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Volumn 9, Issue 2, 1999, Pages 327-341

Inherited neuropathies: From gene to disease

Author keywords

[No Author keywords available]

Indexed keywords

MYELIN PROTEIN;

EID: 0032898662     PISSN: 10156305     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1750-3639.1999.tb00230.x     Document Type: Conference Paper
Times cited : (33)

References (134)
  • 1
    • 0028784820 scopus 로고
    • Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice
    • Adlkofer K, Martini R, Aguzzi A, Zielasek J, Toyka KV, Suter U (1995) Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice. Nat Genet, 11: 274-280
    • (1995) Nat Genet , vol.11 , pp. 274-280
    • Adlkofer, K.1    Martini, R.2    Aguzzi, A.3    Zielasek, J.4    Toyka, K.V.5    Suter, U.6
  • 2
    • 0005046359 scopus 로고
    • Relation of hereditary pattern to clinical severity as illustrated by peroneal atrophy
    • Allan W (1939) Relation of hereditary pattern to clinical severity as illustrated by peroneal atrophy. Arch Intern Med, 63: 1123-1131
    • (1939) Arch Intern Med , vol.63 , pp. 1123-1131
    • Allan, W.1
  • 8
    • 0021013854 scopus 로고
    • Genetic linkage evidence for heterogeneity in Charcot-Marie-Tooth neuropathy (HMSN type I)
    • Bird TD, Ott J, Giblett ER, Chance PF, Sumi SM, Kraft GH (1983) Genetic linkage evidence for heterogeneity in Charcot-Marie-Tooth neuropathy (HMSN type I). Ann Neurol, 14: 679-684
    • (1983) Ann Neurol , vol.14 , pp. 679-684
    • Bird, T.D.1    Ott, J.2    Giblett, E.R.3    Chance, P.F.4    Sumi, S.M.5    Kraft, G.H.6
  • 9
    • 0030030169 scopus 로고    scopus 로고
    • Prevalence and origin of de novo duplications in CharcotMarie-Tooth disease type 1A: First report of a de novo duplication with a maternal origin
    • Blair IP, Nash J, Gordon MJ, Nicholson GA (1996) Prevalence and origin of de novo duplications in CharcotMarie-Tooth disease type 1A: first report of a de novo duplication with a maternal origin. Am J Hum Genet, 58: 472-476
    • (1996) Am J Hum Genet , vol.58 , pp. 472-476
    • Blair, I.P.1    Nash, J.2    Gordon, M.J.3    Nicholson, G.A.4
  • 10
    • 0030015647 scopus 로고    scopus 로고
    • Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing
    • Bolino A, Brancolini V, Bono F, Bruni A, Gambardella A, Romeo G, Quattrone A, Devoto M (1996) Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing. Hum Mol Genet, 5: 1051-1054
    • (1996) Hum Mol Genet , vol.5 , pp. 1051-1054
    • Bolino, A.1    Brancolini, V.2    Bono, F.3    Bruni, A.4    Gambardella, A.5    Romeo, G.6    Quattrone, A.7    Devoto, M.8
  • 13
    • 0031044996 scopus 로고    scopus 로고
    • Connexins, gap junctions and cell-cell signalling in the nervous system
    • Bruzzone R, Ressot C (1997) Connexins, gap junctions and cell-cell signalling in the nervous system. Eur J Neurosci, 9: 1-6
    • (1997) Eur J Neurosci , vol.9 , pp. 1-6
    • Bruzzone, R.1    Ressot, C.2
  • 14
    • 0024518749 scopus 로고
    • A comprehensive genetic map of murine chromosome 11 reveals extensive linkage conservation between mouse and human
    • Buchberg AM, Brownell E, Nagata S, Jenkins NA, Copeland NG (1989) A comprehensive genetic map of murine chromosome 11 reveals extensive linkage conservation between mouse and human. Genetics, 122: 153-161
    • (1989) Genetics , vol.122 , pp. 153-161
    • Buchberg, A.M.1    Brownell, E.2    Nagata, S.3    Jenkins, N.A.4    Copeland, N.G.5
  • 15
    • 0027972378 scopus 로고
    • Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17
