메뉴 건너뛰기




Volumn 8, Issue 1-2, 2006, Pages 123-130

Intermediate forms of charcot-marie-tooth neuropathy: A review

Author keywords

Charcot Marie Tooth neuropathy; CMT intermediate nerve conduction velocity

Indexed keywords

CONNEXIN 26; CONNEXIN 32; CONNEXIN 43; DYNAMIN II; GAP JUNCTION PROTEIN; GAP JUNCTION PROTEIN 1; GENE PRODUCT; NEUROFILAMENT LIGHT POLYPEPTIDE; UNCLASSIFIED DRUG;

EID: 33745250497     PISSN: 15351084     EISSN: None     Source Type: Journal    
DOI: 10.1385/NMM:8:1-2:123     Document Type: Review
Times cited : (82)

References (52)
  • 1
    • 0041525496 scopus 로고    scopus 로고
    • Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene
    • Azzedine H., Ruberg M., Ente D., et al. (2003) Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene. Neuromuscul. Disord. 13, 341-346.
    • (2003) Neuromuscul. Disord. , vol.13 , pp. 341-346
    • Azzedine, H.1    Ruberg, M.2    Ente, D.3
  • 2
    • 0030870708 scopus 로고    scopus 로고
    • Slow axonal transport: The polymer transport model
    • Baas P. W. and Brown A. (1997) Slow axonal transport: the polymer transport model. Trends Cell Biol. 7, 380-384.
    • (1997) Trends Cell Biol. , vol.7 , pp. 380-384
    • Baas, P.W.1    Brown, A.2
  • 3
    • 18544385024 scopus 로고    scopus 로고
    • Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21
    • Baxter R. V., Ben Othmane K., Rochelle J. M., et al. (2002) Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nat. Genet. 30, 21, 22.
    • (2002) Nat. Genet. , vol.30 , pp. 21
    • Baxter, R.V.1    Ben Othmane, K.2    Rochelle, J.M.3
  • 4
    • 0345316694 scopus 로고    scopus 로고
    • Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene
    • Birouk N., Azzedine H., Dubourg O., et al. (2003) Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene. Arch. Neurol. 60, 598-604.
    • (2003) Arch. Neurol. , vol.60 , pp. 598-604
    • Birouk, N.1    Azzedine, H.2    Dubourg, O.3
  • 6
    • 0002896804 scopus 로고
    • Sur une forme particuliere d'atrophie musculaire progressive souvent familial debutante par les pieds et les jambes et atteignant plus tard les mains
    • Charcot J. M. and Marie P. (1886) Sur une forme particuliere d'atrophie musculaire progressive souvent familial debutante par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. (Paris) 6, 97-138.
    • (1886) Rev. Med. (Paris) , vol.6 , pp. 97-138
    • Charcot, J.M.1    Marie, P.2
  • 7
    • 18544388962 scopus 로고    scopus 로고
    • 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. (2002) The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. Nat. Genet. 30, 22-25.
    • (2002) Nat. Genet. , vol.30 , pp. 22-25
    • Cuesta, A.1    Pedrola, L.2    Sevilla, T.3
  • 8
    • 0018222952 scopus 로고
    • The peroneal muscular atrophy syndrome: Clinical, genetic, electrophysiological and nerve biopsy studies. I. Clinical, genetic and electrophysiological findings and classification
    • Davis C. J., Bradley W. G., and Madrid R. (1978) The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsy studies. I. Clinical, genetic and electrophysiological findings and classification. J. Genet. Hum. 26, 311-349.
    • (1978) J. Genet. Hum. , vol.26 , pp. 311-349
    • Davis, C.J.1    Bradley, W.G.2    Madrid, R.3
  • 9
    • 0035136847 scopus 로고    scopus 로고
    • Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E
    • De Jonghe P., Mersivanova I., Nelis E., Del Favero J., Martin J. J., et al. (2001) Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E. Ann. Neurol. 49, 245-249.
    • (2001) Ann. Neurol. , vol.49 , pp. 245-249
    • De Jonghe, P.1    Mersivanova, I.2    Nelis, E.3    Del Favero, J.4    Martin, J.J.5
  • 11
    • 13844272835 scopus 로고    scopus 로고
    • Altered ion channels in an animal model of Charcot-Marie-Tooth disease type IA
    • Devaux J. J. and Scherer S. S. (2005) Altered ion channels in an animal model of Charcot-Marie-Tooth disease type IA. J. Neurosci. 25, 1470-1480.
