메뉴 건너뛰기




Volumn 43, Issue 1, 1998, Pages 143-148

Localization of the giant axonal neuropathy gene to chromosome 16q24

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOMAL LOCALIZATION; CHROMOSOME 16Q; CONSANGUINITY; FAMILY STUDY; FEMALE; GENE LOCATION; GENETIC LINKAGE; GENOTYPE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; INTERMEDIATE FILAMENT; MALE; NEUROFILAMENT; NEUROPATHY; PRIORITY JOURNAL;

EID: 0031916862     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410430126     Document Type: Article
Times cited : (39)

References (37)
  • 1
    • 0015271541 scopus 로고
    • Giant axonal neuropathy: A unique case with segmental neurofilamentous masses
    • Asbury AK, Gale MK, Cox SC, et al. Giant axonal neuropathy: a unique case with segmental neurofilamentous masses. Acta Neuropathol 1972;20:237-247
    • (1972) Acta Neuropathol , vol.20 , pp. 237-247
    • Asbury, A.K.1    Gale, M.K.2    Cox, S.C.3
  • 3
    • 0024385737 scopus 로고
    • Giant axonal neuropathy: A review
    • Ouvrier RA. Giant axonal neuropathy: a review. Brain Dev 1989;11:207-214
    • (1989) Brain Dev , vol.11 , pp. 207-214
    • Ouvrier, R.A.1
  • 4
    • 0016784223 scopus 로고
    • Giant axonal neuropathy: A clinical entity affecting the central as well as the peripheral nervous system
    • Igisu H, Ohta M, Tabira T, et al. Giant axonal neuropathy: a clinical entity affecting the central as well as the peripheral nervous system. Neurology 1975;25:717-721
    • (1975) Neurology , vol.25 , pp. 717-721
    • Igisu, H.1    Ohta, M.2    Tabira, T.3
  • 5
    • 0026064007 scopus 로고
    • Giant axonal neuropathy in 2 siblings: A generalized disorder of intermediate filaments
    • Guazzi GC, Malandrini A, Gerli R, Federico A. Giant axonal neuropathy in 2 siblings: a generalized disorder of intermediate filaments. Eur Neurol 1991;31:50-56
    • (1991) Eur Neurol , vol.31 , pp. 50-56
    • Guazzi, G.C.1    Malandrini, A.2    Gerli, R.3    Federico, A.4
  • 6
    • 0017098236 scopus 로고
    • Giant axonal neuropathy: A generalized disorder of cytoplasmic filament formation
    • Prineas JW, Ouvrier RA, Wright RG, et al. Giant axonal neuropathy: a generalized disorder of cytoplasmic filament formation. J Neuropathol Exp Neurol 1976;35:458-470
    • (1976) J Neuropathol Exp Neurol , vol.35 , pp. 458-470
    • Prineas, J.W.1    Ouvrier, R.A.2    Wright, R.G.3
  • 7
    • 0025271221 scopus 로고
    • Giant axonal neuropathy with inherited multisystem degeneration in a Tunisian kindred
    • Ben Hamida M, Hentati F, Ben Hamida C. Giant axonal neuropathy with inherited multisystem degeneration in a Tunisian kindred. Neurology 1990;40:245-250
    • (1990) Neurology , vol.40 , pp. 245-250
    • Ben Hamida, M.1    Hentati, F.2    Ben Hamida, C.3
  • 8
    • 0023521469 scopus 로고
    • Childhood giant axonal neuropathy: Case report and review of the literature
    • Tandan R, Little BW, Emery ES, et al. Childhood giant axonal neuropathy: case report and review of the literature. J Neurol Sci 1987;82:205-228
    • (1987) J Neurol Sci , vol.82 , pp. 205-228
    • Tandan, R.1    Little, B.W.2    Emery, E.S.3
  • 9
    • 0017487351 scopus 로고
    • Giant axonal neuropathy: A childhood disorder of neurofilaments
    • Koch T, Schulz P, Williams R, Lampert P. Giant axonal neuropathy: a childhood disorder of neurofilaments. Ann Neurol 1977;1:438-451