    • Chance PF, Abbas N, Lensch MW, Pentao L, Roa BB, Patel PI, Lupski JR (1994) Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum Mol Genet, 3: 223-228
    • (1994) Hum Mol Genet , vol.3 , pp. 223-228
    • Chance, P.F.1    Abbas, N.2    Lensch, M.W.3    Pentao, L.4    Roa, B.B.5    Patel, P.I.6    Lupski, J.R.7
  • 17
    • 0026734046 scopus 로고
    • Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type 1A phenotype: Evidence for gene dosage as a mechanism in CMT1A
    • Chance PF, Bird TD, Matsunami N, Lensch MW, Brothman AR, Feldman GM (1992) Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type 1A phenotype: evidence for gene dosage as a mechanism in CMT1A. Neurology, 42: 2295-2299
    • (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
  • 18
    • 0025224806 scopus 로고
    • Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I)
    • Chance PF, Bird TD, O'Connell P, Lipe H, Lalouel JM, Leppert M (1990) Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I). Am J Hum Genet, 47: 915-925
    • (1990) Am J Hum Genet , vol.47 , pp. 915-925
    • Chance, P.F.1    Bird, T.D.2    O'Connell, P.3    Lipe, H.4    Lalouel, J.M.5    Leppert, M.6
  • 19
    • 0027997765 scopus 로고
    • Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: Two distinct genetic disorders
    • Chance PF, Lensch MW, Lipe H, Brown RH, Sr., Brown RH, Jr., Bird TD (1994) Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct genetic disorders. Neurology, 44: 2253-2257
    • (1994) Neurology , vol.44 , pp. 2253-2257
    • Chance, P.F.1    Lensch, M.W.2    Lipe, H.3    Brown R.H., Sr.4    Brown R.H., Jr.5    Bird, T.D.6
  • 22
    • 0001046663 scopus 로고
    • Hereditary motor and sensory neuropathies
    • P.J. Dyck, P.J. Thomas, J.W. Griffin, P.A. Low and J.F. Poduslo (Eds.), WB Saunders, Philadelphia
    • Dyck PJ, Chance PF, Lebo RV, Carney JA, Hereditary motor and sensory neuropathies. In P.J. Dyck, P.J. Thomas, J.W. Griffin, P.A. Low and J.F. Poduslo (Eds.), Peripheral Neuropathy, WB Saunders, Philadelphia, 1993, pp. 1094-1136
    • (1993) Peripheral Neuropathy , pp. 1094-1136
    • Dyck, P.J.1    Chance, P.F.2    Lebo, R.V.3    Carney, J.A.4
  • 24
    • 0020510096 scopus 로고
    • Linkage evidence for genetic heterogeneity among kinships with hereditary motor and sensory neuropathy, type I
    • Dyck PJ, Ott J, Moore SB, Swanson CJ, Lambert EH (1983) Linkage evidence for genetic heterogeneity among kinships with hereditary motor and sensory neuropathy, type I. Mayo Clin Proc, 58: 430-435
    • (1983) Mayo Clin Proc , vol.58 , pp. 430-435
    • Dyck, P.J.1    Ott, J.2    Moore, S.B.3    Swanson, C.J.4    Lambert, E.H.5
  • 25
    • 0019494495 scopus 로고
    • Intensive evaluation of referred unclassified neuropathies yields improved diagnosis
    • Dyck PJ, Oviatt KF, Lambert EH (1981) Intensive evaluation of referred unclassified neuropathies yields improved diagnosis. Ann Neurol, 10: 222-226
    • (1981) Ann Neurol , vol.10 , pp. 222-226
    • Dyck, P.J.1    Oviatt, K.F.2    Lambert, E.H.3
  • 26
    • 0028082335 scopus 로고
    • Refined genetic mapping of X-linked Charcot-Marie-Tooth neuropathy
    • Fain PR, Barker DF, Chance PF (1994) Refined genetic mapping of X-linked Charcot-Marie-Tooth neuropathy. Am J Hum Genet, 54: 229-235
    • (1994) Am J Hum Genet , vol.54 , pp. 229-235
    • Fain, P.R.1    Barker, D.F.2    Chance, P.F.3
  • 28
    • 65749318026 scopus 로고
    • Two new mutants, "trembler" and "reeler" with neurological actions in the mouse (Mus musculus L.)
