-
1
-
-
0014301249
-
Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic and electrophysiologic findings in hereditary polyneuropathies
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[1] Dyck P, Lambert E. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic and electrophysiologic findings in hereditary polyneuropathies. Arch Neurol 1968;18:603-18.
-
(1968)
Arch Neurol
, vol.18
, pp. 603-618
-
-
Dyck, P.1
Lambert, E.2
-
2
-
-
0026879615
-
The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication
-
[2] 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 1992:1:171-75.
-
(1992)
Nat Genet
, vol.1
, pp. 171-175
-
-
Timmerman, V.1
Nelis, E.2
Van Hul, W.3
-
3
-
-
0027108731
-
Denovo mutation in hereditary motor and sensory neuropathy type I
-
[3] Hoogendijk JE, Hensels GW, Gabreels-Festen AA et al. Denovo mutation in hereditary motor and sensory neuropathy type I. Lancet 1992:339:1081-82.
-
(1992)
Lancet
, vol.339
, pp. 1081-1082
-
-
Hoogendijk, J.E.1
Hensels, G.W.2
Gabreels-Festen, A.A.3
-
4
-
-
0027017033
-
Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit
-
[4] Pentao L, Wise CA, Chinault AC, Patel PI, Lupski JR. Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nat Genet 1992;2:292-300.
-
(1992)
Nat Genet
, vol.2
, pp. 292-300
-
-
Pentao, L.1
Wise, C.A.2
Chinault, A.C.3
Patel, P.I.4
Lupski, J.R.5
-
5
-
-
0026879648
-
The peripheral myelin gene PMP-22 GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A
-
[5] Valentijn LJ, Bolhuis PA, Zorn I et al. The peripheral myelin gene PMP-22 GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A. Nat Genet 1992;1:166-70.
-
(1992)
Nat Genet
, vol.1
, pp. 166-170
-
-
Valentijn, L.J.1
Bolhuis, P.A.2
Zorn, I.3
-
6
-
-
0025868571
-
DNA duplication associated with Charcot-Marie-Tooth disease type 1A
-
[6] Lupski JR, 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.R.1
De Oca-Luna, R.M.2
Slaugenhaupt, S.3
-
7
-
-
0025997898
-
Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1A (CMT 1A). The HMSN Collaborative Research Group
-
[7] Raeymackers P, Timmerman V, Nelis E et al. Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1A (CMT 1A). The HMSN Collaborative Research Group. Neuromuscul Disord 1991;1:93-97.
-
(1991)
Neuromuscul Disord
, vol.1
, pp. 93-97
-
-
Raeymackers, P.1
Timmerman, V.2
Nelis, E.3
-
8
-
-
0026734046
-
Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type 1A phenotype: Evidence for gene dosage as a mechanism in CMT1A
-
[8] Chance PF, Bird TD, Matsunami N, Lensch MW, Brothman AR, Feldman G M. Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type 1A phenotype: evidence for gene dosage as a mechanism in CMT1A. Neurology 1992;42:2295-99.
-
(1992)
Neurology
, vol.42
, pp. 2295-2299
-
-
Chance, P.F.1
Bird, T.D.2
Matsunami, N.3
Lensch, M.W.4
Brothman, A.R.5
Feldman, G.M.6
-
9
-
-
0027759563
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Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1A: Unequal nonsister chromatid exchange during spermatogenesis
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[9] Palau F, Lofgren A, De Jonghe P et al. Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis. Hum Mol Genet 1993;2:2031-35.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 2031-2035
-
-
Palau, F.1
Lofgren, A.2
De Jonghe, P.3
-
11
-
-
0027512552
-
Charcot-Marie-Tooth neuropathy type 1A with both duplication and non-duplication
-
[11] Ionasescu VV, Ionasescu R, Searby C, Barker DF. Charcot-Marie-Tooth neuropathy type 1A with both duplication and non-duplication. Hum Mol Genet 1993;2:405-10.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 405-410
-
-
Ionasescu, V.V.1
Ionasescu, R.2
Searby, C.3
Barker, D.F.4
-
12
-
-
0027381005
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Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion
-
[12] Zori RT, Lupski JR, Heju Z et al. Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion. Am J Med Genet 1993;47:504-11.
-
(1993)
Am J Med Genet
, vol.47
, pp. 504-511
-
-
Zori, R.T.1
Lupski, J.R.2
Heju, Z.3
-
13
-
-
0029944979
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Mosaicism for the CMT1A duplication suggests somatic reversion
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[13] Liehr T, Rautenstrauß B, Grehl H et al. Mosaicism for the CMT1A duplication suggests somatic reversion. Hum Genet 1996;98:22-28.
-
(1996)
Hum Genet
, vol.98
, pp. 22-28
-
-
Liehr, T.1
Rautenstrauß, B.2
Grehl, H.3
-
14
-
-
0000617458
-
Direct preparation of uncultured EDTA-treated or heparinized blood for interphase FISH analysis
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[14] Liehr T, Thoma K, Kammler K et al. Direct preparation of uncultured EDTA-treated or heparinized blood for interphase FISH analysis. Appl Cytogenetics 1995;21:185-88.
-
(1995)
Appl Cytogenetics
, vol.21
, pp. 185-188
-
-
Liehr, T.1
Thoma, K.2
Kammler, K.3
-
15
-
-
0028872907
-
1.5Mb deletion in Italian families with hereditary neuropathy with liability to pressure palsies
-
[15] Lorenzetti D, Pareyson D, Sghirlanzoni A et al. 1.5Mb deletion in Italian families with hereditary neuropathy with liability to pressure palsies. Am J Hum Genet 1995;56:91-98.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 91-98
-
-
Lorenzetti, D.1
Pareyson, D.2
Sghirlanzoni, A.3
-
16
-
-
0029962292
-
A recombination 'hot spot' responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element
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[16] Reiter L, Murakami T, Koeuth T et al. A recombination 'hot spot' responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. Nat Genet 1996;12:288-97.
-
(1996)
Nat Genet
, vol.12
, pp. 288-297
-
-
Reiter, L.1
Murakami, T.2
Koeuth, T.3
-
17
-
-
0017648231
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Peroneal muscular atrophy (PMA) and related disorders. I. Clinical manifestations as related to biopsy findings, nerve conduction and electromyography
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[17] Buchthal F, Behse F. Peroneal muscular atrophy (PMA) and related disorders. I. Clinical manifestations as related to biopsy findings, nerve conduction and electromyography. Brain 1977;100:41-66.
-
(1977)
Brain
, vol.100
, pp. 41-66
-
-
Buchthal, F.1
Behse, F.2
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