메뉴 건너뛰기




Volumn 11, Issue 3, 2011, Pages 262-273

Recent advances in the genetics of hereditary axonal sensory-motor neuropathies type 2

Author keywords

Axonal CMT; Axonal transport; CMT2; CMT2A1; CMT2A2; CMT2B; CMT2B1; CMT2B2; CMT2C; CMT2D; CMT2G; CMT2I; CMT2J; CMT2K; CMT2L; CMT2M; CMT2N; CMTF; CMTH; Endosomal trafficking; HSMN; Mitochondrial dynamic; RNA processing

Indexed keywords

ALANINE TRANSFER RNA LIGASE; DYNAMIN II; GANGLIOSIDE INDUCED DIFFERENTIATION ASSOCIATED PROTEIN 1; GLYCINE TRANSFER RNA LIGASE; HEAT SHOCK PROTEIN; HEAT SHOCK PROTEIN 27; HEAT SHOCK PROTEIN B8; KINESIN 1; KINESIN 1B; LAMININ A; MEDIATOR COMPLEX SUBUNIT 25; MEMBRANE PROTEIN; MITOFUSIN 2; MYELIN PROTEIN; MYELIN PROTEIN ZERO; NEUROFILAMENT LIGHT CHAIN PROTEIN; NEUROFILAMENT PROTEIN; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG; VANILLOID RECEPTOR 4;

EID: 79961163495     PISSN: 15284042     EISSN: 15346293     Source Type: Journal    
DOI: 10.1007/s11910-011-0185-z     Document Type: Article
Times cited : (10)

References (95)
  • 5
    • 77955287381 scopus 로고    scopus 로고
    • Physiological functions of mitochondrial fusion
    • Chen H, Chan DC: Physiological functions of mitochondrial fusion. Ann N Y Acad Sci. 2010;1201: 21-5.
    • (2010) Ann N y Acad Sci , vol.1201 , pp. 21-25
    • Chen, H.1    Chan, D.C.2
  • 6
    • 22544451586 scopus 로고    scopus 로고
    • 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;280:26185-92. (Pubitemid 41022214)
    • (2005) Journal of Biological Chemistry , vol.280 , Issue.28 , pp. 26185-26192
    • Chen, H.1    Chomyn, A.2    Chan, D.C.3
  • 7
    • 77949801029 scopus 로고    scopus 로고
    • Mitofusin 2 is necessary for transport of axonal mitochondria and interacts with the Miro/Milton complex
    • Misko A, Jiang S, Wegorzewska I, et al.: Mitofusin 2 is necessary for transport of axonal mitochondria and interacts with the Miro/Milton complex. J Neurosci. 2010;30: 4232-40.
    • (2010) J Neurosci , vol.30 , pp. 4232-4240
    • Misko, A.1    Jiang, S.2    Wegorzewska, I.3
  • 8
    • 77951896551 scopus 로고    scopus 로고
    • Expression of mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A
    • Cartoni R, Arnaud E, Medard JJ, et al.: Expression of mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A. Brain 2010;133: 1460-9.
    • (2010) Brain , vol.133 , pp. 1460-1469
    • Cartoni, R.1    Arnaud, E.2    Medard, J.J.3
  • 9
    • 22544465572 scopus 로고    scopus 로고
    • 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
  • 10
    • 23244443545 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: Families with and without MFN2 mutations
    • DOI 10.1212/01.wnl.0000171345.62270.29
    • Zhu D, Kennerson ML, Walizada G, et al. Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations. Neurology. 2005;65:496-7. (Pubitemid 41099829)
    • (2005) Neurology , vol.65 , Issue.3 , pp. 496-497
    • Zhu, D.1    Kennerson, M.L.2    Walizada, G.3    Zuchner, S.4    Vance, J.M.5    Nicholson, G.A.6
  • 11
    • 79958135857 scopus 로고    scopus 로고
    • A novel de novo MFN2 mutation causing CMT2A with upper motor neuron signs
    • Ajroud-Driss S, Fecto F, Ajroud K, et al. A novel de novo MFN2 mutation causing CMT2A with upper motor neuron signs. Neurogenetics. 2009;10:359-61.
