-
1
-
-
0016266593
-
Genetic and clinical aspects of Charcot-Marie-Tooth's disease
-
Skre H. Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin Genet 1974;6:98-118.
-
(1974)
Clin Genet
, vol.6
, pp. 98-118
-
-
Skre, H.1
-
2
-
-
0032940401
-
Study on the gene and phenotypic characterization of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33
-
Gabreëls-Festen A, van Beersum S, Eshuis L, LeGuern E, Gabreëls F, van Engelen B, et al. Study on the gene and phenotypic characterization of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33. J Neurol Neurosurg Psychiatry 1999;66:569-574.
-
(1999)
J Neurol Neurosurg Psychiatry
, vol.66
, pp. 569-574
-
-
Gabreëls-Festen, A.1
van Beersum, S.2
Eshuis, L.3
LeGuern, E.4
Gabreëls, F.5
van Engelen, B.6
-
3
-
-
84859406203
-
Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C
-
Yger, M, Stojkovic, T, Tardieu S, Maisonobe T, Brice A, Echaniz-Laguna A, et al. Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C. J Peripher Nerv Syst 2012;17:112-122. doi: 10.1111/j.1529-8027.2012.00382.x
-
(2012)
J Peripher Nerv Syst
, vol.17
, pp. 112-122
-
-
Yger, M.1
Stojkovic, T.2
Tardieu, S.3
Maisonobe, T.4
Brice, A.5
Echaniz-Laguna, A.6
-
4
-
-
84939000697
-
-
The Mutation Database of Inherited Peripheral NeuropathiesLast accessed November 20
-
The Mutation Database of Inherited Peripheral Neuropathies http://www.Molgen.ua.ac.be/CMTMutations/ Last accessed November 20, 2012.
-
(2012)
-
-
-
5
-
-
46149107703
-
Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster
-
Gosselin I, Thiffault I, Tétreault M, Chau V, Dicaire MJ, Loisel L, et al. Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster. Neuromuscul Disord 2008;18:483-492.
-
(2008)
Neuromuscul Disord
, vol.18
, pp. 483-492
-
-
Gosselin, I.1
Thiffault, I.2
Tétreault, M.3
Chau, V.4
Dicaire, M.J.5
Loisel, L.6
-
6
-
-
0030900182
-
A clinical, electrophysiologic, neuropathologic, and genetic study of two large Algerian families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease
-
Kessali M, Zemmouri R, Guilbot A, Maisonobe T, Brice A, LeGuern E, et al. A clinical, electrophysiologic, neuropathologic, and genetic study of two large Algerian families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease. Neurology 1997;48:867-873.
-
(1997)
Neurology
, vol.48
, pp. 867-873
-
-
Kessali, M.1
Zemmouri, R.2
Guilbot, A.3
Maisonobe, T.4
Brice, A.5
LeGuern, E.6
-
7
-
-
33745994264
-
A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes
-
Gooding R, Colomer J, King R, Angelicheva D, Marns L, Parman Y, et al. A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes. J Med Genet 2005;42:e69.
-
(2005)
J Med Genet
, vol.42
, pp. e69
-
-
Gooding, R.1
Colomer, J.2
King, R.3
Angelicheva, D.4
Marns, L.5
Parman, Y.6
-
8
-
-
34247571924
-
The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4
-
Claramunt R, Sevilla T, Lupo V, Cuesta A, Millan JM, Vilchez JJ, et al. The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4. Clin Genet 2007;71:343-349.
-
(2007)
Clin Genet
, vol.71
, pp. 343-349
-
-
Claramunt, R.1
Sevilla, T.2
Lupo, V.3
Cuesta, A.4
Millan, J.M.5
Vilchez, J.J.6
-
9
-
-
0029849358
-
Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33
-
LeGuern E, Guilbot A, Kessali M, Ravise N, Tassin J, Maisonobe T, et al. Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33. Hum Mol Genet 2006;5:1685-1688.
