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Volumn 9, Issue 4, 1999, Pages 279-287

4th Workshop of the European CMT-Consortium - 62nd ENMC International Workshop: Rare forms of Charcot-Marie-Tooth disease and related disorders 16-18 October 1998, Soestduinen, The Netherlands

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL RECESSIVE DISORDER; CONFERENCE PAPER; DISEASE CLASSIFICATION; GENE MUTATION; HAPLOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; MUSCLE WEAKNESS; NERVE BIOPSY; NEUROPATHOLOGY; PHENOTYPE; PRIORITY JOURNAL; SYMPOSIUM; WORKSHOP;

EID: 0032997632     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(99)00017-6     Document Type: Conference Paper
Times cited : (22)

References (40)
  • 2
    • 0031943222 scopus 로고    scopus 로고
    • Mutations in the early growth response 2 (EGR 2) gene are associated with hereditary myelinopathies
    • Warner L.E., Mancias P., Butler I., et al. Mutations in the early growth response 2 (EGR 2) gene are associated with hereditary myelinopathies. Nature Genet. 18:1998;382-384.
    • (1998) Nature Genet , vol.18 , pp. 382-384
    • Warner, L.E.1    Mancias, P.2    Butler, I.3
  • 3
    • 0344046624 scopus 로고    scopus 로고
    • Clinicopathological and genetic study of patients with the Dejerine-Sottas phenotype
    • Parman Y., Planté-Bordeneuve V., Mantel A. Clinicopathological and genetic study of patients with the Dejerine-Sottas phenotype. J Neurol. 245:1998;465-466.
    • (1998) J Neurol , vol.245 , pp. 465-466
    • Parman, Y.1    Planté-Bordeneuve, V.2    Mantel, A.3
  • 4
    • 0029873432 scopus 로고    scopus 로고
    • Correlation between the histopathologic, genotypic, and phenotypic features of hereditary peripheral neuropathies in childhood
    • Ouvrier R. Correlation between the histopathologic, genotypic, and phenotypic features of hereditary peripheral neuropathies in childhood. J Child Neurol. 11:1996;133-146.
    • (1996) J Child Neurol , vol.11 , pp. 133-146
    • Ouvrier, R.1
  • 5
    • 16044362374 scopus 로고    scopus 로고
    • Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination
    • Warner L.E., Hilz M.J., Appel S.H. Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. Neuron. 17:1996;451-460.
    • (1996) Neuron , vol.17 , pp. 451-460
    • Warner, L.E.1    Hilz, M.J.2    Appel, S.H.3
  • 6
    • 0024322088 scopus 로고
    • Autosomal recessive motor and sensory neuropathy with excessive myelin outfolding
    • Ohnishi A., Murai Y., Ikeda M., Fujita T., Furuya H., Kuroiwa Y. Autosomal recessive motor and sensory neuropathy with excessive myelin outfolding. Muscle Nerve. 12:1989;568-575.
    • (1989) Muscle Nerve , vol.12 , pp. 568-575
    • Ohnishi, A.1    Murai, Y.2    Ikeda, M.3    Fujita, T.4    Furuya, H.5    Kuroiwa, Y.6
  • 9
    • 0027504559 scopus 로고
    • Dominantly inherited motor and sensory neuropathy with excessive myelin folding complex
    • Umehara F., Takenaga S., Nakagawa M., et al. Dominantly inherited motor and sensory neuropathy with excessive myelin folding complex. Acta Neuropathol. 86:1993;602-608.
    • (1993) Acta Neuropathol , vol.86 , pp. 602-608
    • Umehara, F.1    Takenaga, S.2    Nakagawa, M.3
  • 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., et al. 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. 5:1996;1051-1054.
