-
1
-
-
0034821895
-
Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2
-
Kennerson ML, Zhu D, Gardner RJ, et al. Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2. Am J Hum Genet, 2001, 69: 883-888.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 883-888
-
-
Kennerson, M.L.1
Zhu, D.2
Gardner, R.J.3
-
2
-
-
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 VT, et al. Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy. Brain, 2003, 126(Pt 3): 642-649.
-
(2003)
Brain
, vol.126
, Issue.PART 3
, pp. 642-649
-
-
Senderek, J.1
Bergmann, C.2
Ramaekers, V.T.3
-
3
-
-
0035835749
-
PCR in the gene diagnosis in Charcot-Marie-Tooth disease
-
Xiao JF, Tang BS, Xia JH, et al. PCR in the gene diagnosis in Charcot-Marie-Tooth disease. Natl Med J Chin, 2001, 81: 138-141.
-
(2001)
Natl Med J Chin
, vol.81
, pp. 138-141
-
-
Xiao, J.F.1
Tang, B.S.2
Xia, J.H.3
-
4
-
-
0037390176
-
Mutation analysis of neurofilament-light gene in Chinese Charcot-Marie-Tooth disease
-
LUO W, Tang BS, Zhao GH, et al. Mutation analysis of neurofilament-light gene in Chinese Charcot-Marie-Tooth disease. Chin J Med Genet, 2003, 20: 169-170.
-
(2003)
Chin J Med Genet
, vol.20
, pp. 169-170
-
-
Luo, W.1
Tang, B.S.2
Zhao, G.H.3
-
5
-
-
2942745865
-
Cx32 gene mutation associated with X-linked recessive Charcot-Marie-Tooth disease
-
Tang BS, Luo W, Zhao GH, et al. Cx32 gene mutation associated with X-linked recessive Charcot-Marie-Tooth disease. Progress Nat Sci, 2003, 13: 475-477.
-
(2003)
Progress Nat Sci
, vol.13
, pp. 475-477
-
-
Tang, B.S.1
Luo, W.2
Zhao, G.H.3
-
6
-
-
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. The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. Nat Genet, 2002, 30: 22-25.
-
(2002)
Nat Genet
, vol.30
, pp. 22-25
-
-
Cuesta, A.1
Pedrola, L.2
Sevilla, T.3
-
7
-
-
18544385024
-
Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21
-
Baxter RV, Ben Othmane K, Rochelle JM, et al. Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nat Genet, 2002, 30: 21-22.
-
(2002)
Nat Genet
, vol.30
, pp. 21-22
-
-
Baxter, R.V.1
Ben Othmane, K.2
Rochelle, J.M.3
-
8
-
-
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, 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
-
9
-
-
0027491703
-
Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q
-
Ben Othmane K, Hentati F, Lennon F, et al. Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q. Hum Mol Genet, 1993, 2: 1625-1628.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1625-1628
-
-
Ben Othmane, K.1
Hentati, F.2
Lennon, F.3
-
10
-
-
0037168759
-
Mutations in GDAP1: Autosomal recessive CMT with demyelination and axonopathy
-
Nelis E, Erdem S, van den Bergh PY, 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.3
-
11
-
-
0037371253
-
CMT4A, identification of a Hispanic GDAP1 founder mutation
-
Boerkoel CF, Takashima H, Nakagawa M, et al. CMT4A, identification of a Hispanic GDAP1 founder mutation. Ann Neurol, 2003, 53: 400-405.
-
(2003)
Ann Neurol
, vol.53
, pp. 400-405
-
-
Boerkoel, C.F.1
Takashima, H.2
Nakagawa, M.3
|