dyck PJ TP, Lambert EH, editors. Peripheral neuropathy. Philadelphia: Saunders; 1975. p. 825.
-
(1975)
Peripheral Neuropathy
, pp. 825
-
-
Dyck, P.J.1
-
61
-
-
0015271541
-
Giant axonal neuropathy: A unique case with segmental neurofilamentous masses
-
Asbury AK, Gale MK, Cox SC, et al. Giant axonal neuropathy: a unique case with segmental neurofilamentous masses. Acta Neuropathol 1972; 20:237-247.
-
(1972)
Acta Neuropathol
, vol.20
, pp. 237-247
-
-
Asbury, A.K.1
Gale, M.K.2
Cox, S.C.3
-
63
-
-
0033763056
-
The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy
-
Bomont P, Cavalier L, Blondeau F, et al. The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy. Nat Genet 2000; 26:370-374.
-
(2000)
Nat Genet
, vol.26
, pp. 370-374
-
-
Bomont, P.1
Cavalier, L.2
Blondeau, F.3
-
64
-
-
0037161247
-
Giant axonal neuropathy (GAN): Case report and two novel mutations in the gigaxonin gene
-
Kuhlenbaumer G, Young P, Oberwittler C, et al. Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene. Neurology 2002; 58:1273-1276. (Pubitemid 34411874)
-
(2002)
Neurology
, vol.58
, Issue.8
, pp. 1273-1276
-
-
Kuhlenbaumer, G.1
Young, P.2
Oberwittler, C.3
Hunermund, G.4
Schirmacher, A.5
Domschke, K.6
Ringelstein, B.7
Stogbauer, F.8
-
65
-
-
8544277232
-
The BACK domain in BTB-kelch proteins
-
DOI 10.1016/j.tibs.2004.10.003, PII S0968000404002634
-
Stogios PJ, Prive GG. The BACK domain in BTB-kelch proteins. Trends Biochem Sci 2004; 29:634-637. (Pubitemid 39491260)
-
(2004)
Trends in Biochemical Sciences
, vol.29
, Issue.12
, pp. 634-637
-
-
Stogios, P.J.1
Prive, G.G.2
-
66
-
-
2642563501
-
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy
-
DOI 10.1038/ng1354
-
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. (Pubitemid 38715987)
-
(2004)
Nature Genetics
, vol.36
, Issue.6
, pp. 602-606
-
-
Evgrafov, O.V.1
Mersiyanova, I.2
Irobi, J.3
Van Den Bosch, L.V.4
Dierick, I.5
Leung, C.L.6
Schagina, O.7
Verpoorten, N.8
Van Impe, K.9
Fedotov, V.10
Dadali, E.11
Auer-Grumbach, M.12
Windpassinger, C.13
Wagner, K.14
Mitrovic, Z.15
Hilton-Jones, D.16
Talbot, K.17
Martin, J.-J.18
Vasserman, N.19
Tverskaya, S.20
Polyakov, A.21
Liem, R.K.H.22
Gettemans, J.23
Robberecht, W.24
De Jonghe, P.25
Timmerman, V.26
more..
-
67
-
-
2642539919
-
Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy
-
DOI 10.1038/ng1328
-
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. (Pubitemid 38715986)
-
(2004)
Nature Genetics
, vol.36
, Issue.6
, pp. 597-601
-
-
Irobi, J.1
Van Impe, K.2
Seeman, P.3
Jordanova, A.4
Dierick, I.5
Verpoorten, N.6
Michalik, A.7
De Vriendt, E.8
Jacobs, A.9
Van Gerwen, V.10
Vennekens, K.11
Mazanec, R.12
Tournev, I.13
Hilton-Jones, D.14
Talbot, K.15
Kremensky, I.16
Van Den Bosch, L.17
Robberecht, W.18
Vandekerckhove, J.19
Van Broeckhoven, C.20
Gettemans, J.21
De Jonghe, P.22
Timmerman, V.23
more..
-
68
-
-
80052486651
-
The small heat shcok proteins: Cellular functions and mutations causing neurodegeneration
-
O'Connor AWaV, editor Springer Science-Business Media; LLC2011
-
d'Ydewalle C, Krishnan J, Timmerman V, Van Den Bosch L. The small heat shcok proteins: cellular functions and mutations causing neurodegeneration. In: O'Connor AWaV, editor. Folding for the synapse. Springer Science-Business Media; LLC2011, 2011. pp. 49-76.
