메뉴 건너뛰기




Volumn 66, Issue 4, 1999, Pages 417-430

Neurology and the skin

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBIOTIC AGENT; COLCHICINE; IMMUNOSUPPRESSIVE AGENT; STEROID;

EID: 0032969624     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.66.4.417     Document Type: Review
Times cited : (10)

References (115)
  • 3
    • 34548196300 scopus 로고    scopus 로고
    • 3Online mendelian inheritance in man (OMIM). http:// www3.ncbi.nlm.nih.gov/Omim.
  • 4
    • 0023491951 scopus 로고
    • Neurologic manifestations of AIDS
    • McArthur JC. Neurologic manifestations of AIDS. Medicine 1987;66:407-37.
    • (1987) Medicine , vol.66 , pp. 407-437
    • McArthur, J.C.1
  • 5
    • 34548195940 scopus 로고    scopus 로고
    • Hughes RAC, ed. London: BMJ Publishing Group
    • Anderson M. In Neurological emergencies. Hughes RAC, ed. London: BMJ Publishing Group, 1997:225-271.
    • (1997) Neurological Emergencies , pp. 225-271
    • Anderson, M.1
  • 6
    • 0030856720 scopus 로고    scopus 로고
    • Familial antiphospholipid syndrome and HLA-DRB gene associations
    • Hudson N, Busque L, Rauch J, et al. Familial antiphospholipid syndrome and HLA-DRB gene associations. Arthritis Rheum 1997;40:1907-8.
    • (1997) Arthritis Rheum , vol.40 , pp. 1907-1908
    • Hudson, N.1    Busque, L.2    Rauch, J.3
  • 7
    • 0031841288 scopus 로고    scopus 로고
    • Neurology of the vasculitides and connective tissue diseases
    • Moore PM, Richardson B. Neurology of the vasculitides and connective tissue diseases. J Neurol Neurosurg Psychiatry 1998;65:10-22.
    • (1998) J Neurol Neurosurg Psychiatry , vol.65 , pp. 10-22
    • Moore, P.M.1    Richardson, B.2
  • 8
    • 0028908094 scopus 로고
    • The management of thromboses in the antiphospholipid syndrome
    • Khamashta MA, et al. The management of thromboses in the antiphospholipid syndrome. N Engl J Med 1995;332: 993-7.
    • (1995) N Engl J Med , vol.332 , pp. 993-997
    • Khamashta, M.A.1
  • 9
    • 0025335464 scopus 로고
    • A Fabry's disease heterozygote with a new mutation: Biochemical, ultrastructural, and clinical investigations
    • Hasholt L, Sorensen SA, Wandall A, et al. A Fabry's disease heterozygote with a new mutation: biochemical, ultrastructural, and clinical investigations. J Med Genet 1990;27:303-6.
    • (1990) J Med Genet , vol.27 , pp. 303-306
    • Hasholt, L.1    Sorensen, S.A.2    Wandall, A.3
  • 10
    • 0014458332 scopus 로고
    • A study of Fabry's disease. I. Clinical examination of a family with cornea verticillata
    • Franceschetti AT, Philippart M,. Franceschetti A. A study of Fabry's disease. I. Clinical examination of a family with cornea verticillata. Dermatologica 1969;138:209-21
    • (1969) Dermatologica , vol.138 , pp. 209-221
    • Franceschetti, A.T.1    Philippart, M.2    Franceschetti, A.3
  • 11
    • 0023904759 scopus 로고
    • Severe orthostatic hypotension in a female carrier of Fabry's disease
    • Mutoh T, Senda Y, Sugimura K, et al. Severe orthostatic hypotension in a female carrier of Fabry's disease. Arch Neurol 1988;45:468-72.
    • (1988) Arch Neurol , vol.45 , pp. 468-472
    • Mutoh, T.1    Senda, Y.2    Sugimura, K.3
  • 12
    • 0019844992 scopus 로고
    • Fabry cardiomyopathy in the female confirmed by endomyocardial biopsy
    • Broadbent JC, Edwards WD, Gordon H, et al. Fabry cardiomyopathy in the female confirmed by endomyocardial biopsy. Mayo Clin Proc 1981;56:623-8.
    • (1981) Mayo Clin Proc , vol.56 , pp. 623-628
    • Broadbent, J.C.1    Edwards, W.D.2    Gordon, H.3
  • 13
    • 0018251339 scopus 로고
    • Neurological manifestations of Fabry disease in female carriers
    • Bird TD, Lagunoff D. Neurological manifestations of Fabry disease in female carriers. Ann Neurol 1978;4:537-40.
    • (1978) Ann Neurol , vol.4 , pp. 537-540
    • Bird, T.D.1    Lagunoff, D.2
  • 14
    • 0028957079 scopus 로고
    • The genetic epidemiology of leprosy in a Brazilian population
    • Feitosa MF, Borecki I, Krieger H, et al. The genetic epidemiology of leprosy in a Brazilian population. Am J Hum Genet 1995;56:1179-85.