    • (1996) Hum Mol Genet , vol.5 , pp. 1051-1054
    • Bolino, A.1    Brancolini, V.2    Bono, F.3
  • 11
    • 0000648080 scopus 로고    scopus 로고
    • Autosomal recessive Charcot-Marie-Tooth disease: Clinical and genetic aspects
    • AAN 50th anniversary annual meeting, Minneapolis, MN, April 25-May 2, 1998 (abstract)
    • Ben Othmane K, Rochelle JM, Johnson E, et al. Autosomal recessive Charcot-Marie-Tooth disease: Clinical and genetic aspects. AAN 50th anniversary annual meeting, Minneapolis, MN, April 25-May 2, 1998. Neurology 1998;50 (Suppl. 4):4122 (abstract).
    • (1998) Neurology , vol.50 , Issue.4 SUPPL. , pp. 4122
    • Ben Othmane, K.1    Rochelle, J.M.2    Johnson, E.3
  • 12
    • 0031942903 scopus 로고    scopus 로고
    • Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B)
    • Gambardella A., Bolino A., Muglia M., et al. Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B). Neurology. 50:1998;799-801.
    • (1998) Neurology , vol.50 , pp. 799-801
    • Gambardella, A.1    Bolino, A.2    Muglia, M.3
  • 13
    • 0018817642 scopus 로고
    • Autosomal recessive forms of hereditary motor and sensory neuropathy
    • Harding A.E., Thomas P.K. Autosomal recessive forms of hereditary motor and sensory neuropathy. J Neurol Neurosurg Psychiatry. 43:1980;669-678.
    • (1980) J Neurol Neurosurg Psychiatry , vol.43 , pp. 669-678
    • Harding, A.E.1    Thomas, P.K.2
  • 14
    • 16044365767 scopus 로고    scopus 로고
    • Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24
    • Kalaydjieva L., Hallmayer J., Chandler D., et al. Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24. Nature Genet. 14:1996;214-217.
    • (1996) Nature Genet , vol.14 , pp. 214-217
    • Kalaydjieva, L.1    Hallmayer, J.2    Chandler, D.3
  • 16
    • 0029849358 scopus 로고    scopus 로고
    • Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33
    • LeGuern E., Guilbot A., Kessali M., et al. Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33. Hum Mol Genet. 5:1996;1685-1688.
    • (1996) Hum Mol Genet , vol.5 , pp. 1685-1688
    • Leguern, E.1    Guilbot, A.2    Kessali, M.3
  • 19
    • 0344909235 scopus 로고    scopus 로고
    • The axonal form of autosomal recessive Charcot-Marie-Tooth (CMT) disease: A phenotype study of 4 Morocan families
    • (abstract)
    • Birouk, N., Belaidi, H., Benomar, A., et al. The axonal form of autosomal recessive Charcot-Marie-Tooth (CMT) disease: a phenotype study of 4 Morocan families. Neuromusc Disord 1997;7:470 (abstract).
    • (1997) Neuromusc Disord , vol.7 , pp. 470
    • Birouk, N.1    Belaidi, H.2    Benomar, A.3
  • 20
    • 0030900182 scopus 로고    scopus 로고
    • A clinical, electrophysiologic, neuropathologic and genetic study of two large Algerian families with an autosomal recessive demyelinating form of CMT disease
    • Kessali M., Zemmouri R., Guilbot A., et al. A clinical, electrophysiologic, neuropathologic and genetic study of two large Algerian families with an autosomal recessive demyelinating form of CMT disease. Neurology. 48:1997;867-873.
    • (1997) Neurology , vol.48 , pp. 867-873
    • Kessali, M.1    Zemmouri, R.2    Guilbot, A.3
  • 21
    • 0028288409 scopus 로고
    • A YAC contig of approximately 3 Mb from human chromosome 5q31-q33
    • Li X., Wise C.A., Le Paslier D., et al. A YAC contig of approximately 3 Mb from human chromosome 5q31-q33. Genomics. 19:1994;470-477.
