-
1
-
-
0041525496
-
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
-
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
-
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
-
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
-
5
-
-
0021061363
-
Peroneal muscular atrophy. Part 1. Clinical and electrophysiological study
-
Bouche P., Gherardi R., Cathala H. P., Lhermitte F., and Castaigne P. (1983) Peroneal muscular atrophy. Part 1. Clinical and electrophysiological study. J. Neurol. Sci. 61, 389-399.
-
(1983)
J. Neurol. Sci.
, vol.61
, pp. 389-399
-
-
Bouche, P.1
Gherardi, R.2
Cathala, H.P.3
Lhermitte, F.4
Castaigne, P.5
-
6
-
-
0002896804
-
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
-
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
-
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
-
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
-
10
-
-
0030723591
-
Altered trafficking of mutant connexin 32
-
Issn: 0270-6474
-
Deschenes S. M., Walcott J. L., Wexler T. L., Scherer S. S., and Fischbeck K. H. (1997) Altered trafficking of mutant connexin 32. J. Neurosci. 17, 9077-9084, Issn: 0270-6474.
-
(1997)
J. Neurosci.
, vol.17
, pp. 9077-9084
-
-
Deschenes, S.M.1
Walcott, J.L.2
Wexler, T.L.3
Scherer, S.S.4
Fischbeck, K.H.5
-
11
-
-
13844272835
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
21
-
-
0030800454
-
Slow axonal transport: The subunit transport model
-
Hirokawa N., Terada S., Funakoshi T., and Takeda S. (1997) Slow axonal transport: the subunit transport model. Trends Cell Biol. 7, 384-388.
-
(1997)
Trends Cell Biol.
, vol.7
, pp. 384-388
-
-
Hirokawa, N.1
Terada, S.2
Funakoshi, T.3
Takeda, S.4
-
22
-
-
31744448271
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
45
-
-
2342574188
-
Dynamin 2 binds g_tubulin and participates in centrosome cohesion
-
Thompson H. M., Cao H., Chen J., Euteneuer U., and McNiven M. A. (2004) Dynamin 2 binds g_tubulin and participates in centrosome cohesion. Nat. Cell. Biol. 6, 335-342.
-
(2004)
Nat. Cell. Biol.
, vol.6
, pp. 335-342
-
-
Thompson, H.M.1
Cao, H.2
Chen, J.3
Euteneuer, U.4
McNiven, M.A.5
-
46
-
-
0346668247
-
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
-
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
-
48
-
-
18344399595
-
Charcot-Marie-Tooth disease: An intermediate form
-
Villanova M., Timmerman V., De Jonghe P., et al. (1998) Charcot-Marie-Tooth disease: an intermediate form. Neuromuscul. Disord. 8, 392, 393.
-
(1998)
Neuromuscul. Disord.
, vol.8
, pp. 392
-
-
Villanova, M.1
Timmerman, V.2
De Jonghe, P.3
-
49
-
-
0142250822
-
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
-
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
-
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
-
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
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