    • (1995) Am J Hum Genet , vol.56 , pp. 1179-1185
    • Feitosa, M.F.1    Borecki, I.2    Krieger, H.3
  • 16
    • 0030498842 scopus 로고    scopus 로고
    • Nerve function impairment at diagnosis and at completion of MDT: A retrospective cohort study of 786 patients in Bangladesh
    • Richardus JH, Finlay KM, Croft RP, et al. Nerve function impairment at diagnosis and at completion of MDT: a retrospective cohort study of 786 patients in Bangladesh. Lepr Rev 1996;67:297-305.
    • (1996) Lepr Rev , vol.67 , pp. 297-305
    • Richardus, J.H.1    Finlay, K.M.2    Croft, R.P.3
  • 17
    • 0028569068 scopus 로고
    • Silent neuropathy in leprosy: An epidemiological description
    • Van Brakel WH, Khawas IB. Silent neuropathy in leprosy: an epidemiological description. Lepr Rev 1994;65:350-60.
    • (1994) Lepr Rev , vol.65 , pp. 350-360
    • Van Brakel, W.H.1    Khawas, I.B.2
  • 18
    • 0024506610 scopus 로고
    • The role of nerve biopsies in the diagnosis and management of leprosy
    • Nilsen R, Mengistu G, Reddy BB. The role of nerve biopsies in the diagnosis and management of leprosy. Lepr Rev 1989;60:28-32.
    • (1989) Lepr Rev , vol.60 , pp. 28-32
    • Nilsen, R.1    Mengistu, G.2    Reddy, B.B.3
  • 19
    • 0030998469 scopus 로고    scopus 로고
    • Peripheral nervous system Lyme borreliosis
    • Logigian EL. Peripheral nervous system Lyme borreliosis. Semin Neurol 1997;17:25-30.
    • (1997) Semin Neurol , vol.17 , pp. 25-30
    • Logigian, E.L.1
  • 20
    • 0032495510 scopus 로고
    • Nervous system Lyme disease
    • Halperin JJ. Nervous system Lyme disease. J Neurol Sci 1988;153:182-91.
    • (1988) J Neurol Sci , vol.153 , pp. 182-191
    • Halperin, J.J.1
  • 21
    • 0032030801 scopus 로고    scopus 로고
    • The consequences of over diagnosis and over treatment of Lyme disease: An observational study
    • Reid MC, Schoen RT, Evans J, et al. The consequences of over diagnosis and over treatment of Lyme disease: an observational study. Ann Intern Med 1998;128:354-62.
    • (1998) Ann Intern Med , vol.128 , pp. 354-362
    • Reid, M.C.1    Schoen, R.T.2    Evans, J.3
  • 22
    • 0031909320 scopus 로고    scopus 로고
    • Pitfalls in the diagnosis and management of Lyme disease
    • Sigal LH. Pitfalls in the diagnosis and management of Lyme disease. Arthritis Rheum 1998;41:195-204.
    • (1998) Arthritis Rheum , vol.41 , pp. 195-204
    • Sigal, L.H.1
  • 23
    • 0031026572 scopus 로고    scopus 로고
    • Triplet repeat polymorphism in the transmembrane region of the MICA gene: A strong association of six GCT repetitions with Behçet disease
    • Mizuki N, Ota M, Kimura M, et al. Triplet repeat polymorphism in the transmembrane region of the MICA gene: a strong association of six GCT repetitions with Behçet disease. Proc Natl Acad Sci USA 1997;94:1298-303.
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 1298-1303
    • Mizuki, N.1    Ota, M.2    Kimura, M.3
  • 24
    • 0031303180 scopus 로고    scopus 로고
    • Clinical manifestations of Behçet's disease: An analysis of 2147 patients
    • Gurler A, Boyvat A, Tursen U. Clinical manifestations of Behçet's disease: an analysis of 2147 patients. Yonsei Med J 1997;38:423-27.
    • (1997) Yonsei Med J , vol.38 , pp. 423-427
    • Gurler, A.1    Boyvat, A.2    Tursen, U.3
  • 25
    • 0031594559 scopus 로고    scopus 로고
    • Behçet's syndrome: A report of 41 patients with emphasis on neurological manifestations
    • Farah S, Al-Shubaili A, Montaser A, et al. Behçet's syndrome: a report of 41 patients with emphasis on neurological manifestations. J Neurol Neurosurg Psychiatry 1998; 64:382-4.
    • (1998) J Neurol Neurosurg Psychiatry , vol.64 , pp. 382-384
    • Farah, S.1    Al-Shubaili, A.2    Montaser, A.3
  • 26
    • 0025770315 scopus 로고
    • Sarcoidosis of the nervous system. A clinical approach
    • Sharma OP, Sharma AM. Sarcoidosis of the nervous system. A clinical approach. Arch Intern Med 1991;151: 1317-21.