    • Falconer DS (1951) Two new mutants, "Trembler" and "Reeler" with neurological actions in the mouse (Mus musculus L.). J Genet, 50: 192-201
    • (1951) J Genet , vol.50 , pp. 192-201
    • Falconer, D.S.1
  • 31
    • 0018962193 scopus 로고
    • Sex-linked recessive inheritance in Charcot-Marie-tooth disease with partial clinical manifestations in female carriers
    • Fryns JP, Van den Berghe H (1980) Sex-linked recessive inheritance in Charcot-Marie-tooth disease with partial clinical manifestations in female carriers. Hum Genet, 55: 413-415
    • (1980) Hum Genet , vol.55 , pp. 413-415
    • Fryns, J.P.1    Van Den Berghe, H.2
  • 34
    • 0031471867 scopus 로고    scopus 로고
    • Gene dosage effects in hereditary peripheral neuropathy. Expression of peripheral myelin protein 22 in Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies nerve biopsies
    • Gabriel JM, Erne B, Pareyson D, Sghirlanzoni A, Taroni F, Steck AJ (1997) Gene dosage effects in hereditary peripheral neuropathy. Expression of peripheral myelin protein 22 in Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies nerve biopsies. Neurology, 49: 1635-1640
    • (1997) Neurology , vol.49 , pp. 1635-1640
    • Gabriel, J.M.1    Erne, B.2    Pareyson, D.3    Sghirlanzoni, A.4    Taroni, F.5    Steck, A.J.6
  • 35
    • 0021908106 scopus 로고
    • X-linked dominant Charcot-Marie-Tooth disease: Suggestion of linkage with a cloned DNA sequence from the proximal Xq
    • Gal A, Mucke J, Theile H, Wieacker PF, Ropers HH, Wienker TF (1985) X-linked dominant Charcot-Marie-Tooth disease: suggestion of linkage with a cloned DNA sequence from the proximal Xq. Hum Genet, 70: 38-42
    • (1985) Hum Genet , vol.70 , pp. 38-42
    • Gal, A.1    Mucke, J.2    Theile, H.3    Wieacker, P.F.4    Ropers, H.H.5    Wienker, T.F.6
  • 37
    • 0028148430 scopus 로고
    • Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: Two distinct clinical, electrophysiologic, and genetic entities
    • Gouider R, LeGuern E, Emile J, Tardieu S, Cabon F, Samid M, Weissenbach J, Agid Y, Bouche P, Brice A (1994) Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct clinical, electrophysiologic, and genetic entities. Neurology, 44: 2250-2252
    • (1994) Neurology , vol.44 , pp. 2250-2252
    • Gouider, R.1    LeGuern, E.2    Emile, J.3    Tardieu, S.4    Cabon, F.5    Samid, M.6    Weissenbach, J.7    Agid, Y.8    Bouche, P.9    Brice, A.10
  • 38
    • 0018949405 scopus 로고
    • Genetic aspects of hereditary motor and sensory neuropathy (types I and II)
    • Harding AE, Thomas PK (1980) Genetic aspects of hereditary motor and sensory neuropathy (types I and II). J Med Genet, 17: 329-336
    • (1980) J Med Genet , vol.17 , pp. 329-336
    • Harding, A.E.1    Thomas, P.K.2
  • 41
    • 0025833803 scopus 로고
    • Isolation and sequence determination of cDNA encoding the major structural protein of human peripheral myelin
    • Hayasaka K, Nanao K, Tahara M, Sato W, Takada G, Miura M, Uyemura K (1991) Isolation and sequence determination of cDNA encoding the major structural protein of human peripheral myelin. Biochem Biophys Res Commun, 180: 515-518
    • (1991) Biochem Biophys Res Commun , vol.180 , pp. 515-518
    • Hayasaka, K.1    Nanao, K.2    Tahara, M.3    Sato, W.4    Takada, G.5    Miura, M.6    Uyemura, K.7
  • 43
    • 0027338081 scopus 로고
    • Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B
    • Hayasaka K, Takada G, Ionasescu VV (1993) Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B. Hum Mol Genet, 2: 1369-1372
    • (1993) Hum Mol Genet , vol.2 , pp. 1369-1372
    • Hayasaka, K.1    Takada, G.2    Ionasescu, V.V.3
  • 47
    • 0028088839 scopus 로고
    • Point mutations of the connexin32 (GJB1 ) gene in X-linked dominant Charcot-Marie-Tooth neuropathy
