메뉴 건너뛰기




Volumn 10, Issue 6, 2000, Pages 407-414

Cerebrotendinous xanthomatosis: Controversies about nerve and muscle: Observations in ten patients

Author keywords

Axonal polyneuropathy; Cerebrotendinous xanthomatosis; Neuromuscular characteristics; Sural nerve

Indexed keywords

ADULT; ARTICLE; CEREBROTENDINOUS XANTHOMATOSIS; CLINICAL ARTICLE; ELECTROMYOGRAPHY; FEMALE; HUMAN; MALE; MUSCLE BIOPSY; MUSCLE WEAKNESS; NERVE BIOPSY; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; SURAL NERVE;

EID: 0034255697     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(00)00112-7     Document Type: Article
Times cited : (32)

References (56)
  • 1
    • 0019827502 scopus 로고
    • Cerebrotendinous xanthomatosis: Defective liver mitochondrial hydroxylation of chenodeoxycholic acid precursors
    • Oftebro H., Björkhem I., Stormer F.C., Pedersen J.I. Cerebrotendinous xanthomatosis: defective liver mitochondrial hydroxylation of chenodeoxycholic acid precursors. J Lipid Res. 22:1981;632-640.
    • (1981) J Lipid Res , vol.22 , pp. 632-640
    • Oftebro, H.1    Björkhem, I.2    Stormer, F.C.3    Pedersen, J.I.4
  • 2
    • 0001003949 scopus 로고
    • Inborn errors in bile acid biosynthesis and storage of sterols other than cholesteral
    • C. Scriver, A.L. Beaudet, W.S. Sly, & D. Valle. New York: McGraw-Hill
    • Björkhem I., Boberg K.M. Inborn errors in bile acid biosynthesis and storage of sterols other than cholesteral. Scriver C., Beaudet A.L., Sly W.S., Valle D. The metabolic and molecular basis of inherited disease, 7th ed. 1995;2273-2299 McGraw-Hill, New York.
    • (1995) The Metabolic and Molecular Basis of Inherited Disease, 7th Ed. , pp. 2273-2299
    • Björkhem, I.1    Boberg, K.M.2
  • 3
    • 0025794067 scopus 로고
    • Use of determinations of 7-lathosterol (5 alpha-cholest-7-en-3 beta-ol) and other cholesterol precursors in serum in the study and treatment of disturbances of sterol metabolism, particularly cerebrotendinous xanthomatosis
    • Wolthers B.G., Walrecht H.T., van der Molen J.C., Nagel G.T., Van Doormaal J.J., Wijnandts P.N. Use of determinations of 7-lathosterol (5 alpha-cholest-7-en-3 beta-ol) and other cholesterol precursors in serum in the study and treatment of disturbances of sterol metabolism, particularly cerebrotendinous xanthomatosis. J Lipid Res. 32:1991;603-612.
    • (1991) J Lipid Res , vol.32 , pp. 603-612
    • Wolthers, B.G.1    Walrecht, H.T.2    Van Der Molen, J.C.3    Nagel, G.T.4    Van Doormaal, J.J.5    Wijnandts, P.N.6
  • 4
    • 0020586748 scopus 로고
    • Diagnosis of cerebrotendinous xanthomatosis (CTX) and effect of chenodeoxycholic acid therapy by analysis of urine using capillary gas chromatography
    • Wolthers B.G., Volmer M., van der Molen J., Koopman B.J., de Jager A.E., Waterreus R.J. Diagnosis of cerebrotendinous xanthomatosis (CTX) and effect of chenodeoxycholic acid therapy by analysis of urine using capillary gas chromatography. Clin Chim Acta. 131:1983;53-65.
    • (1983) Clin Chim Acta , vol.131 , pp. 53-65
    • Wolthers, B.G.1    Volmer, M.2    Van Der Molen, J.3    Koopman, B.J.4    De Jager, A.E.5    Waterreus, R.J.6
  • 5
    • 0024831608 scopus 로고
    • Cerebrotendinous xanthomatosis. Apropos of a case using magnetic resonance study of the brain and nerve biopsy
    • (Letter; in French)
    • Amiel H., Gherardi R., Kanaan H.Y., et al. Cerebrotendinous xanthomatosis. Apropos of a case using magnetic resonance study of the brain and nerve biopsy. (Letter; in French) Ann Med Intern Paris. 140:1989;525-527.