    • (1991) Arch Intern Med , vol.151 , pp. 1317-1321
    • Sharma, O.P.1    Sharma, A.M.2
  • 27
    • 0021889161 scopus 로고
    • Sarcoidosis and its neurological manifestations
    • Stern BJ, Krumholz A, Johns C, et al. Sarcoidosis and its neurological manifestations. Arch Neurol 1985;42:909-17.
    • (1985) Arch Neurol , vol.42 , pp. 909-917
    • Stern, B.J.1    Krumholz, A.2    Johns, C.3
  • 28
    • 0027121632 scopus 로고
    • Acquired syphilis in adults
    • EW Hook, Marra CM. Acquired syphilis in adults. N Engl J Med 1992;326:1060-9.
    • (1992) N Engl J Med , vol.326 , pp. 1060-1069
    • Hook, E.W.1    Marra, C.M.2
  • 29
    • 0344435289 scopus 로고
    • Syphilis and other treponematoses
    • Fitzpatrick TB, Eisen AZ, Wolff K, et al, eds. New York: McGraw-Hill
    • Rhodes AR, Luger AFH. Syphilis and other treponematoses. In: Fitzpatrick TB, Eisen AZ, Wolff K, et al, eds. Dermatology in general medicine. 3rd ed. New York: McGraw-Hill 1987:2395-451.
    • (1987) Dermatology in General Medicine. 3rd Ed. , pp. 2395-2451
    • Rhodes, A.R.1    Luger, A.F.H.2
  • 31
    • 0006405136 scopus 로고
    • Varicella virus infections
    • Isselbacher KJ, Braunwald E, Wilson JD, et al, eds. New York: McGraw-Hill
    • Whitley RJ. Varicella virus infections. In: Isselbacher KJ, Braunwald E, Wilson JD, et al, eds. Harrison's principles of internal medicine. 13th ed. New York: McGraw-Hill, 1994: 787-90.
    • (1994) Harrison's Principles of Internal Medicine. 13th Ed. , pp. 787-790
    • Whitley, R.J.1
  • 32
    • 34547383153 scopus 로고
    • Disorders of hearing
    • Asbury AK, McKhann GM, McDonald WI. Philadelphia: WB Saunders
    • Luxon LM. Disorders of hearing. In: Asbury AK, McKhann GM, McDonald WI. Diseases of the nervous system: clinical neurobiology. Philadelphia: WB Saunders, 1992:434-50.
    • (1992) Diseases of the Nervous System: Clinical Neurobiology , pp. 434-450
    • Luxon, L.M.1
  • 34
    • 0021911924 scopus 로고
    • Serious head injury in infants: Accident or abuse
    • Billmire ME, Myers PA. Serious head injury in infants: accident or abuse. Pediatrics 1985;75:340-2.
    • (1985) Pediatrics , vol.75 , pp. 340-342
    • Billmire, M.E.1    Myers, P.A.2
  • 36
    • 0027376430 scopus 로고
    • Shaken baby syndrome: Inflicted cerebral trauma
    • Krugman RD, Bays JA, Chadwick DL, et al. Shaken baby syndrome: inflicted cerebral trauma. Pediatrics 1992;92: 872-5.
    • (1992) Pediatrics , vol.92 , pp. 872-875
    • Krugman, R.D.1    Bays, J.A.2    Chadwick, D.L.3
  • 37
    • 0031040663 scopus 로고    scopus 로고
    • Non-accidental injury: Confusion with temporary brittle bone disease and mild osteogenesis imperfecta
    • Ablin DS, Sane SM. Non-accidental injury: confusion with temporary brittle bone disease and mild osteogenesis imperfecta. Pediatr Radiol 1997;27:111-3.
    • (1997) Pediatr Radiol , vol.27 , pp. 111-113
    • Ablin, D.S.1    Sane, S.M.2
  • 38
    • 0025143643 scopus 로고
    • Diagnostic imaging in infant abuse
    • Kleinman PK. Diagnostic imaging in infant abuse. AJR Am J Roentgenol 1990;155:703-12.
    • (1990) AJR Am J Roentgenol , vol.155 , pp. 703-712
    • Kleinman, P.K.1
  • 39
    • 0031960307 scopus 로고    scopus 로고
    • Simultaneous ischemic and hemorrhagic lesions of the brain detected by CT scan in a patient with thrombotic thrombocytopenic purpura
    • Guzzini F, Conti A, Esposito F. Simultaneous ischemic and hemorrhagic lesions of the brain detected by CT scan in a patient with thrombotic thrombocytopenic purpura Haematologica 1998;83:280.