    • Ionasescu V, Searby C, Ionasescu R (1994) Point mutations of the connexin32 (GJB1 ) gene in X-linked dominant Charcot-Marie-Tooth neuropathy. Hum Mol Genet, 3: 355-358
    • (1994) Hum Mol Genet , vol.3 , pp. 355-358
    • Ionasescu, V.1    Searby, C.2    Ionasescu, R.3
  • 49
    • 0028847995 scopus 로고
    • Charcot-Marie-Tooth neuropathies: From clinical description to molecular genetics
    • Ionasescu VV (1995) Charcot-Marie-Tooth neuropathies: from clinical description to molecular genetics. Muscle Nerve, 18: 267-275
    • (1995) Muscle Nerve , vol.18 , pp. 267-275
    • Ionasescu, V.V.1
  • 50
    • 0027512552 scopus 로고
    • Charcot-Marie-Tooth neuropathy type 1A with both duplication and non-duplication
    • Ionasescu VV, Ionasescu R, Searby C, Barker DF (1993) Charcot-Marie-Tooth neuropathy type 1A with both duplication and non-duplication. Hum Mol Genet, 2: 405-410
    • (1993) Hum Mol Genet , vol.2 , pp. 405-410
    • Ionasescu, V.V.1    Ionasescu, R.2    Searby, C.3    Barker, D.F.4
  • 51
    • 0029788204 scopus 로고    scopus 로고
    • 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 (1996) Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy. Neurology, 47: 541-544
    • (1996) Neurology , vol.47 , pp. 541-544
    • Ionasescu, V.V.1    Searby, C.2    Ionasescu, R.3    Neuhaus, I.M.4    Werner, R.5
  • 54
    • 84936916725 scopus 로고
    • Heredofamilal neuritis with brachial predilection
    • Jacob JC, Andermann F, Robb JP (1961) Heredofamilal neuritis with brachial predilection. Neurology, 11: 1025-1033
    • (1961) Neurology , vol.11 , pp. 1025-1033
    • Jacob, J.C.1    Andermann, F.2    Robb, J.P.3
  • 55
    • 0030900182 scopus 로고    scopus 로고
    • 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, Grid D (1997) A clinical, electrophysiologic, neuropathologic, and genetic study of two large Algerian families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease. Neurology, 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    Grid, D.7
  • 56
    • 0029999248 scopus 로고    scopus 로고
    • Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hotspot
    • Kiyosawa H, Chance PF (1996) Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hotspot. Hum Mol Genet, 5: 745-753
    • (1996) Hum Mol Genet , vol.5 , pp. 745-753
    • Kiyosawa, H.1    Chance, P.F.2
  • 57
    • 0028810444 scopus 로고
    • Analysis of the CMT1A-REP repeat: Mapping crossover breakpoints in CMT1A and HNPP
    • Kiyosawa H, Lensch MW, Chance PF (1995) Analysis of the CMT1A-REP repeat: mapping crossover breakpoints in CMT1A and HNPP. Hum Mol Genet, 4: 2327-2334
    • (1995) Hum Mol Genet , vol.4 , pp. 2327-2334
    • Kiyosawa, H.1    Lensch, M.W.2    Chance, P.F.3
  • 61
    • 0027584197 scopus 로고
    • The molecular genetics of myelination: An update
    • Lemke G (1993) The molecular genetics of myelination: an update. Glia, 7: 263-271
    • (1993) Glia , vol.7 , pp. 263-271
    • Lemke, G.1
  • 62
    • 0029989649 scopus 로고    scopus 로고
    • Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: New tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A. French CMT Collaborative Research Group
    • Lopes J, LeGuern E, Gouider R, Tardieu S, Abbas N, Birouk N, Gugenheim M, Bouche P, Agid Y, Brice A (1996) Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: new tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A. French CMT Collaborative Research Group. Am J Hum Genet, 58: 1223-1230
    • (1996) Am J Hum Genet , vol.58 , pp. 1223-1230
    • Lopes, J.1    LeGuern, E.2    Gouider, R.3    Tardieu, S.4    Abbas, N.5    Birouk, N.6    Gugenheim, M.7    Bouche, P.8    Agid, Y.9    Brice, A.10
  • 67
    • 0001910626 scopus 로고
    • Charcot-Marie-Tooth polyneuropathy syndrome: Clinical, electrophysiological and genetic aspects