    • (1977) Ann Neurol , vol.1 , pp. 438-451
    • Koch, T.1    Schulz, P.2    Williams, R.3    Lampert, P.4
  • 11
    • 0017720403 scopus 로고
    • Generalized giant axonal neuropathy: A filament-forming disease of neuronal, endothelial, glial, and Schwann cells in a patient without kinky hair
    • Peiffer J, Schlote W, Bischoff A, et al. Generalized giant axonal neuropathy: a filament-forming disease of neuronal, endothelial, glial, and Schwann cells in a patient without kinky hair. Acta Neuropathol 1977;40:213-218
    • (1977) Acta Neuropathol , vol.40 , pp. 213-218
    • Peiffer, J.1    Schlote, W.2    Bischoff, A.3
  • 12
    • 0026607351 scopus 로고
    • Peripheral neuropathy with giant axons and cardiomyopathy associated with desmin type intermediate filaments in skeletal muscle
    • Sabatelli M, Bertini E, Ricci E, et al. Peripheral neuropathy with giant axons and cardiomyopathy associated with desmin type intermediate filaments in skeletal muscle. J Neurol Sci 1992;109:1-10
    • (1992) J Neurol Sci , vol.109 , pp. 1-10
    • Sabatelli, M.1    Bertini, E.2    Ricci, E.3
  • 13
    • 0028334489 scopus 로고
    • Giant axonal neuropathy: A generalized disorder of intermediate filaments with longitudinal grooves in the hair
    • Treiber Held S, Budjarjo Welim H, Reimann D, et al. Giant axonal neuropathy: a generalized disorder of intermediate filaments with longitudinal grooves in the hair. Neuropediatrics 1994;25:89-93
    • (1994) Neuropediatrics , vol.25 , pp. 89-93
    • Treiber Held, S.1    Budjarjo Welim, H.2    Reimann, D.3
  • 14
    • 0020623002 scopus 로고
    • Giant axonal neuropathy: Normal protein composition of neurofilaments
    • Ionasescu V, Searby C, Rubenstein P, et al. Giant axonal neuropathy: normal protein composition of neurofilaments. J Neurol Neurosurg Psychiatry 1983;46:551-554
    • (1983) J Neurol Neurosurg Psychiatry , vol.46 , pp. 551-554
    • Ionasescu, V.1    Searby, C.2    Rubenstein, P.3
  • 15
    • 0020037665 scopus 로고
    • Giant axonal neuropathy: An inborn error of organization of intermediate filaments
    • Pena SJD. Giant axonal neuropathy: an inborn error of organization of intermediate filaments. Muscle Nerve 1982;5:166-172
    • (1982) Muscle Nerve , vol.5 , pp. 166-172
    • Pena, S.J.D.1
  • 16
    • 0023239442 scopus 로고
    • Homozygosity mapping: A way to map human recessive traits with the DNA of inbred children
    • Lander ES, Botstein D. Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 1987;236:1567-1570
    • (1987) Science , vol.236 , pp. 1567-1570
    • Lander, E.S.1    Botstein, D.2
  • 17
    • 0030047193 scopus 로고    scopus 로고
    • Localisation of pseudohypoaldosteronism genes to chromosome 16p12.2-13.11 and 12p13.1-pter by homozygosity mapping
    • Strautnieks SS, Thompson RJ, Hanukoglu A, et al. Localisation of pseudohypoaldosteronism genes to chromosome 16p12.2-13.11 and 12p13.1-pter by homozygosity mapping. Hum Mol Genet 1996;5:293-299
    • (1996) Hum Mol Genet , vol.5 , pp. 293-299
    • Strautnieks, S.S.1    Thompson, R.J.2    Hanukoglu, A.3
  • 18
    • 0027366933 scopus 로고
    • Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2
    • Pollak MR, Chou YH, Gerda JJ, et al. Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2. Nat Genet 1993;5:201-204
    • (1993) Nat Genet , vol.5 , pp. 201-204
    • Pollak, M.R.1    Chou, Y.H.2    Gerda, J.J.3
