-
1
-
-
0002896804
-
Sur une forme particulière d'atrophie musculaire progressive, souvent familiale, débutant par les pieds et les jambes et atteignant plus tard les mains
-
Charcot JM, Marie P. Sur une forme particulière d'atrophie musculaire progressive, souvent familiale, débutant par les pieds et les jambes et atteignant plus tard les mains. Rev Neurol 1886;6:97-138
-
(1886)
Rev Neurol
, vol.6
, pp. 97-138
-
-
Charcot, J.M.1
Marie, P.2
-
4
-
-
77957213144
-
Extreme slowing of nerve conduction in peroneal muscular atrophy
-
Gilliatt RW, Thomas PK. Extreme slowing of nerve conduction in peroneal muscular atrophy. Ann Phys Med 1957;15:104-7
-
(1957)
Ann Phys Med
, vol.15
, pp. 104-107
-
-
Gilliatt, R.W.1
Thomas, P.K.2
-
5
-
-
0014301249
-
Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiological findings in hereditary polyneuropathies
-
Dyck PJ, Lambert EH. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiological findings in hereditary polyneuropathies. Arch Neurol 1968;18:603-18
-
(1968)
Arch Neurol
, vol.18
, pp. 603-618
-
-
Dyck, P.J.1
Lambert, E.H.2
-
6
-
-
0014301112
-
Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. II. Neurologic, genetic, and electrophysiological findings in various neuronal degenerations
-
Dyck PJ, Lambert EH. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. II. Neurologic, genetic, and electrophysiological findings in various neuronal degenerations. Arch Neurol 1968;18:619-25
-
(1968)
Arch Neurol
, vol.18
, pp. 619-625
-
-
Dyck, P.J.1
Lambert, E.H.2
-
7
-
-
0016172719
-
Hereditary motor and sensory polyneuropathy (peroneal muscular atrophy)
-
Thomas PK, Calne DB, Steward G. Hereditary motor and sensory polyneuropathy (peroneal muscular atrophy). Ann Hum Genet 1974;38:111-53
-
(1974)
Ann Hum Genet
, vol.38
, pp. 111-153
-
-
Thomas, P.K.1
Calne, D.B.2
Steward, G.3
-
8
-
-
0037211466
-
The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene
-
Chaouch M, Allal Y, De Sandre-Giovannoli A, et al. The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene. Neuromuscul Disord 2003;13:60-67
-
(2003)
Neuromuscul Disord
, vol.13
, pp. 60-67
-
-
Chaouch, M.1
Allal, Y.2
De Sandre-Giovannoli, A.3
-
9
-
-
0036157054
-
Charcot-Marie-Tooth disease and related neuropathies: Mutation distribution and genotype-phenotype correlation
-
Boerkoel CF, Takashima H, Garcia CA, et al. Charcot-Marie-Tooth disease and related neuropathies: Mutation distribution and genotype-phenotype correlation. Ann Neurol 2002;51:190-201
-
(2002)
Ann Neurol
, vol.51
, pp. 190-201
-
-
Boerkoel, C.F.1
Takashima, H.2
Garcia, C.A.3
-
10
-
-
0018942439
-
The clinical features of hereditary motor and sensory neuropathy types I and II
-
Harding AE, Thomas PK. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 1980;103:259-80
-
(1980)
Brain
, vol.103
, pp. 259-280
-
-
Harding, A.E.1
Thomas, P.K.2
-
11
-
-
0033554313
-
Electrophysiologic features of inherited demyelinating neuropathies: A reappraisal
-
Lewis RA, Sumner AJ. Electrophysiologic features of inherited demyelinating neuropathies: A reappraisal. Ann N Y Acad Sci 1999:883:321-35
-
(1999)
Ann N Y Acad Sci
, vol.883
, pp. 321-335
-
-
Lewis, R.A.1
Sumner, A.J.2
-
12
-
-
0028917680
-
Muscle and intramuscular nerve pathology in congenital hypomyelination neuropathy
-
Nara T, Akashi M, Nonaka I, et al. Muscle and intramuscular nerve pathology in congenital hypomyelination neuropathy. J Neurol Sci 1995;129:170-74
