-
1
-
-
77951213476
-
Increased monomerization of mutant HSPB1 leads to protein hyper-activity in Charcot-Marie-Tooth neuropathy
-
Almeida-Souza L, Goethals S, de Winter V, Dierick I, Gallardo R, Van Durme J, et al. Increased monomerization of mutant HSPB1 leads to protein hyper-activity in Charcot-Marie-Tooth neuropathy. Journal of Biological Chemistry 2010;285(17):12778-86.
-
(2010)
Journal of Biological Chemistry
, vol.285
, Issue.17
, pp. 12778-12786
-
-
Almeida-Souza, L.1
Goethals, S.2
De Winter, V.3
Dierick, I.4
Gallardo, R.5
Van Durme, J.6
-
2
-
-
80054947861
-
Small heat-shock protein HSPB1 mutants stabilize microtubules in Charcot-Marie-Tooth neuropathy
-
Almeida-Souza L, Asselbergh B, d'Ydewalle C, Moonens K, Goethals S, de Winter V, et al. Small heat-shock protein HSPB1 mutants stabilize microtubules in Charcot-Marie-Tooth neuropathy. Journal of Neuroscience 2011;31(43):15320-8.
-
(2011)
Journal of Neuroscience
, vol.31
, Issue.43
, pp. 15320-15328
-
-
Almeida-Souza, L.1
Asselbergh, B.2
D'Ydewalle, C.3
Moonens, K.4
Goethals, S.5
De Winter, V.6
-
4
-
-
33749853624
-
Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons
-
DOI 10.1523/JNEUROSCI.1671-06.2006
-
Antonellis A, Lee-Lin SQ, Wasterlain A, Leo P, Quezado M, Goldfarb LG, et al. Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons. Journal of Neuroscience 2006;26(41):10397-406. (Pubitemid 44564590)
-
(2006)
Journal of Neuroscience
, vol.26
, Issue.41
, 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
-
5
-
-
33846224191
-
Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations
-
DOI 10.1523/JNEUROSCI.4798-06.2007
-
Baloh RH, Schmidt RE, Pestronk A, Milbrandt J. Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from Mitofusin 2 mutations. The Journal of Neuroscience 2007;27(2):422-30. (Pubitemid 46106016)
-
(2007)
Journal of Neuroscience
, vol.27
, Issue.2
, pp. 422-430
-
-
Baloh, R.H.1
Schmidt, R.E.2
Pestronk, A.3
Milbrandt, J.4
-
6
-
-
42149182980
-
Charcot-Marie-Tooth disease: A clinico-genetic confrontation
-
Barisic N, Claeys KG, Sirotkovic-Skerlev M, Löfgren A, Nelis A, De Jonghe P, et al. Charcot-Marie-Tooth disease: a clinico-genetic confrontation. Annals of Human Genetics 2008;72(Pt 3):416-41.
-
(2008)
Annals of Human Genetics
, vol.72
, Issue.PART 3
, pp. 416-441
-
-
Barisic, N.1
Claeys, K.G.2
Sirotkovic-Skerlev, M.3
Löfgren, A.4
Nelis, A.5
De Jonghe, P.6
-
7
-
-
77951896551
-
Expression of Mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A
-
Cartoni R, Arnaud E, Médard JJ, Poirot O, Courvoisier DS, Chrast R, et al. Expression of Mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A. Brain 2010;133(Pt 5):1460-9.
-
(2010)
Brain
, vol.133
, Issue.PART 5
, pp. 1460-1469
-
-
Cartoni, R.1
Arnaud, E.2
Médard, J.J.3
Poirot, O.4
Courvoisier, D.S.5
Chrast, R.6
-
8
-
-
77956525855
-
HDAC6 regulates mitochondrial transport in hippocampal neurons
-
Chen S, Owens GC, Makarenkova H, Edelman DB. HDAC6 regulates mitochondrial transport in hippocampal neurons. PLoS One 2010;5(5):e10848.