    • (2005) J. Neurosci. , vol.25 , pp. 1470-1480
    • Devaux, J.J.1    Scherer, S.S.2
  • 12
    • 0001768884 scopus 로고
    • Inherited neural degeneration and atrophy affecting peripheral motor, sensory and autonomic neurons
    • P. J. Dyck, P. K. Thomas and E. H. Lambert. Philadelphia, W.B. Saunders
    • Dyck P. J. (1975) Inherited neural degeneration and atrophy affecting peripheral motor, sensory and autonomic neurons. Peripheral Neuropathy. P. J. Dyck, P. K. Thomas and E. H. Lambert. Philadelphia, W.B. Saunders.: 825-867.
    • (1975) Peripheral Neuropathy , pp. 825-867
    • Dyck, P.J.1
  • 13
    • 0014301249 scopus 로고
    • Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies
    • Dyck P. J. and Lambert E. H. (1968) Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies. Arch. Neurol. 18, 603-618.
    • (1968) Arch. Neurol. , vol.18 , pp. 603-618
    • Dyck, P.J.1    Lambert, E.H.2
  • 14
    • 0030736089 scopus 로고    scopus 로고
    • Transient expression of the neurofilament proteins NF-L and NF-M by Schwann cells is regulated by axonal contact
    • Fabrizi C, Kelly B. M., Gillespie C. S., et al. (1997) Transient expression of the neurofilament proteins NF-L and NF-M by Schwann cells is regulated by axonal contact. J. Neurosci. Res. 50, 291-299.
    • (1997) J. Neurosci. Res. , vol.50 , pp. 291-299
    • Fabrizi, C.1    Kelly, B.M.2    Gillespie, C.S.3
  • 15
    • 0028923245 scopus 로고
    • Crucial role for the myelin-associated glycoprotein in the maintenance of axon-myelin integrity
    • Fruttiger M., Montag D., Schachner M., and Martini R. (1995) Crucial role for the myelin-associated glycoprotein in the maintenance of axon-myelin integrity. Eur. J. Neurosci. 7, 511-515.
    • (1995) Eur. J. Neurosci. , vol.7 , pp. 511-515
    • Fruttiger, M.1    Montag, D.2    Schachner, M.3    Martini, R.4
  • 16
    • 0028283501 scopus 로고
    • Intermediate filaments: Structure, dynamics, function and disease
    • Fuchs E. and Weber K. (1994) Intermediate filaments: structure, dynamics, function and disease. Ann. Rev. Biochem. 63, 345-382.
    • (1994) Ann. Rev. Biochem. , vol.63 , pp. 345-382
    • Fuchs, E.1    Weber, K.2
  • 17
    • 0021076299 scopus 로고
    • Peroneal muscular atrophy. Part 2. Nerve biopsy studies
    • Gherardi R., Bouche P., Escourolle R., and Hauw J. J. (1983) Peroneal muscular atrophy. Part 2. Nerve biopsy studies. J. Neurol. Sci. 61, 401-416.
    • (1983) J. Neurol. Sci. , vol.61 , pp. 401-416
    • Gherardi, R.1    Bouche, P.2    Escourolle, R.3    Hauw, J.J.4
  • 18
    • 77957213144 scopus 로고
    • Extreme slowing of nerve conduction in peroneal muscular atrophy
    • Gilliatt R. W. and Thomas P. K. (1957) Extreme slowing of nerve conduction in peroneal muscular atrophy. Ann. Phys. Med. 4, 104-106.
    • (1957) Ann. Phys. Med. , vol.4 , pp. 104-106
    • Gilliatt, R.W.1    Thomas, P.K.2
  • 19
    • 0018942439 scopus 로고
    • The clinical features of hereditary motor and sensory neuropathy types I and II
    • Harding A. E. and Thomas P. K. (1980) The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 103, 259-280.
    • (1980) Brain , vol.103 , pp. 259-280
    • Harding, A.E.1    Thomas, P.K.2
  • 20
    • 0034526495 scopus 로고    scopus 로고
    • Dynamin and its role in membrane fission
    • Hinshaw J. E. (2000) Dynamin and its role in membrane fission. Annu. Rev. Cell Dev. Biol. 16, 483-519.
    • (2000) Annu. Rev. Cell Dev. Biol. , vol.16 , pp. 483-519
    • Hinshaw, J.E.1
  • 22
    • 31744448271 scopus 로고    scopus 로고
    • Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy
    • Jordanova A., Irobi J., Thomas F. P., et al. (2006) Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy. Nat. Genet. 38(2), 197-202.