    • (1998) Haematologica , vol.83 , pp. 280
    • Guzzini, F.1    Conti, A.2    Esposito, F.3
  • 40
    • 0031455058 scopus 로고    scopus 로고
    • Intensive plasmapheresis for severe thrombotic thrombocytopenic purpura: Long-term clinical outcome
    • Rund D, Schaap T, Gillis S. Intensive plasmapheresis for severe thrombotic thrombocytopenic purpura: long-term clinical outcome. J Clin Apheresis 1997;12:194-5.
    • (1997) J Clin Apheresis , vol.12 , pp. 194-195
    • Rund, D.1    Schaap, T.2    Gillis, S.3
  • 42
    • 0023885121 scopus 로고
    • Neurofibromatosis: Conference statement
    • National Institutes of Health Consensus Conference. Neurofibromatosis: conference statement. Arch Neurol 1988:575-8
    • (1988) Arch Neurol , pp. 575-578
  • 43
    • 0030957310 scopus 로고    scopus 로고
    • The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2
    • Gutmann DH, Aylsworth A, Carey JC, et al. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA 1997;278: 51-72.
    • (1997) JAMA , vol.278 , pp. 51-72
    • Gutmann, D.H.1    Aylsworth, A.2    Carey, J.C.3
  • 44
    • 0000558102 scopus 로고    scopus 로고
    • Clinical aspects of neurofibromatosis 1
    • M. Upadhyaya and DN Cooper, eds. Oxford: BIOS
    • Ferner RE. Clinical aspects of neurofibromatosis 1. in M. Upadhyaya and DN Cooper, eds. Neurofibromatosis type 1: from genotype to phenotype. Oxford: BIOS, 1998:21-38
    • (1998) Neurofibromatosis Type 1: from Genotype to Phenotype , pp. 21-38
    • Ferner, R.E.1
  • 45
    • 0027486718 scopus 로고
    • Neurofibromatosis and childhood cancer
    • Matsui I, Tanimura M, Kobayashi N, et al. Neurofibromatosis and childhood cancer. Cancer 1993;72:2746-54.
    • (1993) Cancer , vol.72 , pp. 2746-2754
    • Matsui, I.1    Tanimura, M.2    Kobayashi, N.3
  • 46
    • 0029882903 scopus 로고    scopus 로고
    • Intellectual impairment in neurofibromatosis 1
    • Ferner RE, Hughes RA, Weinman J. Intellectual impairment in neurofibromatosis 1. Neurol Sci 1996;138:125-33.
    • (1996) Neurol Sci , vol.138 , pp. 125-133
    • Ferner, R.E.1    Hughes, R.A.2    Weinman, J.3
  • 47
    • 2642683203 scopus 로고    scopus 로고
    • Magnetic resonance imaging lesion analysis in neurofibromatosis type 1
    • DiMario FJ Jr, Ramsby G. Magnetic resonance imaging lesion analysis in neurofibromatosis type 1. Arch Neurol 1998;55:500-5.
    • (1998) Arch Neurol , vol.55 , pp. 500-505
    • Dimario Jr., F.J.1    Ramsby, G.2
  • 48
    • 0029930065 scopus 로고    scopus 로고
    • Relationship between T2-weighted hyperintensities (unidentified bright objects) and lower IQs in children with neurofibromatosis-1
    • Denckla MB, Hofman K, Mazzocco MM et al. Relationship between T2-weighted hyperintensities (unidentified bright objects) and lower IQs in children with neurofibromatosis-1. Am J Med Genet 1996;67:98-102.
    • (1996) Am J Med Genet , vol.67 , pp. 98-102
    • Denckla, M.B.1    Hofman, K.2    Mazzocco, M.M.3
  • 49
    • 0027276978 scopus 로고
    • NRI in neurofibromatosis 1. The nature and evolution of increased intensity T2 weighted lesions and their relationship to intellectual impairment
    • Ferner RE, Chaudhuri, Bingham J, et al. NRI in neurofibromatosis 1. The nature and evolution of increased intensity T2 weighted lesions and their relationship to intellectual impairment. J Neurol Neurosurg Psychiatry 1993;56:492-5.
    • (1993) J Neurol Neurosurg Psychiatry , vol.56 , pp. 492-495
    • Ferner, R.E.1    Chaudhuri2    Bingham, J.3
  • 50
    • 0029120950 scopus 로고
    • Loss of neurofibromin results in neurotrophin-independent survival of embryonic sensory and sympathetic nerurons
    • Vogel KS, Brannan CI, Jenkins NA, et al. Loss of neurofibromin results in neurotrophin-independent survival of embryonic sensory and sympathetic nerurons. Cell 1995;82:733-12.
    • (1995) Cell , vol.82 , pp. 733-812
    • Vogel, K.S.1    Brannan, C.I.2    Jenkins, N.A.3
  • 51
    • 0024456038 scopus 로고
    • A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity
    • Huson SM, Compston DA, Clark P, et al. A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity. J Med Genet 1989;26:704-11.