-
(2010)
PLoS One
, vol.5
, Issue.5
-
-
Chen, S.1
Owens, G.C.2
Makarenkova, H.3
Edelman, D.B.4
-
9
-
-
33745818873
-
PACSINs bind to the TRPV4 cation channel: PACSIN 3 modulates the subcellular localization of TRPV4
-
DOI 10.1074/jbc.M602452200
-
Cuajungco MP, Grimm C, Oshima K, D'hoedt D, Nilius B, Mensenkamp AR, et al. PACSINs bind to the TRPV4 cation channel. PACSIN 3 modulates the subcellular localization of TRPV4. The Journal of Biological Chemistry 2006;281(27):18753- 62. (Pubitemid 44035536)
-
(2006)
Journal of Biological Chemistry
, vol.281
, Issue.27
, pp. 18753-18762
-
-
Cuajungco, M.P.1
Grimm, C.2
Oshima, K.3
D'Hoedt, D.4
Nilius, B.5
Mensenkamp, A.R.6
Bindels, R.J.M.7
Plomann, M.8
Heller, S.9
-
10
-
-
79961168180
-
HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1- Induced Charcot-Marie-Tooth disease
-
d'Ydewalle C, Krishnan J, Chiheb DM, Van Damme P, Irobi J, Kozikowski AP, et al. HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1- induced Charcot-Marie-Tooth disease. Nature Medicine 2011;17(8):968-74.
-
(2011)
Nature Medicine
, vol.17
, Issue.8
, pp. 968-974
-
-
D'Ydewalle, C.1
Krishnan, J.2
Chiheb, D.M.3
Van Damme, P.4
Irobi, J.5
Kozikowski, A.P.6
-
12
-
-
33749620373
-
Rab5 and Rab7 Control Endocytic Sorting along the Axonal Retrograde Transport Pathway
-
DOI 10.1016/j.neuron.2006.08.018, PII S0896627306006404
-
Deinhardt K, Salinas S, Verastegui C, Watson R, Worth D, Hanrahan S, et al. Rab5 and Rab7 control endocytic sorting along the axonal retrograde transport pathway. Neuron 2006;52(2):293-305. (Pubitemid 44548343)
-
(2006)
Neuron
, vol.52
, Issue.2
, pp. 293-305
-
-
Deinhardt, K.1
Salinas, S.2
Verastegui, C.3
Watson, R.4
Worth, D.5
Hanrahan, S.6
Bucci, C.7
Schiavo, G.8
-
13
-
-
77954162482
-
Reversal of neuropathy phenotypes in conditional mouse model of Charcot-Marie-Tooth disease type 2E
-
Dequen F, Filali M, Larivière RC, Perrot R, Hisanaga S, Julien JP. Reversal of neuropathy phenotypes in conditional mouse model of Charcot-Marie-Tooth disease type 2E. Human Molecular Genetics 2010;19(13):2616-29.
-
(2010)
Human Molecular Genetics
, vol.19
, Issue.13
, pp. 2616-2629
-
-
Dequen, F.1
Filali, M.2
Larivière, R.C.3
Perrot, R.4
Hisanaga, S.5
Julien, J.P.6
-
14
-
-
38349185051
-
Hindlimb gait defects due to motor axon loss and reduced distal muscles in a transgenic mouse model of Charcot-Marie-Tooth type 2A
-
Detmer SA, Vande Velde C, Cleveland DW, Chan DC. Hindlimb gait defects due to motor axon loss and reduced distal muscles in a transgenic mouse model of Charcot-Marie-Tooth type 2A. Human Molecular Genetics 2008;17(3):367-75.