    • (2006) Nat. Genet. , vol.38 , Issue.2 , pp. 197-202
    • Jordanova, A.1    Irobi, J.2    Thomas, F.P.3
  • 23
    • 9144242516 scopus 로고    scopus 로고
    • Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35
    • Jordanova A., Thomas F. P., Guergueltcheva V., et al. (2003) Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35. Am. J. Hum. Genet. 73, 1423-1430.
    • (2003) Am. J. Hum. Genet. , vol.73 , pp. 1423-1430
    • Jordanova, A.1    Thomas, F.P.2    Guergueltcheva, V.3
  • 24
    • 0034821895 scopus 로고    scopus 로고
    • Dominant intermediate charcot-marie-tooth neuropathy maps to chromosome 19p12-p13.2
    • Kennerson M. L., Zhu D., Gardner R. J., et al. (2001) Dominant intermediate charcot-marie-tooth neuropathy maps to chromosome 19p12-p13.2. Am. J. Hum. Genet. 69, 883-888.
    • (2001) Am. J. Hum. Genet. , vol.69 , pp. 883-888
    • Kennerson, M.L.1    Zhu, D.2    Gardner, R.J.3
  • 26
    • 2642583142 scopus 로고    scopus 로고
    • Improved detection of hydrophilic phosphopeptides using graphite powder microcolumns and mass spectrometry: Evidence for in vivo doubly phosphorylated dynamin I and dynamin III
    • Larsen M. R., Graham M. E., Robinson P. J., and Roepstorff P. (2004) Improved detection of hydrophilic phosphopeptides using graphite powder microcolumns and mass spectrometry: evidence for in vivo doubly phosphorylated dynamin I and dynamin III. Mol. Cell Proteomics 3, 456-465.
    • (2004) Mol. Cell Proteomics , vol.3 , pp. 456-465
    • Larsen, M.R.1    Graham, M.E.2    Robinson, P.J.3    Roepstorff, P.4
  • 27
    • 0017713471 scopus 로고
    • The peroneal muscular atrophy syndrome. Clinical, genetic, electrophysiological and nerve biopsy studies. Part 2. Observations on pathological changes in sural nerve biopsies
    • Madrid R., Bradley W. G., and Davis C. J. (1977) The peroneal muscular atrophy syndrome. Clinical, genetic, electrophysiological and nerve biopsy studies. Part 2. Observations on pathological changes in sural nerve biopsies. J. Neurol. Sci. 32, 91-122.
    • (1977) J. Neurol. Sci. , vol.32 , pp. 91-122
    • Madrid, R.1    Bradley, W.G.2    Davis, C.J.3
  • 28
    • 0035231837 scopus 로고    scopus 로고
    • Ultrastructural findings in the peripheral nerve in a family with the intermediate form of Charcot-Marie-Tooth disease
    • Malandrini A., Ceuterick C., Villanov M., et al. (2001) Ultrastructural findings in the peripheral nerve in a family with the intermediate form of Charcot-Marie-Tooth disease. J. Submicrosc. Cytol. Pathol. 33, 59-63.
    • (2001) J. Submicrosc. Cytol. Pathol. , vol.33 , pp. 59-63
    • Malandrini, A.1    Ceuterick, C.2    Villanov, M.3
  • 29
    • 0032810513 scopus 로고    scopus 로고
    • Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy
    • Mastaglia F. L., Nowak K. J., Stell R., et al. (1999) Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy. J. Neurol. Neurosurg. Psychiatry 67, 174-179.
    • (1999) J. Neurol. Neurosurg. Psychiatry , vol.67 , pp. 174-179
    • Mastaglia, F.L.1    Nowak, K.J.2    Stell, R.3
  • 30
    • 0033911099 scopus 로고    scopus 로고
    • Anew variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene
    • Mersiyanova I. V., Perepelov A. V., Polyakov A. V., et al., (2000) Anew variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. Am. J. Hum. Genet. 67, 37-46.
    • (2000) Am. J. Hum. Genet. , vol.67 , pp. 37-46
    • Mersiyanova, I.V.1    Perepelov, A.V.2    Polyakov, A.V.3
  • 31
    • 0037168759 scopus 로고    scopus 로고
    • Mutations in GDAP1: Autosomal recessive CMT with demyelination and axonopathy
    • Nelis E., Erdem S., Van Den Bergh P. Y., et al. (2002) Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy. Neurology 59, 1865-1872.