-
(1995)
J Neurol Sci
, vol.129
, pp. 170-174
-
-
Nara, T.1
Akashi, M.2
Nonaka, I.3
-
14
-
-
0032918027
-
Implications des protéines myéliniques dans les neuropathies héréditaires
-
Sindou P, Anani T, Garbay B, Couratier P, Lagrange E, Vallat JM. Implications des protéines myéliniques dans les neuropathies héréditaires. Rev Neurol 1999;155:97-110
-
(1999)
Rev Neurol
, vol.155
, pp. 97-110
-
-
Sindou, P.1
Anani, T.2
Garbay, B.3
Couratier, P.4
Lagrange, E.5
Vallat, J.M.6
-
16
-
-
0034065232
-
On the molecular architecture of myelinated fibers
-
Arroyo EJ, Scherer SS. On the molecular architecture of myelinated fibers. Histochem Cell Biol 2000;131:1-18
-
(2000)
Histochem Cell Biol
, vol.131
, pp. 1-18
-
-
Arroyo, E.J.1
Scherer, S.S.2
-
17
-
-
0025868571
-
DNA duplication associated with Charcot-Marie-Tooth disease type 1A
-
Lupski JM, De Oca-Luna RM, Slaugenhaupt S, et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 1991;66:219-32
-
(1991)
Cell
, vol.66
, pp. 219-232
-
-
Lupski, J.M.1
De Oca-Luna, R.M.2
Slaugenhaupt, S.3
-
18
-
-
0029931697
-
Ultrastructural PMP22 expression in inherited demyelinating neuropathies
-
Vallat JM, Sindou P, Preux PM, et al. Ultrastructural PMP22 expression in inherited demyelinating neuropathies. Ann Neurol 1996;39:813-17
-
(1996)
Ann Neurol
, vol.39
, pp. 813-817
-
-
Vallat, J.M.1
Sindou, P.2
Preux, P.M.3
-
19
-
-
0029908245
-
Accumulation of peripheral myelin protein 22 in onion bulbs and Schwann cells of biopsied nerves from patients with Charcot-Marie-Tooth disease type 1A
-
Nishimura T, Yoshikawa H, Fujimura H, Sakoda S, Yanagihara T. Accumulation of peripheral myelin protein 22 in onion bulbs and Schwann cells of biopsied nerves from patients with Charcot-Marie-Tooth disease type 1A. Acta Neuropathol 1996;92:454-60
-
(1996)
Acta Neuropathol
, vol.92
, pp. 454-460
-
-
Nishimura, T.1
Yoshikawa, H.2
Fujimura, H.3
Sakoda, S.4
Yanagihara, T.5
-
20
-
-
0027314668
-
Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene
-
Roa BB, Garcia CA, Suter U, et al. Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene. N Engl J Med 1993;329:96-101
-
(1993)
N Engl J Med
, vol.329
, pp. 96-101
-
-
Roa, B.B.1
Garcia, C.A.2
Suter, U.3
-
21
-
-
0032840812
-
Expression of myelin proteins in the adult heterozygous Trembler mouse
-
Vallat JM, Sindou P, Garbay B, et al. Expression of myelin proteins in the adult heterozygous Trembler mouse. Acta Neuropathol 1999;98:281-87
-
(1999)
Acta Neuropathol
, vol.98
, pp. 281-287
-
-
Vallat, J.M.1
Sindou, P.2
Garbay, B.3
-
22
-
-
0031972929
-
Overloaded endoplasmic reticulum-golgi compartments, a possible pathomechanism of peripheral neuropathies caused by mutations of the peripheral myelin protein PMP22
-
D'Urso D, Prior R, Greiner-Petter R, Gabreëls-Festen AAWM, Mueller HW. Overloaded endoplasmic reticulum-golgi compartments, a possible pathomechanism of peripheral neuropathies caused by mutations of the peripheral myelin protein PMP22. J Neurosci 1998;18:731-40
-
(1998)
J Neurosci
, vol.18
, pp. 731-740
-
-
D'Urso, D.1
Prior, R.2
Greiner-Petter, R.3
Gabreëls-Festen, A.A.W.M.4
Mueller, H.W.5
-
23
-
-
0033134949
-
Peripheral myelin protein 22 and protein zero: A novel association in peripheral nervous system myelin
-
D'Urso D, Ehrhardt P, Müller HW. Peripheral myelin protein 22 and protein zero: A novel association in peripheral nervous system myelin. J Neurosci 1999;19:3396-3403
-
(1999)
J Neurosci
, vol.19