-
(2008)
Human Molecular Genetics
, vol.17
, Issue.3
, pp. 367-375
-
-
Detmer, S.A.1
Vande Velde, C.2
Cleveland, D.W.3
Chan, D.C.4
-
15
-
-
0344666404
-
Progesterone stimulates the activity of the promoters of peripheral myelin protein-22 and protein zero genes in Schwann cells
-
Désarnaud F, Do Thi AN, Brown AM, Lemke G, Suter U, Baulieu EE, et al. Progesterone stimulates the activity of the promoters of peripheral myelin protein-22 and protein zero genes in Schwann cells. Journal of Neurochemistry 1998;71(4):1765-8. (Pubitemid 28443052)
-
(1998)
Journal of Neurochemistry
, vol.71
, Issue.4
, pp. 1765-1768
-
-
Desarnaud, F.1
Do, T.A.N.2
Brown, A.M.3
Lemke, G.4
Suter, U.5
Baulieu, E.-E.6
Schumacher, M.7
-
16
-
-
0023575754
-
Differentiation of axon-related Schwann cells in vitro. I. Ascorbic acid regulates basal lamina assembly and myelin formation
-
Eldridge CF, Bunge MB, Bunge RP. Differentiation of axon-related Schwann cells in vitro. I. Ascorbic acid regulates basal lamina assembly and myelin formation. The Journal of Cell Biology 1987;105(2):1023-34. (Pubitemid 18043863)
-
(1987)
Journal of Cell Biology
, vol.105
, Issue.2
, pp. 1023-1034
-
-
Eldridge, C.F.1
Bunge, M.B.2
Bunge, R.P.3
Wood, P.M.4
-
17
-
-
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, Van Den Bosch L, Dierick I, Leung CL, et al. Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. Nature Genetics 2004;36(6):602-6. (Pubitemid 38715987)
-
(2004)
Nature Genetics
, vol.36
, Issue.6
, pp. 602-606
-
-
Evgrafov, O.V.1
Mersiyanova, I.2
Irobi, J.3
Van Den, B.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..
-
18
-
-
79955758732
-
Mutant TRPV4-mediated toxicity is linked to increased constitutive function in axonal neuropathies
-
Fecto F, Shi Y, Huda R, Martina M, Siddique T, Deng HX. Mutant TRPV4-mediated toxicity is linked to increased constitutive function in axonal neuropathies. Journal of Biological Chemistry 2011;286(19):17281-91.
-
(2011)
Journal of Biological Chemistry
, vol.286
, Issue.19
, pp. 17281-17291
-
-
Fecto, F.1
Shi, Y.2
Huda, R.3
Martina, M.4
Siddique, T.5
Deng, H.X.6
-
19
-
-
77955379568
-
Importance of non-selective cation channel TRPV4 interaction with cytoskeleton and their reciprocal regulations in cultured cells
-
Goswami C, Kuhn J, Heppenstall PA, Hucho T. Importance of non-selective cation channel TRPV4 interaction with cytoskeleton and their reciprocal regulations in cultured cells. PloS One 2010;5(7):e11654.
-
(2010)
PloS One
, vol.5
, Issue.7
-
-
Goswami, C.1
Kuhn, J.2
Heppenstall, P.A.3
Hucho, T.4
-
20
-
-
23044432581
-
The GTPase dMiro is required for axonal transport of mitochondria to drosophila synapses
-
DOI 10.1016/j.neuron.2005.06.027, PII S0896627305005337
-
Guo X, Macleod GT, Wellington A, Hu F, Panchumarthi S, Schoenfield M, et al. The GTPase dMiro is required for axonal transport of mitochondria to Drosophila synapses. Neuron 2005;47(3):379-93. (Pubitemid 41073879)
-
(2005)
Neuron
, vol.47
, Issue.3
, pp. 379-393
-
-
Guo, X.1
Macleod, G.T.2
Wellington, A.3
Hu, F.4
Panchumarthi, S.5
Schoenfield, M.6
Marin, L.7
Charlton, M.P.8
Atwood, H.L.9
Zinsmaier, K.E.10
-
21
-
-
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, Jordanova A, Dierick I, Verpoorten N, et al. Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. Nature Genetics 2004;36(6):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, B.L.17
Robberecht, W.18
Vandekerckhove, J.19
Van Broeckhoven, C.20
Gettemans, J.21
De Jonghe, P.22
Timmerman, V.23
more..
-
22
-
-
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, Van Dijck P, Meerschaert K, Dewil M, et al. Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth. Nature Genetics 2006;38(2):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, B.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..