    • (1989) J Med Genet , vol.26 , pp. 704-711
    • Huson, S.M.1    Compston, D.A.2    Clark, P.3
  • 52
    • 0031657522 scopus 로고    scopus 로고
    • Neurofibromatosis type 1 (NF1): A protein truncation assay yielding identification of mutations in 73% of patients
    • Park VM, Pivnick EK. Neurofibromatosis type 1 (NF1): a protein truncation assay yielding identification of mutations in 73% of patients. J Med Genet 1998,35:813-20.
    • (1998) J Med Genet , vol.35 , pp. 813-820
    • Park, V.M.1    Pivnick, E.K.2
  • 53
    • 0027029581 scopus 로고
    • Analysis of mutations at the neurofibromatosis l (NF1) locus
    • Upadhyaya M, Shen M, Cherryson A, et al. Analysis of mutations at the neurofibromatosis l (NF1) locus. Hum Molec Genet 1992;1:735-10.
    • (1992) Hum Molec Genet , vol.1 , pp. 735-810
    • Upadhyaya, M.1    Shen, M.2    Cherryson, A.3
  • 54
    • 0029981434 scopus 로고    scopus 로고
    • The neuroimaging and clinical spectrum of neurofibromatosis 2
    • Mautner VF, Lindenau M, Baser ME, et al. The neuroimaging and clinical spectrum of neurofibromatosis 2. Neurosurgery 1996;38:880-5.
    • (1996) Neurosurgery , vol.38 , pp. 880-885
    • Mautner, V.F.1    Lindenau, M.2    Baser, M.E.3
  • 55
    • 0027937181 scopus 로고
    • Neurofibromatosis 2 (NF2): Clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity
    • Parry DM, Eldridge R, Kaiser-Kupfer MI, et al. Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity. Am J Med Genet 1994;52:450-61
    • (1994) Am J Med Genet , vol.52 , pp. 450-461
    • Parry, D.M.1    Eldridge, R.2    Kaiser-Kupfer, M.I.3
  • 57
    • 0026746684 scopus 로고
    • A clinical study of type 2 neurofibromatosis
    • Evans DGR, Huson SM, Donnai D, et al. A clinical study of type 2 neurofibromatosis. Q J Med 1992;84:603-18.
    • (1992) Q J Med , vol.84 , pp. 603-618
    • Evans, D.G.R.1    Huson, S.M.2    Donnai, D.3
  • 58
    • 0015840595 scopus 로고
    • Neurofibromatosis
    • Tokyo
    • Niimura, M. Neurofibromatosis. Rinsho Derma (Tokyo) 1973;15:653-63.
    • (1973) Rinsho Derma , vol.15 , pp. 653-663
    • Niimura, M.1
  • 59
    • 0028833097 scopus 로고
    • Neurofibromatosis 2 and neurilemmomatosis gene are identical
    • Honda M, Arai E, Sawada S, et al. Neurofibromatosis 2 and neurilemmomatosis gene are identical. J Invest Derm 1995; 104:74-7.
    • (1995) J Invest Derm , vol.104 , pp. 74-77
    • Honda, M.1    Arai, E.2    Sawada, S.3
  • 60
    • 0031440868 scopus 로고    scopus 로고
    • Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis
    • Jacoby LB, Jones D, Davis K, et al. Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis. Am J Hum Genet 1997;61:1293-02.
    • (1997) Am J Hum Genet , vol.61 , pp. 1293-1302
    • Jacoby, L.B.1    Jones, D.2    Davis, K.3
  • 61
    • 0030979159 scopus 로고    scopus 로고
    • Spinal and cutaneous schwannomatosis is a variant form of type 2 neurofibromatosis: A clinical and molecular study
    • Evans DG, Mason S, Huson SM, et al. Spinal and cutaneous schwannomatosis is a variant form of type 2 neurofibromatosis: a clinical and molecular study. J Neurol Neurosurg Psychiatry 1997;62:361-6.
    • (1997) J Neurol Neurosurg Psychiatry , vol.62 , pp. 361-366
    • Evans, D.G.1    Mason, S.2    Huson, S.M.3
  • 62
    • 0343484335 scopus 로고    scopus 로고
    • Multiple schwannomas: Schwannomatosis or neurofibromatosis type 2?
    • Seppala MT, Sainio MA, Haltia MJ. Multiple schwannomas: schwannomatosis or neurofibromatosis type 2? J Neurosurg 1998;89:36-41.
    • (1998) J Neurosurg , vol.89 , pp. 36-41
    • Seppala, M.T.1    Sainio, M.A.2    Haltia, M.J.3
  • 63
    • 0029900158 scopus 로고    scopus 로고
    • The cutaneous features of tuberous sclerosis: A population study
    • Webb DW, Clarke A, Fryer A, et al. The cutaneous features of tuberous sclerosis: a population study. Br J Dermatol 1996;35:1-5.