, pp. 3396-3403
-
-
D'Urso, D.1
Ehrhardt, P.2
Müller, H.W.3
-
24
-
-
0031799468
-
Clinical and pathological correlations in Charcot-Marie-Tooth neuropathy type 1A with the 17p11.2p12 duplication: A cross-sectional morphometric and immunohistochemical study in twenty cases
-
Fabrizi GM, Simonati A, Morbin M, et al. Clinical and pathological correlations in Charcot-Marie-Tooth neuropathy type 1A with the 17p11.2p12 duplication: A cross-sectional morphometric and immunohistochemical study in twenty cases. Muscle Nerve 1998;21:869-77
-
(1998)
Muscle Nerve
, vol.21
, pp. 869-877
-
-
Fabrizi, G.M.1
Simonati, A.2
Morbin, M.3
-
25
-
-
0028800889
-
Charcot-Marie-Tooth disease type 1A: Morphological phenotype of the 17p duplication versus PMP22 point mutations
-
Gabreëls-Festen AAWM, Bolhuis PA, Hoogendijk JE, Valentijn LJ, Eshuis EJHM, Gabreëls FJM. Charcot-Marie-Tooth disease type 1A: Morphological phenotype of the 17p duplication versus PMP22 point mutations. Acta Neuropathol 1995;90:645-9
-
(1995)
Acta Neuropathol
, vol.90
, pp. 645-649
-
-
Gabreëls-Festen, A.A.W.M.1
Bolhuis, P.A.2
Hoogendijk, J.E.3
Valentijn, L.J.4
Eshuis, E.J.H.M.5
Gabreëls, F.J.M.6
-
26
-
-
0032948050
-
Effects of PMP22 duplication and deletions on the axonal cytoskeleton
-
Sahenk Z, Chen L, Mendell JR. Effects of PMP22 duplication and deletions on the axonal cytoskeleton. Ann Neurol 1999;45:16-24
-
(1999)
Ann Neurol
, vol.45
, pp. 16-24
-
-
Sahenk, Z.1
Chen, L.2
Mendell, J.R.3
-
27
-
-
0033963592
-
Charcot-Marie-Tooth disease type 1: Molecular pathogenesis to gene therapy
-
Kamholz J, Menichella D, Jani A, et al. Charcot-Marie-Tooth disease type 1: Molecular pathogenesis to gene therapy. Brain 2000;123:222-33
-
(2000)
Brain
, vol.123
, pp. 222-233
-
-
Kamholz, J.1
Menichella, D.2
Jani, A.3
-
28
-
-
0030946228
-
Unexpected recovery in a newborn with severe hypomyelinating neuropathy
-
Levy BK, Fenton GA, Loaiza S, Hayat GR. Unexpected recovery in a newborn with severe hypomyelinating neuropathy. Pediatr Neurol 1997;16:245-48
-
(1997)
Pediatr Neurol
, vol.16
, pp. 245-248
-
-
Levy, B.K.1
Fenton, G.A.2
Loaiza, S.3
Hayat, G.R.4
-
29
-
-
0031041086
-
Congenital hypomyelinating neuropathy: A reversible case
-
Ghamdi M, Armstrong DL, Miller G. Congenital hypomyelinating neuropathy: A reversible case. Pediatr Neurol 1997;16:71-73
-
(1997)
Pediatr Neurol
, vol.16
, pp. 71-73
-
-
Ghamdi, M.1
Armstrong, D.L.2
Miller, G.3
-
30
-
-
0020073371
-
Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1
-
Bird TD, Ott J, Giblett ER. Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1. Am J Hum Gen 1982;34:388-94
-
(1982)
Am J Hum Gen
, vol.34
, pp. 388-394
-
-
Bird, T.D.1
Ott, J.2
Giblett, E.R.3
-
31
-
-
0030993366
-
Clinical and pathological phenotype of the original family with Charcot-Marie-Tooth type 1B: A 20-year study
-
Bird TD, Kraft GH, Lipe HP, Kenney KL, Sumi SM. Clinical and pathological phenotype of the original family with Charcot-Marie-Tooth type 1B: A 20-year study. Ann Neurol 1997;41:463-69
-
(1997)
Ann Neurol
, vol.41
, pp. 463-469
-
-
Bird, T.D.1
Kraft, G.H.2
Lipe, H.P.3
Kenney, K.L.4
Sumi, S.M.5
-
32
-
-
0033656848
-
Steroid responsive polyneuropathy in a family with a novel myelin protein zero mutation
-
Donaghy M, Sisodiya SM, Kennet R, McDonald B, Haites N, Bell C. Steroid responsive polyneuropathy in a family with a novel myelin protein zero mutation. J Neurol Neurosurg Psychiatry 2000;69:799-805