    • (2002) Neurology , vol.59 , pp. 1865-1872
    • Nelis, E.1    Erdem, S.2    Van Den Bergh, P.Y.3
  • 32
    • 0027723256 scopus 로고
    • Intermediate nerve conduction velocities define X-linked Charcot-Marie-Tooth neuropathy families
    • Nicholson G. and Nash J. (1993) Intermediate nerve conduction velocities define X-linked Charcot-Marie-Tooth neuropathy families. Neurology 43, 2558-2564.
    • (1993) Neurology , vol.43 , pp. 2558-2564
    • Nicholson, G.1    Nash, J.2
  • 33
    • 0031797442 scopus 로고    scopus 로고
    • Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families: Ten novel mutations
    • Nicholson G. A., Yeung L., and Corbett A. (1998) Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families: ten novel mutations. Neurology 51, 1412-1416.
    • (1998) Neurology , vol.51 , pp. 1412-1416
    • Nicholson, G.A.1    Yeung, L.2    Corbett, A.3
  • 34
    • 0021848011 scopus 로고
    • Hereditary motor-sensory neuropathy (HMSN): Possible X-linked dominant inheritance
    • Phillips L. H., Kelly T. E., Schnatterly P., and Parker D. (1985) Hereditary motor-sensory neuropathy (HMSN): Possible X-linked dominant inheritance. Neurology 35, 498-502.
    • (1985) Neurology , vol.35 , pp. 498-502
    • Phillips, L.H.1    Kelly, T.E.2    Schnatterly, P.3    Parker, D.4
  • 35
    • 0041808715 scopus 로고    scopus 로고
    • Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve
    • Previtali S. C., Zerega B., Sherman D. L., et al. (2003) Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve. Hum. Mol. Genet. 12, 1713-1723.
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 1713-1723
    • Previtali, S.C.1    Zerega, B.2    Sherman, D.L.3
  • 36
    • 0021795227 scopus 로고
    • Charcot-Marie-Tooth disease: Study of a large kinship with an intermediate form
    • Rossi A., Paradiso C., Cioni R., Rizzuto N., and Guazzi G.(1985) Charcot-Marie-Tooth disease: study of a large kinship with an intermediate form. J. Neurol. 232, 91-98.
    • (1985) J. Neurol. , vol.232 , pp. 91-98
    • Rossi, A.1    Paradiso, C.2    Cioni, R.3    Rizzuto, N.4    Guazzi, G.5
  • 37
    • 16944366517 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: Characterization of 14 Cx32 mutations in 35 families
    • Rouger H., LeGuern E., Birouk N., et al. (1997) Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families. Hum. Mutat. 10, 443-452.
    • (1997) Hum. Mutat. , vol.10 , pp. 443-452
    • Rouger, H.1    LeGuern, E.2    Birouk, N.3
  • 38
    • 0016158248 scopus 로고
    • Wide spectrum of motor conduction velocity in Charcot-Marie-Tooth disease. An anatomico-physiological interpretation
    • Salisachs P. (1974) Wide spectrum of motor conduction velocity in Charcot-Marie-Tooth disease. An anatomico-physiological interpretation. J. Neurol. Sci. 23, 25-31.
    • (1974) J. Neurol. Sci. , vol.23 , pp. 25-31
    • Salisachs, P.1
  • 39
    • 13844255953 scopus 로고    scopus 로고
    • Transgenic expression of human connexin32 in myelinating Schwann cells prevents demyelination in connexin32-null mice
    • Scherer S. S., Xu Y. T., Messing A., et al. (2005) Transgenic expression of human connexin32 in myelinating Schwann cells prevents demyelination in connexin32-null mice. J. Neurosci. 25, 1550-1559.
    • (2005) J. Neurosci. , vol.25 , pp. 1550-1559
    • Scherer, S.S.1    Xu, Y.T.2    Messing, A.3
  • 40
    • 1642407845 scopus 로고    scopus 로고
    • Regulation of connexin biosynthesis, assembly, gap junction formation, and removal
    • Segretain D. and Falk M. M. (2003) Regulation of connexin biosynthesis, assembly, gap junction formation, and removal. Biochem. Biophys. Acta. 1662, 3-21.
    • (2003) Biochem. Biophys. Acta , vol.1662 , pp. 3-21
    • Segretain, D.1    Falk, M.M.2
  • 41
    • 0037370916 scopus 로고    scopus 로고
    • Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy
    • Senderek J., Bergmann C., Ramaekers V. T., et al. (2003) Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy. Brain 126, 642-649.