    • (1994) Genomics , vol.19 , pp. 470-477
    • Li, X.1    Wise, C.A.2    Le Paslier, D.3
  • 22
    • 9344241377 scopus 로고    scopus 로고
    • Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths. Clinical, electrophysiologic, and genetic aspects of a large family
    • Quattrone A., Gambardella A., Bono F., et al. Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths. Clinical, electrophysiologic, and genetic aspects of a large family. Neurology. 46:1996;1318-1324.
    • (1996) Neurology , vol.46 , pp. 1318-1324
    • Quattrone, A.1    Gambardella, A.2    Bono, F.3
  • 23
    • 0344909234 scopus 로고    scopus 로고
    • Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT 4B)
    • in press
    • Gambardella A., Bono F., Muglia M., Valentino P., Quattrone A. Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT 4B). Neurology. 1999;. in press.
    • (1999) Neurology
    • Gambardella, A.1    Bono, F.2    Muglia, M.3    Valentino, P.4    Quattrone, A.5
  • 24
    • 0032078756 scopus 로고    scopus 로고
    • Hereditary motor and sensory neuropathy LOM type in an Italian Gypsy family
    • Merlini L., Villanova M., Sabatelli P., et al. Hereditary motor and sensory neuropathy LOM type in an Italian Gypsy family. Neuromusc Disord. 3-4:1998;182-185.
    • (1998) Neuromusc Disord , vol.34 , pp. 182-185
    • Merlini, L.1    Villanova, M.2    Sabatelli, P.3
  • 25
    • 0345340381 scopus 로고    scopus 로고
    • Recessive sensory and motor hereditary neuropathy associated with a juvenile glaucoma
    • (abstract NAP14)
    • Gouider R., Dogui T., Fredj M., LeGuern E., Ben Ammou S., Mrabet A. Recessive sensory and motor hereditary neuropathy associated with a juvenile glaucoma. Neuromusc Disord. 7:1997;471-472. (abstract NAP14).
    • (1997) Neuromusc Disord , vol.7 , pp. 471-472
    • Gouider, R.1    Dogui, T.2    Fredj, M.3    Leguern, E.4    Ben Ammou, S.5    Mrabet, A.6
  • 26
    • 0026631333 scopus 로고
    • Hereditary motor and sensory neuropathy with deafness, mental retardation and absence of large myelinated fibers
    • Mancardi G.L., Di Rocco M., Schenone A., et al. Hereditary motor and sensory neuropathy with deafness, mental retardation and absence of large myelinated fibers. J Neurol Sci. 110:1992;121-130.
    • (1992) J Neurol Sci , vol.110 , pp. 121-130
    • Mancardi, G.L.1    Di Rocco, M.2    Schenone, A.3
  • 27
    • 0032559180 scopus 로고    scopus 로고
    • Hereditary motor and sensory neuropathy with deafness, mental retardation, and absence of sensory large myelinated fibers: Confirmation of a new entity
    • Sabatelli M., Mignogna T., Lippi G., et al. Hereditary motor and sensory neuropathy with deafness, mental retardation, and absence of sensory large myelinated fibers: confirmation of a new entity. Am J Med Genet. 75:1998;309-313.
    • (1998) Am J Med Genet , vol.75 , pp. 309-313
    • Sabatelli, M.1    Mignogna, T.2    Lippi, G.3
  • 28
    • 0021982118 scopus 로고
    • X-linked motor-sensory neuropathy type-II with deafness and mental retardation: A new disorder
    • Cowchock F.S., Duckett S.W., Streletz L.J., Graziani L.J., Jackson L.G. X-linked motor-sensory neuropathy type-II with deafness and mental retardation: a new disorder. Am J Med Genet. 20:1985;307-315.
    • (1985) Am J Med Genet , vol.20 , pp. 307-315
    • Cowchock, F.S.1    Duckett, S.W.2    Streletz, L.J.3    Graziani, L.J.4    Jackson, L.G.5
  • 30
    • 0029150128 scopus 로고
    • Assignement of a second Charcot-Marie-Tooth type 2 locus to chromosome 3q
    • Kwon J.M., Eliott J.L., Yee W.C., et al. Assignement of a second Charcot-Marie-Tooth type 2 locus to chromosome 3q. Am J Hum Genet. 57:1995;853-858.