    • (2009) Neurogenetics , vol.10 , pp. 359-361
    • Ajroud-Driss, S.1    Fecto, F.2    Ajroud, K.3
  • 14
    • 0029150128 scopus 로고
    • Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q
    • Kwon JM, Elliott JL, Yee WC, et al. Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q. Am J Hum Genet. 1995;57:853-8.
    • (1995) Am J Hum Genet , vol.57 , pp. 853-858
    • Kwon, J.M.1    Elliott, J.L.2    Yee, W.C.3
  • 18
    • 33749620373 scopus 로고    scopus 로고
    • 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, et al. Rab5 and Rab7 control endocytic sorting along the axonal retrograde transport pathway. Neuron. 2006;52:293-305. (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
  • 19
    • 77956184372 scopus 로고    scopus 로고
    • CMT2B-associated Rab7 mutants inhibit neurite outgrowth
    • Cogli L, Progida C, Lecci R, et al.: CMT2B-associated Rab7 mutants inhibit neurite outgrowth. Acta Neuropathol. 2010;120: 491-501.
    • (2010) Acta Neuropathol , vol.120 , pp. 491-501
    • Cogli, L.1    Progida, C.2    Lecci, R.3
  • 20
    • 78149353040 scopus 로고    scopus 로고
    • The mood stabilizer valproic acid improves defective neurite formation caused by charcot-marie-tooth disease-associated mutant Rab7 through the JNK signaling pathway
    • Yamauchi J, Torii T, Kusakawa S, et al.: The mood stabilizer valproic acid improves defective neurite formation caused by charcot-marie-tooth disease-associated mutant Rab7 through the JNK signaling pathway. J Neurosci Res. 2010;88: 3189-97.
    • (2010) J Neurosci Res , vol.88 , pp. 3189-3197
    • Yamauchi, J.1    Torii, T.2    Kusakawa, S.3
  • 21
    • 0026733132 scopus 로고
    • A large New England kindred with autosomal dominant neurogenic scapuloperoneal amyotrophy with unique features
    • DeLong R, Siddique T. A large New England kindred with autosomal dominant neurogenic scapuloperoneal amyotrophy with unique features. Arch Neurol. 1992;49:905-8.
    • (1992) Arch Neurol , vol.49 , pp. 905-908
    • Delong, R.1    Siddique, T.2
  • 26
    • 75749083221 scopus 로고    scopus 로고
    • 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: 165-9.
    • (2010) Nat Genet , vol.42 , pp. 165-169
    • Deng, H.X.1    Klein, C.J.2    Yan, J.3
  • 27
    • 75749129360 scopus 로고    scopus 로고
    • Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C
    • Auer-Grumbach M, Olschewski A, Papic L, et al.: Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. Nat Genet. 2010;42: 160-164.
    • (2010) Nat Genet , vol.42 , pp. 160-164
    • Auer-Grumbach, M.1    Olschewski, A.2    Papic, L.3
  • 28
    • 75749139617 scopus 로고    scopus 로고
    • 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: 170-4.
    • (2010) Nat Genet , vol.42 , pp. 170-174
    • Landoure, G.1    Zdebik, A.A.2    Martinez, T.L.3
  • 29
    • 0034727596 scopus 로고    scopus 로고
    • Phenotypegenotype correlations in a CMT2B family with refined 3q13-q22 locus
    • Auer-Grumbach M, De Jonghe P, Wagner K, et al. Phenotypegenotype correlations in a CMT2B family with refined 3q13-q22 locus. Neurology. 2000;55:1552-7.
    • (2000) Neurology , vol.55 , pp. 1552-1557
    • Auer-Grumbach, M.1    De Jonghe, P.2    Wagner, K.3
  • 30
    • 0034306198 scopus 로고    scopus 로고
    • OTRPC4, a nonselective cation channel that confers sensitivity to extracellular osmolarity
    • Strotmann R, Harteneck C, Nunnenmacher K, et al. OTRPC4, a nonselective cation channel that confers sensitivity to extracellular osmolarity. Nat Cell Biol. 2000;2:695-702.
