-
1
-
-
84882866259
-
Hereditary motor and sensory neuropathies: an overview of clinical, genetic, electrophysiologic, and pathologic features
-
Elsevier Saunders, Philadelphia, P.J. Dyck, P.K. Thomas (Eds.)
-
Shy M.E., Lupski J.R., Chance P., et al. Hereditary motor and sensory neuropathies: an overview of clinical, genetic, electrophysiologic, and pathologic features. Peripheral Neuropathy, 4th ed 2005, 1094-1136. Elsevier Saunders, Philadelphia. P.J. Dyck, P.K. Thomas (Eds.).
-
(2005)
Peripheral Neuropathy, 4th ed
, pp. 1094-1136
-
-
Shy, M.E.1
Lupski, J.R.2
Chance, P.3
-
2
-
-
0018942439
-
The clinical features of hereditary motor and sensory neuropathy type I and II
-
Harding A.E., Thomas P.K. The clinical features of hereditary motor and sensory neuropathy type I and II. Brain 1980, 103:259-280.
-
(1980)
Brain
, vol.103
, pp. 259-280
-
-
Harding, A.E.1
Thomas, P.K.2
-
3
-
-
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., Madrid R. The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsy studies. I. Clinical, genetic and electrophysiological findings and classification. J Genet Hum 1978, 26:311-349.
-
(1978)
J Genet Hum
, vol.26
, pp. 311-349
-
-
Davis, C.J.1
Bradley, W.G.2
Madrid, R.3
-
4
-
-
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., et al. Localization of the gene for the intermediate form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1. Am J Hum Genet 2001, 69:889-894.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 889-894
-
-
Verhoeven, K.1
Villanova, M.2
Rossi, A.3
-
5
-
-
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. Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nat Genet 2005, 37:289-294.
-
(2005)
Nat Genet
, vol.37
, pp. 289-294
-
-
Zuchner, S.1
Noureddine, M.2
Kennerson, M.3
-
6
-
-
67650066361
-
Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy
-
Claeys K.G., 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
-
7
-
-
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. Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy. Nat Genet 2006, 38:197-202.
-
(2006)
Nat Genet
, vol.38
, pp. 197-202
-
-
Jordanova, A.1
Irobi, J.2
Thomas, F.P.3
-
8
-
-
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. Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy. J Neurol Neurosurg Psychiatry 1999, 67:174-179.
-
(1999)
J Neurol Neurosurg Psychiatry
, vol.67
, pp. 174-179
-
-
Mastaglia, F.L.1
Nowak, K.J.2
Stell, R.3
-
9
-
-
34447260902
-
Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene
-
Miltenberger-Miltenyi G., Janecke A.R., Wanschitz J.V., et al. Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene. Arch Neurol 2007, 64:966-970.
-
(2007)
Arch Neurol
, vol.64
, pp. 966-970
-
-
Miltenberger-Miltenyi, G.1
Janecke, A.R.2
Wanschitz, J.V.3
-
10
-
-
0037168759
-
Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy
-
Nelis E., Erdem S., Van den Bergh P.Y.K., et al. Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy. Neurology 2002, 59:1865-1872.
-
(2002)
Neurology
, vol.59
, pp. 1865-1872
-
-
Nelis, E.1
Erdem, S.2
Van den Bergh, P.Y.K.3
-
11
-
-
0037370916
-
Mutations in the ganglioside-induced differention-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy
-
Senderek J., Bergmann C., Ramaekers V.T., et al. Mutations in the ganglioside-induced differention-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy. Brain 2003, 126:642-649.
-
(2003)
Brain
, vol.126
, pp. 642-649
-
-
Senderek, J.1
Bergmann, C.2
Ramaekers, V.T.3
-
12
-
-
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. Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families. Hum Mutat 1997, 10:443-452.
-
(1997)
Hum Mutat
, vol.10
, pp. 443-452
-
-
Rouger, H.1
LeGuern, E.2
Birouk, N.3
-
13
-
-
84882837398
-
Nerve conduction studies and needle electromyography
-
Elsevier Saunders, Philadelphia, P.J. Dyck, P.K. Thomas (Eds.)
-
Kimura J. Nerve conduction studies and needle electromyography. Peripheral Neuropathy, 4th ed 2005, 899-970. Elsevier Saunders, Philadelphia. P.J. Dyck, P.K. Thomas (Eds.).
-
(2005)
Peripheral Neuropathy, 4th ed
, pp. 899-970
-
-
Kimura, J.1
-
14
-
-
0035051016
-
Polymorphic short tandem repeats for diagnosis of Charcot-Marie-Tooth 1A duplication
-
Latour P., Boutrand L., Levy N., et al. Polymorphic short tandem repeats for diagnosis of Charcot-Marie-Tooth 1A duplication. Clin Chem 2001, 47:829-837.
-
(2001)
Clin Chem
, vol.47
, pp. 829-837
-
-
Latour, P.1
Boutrand, L.2
Levy, N.3
-
15
-
-
0029886532
-
Parametric and nonparametric linkage analysis: a unified multipoint approach
-
Kruglyak L., Daly M.J., Reeve-Daly M.P., et al. Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 1996, 58:1347-1363.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 1347-1363
-
-
Kruglyak, L.1
Daly, M.J.2
Reeve-Daly, M.P.3
-
16
-
-
0028877463
-
Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results
-
Lander E., Kruglyak L. Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet 1995, 11:241-247.
-
(1995)
Nat Genet
, vol.11
, pp. 241-247
-
-
Lander, E.1
Kruglyak, L.2
-
17
-
-
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. Ultrastructural findings in the peripheral nerve in a family with the intermediate form of Charcot-Marie-Tooth disease. J Submicrosc Cytol Pathol 2001, 33:59-63.
-
(2001)
J Submicrosc Cytol Pathol
, vol.33
, pp. 59-63
-
-
Malandrini, A.1
Ceuterick, C.2
Villanov, M.3
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