  • 19
    • 0027514838 scopus 로고
    • Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping
    • Ben Hamida C, Doerflinger N, Belal S, et al. Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping. Nat Genet 1993;5:195-200
    • (1993) Nat Genet , vol.5 , pp. 195-200
    • Ben Hamida, C.1    Doerflinger, N.2    Belal, S.3
  • 20
    • 0029163591 scopus 로고
    • A collection of ordered tetranucleotide-repeat markers from the human genome
    • Utah Marker Development Group. A collection of ordered tetranucleotide-repeat markers from the human genome. Am J Hum Genet 1995;57:619-628
    • (1995) Am J Hum Genet , vol.57 , pp. 619-628
  • 21
    • 0029792130 scopus 로고    scopus 로고
    • Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): Clinical description and genetic localization to chromosome 16q22.1
    • Flanigan K, Gardner K, Alderson K, et al. Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1. Am J Hum Genet 1996;59:392-399
    • (1996) Am J Hum Genet , vol.59 , pp. 392-399
    • Flanigan, K.1    Gardner, K.2    Alderson, K.3
  • 22
    • 0021850103 scopus 로고
    • Multilocus linkage analysis in humans: Detection of linkage and estimation of recombination
    • Lathrop GM, Lalouel JM, Julier C, Ott J. Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet 1985;37:482-498
    • (1985) Am J Hum Genet , vol.37 , pp. 482-498
    • Lathrop, G.M.1    Lalouel, J.M.2    Julier, C.3    Ott, J.4
  • 23
    • 13344259999 scopus 로고    scopus 로고
    • A comprehensive genetic map of the human genome based on 5,264 microsatellites
    • Dib C, Faure S, Fizames C, et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 1996;380:152-154
    • (1996) Nature , vol.380 , pp. 152-154
    • Dib, C.1    Faure, S.2    Fizames, C.3
  • 24
    • 0017328525 scopus 로고
    • Giant axonal neuropathy: Report of a case with normal hair
    • Bolthauser E, Bischoff A, Isler W. Giant axonal neuropathy: report of a case with normal hair. J Neurol Sci 1977;31:269-278
    • (1977) J Neurol Sci , vol.31 , pp. 269-278
    • Bolthauser, E.1    Bischoff, A.2    Isler, W.3
  • 25
    • 0021878488 scopus 로고
    • Hereditary motor sensory neuropathy type II with neurofilament accumulation: New finding or new disorder?
    • Vogel P, Gabriel M, Goebel HH, Dyck PJ. Hereditary motor sensory neuropathy type II with neurofilament accumulation: new finding or new disorder? Ann Neurol 1985;17:455-461
    • (1985) Ann Neurol , vol.17 , pp. 455-461
    • Vogel, P.1    Gabriel, M.2    Goebel, H.H.3    Dyck, P.J.4
  • 26
    • 0027293898 scopus 로고
    • Neurofilaments are obligate heteropolymers in vivo
    • Lee MK, Xu Z, Wong PC, Cleveland DW. Neurofilaments are obligate heteropolymers in vivo. J Cell Biol 1993;122:1337-1350
    • (1993) J Cell Biol , vol.122 , pp. 1337-1350
    • Lee, M.K.1    Xu, Z.2    Wong, P.C.3    Cleveland, D.W.4
  • 27
    • 0002171684 scopus 로고
    • The control of axonal caliber
    • Dyck PJ, Thomas PK, eds. Philadelphia: WB Saunders
    • Hoffman PN, Griffin JW. The control of axonal caliber. In: Dyck PJ, Thomas PK, eds. Peripheral neuropathy. Philadelphia: WB Saunders, 1994:389-402
    • (1994) Peripheral Neuropathy , pp. 389-402
    • Hoffman, P.N.1    Griffin, J.W.2
  • 28
    • 0024042469 scopus 로고
    • The structure and organization of the human heavy neurofilament subunit (NF-H) and the gene encoding it