    • (2000) Nat Cell Biol , vol.2 , pp. 695-702
    • Strotmann, R.1    Harteneck, C.2    Nunnenmacher, K.3
  • 31
    • 75749129058 scopus 로고    scopus 로고
    • Channelopathies converge on TRPV4
    • Nilius B, Owsianik G: Channelopathies converge on TRPV4. Nat Genet. 2010;42: 98-100.
    • (2010) Nat Genet , vol.42 , pp. 98-100
    • Nilius, B.1    Owsianik, G.2
  • 32
    • 79952904426 scopus 로고    scopus 로고
    • Mutations and cytotoxic hypercalcemia in axonal Charcot-Matie-Tooth neuropathies
    • In Press
    • Klein CJ, Shi Y, Fecto F, et al.: Mutations and cytotoxic hypercalcemia in axonal Charcot-Matie-Tooth neuropathies. Neurology In Press.
    • Neurology
    • Klein, C.J.1    Shi, Y.2    Fecto, F.3
  • 33
    • 77952959682 scopus 로고    scopus 로고
    • Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies
    • Zimon M, Baets J, Auer-Grumbach M, et al. Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies. Brain. 2010;133:1798-809.
    • (2010) Brain , vol.133 , pp. 1798-1809
    • Zimon, M.1    Baets, J.2    Auer-Grumbach, M.3
  • 34
    • 48349103354 scopus 로고    scopus 로고
    • Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia
    • Rock MJ, Prenen J, Funari VA, et al. Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. Nat Genet. 2008;40:999-1003.
    • (2008) Nat Genet , vol.40 , pp. 999-1003
    • Rock, M.J.1    Prenen, J.2    Funari, V.A.3
  • 35
    • 61549126051 scopus 로고    scopus 로고
    • Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia
    • Krakow D, Vriens J, Camacho N, et al. Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. Am J Hum Genet. 2009;84:307-15.
    • (2009) Am J Hum Genet , vol.84 , pp. 307-315
    • Krakow, D.1    Vriens, J.2    Camacho, N.3
  • 36
    • 37549002929 scopus 로고    scopus 로고
    • OS-9 regulates the transit and polyubiquitination of TRPV4 in the endoplasmic reticulum
    • Wang Y, Fu X, Gaiser S, et al. OS-9 regulates the transit and polyubiquitination of TRPV4 in the endoplasmic reticulum. J Biol Chem. 2007;282:36561-70.
    • (2007) J Biol Chem , vol.282 , pp. 36561-36570
    • Wang, Y.1    Fu, X.2    Gaiser, S.3
  • 37
    • 0345659198 scopus 로고    scopus 로고
    • Abnormal osmotic regulation in trpv4-/-mice
    • Liedtke W, Friedman JM. Abnormal osmotic regulation in trpv4-/-mice. Proc Natl Acad Sci USA. 2003;100:13698-703.