-
(2000)
J Neurol Neurosurg Psychiatry
, vol.69
, pp. 799-805
-
-
Donaghy, M.1
Sisodiya, S.M.2
Kennet, R.3
McDonald, B.4
Haites, N.5
Bell, C.6
-
33
-
-
0034660338
-
Absence of PO leads to the dysregulation of myelin gene expression and myelin morphogenesis
-
Xu W, Manichella D, Jiang H. Absence of PO leads to the dysregulation of myelin gene expression and myelin morphogenesis. J Neurosci Res 2000;60:714-24
-
(2000)
J Neurosci Res
, vol.60
, pp. 714-724
-
-
Xu, W.1
Manichella, D.2
Jiang, H.3
-
34
-
-
18344403570
-
Ultrastructural protein zero expression in Charcot-Marie-Tooth type 1B disease
-
Sindou P, Vallat JM, Chapon F. Ultrastructural protein zero expression in Charcot-Marie-Tooth type 1B disease. Muscle Nerve 1999;22:99-104
-
(1999)
Muscle Nerve
, vol.22
, pp. 99-104
-
-
Sindou, P.1
Vallat, J.M.2
Chapon, F.3
-
35
-
-
0041114444
-
Two divergent types of nerve pathology in patients with different PO mutations in Charcot-Marie-Tooth disease
-
Gabreëls-Festen AAWM, Hoogendijk JE, Meijerink PHS, et al. Two divergent types of nerve pathology in patients with different PO mutations in Charcot-Marie-Tooth disease. Neurology 1996;47: 761-65
-
(1996)
Neurology
, vol.47
, pp. 761-765
-
-
Gabreëls-Festen, A.A.W.M.1
Hoogendijk, J.E.2
Meijerink, P.H.S.3
-
36
-
-
0032857452
-
Peripheral myelin modification in CMT 1B correlates with MPZ gene mutations
-
Lagueny A, Latour P, Vital A, et al. Peripheral myelin modification in CMT 1B correlates with MPZ gene mutations. Neuromusc Dis 1999;9:361-67
-
(1999)
Neuromusc Dis
, vol.9
, pp. 361-367
-
-
Lagueny, A.1
Latour, P.2
Vital, A.3
-
37
-
-
0028069302
-
Uncompacted myelin lamellae in polyneuropathy, organomegaly, endocrinopathy, M-protein and skin changes syndrome. Ultrastructural study of peripheral nerve biopsy from 22 patients
-
Vital C, Gherardi R, Vital A, et al. Uncompacted myelin lamellae in polyneuropathy, organomegaly, endocrinopathy, M-protein and skin changes syndrome. Ultrastructural study of peripheral nerve biopsy from 22 patients. Acta Neuropathol 1994;87:302-7
-
(1994)
Acta Neuropathol
, vol.87
, pp. 302-307
-
-
Vital, C.1
Gherardi, R.2
Vital, A.3
-
38
-
-
0034120209
-
Myelin widenings and MGUS-IgA: An immunoelectron microscopic study
-
Vallat JM, Tabaraud F, Sindou P, Preux PM, Vandenberghe A, Steck A. Myelin widenings and MGUS-IgA: An immunoelectron microscopic study. Ann Neurol 2000;47:808-11
-
(2000)
Ann Neurol
, vol.47
, pp. 808-811
-
-
Vallat, J.M.1
Tabaraud, F.2
Sindou, P.3
Preux, P.M.4
Vandenberghe, A.5
Steck, A.6
-
39
-
-
0028079552
-
Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome
-
Thomas FP, Lebo RV, Rosoklija G, et al. Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome. Acta Neuropathol 1994;87:91-97
-
(1994)
Acta Neuropathol
, vol.87
, pp. 91-97
-
-
Thomas, F.P.1
Lebo, R.V.2
Rosoklija, G.3
-
41
-
-
0023194132
-
Congenital hypo- and hypermyelination neuropathy. Two cases
-
Vallat JM, Gil R, Leboutet MJ, Hugon J, Moulies D. Congenital hypo- and hypermyelination neuropathy. Two cases. Acta Neuropathol 1987;74:197-201
-
(1987)
Acta Neuropathol
, vol.74
, pp. 197-201
-
-
Vallat, J.M.1
Gil, R.2
Leboutet, M.J.3
Hugon, J.4
Moulies, D.5
-
42
-
-
0027504559
-
Dominantly inherited motor and sensory neuropathy with excessive myelin folding complex
-
Umehara F, Takenaga S, Nakagawa M, et al. Dominantly inherited motor and sensory neuropathy with excessive myelin folding complex. Acta Neuropathol 1993;86:602-8