-
23
-
-
0035975946
-
The Rab7 effector protein RILP controls lysosomal transport by inducing the recruitment of dynein-dynactin motors
-
DOI 10.1016/S0960-9822(01)00531-0
-
Jordens I, Fernandez-Borja M, Marsman M, Dusseljee S, Janssen L, Calafat J, et al. The Rab7 effector protein RILP controls lysosomal transport by inducing the recruitment of dynein-dynactin motors. Current Biology 2001;11(21):1680-5. (Pubitemid 33037779)
-
(2001)
Current Biology
, vol.11
, Issue.21
, pp. 1680-1685
-
-
Jordens, I.1
Fernandez-Borja, M.2
Marsman, M.3
Dusseljee, S.4
Janssen, L.5
Calafat, J.6
Janssen, H.7
Wubbolts, R.8
Neefjes, J.9
-
24
-
-
76649105116
-
Mutant small heat shock protein B3 causes motor neuropathy: Utility of a candidate gene approach
-
Kolb SJ, Snyder PJ, Poi EJ, Renard EA, Bartlett A, Gu S, et al. Mutant small heat shock protein B3 causes motor neuropathy: utility of a candidate gene approach. Neurology 2010;74(6):502-6.
-
(2010)
Neurology
, vol.74
, Issue.6
, pp. 502-506
-
-
Kolb, S.J.1
Snyder, P.J.2
Poi, E.J.3
Renard, E.A.4
Bartlett, A.5
Gu, S.6
-
25
-
-
79953784083
-
Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: Molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models
-
Leal A, Huehne K, Bauer F, Sticht H, Berger P, Suter U, et al. Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models. Neurogenetics 2009;10(4):275-87.
-
(2009)
Neurogenetics
, vol.10
, Issue.4
, pp. 275-287
-
-
Leal, A.1
Huehne, K.2
Bauer, F.3
Sticht, H.4
Berger, P.5
Suter, U.6
-
26
-
-
77950686629
-
Disease mutations in Rab7 result in unregulated nucleotide exchange and inappropriate activation
-
McCray BA, Skordalakes E, Taylor JP. Disease mutations in Rab7 result in unregulated nucleotide exchange and inappropriate activation. Human Molecular Genetics 2010;19(6):1033-47.
-
(2010)
Human Molecular Genetics
, vol.19
, Issue.6
, pp. 1033-1047
-
-
McCray, B.A.1
Skordalakes, E.2
Taylor, J.P.3
-
27
-
-
77949801029
-
Mitofusin 2 is necessary for transport of axonal mitochondria and interacts with the miro/milton complex
-
Misko A, Jiang S, Wegorzewska I, Milbrandt J, Baloh RH. Mitofusin 2 is necessary for transport of axonal mitochondria and interacts with the miro/milton complex. Journal of Neuroscience 2010;30(12):4232-40.
-
(2010)
Journal of Neuroscience
, vol.30
, Issue.12
, pp. 4232-4240
-
-
Misko, A.1
Jiang, S.2
Wegorzewska, I.3
Milbrandt, J.4
Baloh, R.H.5
-
28
-
-
84855289563
-
Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels
-
Motley WW, Seburn KL, Nawaz MH, Miers KE, Cheng J, Antonellis A, et al. Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels. PLoS Genetics 2011;7(12):e1002399.
-
(2011)
PLoS Genetics
, vol.7
, Issue.12
-
-
Motley, W.W.1
Seburn, K.L.2
Nawaz, M.H.3
Miers, K.E.4
Cheng, J.5
Antonellis, A.6
-
29
-
-
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, Schenone A, Suter U. Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease. The Journal of Cell Biology 2005;170(7):1067-78. (Pubitemid 41362639)
-
(2005)
Journal of Cell Biology
, vol.170
, Issue.7
, pp. 1067-1078
-
-
Niemann, A.1
Ruegg, M.2
La, P.V.3
Schenone, A.4
Suter, U.5
-
30
-
-
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. Neurobiology of Disease 2009;36(3):509-20.