    • (2003) Proc Natl Acad Sci USA , vol.100 , pp. 13698-13703
    • Liedtke, W.1    Friedman, J.M.2
  • 38
  • 42
    • 34347348110 scopus 로고    scopus 로고
    • Cytoplasmic and mitochondrial protein translation in axonal and dendritic terminal arborization
    • DOI 10.1038/nn1910, PII NN1910
    • Chihara T, Luginbuhl D, Luo L. Cytoplasmic and mitochondrial protein translation in axonal and dendritic terminal arborization. Nat Neurosci. 2007;10:828-37. (Pubitemid 47013428)
    • (2007) Nature Neuroscience , vol.10 , Issue.7 , pp. 828-837
    • Chihara, T.1    Luginbuhl, D.2    Luo, L.3
  • 46
    • 0348011603 scopus 로고    scopus 로고
    • Functions of Intermediate Filaments in Neuronal Development and Disease
    • DOI 10.1002/neu.10270
    • Lariviere RC, Julien JP. Functions of intermediate filaments in neuronal development and disease. J Neurobiol. 2004;58:131-48. (Pubitemid 37543344)
    • (2004) Journal of Neurobiology , vol.58 , Issue.1 , pp. 131-148
    • Lariviere, R.C.1    Julien, J.-P.2
  • 47
    • 5444267945 scopus 로고    scopus 로고
    • Phenotypic analysis of neurofilament light gene mutations linked to Charcot-Marie-Tooth disease in cell culture models
    • DOI 10.1093/hmg/ddh236
    • Perez-Olle R, Jones ST, Liem RK. Phenotypic analysis of neurofilament light gene mutations linked to Charcot-Marie-Tooth disease in cell culture models. Hum Mol Genet. 2004;13:2207-20. (Pubitemid 39359921)
    • (2004) Human Molecular Genetics , vol.13 , Issue.19 , pp. 2207-2220
    • Perez-Olle, R.1    Jones, S.T.2    Liem, R.K.H.3
  • 48
    • 77954162482 scopus 로고    scopus 로고
    • Reversal of neuropathy phenotypes in conditional mouse model of Charcot-Marie-Tooth disease type 2E
    • Dequen F, Filali M, Lariviere RC, et al.: Reversal of neuropathy phenotypes in conditional mouse model of Charcot-Marie-Tooth disease type 2E. Hum Mol Genet. 2010;19: 2616-29.
    • (2010) Hum Mol Genet , vol.19 , pp. 2616-2629
    • Dequen, F.1    Filali, M.2    Lariviere, R.C.3
  • 51
    • 77956640402 scopus 로고    scopus 로고
    • Heat shock protein 27 R127W mutation: Evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy
    • Solla P, Vannelli A, Bolino A, et al.: Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy. J Neurol Neurosurg Psychiatry 2010;81: 958-62.
    • (2010) J Neurol Neurosurg Psychiatry , vol.81 , pp. 958-962
    • Solla, P.1    Vannelli, A.2    Bolino, A.3
  • 52
    • 33751203833 scopus 로고    scopus 로고
    • Heat shock proteins 27 and 70: Anti-apoptotic proteins with tumorigenic properties
    • Garrido C, Brunet M, Didelot C, et al. Heat shock proteins 27 and 70: anti-apoptotic proteins with tumorigenic properties. Cell Cycle. 2006;5:2592-601. (Pubitemid 44785803)
    • (2006) Cell Cycle , vol.5 , Issue.22 , pp. 2592-2601
    • Garrido, C.1    Brunet, M.2    Didelot, C.3    Zermati, Y.4    Schmitt, E.5    Kroemer, G.6
  • 53
    • 31144453053 scopus 로고    scopus 로고
    • A mutation in the small heat-shock protein HSPB1 leading to distal hereditary motor neuronopathy disrupts neurofilament assembly and the axonal transport of specific cellular cargoes
    • DOI 10.1093/hmg/ddi452
    • Ackerley S, James PA, Kalli A, et al. A mutation in the small heatshock protein HSPB1 leading to distal hereditary motor neuronopathy disrupts neurofilament assembly and the axonal transport of specific cellular cargoes. Hum Mol Genet. 2006;15:347-54. (Pubitemid 43125988)
    • (2006) Human Molecular Genetics , vol.15 , Issue.2 , pp. 347-354
    • Ackerley, S.1    James, P.A.2    Kalli, A.3    French, S.4    Davies, K.E.5    Talbot, K.6
  • 54
    • 36248947271 scopus 로고    scopus 로고
    • 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. Hum Mol Genet. 2007;16:3103-16. (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
  • 55
    • 77951213476 scopus 로고    scopus 로고
    • Increased monomerization of mutant HSPB1 leads to protein hyperactivity in Charcot-Marie-Tooth neuropathy
    • Almeida-Souza L, Goethals S, de Winter V, et al. Increased monomerization of mutant HSPB1 leads to protein hyperactivity in Charcot-Marie-Tooth neuropathy. J Biol Chem. 2010;285:12778-86.
