-
1
-
-
0001046663
-
Hereditary motor and sensory neuropathies
-
Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF, eds. Philadelphia: Saunders
-
Dyck PJ, Chance P, Lebo R, Carney JA. Hereditary motor and sensory neuropathies. In: Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF, eds. Peripheral neuropathy. Philadelphia: Saunders, 1993:1094-136.
-
(1993)
Peripheral Neuropathy
, pp. 1094-1136
-
-
Dyck, P.J.1
Chance, P.2
Lebo, R.3
Carney, J.A.4
-
2
-
-
0029863589
-
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: A European collaborative study
-
Nelis E, Van Broeckhoven C. Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur J Hum Genet 1996;4:25-33.
-
(1996)
Eur J Hum Genet
, vol.4
, pp. 25-33
-
-
Nelis, E.1
Van Broeckhoven, C.2
-
3
-
-
0031290336
-
Charcot-Marie-Tooth disease and related peripheral neuropathies
-
De Jonghe P, Timmerman V, Nelis E, Martin JJ, Van Broeckhoven C. Charcot-Marie-Tooth disease and related peripheral neuropathies. J Peripheral Nerv Syst 1997;2:370-87.
-
(1997)
J Peripheral Nerv Syst
, vol.2
, pp. 370-387
-
-
De Jonghe, P.1
Timmerman, V.2
Nelis, E.3
Martin, J.J.4
Van Broeckhoven, C.5
-
4
-
-
0026806349
-
Analysis of the DNA duplication 17p11.2 in Charcot-Marie-Tooth neuropathy type 1 pedigrees: Additional evidence for a third autosomal CMT1 locus
-
Chance PF, Matsunami N, Lensch MW, Smith B, Bird TD. Analysis of the DNA duplication 17p11.2 in Charcot-Marie-Tooth neuropathy type 1 pedigrees: additional evidence for a third autosomal CMT1 locus. Neurology 1992;42:2037-41.
-
(1992)
Neurology
, vol.42
, pp. 2037-2041
-
-
Chance, P.F.1
Matsunami, N.2
Lensch, M.W.3
Smith, B.4
Bird, T.D.5
-
5
-
-
0001215716
-
Inherited recurrent focal neuropathies
-
Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF, eds. Philadelphia: Saunders
-
Windebank AJ. Inherited recurrent focal neuropathies. In: Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF, eds. Peripheral neuropathy. Philadelphia: Saunders, 1993:1137-48.
-
(1993)
Peripheral Neuropathy
, pp. 1137-1148
-
-
Windebank, A.J.1
-
6
-
-
0029788204
-
Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy
-
Ionasescu VV, Searby C, Ionasescu R, Neuhaus IM, Werner R. Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy. Neurology 1996;47:541-4.
-
(1996)
Neurology
, vol.47
, pp. 541-544
-
-
Ionasescu, V.V.1
Searby, C.2
Ionasescu, R.3
Neuhaus, I.M.4
Werner, R.5
-
7
-
-
0025997898
-
Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT1a)
-
Raeymaekers P, Timmerman V, Nelis E, et al. Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). Neuromusc Disord 1991;1: 93-7.
-
(1991)
Neuromusc Disord
, vol.1
, pp. 93-97
-
-
Raeymaekers, P.1
Timmerman, V.2
Nelis, E.3
-
8
-
-
0026564694
-
Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type la (CMT 1a)
-
Raeymaekers P, Timmerman V, Nelis E, et al. Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type la (CMT 1a). J Med Genet 1992;29:5-11.
-
(1992)
J Med Genet
, vol.29
, pp. 5-11
-
-
Raeymaekers, P.1
Timmerman, V.2
Nelis, E.3
-
9
-
-
0025868571
-
DNA duplication associated with Charcot-Marie-Tooth disease type 1A
-
Lupski JR, Montes de Oca-Luna R, Slaugenhaupt S, et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 1991;66:219-39.
-
(1991)
Cell
, vol.66
, pp. 219-239
-
-
Lupski, J.R.1
De Montes Oca-Luna, R.2
Slaugenhaupt, S.3
-
10
-
-
0029007808
-
Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A (CMT1A) using molecular genetic techniques
-
Navon R, Timmerman V, Löfgren A, et al. Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A (CMT1A) using molecular genetic techniques. Prenat Diagn 1995;15: 633-40.
-
(1995)
Prenat Diagn
, vol.15
, pp. 633-640
-
-
Navon, R.1
Timmerman, V.2
Löfgren, A.3
-
11
-
-
0026879615
-
The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication
-
Timmerman V, Nelis E, Van Hul W, et al. The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication. Nat Genet 1992;1:171-5.
-
(1992)
Nat Genet
, vol.1
, pp. 171-175
-
-
Timmerman, V.1
Nelis, E.2
Van Hul, W.3
-
12
-
-
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
-
13
-
-
0028131591
-
Rapid screening of myelin genes in CMT1 patients by SSCP analysis: Identification of new mutations and polymorphisms in the P0 gene
-
Nelis E, Timmerman V, De Jonghe P, et al. Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene. Hum Genet 1994;94:653-7.
-
(1994)
Hum Genet
, vol.94
, pp. 653-657
-
-
Nelis, E.1
Timmerman, V.2
De Jonghe, P.3
-
14
-
-
0031021107
-
Mutation analysis of the connexin32 (Cx32) gene in Charcot-Marie-Tooth neuropathy type 1: Identification of five new mutations
-
Nelis E, Simokovic S, Timmerman V, et al. Mutation analysis of the connexin32 (Cx32) gene in Charcot-Marie-Tooth neuropathy type 1: identification of five new mutations. Hum Mutat 1997;9:47-52.
-
(1997)
Hum Mutat
, vol.9
, pp. 47-52
-
-
Nelis, E.1
Simokovic, S.2
Timmerman, V.3
-
15
-
-
0028073907
-
Regulation of tissue-specific expression of alternative peripheral myelin protein-22 (PMP22) gene transcripts by two promoters
-
Suter U, Snipes J, Schoener-Scott R, et al. Regulation of tissue-specific expression of alternative peripheral myelin protein-22 (PMP22) gene transcripts by two promoters. J Biol Chem 1994;269:25795-808.
-
(1994)
J Biol Chem
, vol.269
, pp. 25795-25808
-
-
Suter, U.1
Snipes, J.2
Schoener-Scott, R.3
-
16
-
-
0030469351
-
Comparison of single-strand conformation polymorphism and heteroduplex analysis for detection of mutations in Charcot-Marie-Tooth type 1 disease and related peripheral neuropathies
-
Nelis E, Warner LE, De Vriendt E, Chance PF, Lupski JR, Van Broeckhoven C. Comparison of single-strand conformation polymorphism and heteroduplex analysis for detection of mutations in Charcot-Marie-Tooth type 1 disease and related peripheral neuropathies. Eur J Hum Genet 1996;4:329-33.
-
(1996)
Eur J Hum Genet
, vol.4
, pp. 329-333
-
-
Nelis, E.1
Warner, L.E.2
De Vriendt, E.3
Chance, P.F.4
Lupski, J.R.5
Van Broeckhoven, C.6
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