-
(1993)
Acta Neuropathol
, vol.86
, pp. 602-608
-
-
Umehara, F.1
Takenaga, S.2
Nakagawa, M.3
-
43
-
-
0032947668
-
A novel MPZ gene mutation in dominantly inherited neuropathy with focally folded myelin sheaths
-
Nakagawa M, Suehara M, Saito A, et al. A novel MPZ gene mutation in dominantly inherited neuropathy with focally folded myelin sheaths. Neurology 1999;52:1271-75
-
(1999)
Neurology
, vol.52
, pp. 1271-1275
-
-
Nakagawa, M.1
Suehara, M.2
Saito, A.3
-
44
-
-
0034013018
-
Clinical syndromes associated with tomacula or myelin swellings in sural nerve biopsies
-
Sander S, Ouvrier RA, McLeod JG, Nicholson GA, Pollard JD. Clinical syndromes associated with tomacula or myelin swellings in sural nerve biopsies. J Neurol Neurosurg Psychiatry 2000;68:483-88
-
(2000)
J Neurol Neurosurg Psychiatry
, vol.68
, pp. 483-488
-
-
Sander, S.1
Ouvrier, R.A.2
McLeod, J.G.3
Nicholson, G.A.4
Pollard, J.D.5
-
45
-
-
0037435540
-
Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C
-
Street VA, Bennett CL, Goldy JD, et al. Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C. Neurology 2003;60:22-26
-
(2003)
Neurology
, vol.60
, pp. 22-26
-
-
Street, V.A.1
Bennett, C.L.2
Goldy, J.D.3
-
46
-
-
0031943222
-
Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies
-
Warner LE, Mancias P, Butler IJ, et al. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nat Genet 1998;18:382-84
-
(1998)
Nat Genet
, vol.18
, pp. 382-384
-
-
Warner, L.E.1
Mancias, P.2
Butler, I.J.3
-
47
-
-
0027502993
-
Linkage localization of X-linked Charcot-Marie-Tooth disease
-
Bergoffen J, Troffater J, Pericak-Vance MA, Haines JL, Chance PF, Fischbeck KH. Linkage localization of X-linked Charcot-Marie-Tooth disease. Am J Hum Genet 1993;52:312-18
-
(1993)
Am J Hum Genet
, vol.52
, pp. 312-318
-
-
Bergoffen, J.1
Troffater, J.2
Pericak-Vance, M.A.3
Haines, J.L.4
Chance, P.F.5
Fischbeck, K.H.6
-
48
-
-
0036789828
-
Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease
-
Paulson HL, Garbern JY, Hoban TF, et al. Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease. Ann Neurol 2002;52:429-34
-
(2002)
Ann Neurol
, vol.52
, pp. 429-434
-
-
Paulson, H.L.1
Garbern, J.Y.2
Hoban, T.F.3
-
49
-
-
0032171653
-
Connexin32-null mice develop demyelinating peripheral neuropathy
-
Scherer SS, Xu YT, Nelles E, Fischbeck K, Willecke K, Bone LJ. Connexin32-null mice develop demyelinating peripheral neuropathy. Glia 1998;24:8-20
-
(1998)
Glia
, vol.24
, pp. 8-20
-
-
Scherer, S.S.1
Xu, Y.T.2
Nelles, E.3
Fischbeck, K.4
Willecke, K.5
Bone, L.J.6
-
50
-
-
0035145831
-
Pathological findings in the X-linked form of Charcot-Marie-Tooth disease: A morphometric and ultrastructural analysis
-
Hahn AF, Ainsworth PJ, Bolton CF, Bilbao JM, Vallat JM. Pathological findings in the X-linked form of Charcot-Marie-Tooth disease: A morphometric and ultrastructural analysis. Acta Neuropathol 2001;101:129-39
-
(2001)
Acta Neuropathol
, vol.101
, pp. 129-139
-
-
Hahn, A.F.1
Ainsworth, P.J.2
Bolton, C.F.3
Bilbao, J.M.4
Vallat, J.M.5
-
51
-
-
12244278266
-
Phenotypic expression of a Pro 87 to Leu mutation in the connexine 32 gene in a large Swiss family with Charcot-Marie-Tooth neuropathy
-
in press
-
Kuntzer T, Dunand M, Schorderet DF, Vallat JM, Hahn AF, Bogousslavsky J. Phenotypic expression of a Pro 87 to Leu mutation in the connexine 32 gene in a large Swiss family with Charcot-Marie-Tooth neuropathy. J Neurol Sci 2003; in press.