    • S. Appel (Ed.), Mosby-Yearbook, Chicago
    • Lupski JR, Garcia CA, Parry GJ, Patel PI, Charcot-Marie-Tooth Polyneuropathy Syndrome: Clinical, Electrophysiological and Genetic Aspects. In S. Appel (Ed.), Current Neurology, Mosby-Yearbook, Chicago, 1991, pp. 1-25
    • (1991) Current Neurology , pp. 1-25
    • Lupski, J.R.1    Garcia, C.A.2    Parry, G.J.3    Patel, P.I.4
  • 69
    • 0000325399 scopus 로고
    • The pathology of neuropathies with focal thickening of the myelin sheath (tomaculous neuropathy): Studies on the formation of the abnormal myelin sheath
    • Madrid R, Bradley WG (1975) The pathology of neuropathies with focal thickening of the myelin sheath (tomaculous neuropathy): Studies on the formation of the abnormal myelin sheath. J Neurol Sci, 25: 415-448
    • (1975) J Neurol Sci , vol.25 , pp. 415-448
    • Madrid, R.1    Bradley, W.G.2
  • 70
    • 0022449202 scopus 로고
    • De novo partial duplication of 17p [dup(17)(p12-p11.2)]: Clinical report
    • Magenis RE, Brown MG, Allen L, Reiss J (1986) de novo partial duplication of 17p [dup(17)(p12-p11.2)]: clinical report. Am J Med Genet, 24: 415-420
    • (1986) Am J Med Genet , vol.24 , pp. 415-420
    • Magenis, R.E.1    Brown, M.G.2    Allen, L.3    Reiss, J.4
  • 73
    • 0027305348 scopus 로고
    • Gene for hereditary neuropathy with liability to pressure palsies (HNPP) maps to chromosome 17 at or close to the locus for HMSN type 1
    • Mariman EC, Gabreels-Festen AA, van Beersum SE, Jongen PJ, Ropers HH, Gabreels FJ (1993) Gene for hereditary neuropathy with liability to pressure palsies (HNPP) maps to chromosome 17 at or close to the locus for HMSN type 1. Hum Genet, 92: 87-90
    • (1993) Hum Genet , vol.92 , pp. 87-90
    • Mariman, E.C.1    Gabreels-Festen, A.A.2    Van Beersum, S.E.3    Jongen, P.J.4    Ropers, H.H.5    Gabreels, F.J.6
  • 74
    • 0024535546 scopus 로고
    • Recurrent familial brachial plexus palsies as the only clinical expression of 'tomaculous' neuropathy
    • Martinelli P, Fabbri R, Moretto G, Gabellini AS, D'Alessandro R, Rizzuto N (1989) Recurrent familial brachial plexus palsies as the only clinical expression of 'tomaculous' neuropathy. Eur Neurol, 29: 61-66
    • (1989) Eur Neurol , vol.29 , pp. 61-66
    • Martinelli, P.1    Fabbri, R.2    Moretto, G.3    Gabellini, A.S.4    D'Alessandro, R.5    Rizzuto, N.6
  • 75
    • 0028824925 scopus 로고
    • Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies
    • Martini R, Zielasek J, Toyka KV, Giese KP, Schachner M (1995) Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies. Nat Genet, 11: 281-286
    • (1995) Nat Genet , vol.11 , pp. 281-286
    • Martini, R.1    Zielasek, J.2    Toyka, K.V.3    Giese, Kp.4    Schachner, M.5
  • 79
    • 0025169909 scopus 로고
    • Linkage of hereditary motor and sensory neuropathy type I to the pericentromeric region of chromosome 17
    • Middleton-Price HR, Harding AE, Monteiro C, Berciano J, Malcolm S (1990) Linkage of hereditary motor and sensory neuropathy type I to the pericentromeric region of chromosome 17. Am J Hum Genet, 46: 92-94
    • (1990) Am J Hum Genet , vol.46 , pp. 92-94
    • Middleton-Price, H.R.1    Harding, A.E.2    Monteiro, C.3    Berciano, J.4    Malcolm, S.5
  • 81
    • 0030012076 scopus 로고    scopus 로고
    • A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe de novo Charcot-Marie-Tooth disease
    • Navon R, Seifried B, Gal-On NS, Sadeh M (1996) A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe de novo Charcot-Marie-Tooth disease. Hum Genet, 97: 685-687
    • (1996) Hum Genet , vol.97 , pp. 685-687
    • Navon, R.1    Seifried, B.2    Gal-On, N.S.3    Sadeh, M.4
  • 83
    • 0025892749 scopus 로고