    • (1995) Am J Hum Genet , vol.57 , pp. 853-858
    • Kwon, J.M.1    Eliott, J.L.2    Yee, W.C.3
  • 33
    • 0001215716 scopus 로고
    • Inherited recurrent focal neuropathies
    • P.J. Dyck, P.K. Thomas, & J.W. et al. Griffin.
    • Windebank A.J., et al. Inherited recurrent focal neuropathies. Dyck P.J., Thomas P.K., Griffin J.W., et al. Peripheral neuropathy. 3rd edn. 1993;1137.
    • (1993) Peripheral Neuropathy 3rd Edn. , pp. 1137
    • Windebank, A.J.1
  • 34
    • 0030000575 scopus 로고    scopus 로고
    • Mapping of hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) to distal chromosome 17q
    • Pellegrino J.E., Rebbeck T.R., Brown M.J., Bird T.D., Chance P.F. Mapping of hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) to distal chromosome 17q. Neurology. 46:1996;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
  • 36
    • 1842339269 scopus 로고    scopus 로고
    • Refinement of the hereditary neuralgic amyotrophy (HNA) locus to chromosome 17q25
    • Stögbauer F., Young P., Timmerman V. Refinement of the hereditary neuralgic amyotrophy (HNA) locus to chromosome 17q25. Hum Genet. 99:1997;685-687.
    • (1997) Hum Genet , vol.99 , pp. 685-687
    • Stögbauer, F.1    Young, P.2    Timmerman, V.3
  • 37
    • 0031433106 scopus 로고    scopus 로고
    • Hereditary neuralgic amyotrophy: Evidence for genetic homogeneity and mapping to chromosome 17q25
    • Pellegrino J.E., George R.A., Biegel J., et al. Hereditary neuralgic amyotrophy: evidence for genetic homogeneity and mapping to chromosome 17q25. Hum Genet. 101:1997;227-283.
    • (1997) Hum Genet , vol.101 , pp. 227-283
    • Pellegrino, J.E.1    George, R.A.2    Biegel, J.3
  • 38
    • 15144342084 scopus 로고    scopus 로고
    • An STS-based radiation hybrid map of the human genome
    • Stewart E.A., McKusick K.B., Aggarwal A., et al. An STS-based radiation hybrid map of the human genome. Genome Res. 7:1997;422-433.
    • (1997) Genome Res , vol.7 , pp. 422-433
    • Stewart, E.A.1    McKusick, K.B.2    Aggarwal, A.3
  • 39
    • 4243720736 scopus 로고    scopus 로고
    • Mutation analysis of a putative sialyltransferase gene, the SFRS2 splicing factor gene and the c-myb ET-locus in two families with hereditary neuralgic amyotrophy (HNA)
    • in press
    • Kuhlenbaümer G., Meuleman J., Schirmacher A., et al. Mutation analysis of a putative sialyltransferase gene, the SFRS2 splicing factor gene and the c-myb ET-locus in two families with hereditary neuralgic amyotrophy (HNA). Ann Human Genet. 1999;. in press.
    • (1999) Ann Human Genet
    • Kuhlenbaümer, G.1    Meuleman, J.2    Schirmacher, A.3
  • 40
    • 0031215451 scopus 로고    scopus 로고
    • Homozygosity mapping of giant axonal neuropathy gene to chromosome 16q24.1
    • Ben Hamida C, Cavalier L, Belal S, et al. Homozygosity mapping of giant axonal neuropathy gene to chromosome 16q24.1. Neurogenetics. 1:1997;129-133.
    • (1997) Neurogenetics , vol.1 , pp. 129-133
    • Ben Hamida, C.1    Cavalier, L.2    Belal, S.3


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