    • Lees JF, Shneidman PS, Skuntz SF, et al. The structure and organization of the human heavy neurofilament subunit (NF-H) and the gene encoding it. Embo J 1988;7:1947-1955
    • (1988) Embo J , vol.7 , pp. 1947-1955
    • Lees, J.F.1    Shneidman, P.S.2    Skuntz, S.F.3
  • 29
    • 0027931132 scopus 로고
    • Phosphorylation on carboxyl terminus domains of neurofilament proteins in retinal ganglion cell neurons in vivo: Influences on regional neurofilament accumulation, interneurofilament spacing, and axon caliber
    • Nixon RA, Paskevich PA, Sihag RK, Thayer CY. Phosphorylation on carboxyl terminus domains of neurofilament proteins in retinal ganglion cell neurons in vivo: influences on regional neurofilament accumulation, interneurofilament spacing, and axon caliber. J Cell Biol 1994;126:1031-1046
    • (1994) J Cell Biol , vol.126 , pp. 1031-1046
    • Nixon, R.A.1    Paskevich, P.A.2    Sihag, R.K.3    Thayer, C.Y.4
  • 31
    • 84970316305 scopus 로고
    • The synthesis, axonal transport, and phosphorylation of neurofilaments determine axonal caliber in myelinated nerve fibers
    • Hoffman PN. The synthesis, axonal transport, and phosphorylation of neurofilaments determine axonal caliber in myelinated nerve fibers. Neuroscientist 1995;1:76-83
    • (1995) Neuroscientist , vol.1 , pp. 76-83
    • Hoffman, P.N.1
  • 32
    • 0026042995 scopus 로고
    • Cytopathology of amyotrophic lateral sclerosis
    • Rowland LR, ed. Amyotrophic lateral sclerosis and other motor neuron diseases
    • Hirano A. Cytopathology of amyotrophic lateral sclerosis. In: Rowland LR, ed. Amyotrophic lateral sclerosis and other motor neuron diseases. Adv Neurol 1991;56:91-113
    • (1991) Adv Neurol , vol.56 , pp. 91-113
    • Hirano, A.1
  • 33
    • 10244256425 scopus 로고    scopus 로고
    • Mechanisms of selective motor neuron death in transgenic mouse models of motor neuron disease
    • Cleveland DW, Bruijn LI, Wong PC, et al. Mechanisms of selective motor neuron death in transgenic mouse models of motor neuron disease. Neurology 1996;47(4 Suppl 2):S54-61
    • (1996) Neurology , vol.47 , Issue.4 SUPPL. 2
    • Cleveland, D.W.1    Bruijn, L.I.2    Wong, P.C.3
  • 34
    • 0028927649 scopus 로고
    • Neurofilaments, free radicals, excitotoxins, and amyotrophic lateral sclerosis
    • al Chalabi A, Powell JF, Leigh PN. Neurofilaments, free radicals, excitotoxins, and amyotrophic lateral sclerosis. Muscle Nerve 1995;18:540-545
    • (1995) Muscle Nerve , vol.18 , pp. 540-545
    • Chalabi, A.1    Powell, J.F.2    Leigh, P.N.3
  • 35
    • 0028001606 scopus 로고
    • Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis
    • Figlewicz DA, Krizus A, Martinoli MG, et al. Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis. Hum Mol Genet 1994; 3:1757-1761
    • (1994) Hum Mol Genet , vol.3 , pp. 1757-1761
    • Figlewicz, D.A.1    Krizus, A.2    Martinoli, M.G.3
  • 36
    • 0031133076 scopus 로고    scopus 로고
    • Beta-catenin - One player, two games
    • Resnik E. Beta-catenin - one player, two games. Nat Genet 1997;16:9-11
    • (1997) Nat Genet , vol.16 , pp. 9-11
    • Resnik, E.1
  • 37
    • 0030267458 scopus 로고    scopus 로고
    • Rho: Theme and variations
    • Ridley AJ. Rho: theme and variations. Curr Biol 1996;6:1256-1264
    • (1996) Curr Biol , vol.6 , pp. 1256-1264
    • Ridley, A.J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.