-
(2003)
J Neurol Sci
-
-
Kuntzer, T.1
Dunand, M.2
Schorderet, D.F.3
Vallat, J.M.4
Hahn, A.F.5
Bogousslavsky, J.6
-
52
-
-
0032812156
-
X-linked dominant Charcot-Marie-Tooth neuropathy: Clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations
-
Senderek J, Hermanns B, Bergmann C, et al. X-linked dominant Charcot-Marie-Tooth neuropathy: Clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations. J Neurol Sci 1999;167:90-101
-
(1999)
J Neurol Sci
, vol.167
, pp. 90-101
-
-
Senderek, J.1
Hermanns, B.2
Bergmann, C.3
-
53
-
-
0034963370
-
Histopathological features of X-linked Charcot-Marie-Tooth disease in 8 patients from 6 families with different connexin 32 mutations
-
Vital A, Ferrer X, Lagueny A, et al. Histopathological features of X-linked Charcot-Marie-Tooth disease in 8 patients from 6 families with different connexin 32 mutations. J Periph Nerv Syst 2001;6:79-84
-
(2001)
J Periph Nerv Syst
, vol.6
, pp. 79-84
-
-
Vital, A.1
Ferrer, X.2
Lagueny, A.3
-
54
-
-
0032866609
-
Demyelinating X-linked Charcot-Marie-Tooth disease: Unusual electrophysiological findings
-
Tabaraud F, Lagrange E, Sindou P, Vandenberghe A, Levy N, Vallat JM. Demyelinating X-linked Charcot-Marie-Tooth disease: Unusual electrophysiological findings. Muscle Nerve 1999;22:1442-47
-
(1999)
Muscle Nerve
, vol.22
, pp. 1442-1447
-
-
Tabaraud, F.1
Lagrange, E.2
Sindou, P.3
Vandenberghe, A.4
Levy, N.5
Vallat, J.M.6
-
55
-
-
0022514979
-
X-linked neuropathy: Gene localization with DNA probes
-
Fischbeck KH, Ar Rushdi N, Pericak-Vance M, Rozear MP, Roses AD, Fryns JM. X-linked neuropathy: Gene localization with DNA probes. Ann Neurol 1986;20:527-32
-
(1986)
Ann Neurol
, vol.20
, pp. 527-532
-
-
Fischbeck, K.H.1
Ar Rushdi, N.2
Pericak-Vance, M.3
Rozear, M.P.4
Roses, A.D.5
Fryns, J.M.6
-
56
-
-
0023254209
-
Hereditary motor and sensory neuropathy X-linked: A half century follow up
-
Rozear MP, Pericak-Vance MA, Fischbeck K, et al. Hereditary motor and sensory neuropathy X-linked: A half century follow up. Neurology 1987;37:1460-65
-
(1987)
Neurology
, vol.37
, pp. 1460-1465
-
-
Rozear, M.P.1
Pericak-Vance, M.A.2
Fischbeck, K.3
-
57
-
-
0027270107
-
Hereditary motor and sensory neuropathy: HMSN type II (neuronal type) and X-linked HMSN
-
Hahn AF. Hereditary motor and sensory neuropathy: HMSN type II (neuronal type) and X-linked HMSN. Brain Pathol 1993;3:147-55
-
(1993)
Brain Pathol
, vol.3
, pp. 147-155
-
-
Hahn, A.F.1
-
58
-
-
0036819173
-
A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family
-
Georgiou DM, Zidar J, Korosec M, Middleton LT, Kyriakides T, Christodoulou K. A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family. Neurogenetics 2002;4:93-96
-
(2002)
Neurogenetics
, vol.4
, pp. 93-96
-
-
Georgiou, D.M.1
Zidar, J.2
Korosec, M.3
Middleton, L.T.4
Kyriakides, T.5
Christodoulou, K.6
-
59
-
-
0027317609
-
Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity
-
Ben Othmane K, Middleton LT, Loprest LJ, et al. Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity. Genomics 1993;17:370-75
-
(1993)
Genomics
, vol.17
, pp. 370-375
-
-
Ben Othmane, K.1
Middleton, L.T.2
Loprest, L.J.3
-
60
-
-
0035369084
-
Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bβ
-
Zhao C, Takita J, Tanaka Y, et al. Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bβ. Cell 2001; 105:587-97
-
(2001)
Cell
, vol.105
, pp. 587-597
-
-
Zhao, C.1
Takita, J.2
Tanaka, Y.3
-
61
-
-
0031470266
-
Linkage mapping of the gene for Charcot-Marie-Tooth disease type 2 to chromosome 1p (CMT2A) and the clinical features of CMT2A