    • (2010) J Biol Chem , vol.285 , pp. 12778-12786
    • Almeida-Souza, L.1    Goethals, S.2    De Winter, V.3
  • 60
    • 71949105367 scopus 로고    scopus 로고
    • Predominant parasympathetic involvement in a patient with Charcot-Marie-Tooth disease caused by the MPZ Thr124Met mutation
    • Nakamura N, Kawamura N, Tateishi T, et al. Predominant parasympathetic involvement in a patient with Charcot-Marie-Tooth disease caused by the MPZ Thr124Met mutation. Rinsho Shinkeigaku. 2009;49:582-5.
    • (2009) Rinsho Shinkeigaku , vol.49 , pp. 582-585
    • Nakamura, N.1    Kawamura, N.2    Tateishi, T.3
  • 61
    • 0032531981 scopus 로고    scopus 로고
    • Protein zero, a myelin IgCAM, induces physiologically operative tight junctions in nonadhesive carcinoma cells
    • DOI 10.1002/(SICI)1097-4547(19981015)54: 2<282::AID-JNR16>3.0.CO;2- 6
    • Spiryda LB, Colman DR. Protein zero, a myelin IgCAM, induces physiologically operative tight junctions in nonadhesive carcinoma cells. J Neurosci Res. 1998;54:282-8. (Pubitemid 28469069)
    • (1998) Journal of Neuroscience Research , vol.54 , Issue.2 , pp. 282-288
    • Spiryda, L.B.1    Colman, D.R.2
  • 62
    • 0028824925 scopus 로고
    • Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies
    • Martini R, Zielasek J, Toyka KV, et al. Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies. Nat Genet. 1995;11:281-6.
    • (1995) Nat Genet , vol.11 , pp. 281-286
    • Martini, R.1    Zielasek, J.2    Toyka, K.V.3
  • 63
    • 33644523786 scopus 로고    scopus 로고
    • Peripheral neuropathies caused by mutations in the myelin protein zero
    • Shy ME. Peripheral neuropathies caused by mutations in the myelin protein zero. J Neurol Sci. 2006;242:55-66.
    • (2006) J Neurol Sci , vol.242 , pp. 55-66
    • Shy, M.E.1
  • 64
    • 69249217929 scopus 로고    scopus 로고
    • Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies
    • Mandich P, Fossa P, Capponi S, et al.: Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies. Eur J Hum Genet. 2009;17: 1129-34.
    • (2009) Eur J Hum Genet , vol.17 , pp. 1129-1134
    • Mandich, P.1    Fossa, P.2    Capponi, S.3
  • 67
    • 77957794066 scopus 로고    scopus 로고
    • The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2 K
    • Crimella C, Tonelli A, Airoldi G, et al.: The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2 K. J Med Genet. 2010;47: 712-6.
    • (2010) J Med Genet , vol.47 , pp. 712-716
    • Crimella, C.1    Tonelli, A.2    Airoldi, G.3
  • 68
    • 55749093730 scopus 로고    scopus 로고
    • Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy
    • Sevilla T, Jaijo T, Nauffal D, et al.: Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy. Brain 2008;131: 3051-61.
    • (2008) Brain , vol.131 , pp. 3051-3061
    • Sevilla, T.1    Jaijo, T.2    Nauffal, D.3
  • 69
    • 18544385024 scopus 로고    scopus 로고
    • Gangliosideinduced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21
    • Baxter RV, Ben Othmane K, Rochelle JM, et al. Gangliosideinduced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nat Genet. 2002;30:21-2.
    • (2002) Nat Genet , vol.30 , pp. 21-22
    • Baxter, R.V.1    Ben Othmane, K.2    Rochelle, J.M.3
  • 70
    • 25444514731 scopus 로고    scopus 로고
    • 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;170:1067-78. (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
  • 71
    • 70350348361 scopus 로고    scopus 로고
    • GDAP1mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance
    • Niemann A, Wagner KM, RueggM, Suter U. GDAP1mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance. Neurobiol Dis. 2009;36:509-20.