-
(2009)
Neurobiology of Disease
, vol.36
, Issue.3
, pp. 509-520
-
-
Niemann, A.1
Wagner, K.M.2
Ruegg, M.3
Suter, U.4
-
31
-
-
79952736703
-
Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): A double-blind randomised trial
-
Pareyson D, Reilly MM, Schenone A, Fabrizi GM, Cavallaro T, Santoro L, et al. Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial. Lancet Neurology 2011;10(4):320-8.
-
(2011)
Lancet Neurology
, vol.10
, Issue.4
, pp. 320-328
-
-
Pareyson, D.1
Reilly, M.M.2
Schenone, A.3
Fabrizi, G.M.4
Cavallaro, T.5
Santoro, L.6
-
32
-
-
0037382240
-
Mutant dynactin in motor neuron disease
-
DOI 10.1038/ng1123
-
Puls I, Jonnakuty C, LaMonte BH, Holzbaur EL, Tokito M, Mann E, et al. Mutant dynactin in motor neuron disease. Nature Genetics 2003;33(4):455-6. (Pubitemid 36390002)
-
(2003)
Nature Genetics
, vol.33
, Issue.4
, pp. 455-456
-
-
Puls, I.1
Jonnakuty, C.2
LaMonte, B.H.3
Holzbaur, E.L.F.4
Tokito, M.5
Mann, E.6
Floeter, M.K.7
Bidus, K.8
Drayna, D.9
Oh, S.J.10
Brown Jr., R.H.11
Ludlow, C.L.12
Fischbeck, K.H.13
-
33
-
-
72449140657
-
Diagnosis and new treatments in genetic neuropathies
-
Reilly MM, Shy ME. Diagnosis and new treatments in genetic neuropathies. Journal of Neurology, Neurosurgery, and Psychiatry 2009;80(12):1304-14.
-
(2009)
Journal of Neurology, Neurosurgery, and Psychiatry
, vol.80
, Issue.12
, pp. 1304-1314
-
-
Reilly, M.M.1
Shy, M.E.2
-
34
-
-
73349143672
-
HDAC6 is a target for protection and regeneration following injury in the nervous system
-
Rivieccio MA, Brochier C, Willis DE, Walker BA, D'Annibale MA, McLaughlin K, et al. HDAC6 is a target for protection and regeneration following injury in the nervous system. Proceedings of the National Academy of Sciences of the United States of America 2009;106(46):19599-604.
-
(2009)
Proceedings of the National Academy of Sciences of the United States of America
, vol.106
, Issue.46
, pp. 19599-19604
-
-
Rivieccio, M.A.1
Brochier, C.2
Willis, D.E.3
Walker, B.A.4
D'Annibale, M.A.5
McLaughlin, K.6
-
35
-
-
28044444522
-
The small GTPase Rab7 controls the endosomal trafficking and neuritogenic signaling of the nerve growth factor receptor TrkA
-
DOI 10.1523/JNEUROSCI.2029-05.2005
-
Saxena S. The small GTPase Rab7 controls the endosomal trafficking and neuritogenic signaling of the nerve growth factor receptor TrkA. Journal of Neuroscience 2005;25(47):10930-40. (Pubitemid 41692623)
-
(2005)
Journal of Neuroscience
, vol.25
, Issue.47
, pp. 10930-10940
-
-
Saxena, S.1
Bucci, C.2
Weis, J.3
Kruttgen, A.4
-
36
-
-
0347185347
-
Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A)
-
Sereda MW, Meyer zu Hörste G, Suter U, Uzma N, Nave KA. Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A). Nature Medicine 2003;9(12):1533-7.
-
(2003)
Nature Medicine
, vol.9
, Issue.12
, pp. 1533-1537
-
-
Sereda, M.W.1
Meyer Zu Hörste, G.2
Suter, U.3
Uzma, N.4
Nave, K.A.5
-
37
-
-
33745273262
-
Therapeutic strategies for the inherited neuropathies
-
Shy ME. Therapeutic strategies for the inherited neuropathies. Neuromolecular Medicine 2006;8(1-2):255-78.