-
Saito M, Hayashi Y, Suzuki T, Tanaka H, Hozumi I, Tsuji S. Linkage mapping of the gene for Charcot-Marie-Tooth disease type 2 to chromosome 1p (CMT2A) and the clinical features of CMT2A. Neurology 1997;49:1630-35
-
(1997)
Neurology
, vol.49
, pp. 1630-1635
-
-
Saito, M.1
Hayashi, Y.2
Suzuki, T.3
Tanaka, H.4
Hozumi, I.5
Tsuji, S.6
-
62
-
-
0035830380
-
Clinical and genetic study of a large Charcot-Marie-Tooth type 2A family from southern Italy
-
Muglia M, Zappia M, Timmerman V, et al. Clinical and genetic study of a large Charcot-Marie-Tooth type 2A family from southern Italy. Neurology 2001;56:100-103
-
(2001)
Neurology
, vol.56
, pp. 100-103
-
-
Muglia, M.1
Zappia, M.2
Timmerman, V.3
-
63
-
-
0029150128
-
Assignement of a second Charcot-Marie-Tooth type II locus to chromosome 3q
-
Kwon JM, Elliott JL, Yee WC, et al. Assignement of a second Charcot-Marie-Tooth type II locus to chromosome 3q. Am J Hum Genet 1995;57:853-58
-
(1995)
Am J Hum Genet
, vol.57
, pp. 853-858
-
-
Kwon, J.M.1
Elliott, J.L.2
Yee, W.C.3
-
64
-
-
0030928374
-
Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family
-
De Jonghe P, Timmerman V, FitzPatrick D, Spoelders P, Martin JJ, Van Broeckhoven C. Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family. J Neurol Neurosurg Psychiatry 1997;62:570-73
-
(1997)
J Neurol Neurosurg Psychiatry
, vol.62
, pp. 570-573
-
-
De Jonghe, P.1
Timmerman, V.2
FitzPatrick, D.3
Spoelders, P.4
Martin, J.J.5
Van Broeckhoven, C.6
-
65
-
-
0037371509
-
Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy
-
Verhoeven K, De Jonghe P, Coen K, et al. Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy. Am J Hum Genet 2003;72:722-27
-
(2003)
Am J Hum Genet
, vol.72
, pp. 722-727
-
-
Verhoeven, K.1
De Jonghe, P.2
Coen, K.3
-
66
-
-
0034727596
-
Phenotype-genotype correlations in a CMT2B family with refined 3q13-q22 locus
-
Auer-Grumbach M, De Jonghe P, Wagner K, Verhoeven K, Hartung HP, Timmerman V. Phenotype-genotype correlations in a CMT2B family with refined 3q13-q22 locus. Neurology 2000;55:1552-57
-
(2000)
Neurology
, vol.55
, pp. 1552-1557
-
-
Auer-Grumbach, M.1
De Jonghe, P.2
Wagner, K.3
Verhoeven, K.4
Hartung, H.P.5
Timmerman, V.6
-
67
-
-
0028356510
-
Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis
-
Dyck PJ, Litchy WJ, Minnerath S, et al. Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis. Ann Neurol 1994;35:608-15
-
(1994)
Ann Neurol
, vol.35
, pp. 608-615
-
-
Dyck, P.J.1
Litchy, W.J.2
Minnerath, S.3
-
68
-
-
0030011973
-
Genetic heterogeneity in Charcot-Marie-Tooth neuropathy type 2
-
Yoshioka R, Dyck PJ, Chance PF. Genetic heterogeneity in Charcot-Marie-Tooth neuropathy type 2. Neurology 1996;46:569-71
-
(1996)
Neurology
, vol.46
, pp. 569-571
-
-
Yoshioka, R.1
Dyck, P.J.2
Chance, P.F.3
-
69
-
-
0036226448
-
Charcot-Marie-Tooth disease type 2C: A distinct genetic entity. Clinical and molecular characterization of the first European family
-
Santoro L, Manganelli F, Di Maio L, et al. Charcot-Marie-Tooth disease type 2C: A distinct genetic entity. Clinical and molecular characterization of the first European family. Neuromusc Dis 2002;12:399-404
-
(2002)
Neuromusc Dis
, vol.12
, pp. 399-404
-
-
Santoro, L.1
Manganelli, F.2
Di Maio, L.3
-
70
-
-
0029831478
-
Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D)
-
Ionasescu V, Searby C, Sheffield VC, Roklina T, Nishimura D, Ionasescu R. Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D). Hum Mol Gen 1996;5:1373-75
-
(1996)
Hum Mol Gen
, vol.5