    • (1989) Ann Med Intern Paris , vol.140 , pp. 525-527
    • Amiel, H.1    Gherardi, R.2    Kanaan, H.Y.3
  • 6
    • 0025832842 scopus 로고
    • Peripheral neuropathy in a sporadic case of cerebrotendinous xanthomatosis
    • (in French)
    • Ben Hamida M., Chabbi N., Ben Hamida C., Mhiri C., Kallel R. Peripheral neuropathy in a sporadic case of cerebrotendinous xanthomatosis. (in French) Rev Neurol Paris. 147:1991;385-388.
    • (1991) Rev Neurol Paris , vol.147 , pp. 385-388
    • Ben Hamida, M.1    Chabbi, N.2    Ben Hamida, C.3    Mhiri, C.4    Kallel, R.5
  • 7
    • 0025352863 scopus 로고
    • Cerebrotendinous xanthomatosis: Clinical, electrophysiological and nerve biopsy findings, and response to treatment with chenodeoxycholic acid
    • Donaghy M., King R.H., McKeran R.O., Schwartz M.S., Thomas P.K. Cerebrotendinous xanthomatosis: clinical, electrophysiological and nerve biopsy findings, and response to treatment with chenodeoxycholic acid. J Neurol. 237:1990;216-219.
    • (1990) J Neurol , vol.237 , pp. 216-219
    • Donaghy, M.1    King, R.H.2    McKeran, R.O.3    Schwartz, M.S.4    Thomas, P.K.5
  • 8
    • 0022499759 scopus 로고
    • Chronic demyelinating peripheral neuropathy in cerebrotendinous xanthomatosis
    • Argov Z., Soffer D., Eisenberg S., Zimmerman Y. Chronic demyelinating peripheral neuropathy in cerebrotendinous xanthomatosis. Ann Neurol. 20:1986;89-91.
    • (1986) Ann Neurol , vol.20 , pp. 89-91
    • Argov, Z.1    Soffer, D.2    Eisenberg, S.3    Zimmerman, Y.4
  • 9
    • 0022405664 scopus 로고
    • Peripheral neuropathy in cerebrotendinous xanthomatosis
    • Katz D.A., Scheinberg L., Horoupian D.S., Salen G. Peripheral neuropathy in cerebrotendinous xanthomatosis. Arch Neurol. 42:1985;1008-1010.
    • (1985) Arch Neurol , vol.42 , pp. 1008-1010
    • Katz, D.A.1    Scheinberg, L.2    Horoupian, D.S.3    Salen, G.4
  • 11
    • 0023472033 scopus 로고
    • Polyneuropathy with lipid deposits in Schwann cells and axonal degeneration in cerebrotendinous xanthomatosis
    • Voiculescu V., Alexianu M., Popescu Tismana G., Pastia M., Petrovici A., Dan A. Polyneuropathy with lipid deposits in Schwann cells and axonal degeneration in cerebrotendinous xanthomatosis. J Neurol Sci. 82:1987;89-99.
    • (1987) J Neurol Sci , vol.82 , pp. 89-99
    • Voiculescu, V.1    Alexianu, M.2    Popescu Tismana, G.3    Pastia, M.4    Petrovici, A.5    Dan, A.6
  • 12
    • 0021228947 scopus 로고
    • Neuroaxonal pathology of central and peripheral nervous systems in cerebrotendinous xanthomatosis (CTX)
    • Pop P.H., Joosten E., van Spreeken A., et al. Neuroaxonal pathology of central and peripheral nervous systems in cerebrotendinous xanthomatosis (CTX). Acta Neuropathol (Berlin). 64:1984;259-264.
    • (1984) Acta Neuropathol (Berlin) , vol.64 , pp. 259-264
    • Pop, P.H.1    Joosten, E.2    Van Spreeken, A.3
  • 13
    • 0029114005 scopus 로고
    • The neuropathology of cerebrotendinous xanthomatosis revisited: A case report and review of the literature
    • Soffer D., Benharroch D., Berginer V. The neuropathology of cerebrotendinous xanthomatosis revisited: a case report and review of the literature. Acta Neuropathol. 90:1995;213-220.
    • (1995) Acta Neuropathol , vol.90 , pp. 213-220
    • Soffer, D.1    Benharroch, D.2    Berginer, V.3
  • 14
    • 0028936081 scopus 로고
    • Mitochondrial enzyme deficiency in cerebrotendinous xanthomatosis
    • Dotti M.T., Manneschi L., Federico A. Mitochondrial enzyme deficiency in cerebrotendinous xanthomatosis. J Neurol Sci. 129:1995;106-108.