    • Penetrance of the hereditary motor and sensory neuropathy Ia mutation: Assessment by nerve conduction studies
    • Nicholson GA (1991) Penetrance of the hereditary motor and sensory neuropathy Ia mutation: assessment by nerve conduction studies. Neurology, 41: 547-552
    • (1991) Neurology , vol.41 , pp. 547-552
    • Nicholson, G.A.1
  • 85
    • 0025344688 scopus 로고
    • Genetic mapping of autosomal dominant CharcotMarie-Tooth disease in a large French-Acadian kindred: Identification of new linked markers on chromosome 17
    • Patel PI, Franco B, Garcia C, Slaugenhaupt SA, Nakamura Y, Ledbetter DH, Chakravarti A, Lupski JR (1990) Genetic mapping of autosomal dominant CharcotMarie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17. Am J Hum Genet, 46: 801-809
    • (1990) Am J Hum Genet , vol.46 , pp. 801-809
    • Patel, P.I.1    Franco, B.2    Garcia, C.3    Slaugenhaupt, S.A.4    Nakamura, Y.5    Ledbetter, D.H.6    Chakravarti, A.7    Lupski, J.R.8
  • 88
    • 0030000575 scopus 로고    scopus 로고
    • Mapping of hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) to distal chromosome 17q
    • Pellegrino JE, Rebbeck TR, Brown MJ, Bird TD, Chance PF (1996) Mapping of hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) to distal chromosome 17q. Neurology, 46: 1128-1132
    • (1996) Neurology , vol.46 , pp. 1128-1132
    • Pellegrino, J.E.1    Rebbeck, T.R.2    Brown, M.J.3    Bird, T.D.4    Chance, P.F.5
  • 89
    • 0027017033 scopus 로고
    • Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit
    • Pentao L, Wise CA, Chinault AC, Patel PI, Lupski JR (1992) Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nat Genet, 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
  • 92
    • 0026564694 scopus 로고
    • Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group
    • Raeymekers P, Timmerman V, Nelis E, Van Hul W, De Jonghe P, Martin JJ, Van Broeckhoven C (1992) Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group. J Med Genet, 29: 5-11
    • (1992) J Med Genet , vol.29 , pp. 5-11
    • Raeymekers, P.1    Timmerman, V.2    Nelis, E.3    Van Hul, W.4    De Jonghe, P.5    Martin, J.J.6    Van Broeckhoven, C.7
  • 93
    • 0028017306 scopus 로고
    • Identification of a de novo insertional mutation in P0 in a patient with a Dejerine-Sottas syndrome (DSS) phenotype
    • Rautenstrauss B, Nelis E, Grehl H, Pfeiffer RA, Van Broeckhoven C (1994) Identification of a de novo insertional mutation in P0 in a patient with a Dejerine-Sottas syndrome (DSS) phenotype. Hum Mol Genet, 3: 1701-1702
    • (1994) Hum Mol Genet , vol.3 , pp. 1701-1702
    • Rautenstrauss, B.1    Nelis, E.2    Grehl, H.3    Pfeiffer, R.A.4    Van Broeckhoven, C.5
  • 94
    • 0030871024 scopus 로고    scopus 로고
    • The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs
    • Reiter LT, Murakami T, Koeuth T, Gibbs RA, Lupski JR (1997) The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs. Hum Mol Genet, 6: 1595-1603
    • (1997) Hum Mol Genet , vol.6 , pp. 1595-1603
    • Reiter, L.T.1    Murakami, T.2    Koeuth, T.3    Gibbs, R.A.4    Lupski, J.R.5
  • 95
    • 0029962292 scopus 로고    scopus 로고
    • A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element
    • Reiter LT, Murakami T, Koeuth T, Pentao L, Muzny DM, Gibbs RA, Lupski JR (1996) A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. Nat Genet, 12: 288-297
    • (1996) Nat Genet , vol.12 , pp. 288-297
    • Reiter, L.T.1    Murakami, T.2    Koeuth, T.3    Pentao, L.4    Muzny, D.M.5    Gibbs, R.A.6    Lupski, J.R.7
  • 96
    • 0027486810 scopus 로고
    • Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene
    • Roa BB, Dyck PJ, Marks HG, Chance PF, Lupski JR (1993) Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Nat Genet, 5: 269-273
    • (1993) Nat Genet , vol.5 , pp. 269-273
