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Hereditary motor and sensory neuropathies
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From the syndrome of Charcot-Marie-Tooth to disorders of peripheral myelin proteins
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4
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Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a(CMT 1a)
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Raeymaekers P, Timmerman V, Nelis E, et al and the HMSN Collaborative Research Group. Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a(CMT 1a). Neuromusc Disord 1991;1:93-7.
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0026564694
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Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a)
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Raeymaekers P, Timmerman V, Nelis E, et al and the HMSN Collaborative Research Group. Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). J Med Genet 1992; 29:5-11.
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DNA duplication associated with Charcot-Marie-Tooth disease type 1a
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Lupski, J.R.1
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7
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0027017033
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Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5Mb monomere unit
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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 1.5Mb monomere unit. Nat Genet 1992;2:292-300.
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Pentao, L.1
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8
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0027509953
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DNA deletion associated with hereditary neuropathy with liability to pressure palsies
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Chance PF, Alderson MK, Leppig KA, et al. DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 1993;72:143-51.
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Chance, P.F.1
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9
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0027972378
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Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17
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Chance PF, Abbas N, Lensch NW, et al. Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum Mol Genet 1994;3:223-8.
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Chance, P.F.1
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10
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0027976968
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Detection of deletion within 17p11.2 in 7 French families with hereditary neuropathy with liability to pressure palsies (HNPP)
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LeGuern E, Sturz F, Gugenheim M, et al. Detection of deletion within 17p11.2 in 7 French families with hereditary neuropathy with liability to pressure palsies (HNPP). Cytogenet Cell Genet 1994;65:261-1.
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LeGuern, E.1
Sturz, F.2
Gugenheim, M.3
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11
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0028872907
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A 15 Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies
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Lorenzetti D, Pareyson D, Sghirlanzoni A, et al. A 15 Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies. Am J Hum Genet 1995;56:91-8.
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Lorenzetti, D.1
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12
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Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: A European collaborative study
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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.
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Nelis, E.1
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13
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0026879838
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Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A
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Matsunami, N.1
Smith, B.2
Ballard, L.3
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14
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0026879614
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The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A
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Patel PI, Roa BB, Welcher AA, et al. The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nat Genet 1992;1: 159-65.
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Patel, P.I.1
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15
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0026879615
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The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication
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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.
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Timmerman, V.1
Nelis, E.2
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16
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0026879648
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The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A
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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.
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Valentijn, L.J.1
Bolhuis, P.A.2
Zorn, I.3
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