    • (1995) J Neurol Sci , vol.129 , pp. 106-108
    • Dotti, M.T.1    Manneschi, L.2    Federico, A.3
  • 15
    • 0026004789 scopus 로고
    • Muscle mitochondrial changes in cerebrotendinous xanthomatosis
    • Federico A., Dotti M.T., Volpi N. Muscle mitochondrial changes in cerebrotendinous xanthomatosis. Ann Neurol. 30:1991;734-735.
    • (1991) Ann Neurol , vol.30 , pp. 734-735
    • Federico, A.1    Dotti, M.T.2    Volpi, N.3
  • 18
    • 0023229326 scopus 로고
    • Cerebrotendinous xanthomatosis (CTX): A clinical survey of the patient population in the Netherlands
    • Waterreus R.J., Koopman B.J., Wolthers B.G., Oosterhuis H.J. Cerebrotendinous xanthomatosis (CTX): a clinical survey of the patient population in the Netherlands. Clin Neurol Neurosurg. 89:1987;169-175.
    • (1987) Clin Neurol Neurosurg , vol.89 , pp. 169-175
    • Waterreus, R.J.1    Koopman, B.J.2    Wolthers, B.G.3    Oosterhuis, H.J.4
  • 20
    • 0030759605 scopus 로고    scopus 로고
    • Pulmonary lymphangioleiomyomatosis and cerebrotendinous xanthomatosis: Is there a link?
    • Dormans T., Verrips A., Bulten J., Cox N. Pulmonary lymphangioleiomyomatosis and cerebrotendinous xanthomatosis: is there a link? Chest. 112:1997;273-274.
    • (1997) Chest , vol.112 , pp. 273-274
    • Dormans, T.1    Verrips, A.2    Bulten, J.3    Cox, N.4
  • 21
    • 0029092310 scopus 로고
    • Metachromatic leukodystrophy: A 12-bp deletion in exon 2 of the arylsulfatase A gene in the late infantile variant
    • Luyten J.A.F.M., Wenink P.W., Steenbergen-Spanjers G.C.H., et al. Metachromatic leukodystrophy: a 12-bp deletion in exon 2 of the arylsulfatase A gene in the late infantile variant. Hum Genet. 96:1995;357-360.
    • (1995) Hum Genet , vol.96 , pp. 357-360
    • Luyten, J.A.F.M.1    Wenink, P.W.2    Steenbergen-Spanjers, G.C.H.3
  • 22
    • 0029908729 scopus 로고    scopus 로고
    • Two new mutations in the sterol 27-hydroxylase gene in two families lead to cerebrotendinous xanthomatosis
    • Verrips A., Steenbergen-Spanjers G.C.H., Luyten J.A.F.M., et al. Two new mutations in the sterol 27-hydroxylase gene in two families lead to cerebrotendinous xanthomatosis. Hum Genet. 98:1996;735-737.
    • (1996) Hum Genet , vol.98 , pp. 735-737
    • Verrips, A.1    Steenbergen-Spanjers, G.C.H.2    Luyten, J.A.F.M.3
  • 23
    • 0022623425 scopus 로고
    • A mitochondrial encephalomyopathy: The first case with an established defect at the level of coenzyme Q
    • Fischer J.C., Ruitenbeek W., Gabreëls F.J.M., et al. A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q. Eur J Paediatr. 144:1986;441-444.
    • (1986) Eur J Paediatr , vol.144 , pp. 441-444
    • Fischer, J.C.1    Ruitenbeek, W.2    Gabreëls, F.J.M.3
  • 24
    • 0028276808 scopus 로고
    • Mitochondrial creatine kinase: A major constituent of pathological inclusions seen in mitochondrial myopathies
    • Stadhouders A.M., Jap P.H.K., Winkler H.P., Eppenberger H.M., Walliman T. Mitochondrial creatine kinase: a major constituent of pathological inclusions seen in mitochondrial myopathies. Proc Natl Acad Sci USA. 91:1994;5089-5093.
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 5089-5093
    • Stadhouders, A.M.1    Jap, P.H.K.2    Winkler, H.P.3    Eppenberger, H.M.4    Walliman, T.5
  • 25
    • 0028345558 scopus 로고
    • Cerebrotendinous xanthomatosis: Molecular diagnosis enables presymptomatic detection of a treatable disease
    • Meiner V., Meiner Z., Reshef A., Björkhem I., Leitersdorf E. Cerebrotendinous xanthomatosis: molecular diagnosis enables presymptomatic detection of a treatable disease. Neurology. 44:1994;288-290.