    • Roa, B.B.1    Dyck, P.J.2    Marks, H.G.3    Chance, P.F.4    Lupski, J.R.5
  • 99
    • 0031470266 scopus 로고    scopus 로고
    • Linkage mapping of the gene for Charcot-Marie-Tooth disease type 2 to chromosome 1p (CMT2A) and the clinical features of CMT2A
    • Saito M, Hayashi Y, Suzuki T, Tanaka H, Hozumi I, Tsuji S (1997) Linkage mapping of the gene for Charcot-Marie-Tooth disease type 2 to chromosome 1p (CMT2A) and the clinical features of CMT2A. Neurology, 49: 1630-1635
    • (1997) Neurology , vol.49 , pp. 1630-1635
    • Saito, M.1    Hayashi, Y.2    Suzuki, T.3    Tanaka, H.4    Hozumi, I.5    Tsuji, S.6
  • 101
    • 0029411032 scopus 로고
    • Myelin genes: Getting the dosage right
    • Scherer SS, Chance PF (1995) Myelin genes: getting the dosage right. Nat Genet, 11: 226-228
    • (1995) Nat Genet , vol.11 , pp. 226-228
    • Scherer, S.S.1    Chance, P.F.2
  • 103
    • 0030246987 scopus 로고    scopus 로고
    • Crystal structure of the extracellular domain from P0, the major structural protein of peripheral nerve myelin
    • Shapiro L, Doyle JP, Hensley P, Colman DR, Hendrickson WA (1996) Crystal structure of the extracellular domain from P0, the major structural protein of peripheral nerve myelin. Neuron, 17: 435-449
    • (1996) Neuron , vol.17 , pp. 435-449
    • Shapiro, L.1    Doyle, J.P.2    Hensley, P.3    Colman, D.R.4    Hendrickson, W.A.5
  • 104
    • 0016266593 scopus 로고
    • Genetic and clinical aspects of Charcot-Marie-Tooth's disease
    • Skre H (1974) Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin Genet, 6: 98-118
    • (1974) Clin Genet , vol.6 , pp. 98-118
    • Skre, H.1
  • 105
    • 0029014126 scopus 로고
    • Molecular anatomy and genetics of myelin proteins in the peripheral nervous system
    • Snipes GJ, Suter U (1995) Molecular anatomy and genetics of myelin proteins in the peripheral nervous system. J Anat, 186: 483-494
    • (1995) J Anat , vol.186 , pp. 483-494
    • Snipes, G.J.1    Suter, U.2
  • 106
    • 0026519132 scopus 로고
    • Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13)
    • Snipes GJ, Suter U, Welcher AA, Shooter EM (1992) Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13). J Cell Biol, 117: 225-238
    • (1992) J Cell Biol , vol.117 , pp. 225-238
    • Snipes, G.J.1    Suter, U.2    Welcher, A.A.3    Shooter, E.M.4
  • 107
    • 0025942098 scopus 로고
    • Axon-regulated expression of a Schwann cell transcript that is homologous to a 'growth arrest-specific' gene
    • Spreyer P, Kuhn G, Hanemann CO, Gillen C, Schaal H, Kuhn R, Lemke G, Muller HW (1991) Axon-regulated expression of a Schwann cell transcript that is homologous to a 'growth arrest-specific' gene. Embo J, 10: 3661-3668
    • (1991) Embo J , vol.10 , pp. 3661-3668
    • Spreyer, P.1    Kuhn, G.2    Hanemann, C.O.3    Gillen, C.4    Schaal, H.5    Kuhn, R.6    Lemke, G.7    Muller, H.W.8
  • 108
    • 0004074947 scopus 로고
    • Linkage of dominantly inherited Charcot-Marie-Tooth neuropathy to the duffy locus in an Indian family
    • Stebbins NB, Conneally PM (1982) Linkage of dominantly inherited Charcot-Marie-Tooth neuropathy to the Duffy locus in an Indian family. Am J Hum Genet, 34: 388-394
    • (1982) Am J Hum Genet , vol.34 , pp. 388-394
    • Stebbins, N.B.1    Conneally, P.M.2
  • 115
    • 0015379849 scopus 로고
    • Natural history of brachial plexus neuropathy. Report on 99 patients
    • Tsairis P, Dyck PJ, Mulder DW (1972) Natural history of brachial plexus neuropathy. Report on 99 patients. Arch Neurol, 27: 109-117
    • (1972) Arch Neurol , vol.27 , pp. 109-117
    • Tsairis, P.1    Dyck, P.J.2    Mulder, D.W.3
  • 124
    • 0001215716 scopus 로고
    • Inherited recurrent focal neuropathies