-
(2011)
Folding for the Synapse
, pp. 49-76
-
-
D'Ydewalle, C.1
Krishnan, J.2
Timmerman, V.3
Van Den Bosch, L.4
-
69
-
-
17944374029
-
Mutations in the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1
-
DOI 10.1038/ng703
-
Grohmann K, Schuelke M, Diers A, et al. Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Nat Genet 2001; 29:75-77. (Pubitemid 32801813)
-
(2001)
Nature Genetics
, vol.29
, Issue.1
, pp. 75-77
-
-
Grohmann, K.1
Schuelke, M.2
Diers, A.3
Hoffmann, K.4
Lucke, B.5
Adams, C.6
Bertini, E.7
Leonhardt-Horti, H.8
Muntoni, F.9
Ouvrier, R.10
Pfeufer, A.11
Rossi, R.12
Van Maldergem, L.13
Wilmshurst, J.M.14
Wienker, T.F.15
Sendtner, M.16
Rudnik-Schoneborn, S.17
Zerres, K.18
Hubner, C.19
-
70
-
-
20944448536
-
Distal spinal and bulbar muscular atrophy caused by dynactin mutation
-
DOI 10.1002/ana.20468
-
Puls I, Oh SJ, Sumner CJ, et al. Distal spinal and bulbar muscular atrophy caused by dynactin mutation. Ann Neurol 2005; 57:687-694. (Pubitemid 40628857)
-
(2005)
Annals of Neurology
, vol.57
, Issue.5
, pp. 687-694
-
-
Puls, I.1
Oh, S.J.2
Sumner, C.J.3
Wallace, K.E.4
Floeter, M.K.5
Mann, E.A.6
Kennedy, W.R.7
Wendelschafer-Crabb, G.8
Vortmeyer, A.9
Powers, R.10
Finnegan, K.11
Holzbaur, E.L.F.12
Fischbeck, K.H.13
Ludlow, C.L.14
-
71
-
-
20244374986
-
Genetics of Charcot-Marie-Tooth disease type 4A: Mutations, inheritance, phenotypic variability, and founder effect
-
DOI 10.1136/jmg.2004.022178
-
Claramunt R, Pedrola L, Sevilla T, et al. Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect. J Med Genet 2005; 42:358-365. (Pubitemid 40523959)
-
(2005)
Journal of Medical Genetics
, vol.42
, Issue.4
, pp. 358-365
-
-
Claramunt, R.1
Pedrola, L.2
Sevilla, T.3
Lopez De Munain, A.4
Berciano, J.5
Cuesta, A.6
Sanchez-Navarro, B.7
Millan, J.M.8
Saifi, G.M.9
Lupski, J.R.10
Vilchez, J.J.11
Espinos, C.12
Palau, F.13
-
72
-
-
41549131695
-
A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease
-
Chung KW, Kim SM, Sunwoo IN, et al. A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease. J Hum Genet 2008; 53:360-364.
-
(2008)
J Hum Genet
, vol.53
, pp. 360-364
-
-
Chung, K.W.1
Kim, S.M.2
Sunwoo, I.N.3
-
73
-
-
34248562588
-
Phenotype of Charcot-Marie-Tooth disease Type 2
-
DOI 10.1212/01.wnl.0000263479.97552.94, PII 0000611420070515000004
-
Bienfait HM, Baas F, Koelman JH, et al. Phenotype of Charcot-Marie-Tooth disease type 2. Neurology 2007; 68:1658-1667. (Pubitemid 46763252)
-
(2007)
Neurology
, vol.68
, Issue.20
, pp. 1658-1667
-
-
Bienfait, H.M.E.1
Baas, F.2
Koelman, J.H.T.M.3
De Haan, R.J.4
Van Engelen, B.G.M.5
Gabreels-Festen, A.A.W.M.6
Ongerboer De Visser, B.W.7
Meggouh, F.8
Weterman, M.A.J.9
De Jonghe, P.10
Timmerman, V.11
De Visser, M.12
-
74
-
-
18544388962
-
The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease
-
Cuesta A, Pedrola L, Sevilla T, et al. The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. Nat Genet 2001; 30:22-25.
-
(2001)
Nat Genet
, vol.30
, pp. 22-25
-
-
Cuesta, A.1
Pedrola, L.2
Sevilla, T.3
-
75
-
-
70350348361
-
GDAP1 mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance
-
Niemann A, Wagner KM, Ruegg M, Suter U. GDAP1 mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance. Neurobiol Dis 2009; 36:509-520.
-
(2009)
Neurobiol Dis
, vol.36
, pp. 509-520
-
-
Niemann, A.1
Wagner, K.M.2
Ruegg, M.3
Suter, U.4
-
76
-
-
67650066361
-
Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy
-
Claeys KG, Zuchner S, Kennerson M, et al. Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy. Brain 2009; 132:1741-1752.
-
(2009)
Brain
, vol.132
, pp. 1741-1752
-
-
Claeys, K.G.1
Zuchner, S.2
Kennerson, M.3
-
77
-
-
33745268197
-
Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease
-
Niemann A, Berger P, Suter U. Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease. Neuromolecular Med 2006; 8:217-242.