    • (1994) Neurology , vol.44 , pp. 288-290
    • Meiner, V.1    Meiner, Z.2    Reshef, A.3    Björkhem, I.4    Leitersdorf, E.5
  • 26
    • 0028206666 scopus 로고
    • Molecular genetics of cerebrotendinous xanthomatosis in Jews of North African origin
    • Reshef A., Meiner V., Berginer V.M., Leitersdorf E. Molecular genetics of cerebrotendinous xanthomatosis in Jews of North African origin. J Lipid Res. 35:1994;478-483.
    • (1994) J Lipid Res , vol.35 , pp. 478-483
    • Reshef, A.1    Meiner, V.2    Berginer, V.M.3    Leitersdorf, E.4
  • 27
    • 0025914556 scopus 로고
    • Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis
    • Cali J.J., Hsieh C.L., Francke U., Russell D.W. Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. J Biol Chem. 266:1991;7779-7783.
    • (1991) J Biol Chem , vol.266 , pp. 7779-7783
    • Cali, J.J.1    Hsieh, C.L.2    Francke, U.3    Russell, D.W.4
  • 28
    • 8944245008 scopus 로고    scopus 로고
    • Cerebrotendinous xanthomatosis caused by two new mutations of the sterol-27-hydroxylase gene that disrupt mRNA splicing
    • Garuti R., Lelli N., Barozzini M., et al. Cerebrotendinous xanthomatosis caused by two new mutations of the sterol-27-hydroxylase gene that disrupt mRNA splicing. J Lipid Res. 37:1996;1459-1467.
    • (1996) J Lipid Res , vol.37 , pp. 1459-1467
    • Garuti, R.1    Lelli, N.2    Barozzini, M.3
  • 29
    • 0024361841 scopus 로고
    • Cerebrotendinous xanthomatosis: Description of two cases and differential diagnosis in relation to encephalomyelitis disseminata
    • (in German)
    • Diedrich U., Ropte S. Cerebrotendinous xanthomatosis: description of two cases and differential diagnosis in relation to encephalomyelitis disseminata. (in German) Nervenarzt. 60:1989;444-447.
    • (1989) Nervenarzt , vol.60 , pp. 444-447
    • Diedrich, U.1    Ropte, S.2
  • 30
    • 0024428105 scopus 로고
    • Membranocystic lesion in the brain in cerebrotendinous xanthomatosis. Histochemical and ultrastructural study with evidence of its ceroid nature
    • Elleder M., Michalec C., Jirasek A., Khun K., Havlova M., Ranny M. Membranocystic lesion in the brain in cerebrotendinous xanthomatosis. Histochemical and ultrastructural study with evidence of its ceroid nature. Virchows Arch B Cell Pathol. 57:1989;367-374.
    • (1989) Virchows Arch B Cell Pathol , vol.57 , pp. 367-374
    • Elleder, M.1    Michalec, C.2    Jirasek, A.3    Khun, K.4    Havlova, M.5    Ranny, M.6
  • 32
    • 0007098764 scopus 로고
    • A clinical and pathologic investigation of a case with cerebral cholesterinosis
    • (in French)
    • Guillain G., Bertrand I., Godet-Guillain M. A clinical and pathologic investigation of a case with cerebral cholesterinosis. (in French) Rev Neurol. 74:1942;248-263.
    • (1942) Rev Neurol , vol.74 , pp. 248-263
    • Guillain, G.1    Bertrand, I.2    Godet-Guillain, M.3
  • 33
    • 0014641328 scopus 로고
    • Cholestanolosis (cerebrotendinous xanthomatosis). A follow-up study on the original family
    • Philippart M., Van Bogaert L. Cholestanolosis (cerebrotendinous xanthomatosis). A follow-up study on the original family. Arch Neurol. 21:1969;603-610.
    • (1969) Arch Neurol , vol.21 , pp. 603-610
    • Philippart, M.1    Van Bogaert, L.2
  • 34
    • 0014301346 scopus 로고
    • Cerebrotendinous xanthomatosis. Clinical and pathological studies
    • Schimschock J.R., Alvord E.C.J., Swanson P.D. Cerebrotendinous xanthomatosis. Clinical and pathological studies. Arch Neurol. 18:1968;688-698.