-
(2006)
Neuromolecular Medicine
, vol.8
, Issue.1-2
, pp. 255-278
-
-
Shy, M.E.1
-
38
-
-
0141833983
-
Disease mechanisms in inherited neuropathies
-
DOI 10.1038/nrn1196
-
Suter U, Scherer SS. Disease mechanisms in inherited neuropathies. Nature Reviews Neuroscience 2003;4(9):714-26. (Pubitemid 37280151)
-
(2003)
Nature Reviews Neuroscience
, vol.4
, Issue.9
, pp. 714-726
-
-
Suter, U.1
Scherer, S.S.2
-
39
-
-
67449124363
-
Dynamic instability of microtubules requires dynamin 2 and is impaired in a Charcot-Marie-Tooth mutant
-
Tanabe K, Takei K. Dynamic instability of microtubules requires dynamin 2 and is impaired in a Charcot-Marie-Tooth mutant. The Journal of Cell Biology 2009;185(6):939-48.
-
(2009)
The Journal of Cell Biology
, vol.185
, Issue.6
, pp. 939-948
-
-
Tanabe, K.1
Takei, K.2
-
40
-
-
80051671416
-
Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease
-
Weedon MN, Hastings R, Caswell R, Xie W, Paszkiewicz K, Antoniadi T, et al. Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. The American Journal of Human Genetics 2011;89(2):308-12.
-
(2011)
The American Journal of Human Genetics
, vol.89
, Issue.2
, pp. 308-312
-
-
Weedon, M.N.1
Hastings, R.2
Caswell, R.3
Xie, W.4
Paszkiewicz, K.5
Antoniadi, T.6
-
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, Patel H, Petek E, Hörl G, et al. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nature Genetics 2004;36(3):271-6. (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, B.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
-
-
84857275266
-
Local translation of extranuclear lamin B promotes axon maintenance
-
Yoon BC, Jung H, Dwivedy A, O'Hare CM, Zivraj KH, Holt CE. Local translation of extranuclear lamin B promotes axon maintenance. Cell 2012;148(4):752-64.
-
(2012)
Cell
, vol.148
, Issue.4
, pp. 752-764
-
-
Yoon, B.C.1
Jung, H.2
Dwivedy, A.3
O'Hare, C.M.4
Zivraj, K.H.5
Holt, C.E.6
-
43
-
-
36248947271
-
Disruption of neurofilament network with aggregation of light neurofilament protein: A common pathway leading to motor neuron degeneration due to Charcot-Marie-Tooth disease-linked mutations in NFL and HSPB1
-
DOI 10.1093/hmg/ddm272
-
Zhai J, Lin H, Julien JP, Schlaepfer WW. Disruption of neurofilament network with aggregation of light neurofilament protein: a common pathway leading to motor neuron degeneration due to Charcot-Marie-Tooth disease-linked mutations in NFL and HSPB1. Human Molecular Genetics 2007;16(24):3103-16. (Pubitemid 350131329)
-
(2007)
Human Molecular Genetics
, vol.16
, Issue.24
, pp. 3103-3116
-
-
Zhai, J.1
Lin, H.2
Julien, J.-P.3
Schlaepfer, W.W.4
-
44
-
-
33645276591
-
Mechanisms of disease: A molecular genetic update on hereditary axonal neuropathies
-
Züchner S, Vance JM. Mechanisms of disease: a molecular genetic update on hereditary axonal neuropathies. Nature Clinical Practice Neurology 2006;2(1):45-53.
-
(2006)
Nature Clinical Practice Neurology
, vol.2
, Issue.1
, pp. 45-53
-
-
Züchner, S.1
Vance, J.M.2
-
45
-
-
20144366550
-
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease
-
DOI 10.1038/ng1514
-
Züchner S, Noureddine M, Kennerson M, Verhoeven K, Claeys K, De Jonghe P, et al. Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nature Genetics 2005;37(3):289-94. (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
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