    • (1996) Br J Dermatol , vol.35 , pp. 1-5
    • Webb, D.W.1    Clarke, A.2    Fryer, A.3
  • 65
    • 0030696314 scopus 로고    scopus 로고
    • Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis
    • Jones AC, Daniells CE, Snell RG, et al. Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis. Hum Molec Genet 1997;6:2155-61.
    • (1997) Hum Molec Genet , vol.6 , pp. 2155-2161
    • Jones, A.C.1    Daniells, C.E.2    Snell, R.G.3
  • 67
    • 0019478575 scopus 로고
    • A new chromosomal instability disorder: The Nijmegen breakage syndrome
    • Weemaes CMR, Hustinx TWJ, Scheres, et al. A new chromosomal instability disorder: the Nijmegen breakage syndrome. Acta Paediat Scand 1981;70:557-64.
    • (1981) Acta Paediat Scand , vol.70 , pp. 557-564
    • Weemaes, C.M.R.1    Hustinx, T.W.J.2    Scheres3
  • 69
  • 71
    • 0027363027 scopus 로고
    • Three-decade investigation of familial pheochromocytoma: An allele of von Hippel-Lindau disease?
    • Tisherman SE, Tisherman BG, Tisherman SA, et al. Three-decade investigation of familial pheochromocytoma: an allele of von Hippel-Lindau disease? Arch Intern Med 1993; 153:2550-6.
    • (1993) Arch Intern Med , vol.153 , pp. 2550-2556
    • Tisherman, S.E.1    Tisherman, B.G.2    Tisherman, S.A.3
  • 72
    • 0028970197 scopus 로고
    • The molecular basis of Turcot's syndrome
    • Hamilton SR, Liu B, Parsons RE, et al. The molecular basis of Turcot's syndrome. N Engl J Med 1995;332:839-47.
    • (1995) N Engl J Med , vol.332 , pp. 839-847
    • Hamilton, S.R.1    Liu, B.2    Parsons, R.E.3
  • 73
    • 0025954461 scopus 로고
    • Monozygotic twins discordant for the major signs of McCune-Albright syndrome
    • Endo M, Yamada Y, Matsuura N, et al. Monozygotic twins discordant for the major signs of McCune-Albright syndrome. Am J Med Genet 1991;41:216-20.
    • (1991) Am J Med Genet , vol.41 , pp. 216-220
    • Endo, M.1    Yamada, Y.2    Matsuura, N.3
  • 74
    • 0027268222 scopus 로고
    • Neurosurgical considerations in skeletal dysplasias
    • Hurko O, Uematsu S. Neurosurgical considerations in skeletal dysplasias. Neurosurgical Quarterly 1993;3:192-217.
    • (1993) Neurosurgical Quarterly , vol.3 , pp. 192-217
    • Hurko, O.1    Uematsu, S.2
  • 75
    • 84944660255 scopus 로고
    • Hereditary congenital hypopigmented and hyperpigmented macules
    • Westerhof W, Beemer FA, Cormane RH et al. Hereditary congenital hypopigmented and hyperpigmented macules. Arch Dermatol 1978;114:931-6.
    • (1978) Arch Dermatol , vol.114 , pp. 931-936
    • Westerhof, W.1    Beemer, F.A.2    Cormane, R.H.3
  • 76
    • 0023777675 scopus 로고    scopus 로고
    • Russell-Silver syndrome
    • Patton MA. Russell-Silver syndrome. J Med Genet 1998;25: 557-60.
    • (1998) J Med Genet , vol.25 , pp. 557-560
    • Patton, M.A.1
  • 77
    • 0028971493 scopus 로고
    • Familial cafe au lait spots: A variant of neurofibromatosis type 1
    • Abeliovich D, Gelman-Kohan Z, Silverstein S, et al. Familial cafe au lait spots: a variant of neurofibromatosis type 1. J Med Genet 1995;32:985-6.
    • (1995) J Med Genet , vol.32 , pp. 985-986
    • Abeliovich, D.1    Gelman-Kohan, Z.2    Silverstein, S.3
  • 78
    • 0027526289 scopus 로고
    • Autosomal dominant multiple cafe-au-lait spots and neurofibromatosis-1: Evidence of non-linkage
    • Charrow J, Listernick R, Ward K. Autosomal dominant multiple cafe-au-lait spots and neurofibromatosis-1: evidence of non-linkage. Am J Med Genet 1993;45:606-8.
    • (1993) Am J Med Genet , vol.45 , pp. 606-608
    • Charrow, J.1    Listernick, R.2    Ward, K.3
  • 79
    • 0000694354 scopus 로고    scopus 로고
    • Amyloid, familial Mediterranean fever, and acute phase response
    • Weatherall DJ, Ledingham JGG, Worrell DA, eds. Oxford: Oxford University Press
    • Pepys MB. Amyloid, familial Mediterranean fever, and acute phase response. In: Weatherall DJ, Ledingham JGG, Worrell DA, eds. Oxford textbook of medicine 3rd ed. Vol 2. Oxford: Oxford University Press, 1996:1512-33.