    • P.J. Dyck, P.J. Thomas, J.W. Griffin, PA. Low and J.F. Poduslo (Eds.), WB Saunders, Philadelphia
    • Windebank AJ, Inherited recurrent focal neuropathies. In P.J. Dyck, P.J. Thomas, J.W. Griffin, PA. Low and J.F. Poduslo (Eds.), Peripheral Neuropathy, WB Saunders, Philadelphia, 1993, pp. 1137-1148
    • (1993) Peripheral Neuropathy , pp. 1137-1148
    • Windebank, A.J.1
  • 125
    • 0029153896 scopus 로고
    • Hereditary neuropathy with liability to pressure palsies and inherited brachial plexus neuropathy-two genetically distinct disorders
    • Windebank AJ, Schenone A, Dewald GW (1995) Hereditary neuropathy with liability to pressure palsies and inherited brachial plexus neuropathy-two genetically distinct disorders. Mayo Clin Proc, 70: 743-746
    • (1995) Mayo Clin Proc , vol.70 , pp. 743-746
    • Windebank, A.J.1    Schenone, A.2    Dewald, G.W.3
  • 126
    • 0027374931 scopus 로고
    • Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication
    • Wise CA, Garcia CA, Davis SN, Heju Z, Pentao L, Patel PI, Lupski JR (1993) Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication. Am J Hum Genet, 53: 853-863
    • (1993) Am J Hum Genet , vol.53 , pp. 853-863
    • Wise, C.A.1    Garcia, C.A.2    Davis, S.N.3    Heju, Z.4    Pentao, L.5    Patel, P.I.6    Lupski, J.R.7
  • 130
    • 0028221758 scopus 로고
    • Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A
    • Yoshikawa H, Nishimura T, Nakatsuji Y, Fujimura H, Himoro M, Hayasaka K, Sakoda S, Yanagihara T (1994) Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A. Ann Neurol, 35: 445-450
    • (1994) Ann Neurol , vol.35 , pp. 445-450
    • Yoshikawa, H.1    Nishimura, T.2    Nakatsuji, Y.3    Fujimura, H.4    Himoro, M.5    Hayasaka, K.6    Sakoda, S.7    Yanagihara, T.8
  • 131
    • 0032518241 scopus 로고    scopus 로고
    • Mutations of connexin32 in Charcot-Marie-Tooth disease type X interfere with cell-to-cell communication but not cell proliferation and myelin-specific gene expression
    • Yoshimura T, Satake M, Ohnishi A, Tsutsumi Y, Fujikura Y (1998) Mutations of connexin32 in Charcot-Marie-Tooth disease type X interfere with cell-to-cell communication but not cell proliferation and myelin-specific gene expression. J Neurosci Res, 51: 154-161
    • (1998) J Neurosci Res , vol.51 , pp. 154-161
    • Yoshimura, T.1    Satake, M.2    Ohnishi, A.3    Tsutsumi, Y.4    Fujikura, Y.5
  • 132
    • 0030011973 scopus 로고    scopus 로고
    • Genetic heterogeneity in Charcot-Marie-Tooth neuropathy type 2
    • Yoshioka R, Dyck PJ, Chance PF (1996) Genetic heterogeneity in Charcot-Marie-Tooth neuropathy type 2. Neurology, 46: 569-571
    • (1996) Neurology , vol.46 , pp. 569-571
    • Yoshioka, R.1    Dyck, P.J.2    Chance, P.F.3
  • 133
    • 0028950408 scopus 로고
    • Retroviral-mediated gene transfer of the peripheral myelin protein PMP22 in Schwann cells: Modulation of cell growth
    • Zoidl G, Blass-Kampmann S, D'Urso D, Schmalenbach C, Muller HW (1995) Retroviral-mediated gene transfer of the peripheral myelin protein PMP22 in Schwann cells: modulation of cell growth. Embo J, 14: 1122-1128
    • (1995) Embo J , vol.14 , pp. 1122-1128
    • Zoidl, G.1    Blass-Kampmann, S.2    D'Urso, D.3    Schmalenbach, C.4    Muller, H.W.5
  • 134
    • 0030221510 scopus 로고    scopus 로고
    • The transcription factors SCIP and Krox-20 mark distinct stages and cell fates in Schwann cell differentiation
    • Zorick TS, Syroid DE, Arroyo E, Scherer SS, Lemke G (1996) The Transcription Factors SCIP and Krox-20 Mark Distinct Stages and Cell Fates in Schwann Cell Differentiation. Mol Cell Neurosci, 8: 129-145
    • (1996) Mol Cell Neurosci , vol.8 , pp. 129-145
    • Zorick, T.S.1    Syroid, D.E.2    Arroyo, E.3    Scherer, S.S.4    Lemke, G.5


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