    • (2009) Neurobiol Dis , vol.36 , pp. 509-520
    • Niemann, A.1    Wagner, K.M.2    Rueggm Suter, U.3
  • 74
    • 5444229769 scopus 로고    scopus 로고
    • Molecular genetics of distal hereditary motor neuropathies
    • DOI 10.1093/hmg/ddh226
    • Irobi J, De Jonghe P, Timmerman V. Molecular genetics of distal hereditary motor neuropathies. Hum Mol Genet. 2004;13(Spec No 2):R195-202. (Pubitemid 39359903)
    • (2004) Human Molecular Genetics , vol.13 , Issue.REV. ISS. 2
    • Irobi, J.1    De Jonghe, P.2    Timmerman, V.3
  • 75
    • 21244489544 scopus 로고    scopus 로고
    • HspB8, a small heat shock protein mutated in human neuromuscular disorders, has in vivo chaperone activity in cultured cells
    • DOI 10.1093/hmg/ddi174
    • Carra S, Sivilotti M, Chavez Zobel AT, et al. HspB8, a small heat shock protein mutated in human neuromuscular disorders, has in vivo chaperone activity in cultured cells. Hum Mol Genet. 2005;14:1659-69. (Pubitemid 40895518)
    • (2005) Human Molecular Genetics , vol.14 , Issue.12 , pp. 1659-1669
    • Carra, S.1    Sivilotti, M.2    Zobel, A.T.C.3    Lambert, H.4    Landry, J.5
  • 76
    • 77955021984 scopus 로고    scopus 로고
    • Mutant HSPB8 causes motor neuron-specific neurite degeneration
    • Irobi J, Almeida-Souza L, Asselbergh B, et al.: Mutant HSPB8 causes motor neuron-specific neurite degeneration. Hum Mol Genet. 2010;19: 3254-65.
    • (2010) Hum Mol Genet , vol.19 , pp. 3254-3265
    • Irobi, J.1    Almeida-Souza, L.2    Asselbergh, B.3
  • 78
    • 67650066361 scopus 로고    scopus 로고
    • 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;132:1741-52.
    • (2009) Brain , vol.132 , pp. 1741-1752
    • Claeys, K.G.1    Zuchner, S.2    Kennerson, M.3
  • 83
    • 73349114324 scopus 로고    scopus 로고
    • 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
  • 88
    • 49449103947 scopus 로고    scopus 로고
    • Founder effect and estimation of the age of the c.892 C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from NorthWestern Africa
    • Hamadouche T, Poitelon Y, Genin E, et al. Founder effect and estimation of the age of the c.892 C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from NorthWestern Africa. Ann Hum Genet. 2008;72:590-7.
    • (2008) Ann Hum Genet , vol.72 , pp. 590-597
    • Hamadouche, T.1    Poitelon, Y.2    Genin, E.3
  • 91
    • 33745242329 scopus 로고    scopus 로고
    • Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies
    • Bernard R, De Sandre-Giovannoli A, Delague V, Levy N. Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies. Neuromolecular Med. 2006;8:87-106.
    • (2006) Neuromolecular Med , vol.8 , pp. 87-106
    • Bernard, R.1    De Sandre-Giovannoli, A.2    Delague, V.3    Levy, N.4
  • 94
    • 79953784083 scopus 로고    scopus 로고
    • Identification of the variant Ala 335Val 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, 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, 10:275-87.
    • (2009) Neurogenetics , vol.10 , pp. 275-287
    • Leal, A.1    Huehne, K.2    Bauer, F.3
  • 95
    • 77950475726 scopus 로고    scopus 로고
    • Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy
    • Lupski JR, Reid JG, Gonzaga-Jauregui C, et al.: Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med. 2010, 362:1181-91.
    • (2010) N Engl J Med , vol.362 , pp. 1181-1191
    • Lupski, J.R.1    Reid, J.G.2    Gonzaga-Jauregui, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.