    • (1996) Oxford Textbook of Medicine 3rd Ed. , vol.2 , pp. 1512-1533
    • Pepys, M.B.1
  • 80
    • 0027938911 scopus 로고
    • Correlation between clinical, electromyographic and dysautonomic evolution of familial amyloidotic polyneuropathy of the Portuguese type
    • Ducla-Soares J, Alves MM, Carvalho M, et al. Correlation between clinical, electromyographic and dysautonomic evolution of familial amyloidotic polyneuropathy of the Portuguese type. Acta Neurol Scand 1994;90:266-9.
    • (1994) Acta Neurol Scand , vol.90 , pp. 266-269
    • Ducla-Soares, J.1    Alves, M.M.2    Carvalho, M.3
  • 81
    • 0023741439 scopus 로고
    • Familial oculoleptomeningeal amyloidosis: Report of a new family with unusual features
    • Uitti RJ, Donat JR, Rozdilsky B, et al. Familial oculoleptomeningeal amyloidosis: report of a new family with unusual features. Arch Neurol 1988;45:1118-22.
    • (1988) Arch Neurol , vol.45 , pp. 1118-1122
    • Uitti, R.J.1    Donat, J.R.2    Rozdilsky, B.3
  • 83
    • 0024266367 scopus 로고
    • Meningitis in familial Mediterranean fever
    • Schwabe AD, Monroe JB. Meningitis in familial Mediterranean fever. Am J Med 1988;85:715-7.
    • (1988) Am J Med , vol.85 , pp. 715-717
    • Schwabe, A.D.1    Monroe, J.B.2
  • 84
    • 16944365196 scopus 로고    scopus 로고
    • A candidate gene for familial Mediterranean fever
    • French FMF consortium. A candidate gene for familial Mediterranean fever. Nat Genet 1997;17:25-31.
    • (1997) Nat Genet , vol.17 , pp. 25-31
    • French, F.M.F.1
  • 85
    • 0030695035 scopus 로고    scopus 로고
    • Vertical translocation: The enigma of the disappearing atlantodens interval in patients with myelopathy and rheumatoid arthritis. Part I. Clinical, radiological, and neuropathological features
    • Casey AT, Crockard HA, Geddes JF, et al. Vertical translocation: the enigma of the disappearing atlantodens interval in patients with myelopathy and rheumatoid arthritis. Part I. Clinical, radiological, and neuropathological features. J Neurosurg 1997;87:856-62.
    • (1997) J Neurosurg , vol.87 , pp. 856-862
    • Casey, A.T.1    Crockard, H.A.2    Geddes, J.F.3
  • 86
    • 0031441679 scopus 로고    scopus 로고
    • Necrotizing peripheral nerve vasculitis
    • Said G. Necrotizing peripheral nerve vasculitis. Neurol Clin 1997;15:835-48.
    • (1997) Neurol Clin , vol.15 , pp. 835-848
    • Said, G.1
  • 87
    • 0016606775 scopus 로고
    • Cerebral vasculitis in rheumatoid arthritis
    • Ramos M, Mandybur TI. Cerebral vasculitis in rheumatoid arthritis. Arch Neurol 1975;32:271-1.
    • (1975) Arch Neurol , vol.32 , pp. 271-271
    • Ramos, M.1    Mandybur, T.I.2
  • 88
    • 0027365099 scopus 로고
    • Nervous system involvement in systemic lupus erythematosus, Sjögren's syndrome, and scleroderma
    • Hietaharju A, Jantti V, Korpela M, et al. Nervous system involvement in systemic lupus erythematosus, Sjögren's syndrome, and scleroderma. Acta Neurol Scand 1993;88: 299-308.
    • (1993) Acta Neurol Scand , vol.88 , pp. 299-308
    • Hietaharju, A.1    Jantti, V.2    Korpela, M.3
  • 89
    • 0026544121 scopus 로고
    • Localised scleroderma and hemiatrophy in association with antibodies to double-stranded DNA
    • Adebajo AO, Crisp AJ, Nicholls A, et al. Localised scleroderma and hemiatrophy in association with antibodies to double-stranded DNA. Postgrad Med J 1992;68:216-8.
    • (1992) Postgrad Med J , vol.68 , pp. 216-218
    • Adebajo, A.O.1    Crisp, A.J.2    Nicholls, A.3
  • 90
    • 0029386022 scopus 로고
    • Sensory ataxic neuropathy associated with Sjögren's syndrome
    • Yasuda T, Kumazawa K, Sobue G. Sensory ataxic neuropathy associated with Sjögren's syndrome. Nippon Rinsho 1995;53:2568-73.