    • (1968) Arch Neurol , vol.18 , pp. 688-698
    • Schimschock, J.R.1    Alvord, E.C.J.2    Swanson, P.D.3
  • 36
    • 0030023244 scopus 로고    scopus 로고
    • Cerebrotendinous xanthomatosis: A family study of sterol 27-hydroxylase mutations and pharmacotherapy
    • Watts G., Mitchell W., Bending J., Reshef A., Leitersdorf E. Cerebrotendinous xanthomatosis: a family study of sterol 27-hydroxylase mutations and pharmacotherapy. Q J Med. 89:1996;55-63.
    • (1996) Q J Med , vol.89 , pp. 55-63
    • Watts, G.1    Mitchell, W.2    Bending, J.3    Reshef, A.4    Leitersdorf, E.5
  • 37
    • 0028013348 scopus 로고
    • Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in an Afrikaner family
    • Meiner V., Marais D.A., Reshef A., Björkhem I., Leitersdorf E. Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in an Afrikaner family. Hum Mol Genet. 3:1994;193-194.
    • (1994) Hum Mol Genet , vol.3 , pp. 193-194
    • Meiner, V.1    Marais, D.A.2    Reshef, A.3    Björkhem, I.4    Leitersdorf, E.5
  • 38
    • 0028798653 scopus 로고
    • Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in a French family
    • Segev H., Reshef A., Clavey V., Delbart C., Routier G., Leitersdorf E. Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in a French family. Hum Genet. 95:1995;238-240.
    • (1995) Hum Genet , vol.95 , pp. 238-240
    • Segev, H.1    Reshef, A.2    Clavey, V.3    Delbart, C.4    Routier, G.5    Leitersdorf, E.6
  • 39
    • 0030769397 scopus 로고    scopus 로고
    • Ubiquitin immunostaining and inclusion body myositis: Study of 30 patients with inclusion body myositis
    • Prayson R.A., Cohen M.L. Ubiquitin immunostaining and inclusion body myositis: study of 30 patients with inclusion body myositis. Hum Pathol. 28:1997;887-892.
    • (1997) Hum Pathol , vol.28 , pp. 887-892
    • Prayson, R.A.1    Cohen, M.L.2
  • 40
    • 0029982255 scopus 로고    scopus 로고
    • Mitochondrial abnormalities in oculopharyngeal muscular dystrophy
    • Wong K.T., Dick D., Anderson J.R. Mitochondrial abnormalities in oculopharyngeal muscular dystrophy. Neuromusc Disord. 6:1996;163-166.
    • (1996) Neuromusc Disord , vol.6 , pp. 163-166
    • Wong, K.T.1    Dick, D.2    Anderson, J.R.3
  • 41
    • 0018903253 scopus 로고
    • The occurrence of paracrystalline mitochondrial inclusions in normal human skeletal muscle
    • Hammersen F., Gidlof A., Larsson J., Lewis D.H. The occurrence of paracrystalline mitochondrial inclusions in normal human skeletal muscle. Acta Neuropathol (Berlin). 49:1980;35-41.
    • (1980) Acta Neuropathol (Berlin) , vol.49 , pp. 35-41
    • Hammersen, F.1    Gidlof, A.2    Larsson, J.3    Lewis, D.H.4
  • 42
    • 0023127546 scopus 로고
    • Mitochondrial paracrystalline inclusions in the peroneus brevis muscle of patients with peripheral neuropathy
    • Marbini A., Gemignani F., Bragaglia M.M., Govoni E. Mitochondrial paracrystalline inclusions in the peroneus brevis muscle of patients with peripheral neuropathy. Clin Neuropathol. 6:1987;38-42.
    • (1987) Clin Neuropathol , vol.6 , pp. 38-42
    • Marbini, A.1    Gemignani, F.2    Bragaglia, M.M.3    Govoni, E.4
  • 43
    • 0031782620 scopus 로고    scopus 로고
    • Tubular aggregates in skeletal muscle: Their functional significance and mechanisms of pathogenesis
    • (Editorial)
    • Morgan Hughes J.A. Tubular aggregates in skeletal muscle: their functional significance and mechanisms of pathogenesis. (Editorial) Curr Opin Neurol. 11:1998;439-442.
    • (1998) Curr Opin Neurol , vol.11 , pp. 439-442
    • Morgan Hughes, J.A.1
  • 44
    • 0025062007 scopus 로고
    • Progressive myopathy in hyperkalemic periodic paralysis
    • Bradley W.G., Taylor R., Rice D.R., et al. Progressive myopathy in hyperkalemic periodic paralysis. Arch Neurol. 47:1990;1013-1017.