    • (2003) Brain , vol.126 , pp. 642-649
    • Senderek, J.1    Bergmann, C.2    Ramaekers, V.T.3
  • 42
    • 0041821401 scopus 로고    scopus 로고
    • Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene
    • Sevilla T., Cuesta A., Chumillas M. J., et al. (2003) Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene. Brain 126, 2023-2033.
    • (2003) Brain , vol.126 , pp. 2023-2033
    • Sevilla, T.1    Cuesta, A.2    Chumillas, M.J.3
  • 43
    • 0042490494 scopus 로고    scopus 로고
    • Cdk5 is essential for synaptic vesicle endocyotosis
    • Tan T. C., Valova V. A., Malladi C. S., et al. (2003) Cdk5 is essential for synaptic vesicle endocyotosis. Nat. Cell Biol. 8, 701-710.
    • (2003) Nat. Cell Biol. , vol.8 , pp. 701-710
    • Tan, T.C.1    Valova, V.A.2    Malladi, C.S.3
  • 44
    • 0015990238 scopus 로고
    • Motor nerve conduction velocity in peroneal muscular atrophy: Evidence for genetic heterogeneity
    • Thomas P. K. and Calne D. B. (1974) Motor nerve conduction velocity in peroneal muscular atrophy: evidence for genetic heterogeneity. J. Neurol. Neurosurg. Psychiatry 37, 68-75.
    • (1974) J. Neurol. Neurosurg. Psychiatry , vol.37 , pp. 68-75
    • Thomas, P.K.1    Calne, D.B.2
  • 46
    • 0346668247 scopus 로고    scopus 로고
    • The large GTPase dynamin associates with the spindle midzone and is required for cytokinesis
    • Thompson H. M., Skop A. R., Euteneuer U., Meyer B. J., and McNiven M. A. (2002) The large GTPase dynamin associates with the spindle midzone and is required for cytokinesis. Curr. Biol. 12, 2111-2117.
    • (2002) Curr. Biol. , vol.12 , pp. 2111-2117
    • Thompson, H.M.1    Skop, A.R.2    Euteneuer, U.3    Meyer, B.J.4    McNiven, M.A.5
  • 47
    • 0034835050 scopus 로고    scopus 로고
    • Localization of the gene for the intermediate form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1
    • Verhoeven K., Villanova M., Rossi A., Malandrini A., De Jonghe P., and Timmerman V. (2001) Localization of the gene for the intermediate form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1. Am. J. Hum. Genet. 69, 889-894.
    • (2001) Am. J. Hum. Genet. , vol.69 , pp. 889-894
    • Verhoeven, K.1    Villanova, M.2    Rossi, A.3    Malandrini, A.4    De Jonghe, P.5    Timmerman, V.6
  • 49
    • 0142250822 scopus 로고    scopus 로고
    • Neurofilament transport in vivo minimally requires hetero-oligomer formation
    • Yuan A., Rao M. V., Kumar A., Julien J. P., and Nixon R. A. (2003) Neurofilament transport in vivo minimally requires hetero-oligomer formation. J. Neuroscience. 23, 9452-9458.
    • (2003) J. Neuroscience , vol.23 , pp. 9452-9458
    • Yuan, A.1    Rao, M.V.2    Kumar, A.3    Julien, J.P.4    Nixon, R.A.5
  • 50
    • 0141568962 scopus 로고    scopus 로고
    • Refined localization of dominant intermediate Charcot-Marie-Tooth neuropathy and exclusion of seven known candidate genes in the region
    • Zhu D., Kennerson M., Merory J., et al. (2003) Refined localization of dominant intermediate Charcot-Marie-Tooth neuropathy and exclusion of seven known candidate genes in the region. Neurogenetics 4, 179-183.
    • (2003) Neurogenetics , vol.4 , pp. 179-183
    • Zhu, D.1    Kennerson, M.2    Merory, J.3
  • 51
    • 0347090624 scopus 로고    scopus 로고
    • The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy
    • Zuchner S., Vorgerd M., Sindern E., and Schroder J. M. (2004) The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy. Neuromuscul. Disord. 14, 147-157.
    • (2004) Neuromuscul. Disord. , vol.14 , pp. 147-157
    • Zuchner, S.1    Vorgerd, M.2    Sindern, E.3    Schroder, J.M.4
  • 52
    • 20144366550 scopus 로고    scopus 로고
    • Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease
    • Zuchner S., Noureddine M., Kennerson M., et al. (2005) Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nat. Genet. 37, 289-294.
    • (2005) Nat. Genet. , vol.37 , pp. 289-294
    • Zuchner, S.1    Noureddine, M.2    Kennerson, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.