, pp. 1373-1375
-
-
Ionasescu, V.1
Searby, C.2
Sheffield, V.C.3
Roklina, T.4
Nishimura, D.5
Ionasescu, R.6
-
71
-
-
0033911099
-
A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene
-
Mersiyanova IV, Perepelov AV, Polyakov AV, et al. A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. Am J Hum Genet 2000;60:37-46
-
(2000)
Am J Hum Genet
, vol.60
, pp. 37-46
-
-
Mersiyanova, I.V.1
Perepelov, A.V.2
Polyakov, A.V.3
-
72
-
-
0035136847
-
Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E
-
De Jonghe P, Mersiyanova I, Nelis E, et al. Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E. Ann Neurol 2001;49:245-49
-
(2001)
Ann Neurol
, vol.49
, pp. 245-249
-
-
De Jonghe, P.1
Mersiyanova, I.2
Nelis, E.3
-
73
-
-
0031263931
-
Delayed maturation of regenerating myelinated axons in mice lacking neurofilaments
-
Zhu Q, Couillard-Després S, Julien JP. Delayed maturation of regenerating myelinated axons in mice lacking neurofilaments. Exp Neurol 1997;148:299-316
-
(1997)
Exp Neurol
, vol.148
, pp. 299-316
-
-
Zhu, Q.1
Couillard-Després, S.2
Julien, J.P.3
-
74
-
-
0034882062
-
A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21
-
Ismailov SM, Fedotov VP, Dadali EL, et al. A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21. Eur J Hum Genet 2001;9:646-50
-
(2001)
Eur J Hum Genet
, vol.9
, pp. 646-650
-
-
Ismailov, S.M.1
Fedotov, V.P.2
Dadali, E.L.3
-
75
-
-
15644377763
-
A new type of hereditary motor and sensory neuropathy linked to chromosome 3
-
Takashima H, Nakagawa M, Nakahara K, et al. A new type of hereditary motor and sensory neuropathy linked to chromosome 3. Ann Neurol 1997;41:771-80
-
(1997)
Ann Neurol
, vol.41
, pp. 771-780
-
-
Takashima, H.1
Nakagawa, M.2
Nakahara, K.3
-
76
-
-
0031842421
-
Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene
-
Marrosu MG, Vaccargiu S, Marrosu G, Vannelli A, Cianchetti C, Muntoni F. Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene. Neurology 1998;50:1397-1401
-
(1998)
Neurology
, vol.50
, pp. 1397-1401
-
-
Marrosu, M.G.1
Vaccargiu, S.2
Marrosu, G.3
Vannelli, A.4
Cianchetti, C.5
Muntoni, F.6
-
77
-
-
0033027371
-
Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene
-
Chapon F, Latour P, Diraison P, et al. Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene. J Neurol Neurosurg Psychiatry 1999;66:779-82
-
(1999)
J Neurol Neurosurg Psychiatry
, vol.66
, pp. 779-782
-
-
Chapon, F.1
Latour, P.2
Diraison, P.3
-
78
-
-
0032706596
-
Charcot-Marie-Tooth disease and related neuropathies: Molecular basis for distinction and diagnosis
-
Pareyson D. Charcot-Marie-Tooth disease and related neuropathies: Molecular basis for distinction and diagnosis. Muscle Nerve 1999;22:1498-1509
-
(1999)
Muscle Nerve
, vol.22
, pp. 1498-1509
-
-
Pareyson, D.1
-
79
-
-
0037224513
-
Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): A clinicopathological study of 205 Japanese patients
-
Hattori N, Yamamoto M, Yoshihara T, et al. Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): A clinicopathological study of 205 Japanese patients. Brain 2003;126:134-51
-
(2003)
Brain
, vol.126
, pp. 134-151
-
-
Hattori, N.1
Yamamoto, M.2
Yoshihara, T.3
-
80
-
-
0036247602
-
Understanding Schwann cell-neuron interactions: The key to Charcot-Marie-Tooth disease?
-
Maier M, Berger P, Suter U. Understanding Schwann cell-neuron interactions: The key to Charcot-Marie-Tooth disease? J Anat 2002;200:357-66
-
(2002)
J Anat
, vol.200
, pp. 357-366
-
-
Maier, M.1
Berger, P.2
Suter, U.3
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