    • (1990) Arch Neurol , vol.47 , pp. 1013-1017
    • Bradley, W.G.1    Taylor, R.2    Rice, D.R.3
  • 45
    • 0031455944 scopus 로고    scopus 로고
    • On a dominantly inherited myopathy with tubular aggregates
    • Martin J.J., Ceuterick C., Van Goethem G. On a dominantly inherited myopathy with tubular aggregates. Neuromusc Disord. 7:1997;512-520.
    • (1997) Neuromusc Disord , vol.7 , pp. 512-520
    • Martin, J.J.1    Ceuterick, C.2    Van Goethem, G.3
  • 48
    • 0029830612 scopus 로고    scopus 로고
    • Skeletal muscle of patients with gyrate atrophy of the choroid and retina and hyperornithinaemia in ultralow-field magnetic resonance imaging and computed tomography
    • Valtonen M., Nanto Salonen K, Heinanen K, Alanen A, Kalimo H, Simell O. Skeletal muscle of patients with gyrate atrophy of the choroid and retina and hyperornithinaemia in ultralow-field magnetic resonance imaging and computed tomography. J Inherit Metab Dis. 19:1996;729-734.
    • (1996) J Inherit Metab Dis , vol.19 , pp. 729-734
    • Valtonen, M.1    Nanto Salonen, K.2    Heinanen, K.3    Alanen, A.4    Kalimo, H.5    Simell, O.6
  • 49
    • 0022385918 scopus 로고
    • Tubular aggregates. Their association with neuromuscular diseases, including the syndrome of myalgias/cramps
    • Rosenberg N.L., Neville H.E., Ringel S.P. Tubular aggregates. Their association with neuromuscular diseases, including the syndrome of myalgias/cramps. Arch Neurol. 42:1985;973-976.
    • (1985) Arch Neurol , vol.42 , pp. 973-976
    • Rosenberg, N.L.1    Neville, H.E.2    Ringel, S.P.3
  • 50
    • 0021210371 scopus 로고
    • Skeletal muscle changes in chronic alcoholic patients. A conventional, histochemical, ultrastructural and morphometric study
    • Del Villar Negro A., Merino Angulo J., Rivera Pomar J.M. Skeletal muscle changes in chronic alcoholic patients. A conventional, histochemical, ultrastructural and morphometric study. Acta Neurol Scand. 70:1984;185-196.
    • (1984) Acta Neurol Scand , vol.70 , pp. 185-196
    • Del Villar Negro, A.1    Merino Angulo, J.2    Rivera Pomar, J.M.3
  • 52
    • 0021341484 scopus 로고
    • Tubular aggregates in a case of osteomalacic myopathy due to anticonvulsant drugs
    • Doriguzzi C., Mongini T., Jeantet A., Monga G. Tubular aggregates in a case of osteomalacic myopathy due to anticonvulsant drugs. Clin Neuropathol. 3:1984;42-45.
    • (1984) Clin Neuropathol , vol.3 , pp. 42-45
    • Doriguzzi, C.1    Mongini, T.2    Jeantet, A.3    Monga, G.4
  • 54
    • 0019519075 scopus 로고
    • Permanent axotomy, a model of axonal atrophy and secondary segmental demyelination and remyelination
    • Dyck P.J., Lais A.G., Karnes J.L., et al. Permanent axotomy, a model of axonal atrophy and secondary segmental demyelination and remyelination. Ann Neurol. 9:1981;575-583.
    • (1981) Ann Neurol , vol.9 , pp. 575-583
    • Dyck, P.J.1    Lais, A.G.2    Karnes, J.L.3
  • 55
    • 0031612929 scopus 로고    scopus 로고
    • Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group
    • Antonarakis S.E. Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group. Hum Mutat. 11:1998;1-3.
    • (1998) Hum Mutat , vol.11 , pp. 1-3
    • Antonarakis, S.E.1
  • 56
    • 0012381778 scopus 로고
    • Pathologic alterations of the peripheral nervous system of man
    • P.J. Dyck, P.K. Thomas, & E.H. Lambert. Philadelphia, PA: W.B. Saunders
    • Dyck P.J. Pathologic alterations of the peripheral nervous system of man. Dyck P.J., Thomas P.K., Lambert E.H. Peripheral neuropathy. 1975;296-336 W.B. Saunders, Philadelphia, PA.
    • (1975) Peripheral Neuropathy , pp. 296-336
    • Dyck, P.J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.