-
(2006)
Hum Mol Genet
, vol.5
, pp. 1685-1688
-
-
LeGuern, E.1
Guilbot, A.2
Kessali, M.3
Ravise, N.4
Tassin, J.5
Maisonobe, T.6
-
10
-
-
0242522455
-
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy
-
Senderek J, Bergmann C, Stendel C, Kirfel J, Verpoorten N, De Jonghe P, et al. Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. Am J Hum Genet 2003;73:1106-1119.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 1106-1119
-
-
Senderek, J.1
Bergmann, C.2
Stendel, C.3
Kirfel, J.4
Verpoorten, N.5
De Jonghe, P.6
-
11
-
-
0033554352
-
The autosomal recessive form of CMT disease linked to 5q31-q33
-
Guilbot A, Kessali M, Ravise N, Hammadouche T, Bouhouche A, Maisonobe T, et al. The autosomal recessive form of CMT disease linked to 5q31-q33. Ann N Y Acad Sci 1999;883:453-456.
-
(1999)
Ann N Y Acad Sci
, vol.883
, pp. 453-456
-
-
Guilbot, A.1
Kessali, M.2
Ravise, N.3
Hammadouche, T.4
Bouhouche, A.5
Maisonobe, T.6
-
12
-
-
33748309354
-
Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations
-
Azzedine H, Ravise, N, Verny C, Gabrëels-Festen A, Lammens M, Grid D, et al. Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations. Neurology 2006;67:602-606.
-
(2006)
Neurology
, vol.67
, pp. 602-606
-
-
Azzedine, H.1
Ravise, N.2
Verny, C.3
Gabrëels-Festen, A.4
Lammens, M.5
Grid, D.6
-
13
-
-
33746222068
-
Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2
-
Colomer J, Gooding R, Angelicheva D, King RH, Guillen-Navarro E, Parman Y, et al. Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2. Neuromuscul Disord 2006;16:449-453.
-
(2006)
Neuromuscul Disord
, vol.16
, pp. 449-453
-
-
Colomer, J.1
Gooding, R.2
Angelicheva, D.3
King, R.H.4
Guillen-Navarro, E.5
Parman, Y.6
-
14
-
-
0003499342
-
-
Medical Research Council MR. London: Her Majesty's Stationary Office
-
Medical Research Council MR. Aid to the examination of the peripheral nervous system. London: Her Majesty's Stationary Office; 1976.
-
(1976)
Aid to the examination of the peripheral nervous system
-
-
-
15
-
-
0030947027
-
Treatment of inclusion-body myositis with IVIg: a double-blind, placebo-controlled study
-
Dalakas MC, Sonies B, Dambrosia J, Sekul E, Cupler E, Sivakumar K. Treatment of inclusion-body myositis with IVIg: a double-blind, placebo-controlled study. Neurology 1997;48:712-716.
-
(1997)
Neurology
, vol.48
, pp. 712-716
-
-
Dalakas, M.C.1
Sonies, B.2
Dambrosia, J.3
Sekul, E.4
Cupler, E.5
Sivakumar, K.6
-
16
-
-
63749100101
-
The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy
-
Houlden H, Laura M, Ginsberg L, Jungbluth H, Robb SA, Blake J, et al. The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy. Neuromusc Disord 2009;19:264-269.
-
(2009)
Neuromusc Disord
, vol.19
, pp. 264-269
-
-
Houlden, H.1
Laura, M.2
Ginsberg, L.3
Jungbluth, H.4
Robb, S.A.5
Blake, J.6
-
17
-
-
37349051369
-
Spinal deformities in hereditary motor and sensory neuropathy: a retrospective qualitative, quantitative, genotypical, and familial analysis of 175 patients
-
Horacek O, Mazanec R, Morris CE, Kobesova A. Spinal deformities in hereditary motor and sensory neuropathy: a retrospective qualitative, quantitative, genotypical, and familial analysis of 175 patients. Spine 2007;32:2502-2508.
-
(2007)
Spine
, vol.32
, pp. 2502-2508
-
-
Horacek, O.1
Mazanec, R.2
Morris, C.E.3
Kobesova, A.4
-
18
-
-
77950620209
-
Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4C
-
Roberts RC, Peden AA, Buss F, Bright NA, Latoube M, Reilly M, et al. Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4C. Hum Mol Genet 2010;19:1009-1018.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 1009-1018
-
-
Roberts, R.C.1
Peden, A.A.2
Buss, F.3
Bright, N.A.4
Latoube, M.5
Reilly, M.6
|