-
(2006)
Neuromolecular Med
, vol.8
, pp. 217-242
-
-
Niemann, A.1
Berger, P.2
Suter, U.3
-
78
-
-
34447133038
-
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J
-
DOI 10.1038/nature05876, PII NATURE05876
-
Chow CY, Zhang Y, Dowling JJ, et al. Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature 2007; 448:68-72. (Pubitemid 47036999)
-
(2007)
Nature
, vol.448
, Issue.7149
, pp. 68-72
-
-
Chow, C.Y.1
Zhang, Y.2
Dowling, J.J.3
Jin, N.4
Adamska, M.5
Shiga, K.6
Szigeti, K.7
Shy, M.E.8
Li, J.9
Zhang, X.10
Lupski, J.R.11
Weisman, L.S.12
Meisler, M.H.13
-
79
-
-
49449098975
-
Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration
-
Zhang X, Chow CY, Sahenk Z, et al. Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration. Brain 2008; 131:1990-2001.
-
(2008)
Brain
, vol.131
, pp. 1990-2001
-
-
Zhang, X.1
Chow, C.Y.2
Sahenk, Z.3
-
80
-
-
34548221502
-
Core protein machinery for mammalian phosphatidylinositol 3,5-bisphosphate synthesis and turnover that regulates the progression of endosomal transport: Novel Sac phosphatase joins the ArPIKfyve-PIKfyve complex
-
DOI 10.1074/jbc.M611678200
-
Sbrissa D, Ikonomov OC, Fu Z, et al. Core protein machinery for mammalian phosphatidylinositol 3,5-bisphosphate synthesis and turnover that regulates the progression of endosomal transport. Novel Sac phosphatase joins the ArPIKfyve-PIKfyve complex. J Biol Chem 2007; 282:23878-23891. (Pubitemid 47328041)
-
(2007)
Journal of Biological Chemistry
, vol.282
, Issue.33
, pp. 23878-23891
-
-
Sbrissa, D.1
Ikonomov, O.C.2
Fu, Z.3
Ijuin, T.4
Gruenberg, J.5
Takenawa, T.6
Shisheva, A.7
-
81
-
-
33749836234
-
Phosphoinositides in cell regulation and membrane dynamics
-
DOI 10.1038/nature05185, PII NATURE05185
-
Di Paolo G, De Camilli P. Phosphoinositides in cell regulation and membrane dynamics. Nature 2006; 443:651-657. (Pubitemid 44564702)
-
(2006)
Nature
, vol.443
, Issue.7112
, pp. 651-657
-
-
Di Paolo, G.1
De Camilli, P.2
-
82
-
-
0037096759
-
Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1
-
Berger P, Bonneick S, Willi S, et al. Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1. Hum Mol Genet 2002; 11:1569-1579. (Pubitemid 34679257)
-
(2002)
Human Molecular Genetics
, vol.11
, Issue.13
, pp. 1569-1579
-
-
Berger, P.1
Bonneick, S.2
Willi, S.3
Wymann, M.4
Suter, U.5
-
83
-
-
9444266440
-
Disruption of Mtmr2 CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis
-
DOI 10.1083/jcb.200407010
-
Bolino A, Bolis A, Previtali SC, et al. Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis. J Cell Biol 2004; 167:711-721. (Pubitemid 39565151)
-
(2004)
Journal of Cell Biology
, vol.167
, Issue.4
, pp. 711-721
-
-
Bolino, A.1
Bolis, A.2
Previtali, S.C.3
Dina, G.4
Bussini, S.5
Dati, G.6
Amadio, S.7
Del Carro, U.8
Mruk, D.D.9
Feltri, M.L.10
Cheng, C.Y.11
Quattrini, A.12
Wrabetz, L.13
-
84
-
-
79954471977
-
Distinct pathogenic processes between Fig4-deficient motor and sensory neurons
-
Katona I, Zhang X, Bai Y, et al. Distinct pathogenic processes between Fig4-deficient motor and sensory neurons. Eur J Neurosci 2011; 33:1401-1410.
-
(2011)
Eur J Neurosci
, vol.33
, pp. 1401-1410
-
-
Katona, I.1
Zhang, X.2
Bai, Y.3
-
85
-
-
33846952150
-
Complementation between mouse Mfn1 and Mfn2 protects mitochondrial fusion defects caused by CMT2A disease mutations
-
Detmer SA, Chan DC. Complementation between mouse Mfn1 and Mfn2 protects mitochondrial fusion defects caused by CMT2A disease mutations. J Cell Biol 2007; 176:405-414.
-
(2007)
J Cell Biol
, vol.176
, pp. 405-414
-
-
Detmer, S.A.1
Chan, D.C.2
-
86
-
-
23844511092
-
TRPV4 plays an evolutionary conserved role in the transduction of osmotic and mechanical stimuli in live animals
-
DOI 10.1113/jphysiol.2005.088963
-
Liedtke W. TRPV4 plays an evolutionary conserved role in the transduction of osmotic and mechanical stimuli in live animals. J Physiol 2005; 567:53-58. (Pubitemid 41167304)
-
(2005)
Journal of Physiology
, vol.567
, Issue.1
, pp. 53-58
-
-
Liedtke, W.1
|