    • (1995) Nippon Rinsho , vol.53 , pp. 2568-2573
    • Yasuda, T.1    Kumazawa, K.2    Sobue, G.3
  • 91
    • 0019961566 scopus 로고
    • Neurologic complications of primary Sjögren's syndrome
    • Alexander EL, Provost TT, Stevens MB, et al. Neurologic complications of primary Sjögren's syndrome. Medicine 1982;61:247-57.
    • (1982) Medicine , vol.61 , pp. 247-257
    • Alexander, E.L.1    Provost, T.T.2    Stevens, M.B.3
  • 92
    • 0026671704 scopus 로고
    • Central nervous system disease in Sjögren's syndrome: New insights in immunopathogenesis
    • Alexander E. Central nervous system disease in Sjögren's syndrome: new insights in immunopathogenesis. Rheum Dis Clin North Am 1992;18:637-62.
    • (1992) Rheum Dis Clin North Am , vol.18 , pp. 637-662
    • Alexander, E.1
  • 93
    • 0022337185 scopus 로고
    • Peripheral inflammatory vascular disease in Sjögren's syndrome: Associations with nervous system complications
    • Molina R, Provost TT, Alexander EL. Peripheral inflammatory vascular disease in Sjögren's syndrome: associations with nervous system complications. Arthritis Rheum 1985; 28:1341-7.
    • (1985) Arthritis Rheum , vol.28 , pp. 1341-1347
    • Molina, R.1    Provost, T.T.2    Alexander, E.L.3
  • 94
    • 0031443398 scopus 로고    scopus 로고
    • Gherardi polyarteritis nodosa, microscopic polyangiitis, and Churg-Strauss syndrome: Clinical aspects, neurologic manifestations, and treatment
    • Younger DS, ed.
    • Guillevin L, Lhote FR. Gherardi polyarteritis nodosa, microscopic polyangiitis, and Churg-Strauss syndrome: clinical aspects, neurologic manifestations, and treatment. In: Younger DS, ed. Neurologic clinics. Vasculitis and the nervous system 1997;154:865-86.
    • (1997) Neurologic Clinics. Vasculitis and the Nervous System , vol.154 , pp. 865-886
    • Guillevin, L.1    Lhote, F.R.2
  • 95
    • 0024465713 scopus 로고
    • Hereditary retinal vasculopathy with cerebral white matter lesions
    • Gutmann DH, Fischbeck KH, Sergott RC. Hereditary retinal vasculopathy with cerebral white matter lesions. Am J Med Genet 1989;34:217-20.
    • (1989) Am J Med Genet , vol.34 , pp. 217-220
    • Gutmann, D.H.1    Fischbeck, K.H.2    Sergott, R.C.3
  • 96
    • 0031027561 scopus 로고    scopus 로고
    • Evidence for linkage of a candidate chromosome 1 region to human systemic lupus erythematosus
    • Tsao BP, Cantor RM, Kalunian KC, et al. Evidence for linkage of a candidate chromosome 1 region to human systemic lupus erythematosus. J Clin Invest 1997;99:725-31.
    • (1997) J Clin Invest , vol.99 , pp. 725-731
    • Tsao, B.P.1    Cantor, R.M.2    Kalunian, K.C.3
  • 98
    • 0030976227 scopus 로고    scopus 로고
    • Inflammatory myopathies and systemic disorders: A review of immunopathogenetic mechanisms and clinical features
    • Mantegazza R, Bernasconi P, Confalonieri P, et al. Inflammatory myopathies and systemic disorders: a review of immunopathogenetic mechanisms and clinical features. J Neurol 1997;244:277-87.
    • (1997) J Neurol , vol.244 , pp. 277-287
    • Mantegazza, R.1    Bernasconi, P.2    Confalonieri, P.3
  • 99
    • 0030872207 scopus 로고    scopus 로고
    • Idiopathic inflammatory myopathies
    • Amato AA, Barohn RJ. Idiopathic inflammatory myopathies. Neurol Clin 1997;15:615-18.
    • (1997) Neurol Clin , vol.15 , pp. 615-618
    • Amato, A.A.1    Barohn, R.J.2
  • 100
    • 0028150902 scopus 로고
    • Immune manifestations of inflammatory muscle disease
    • Targoff IN. Immune manifestations of inflammatory muscle disease. Rheum Dis Clin North Am 1994;20:857-80.
    • (1994) Rheum Dis Clin North Am , vol.20 , pp. 857-880
    • Targoff, I.N.1
  • 101
    • 0028064604 scopus 로고
    • Ovarian cancer in patients with dermatomyositis
    • Whitmore S, Rosenshein NB, Provost TT. Ovarian cancer in patients with dermatomyositis. Medicine 1994;73:153-60.
    • (1994) Medicine , vol.73 , pp. 153-160
    • Whitmore, S.1    Rosenshein, N.B.2    Provost, T.T.3
  • 102
    • 0008609698 scopus 로고
    • The porphyrias
    • Isselbacher KJ, Braunwald E, Wilson JD, et al, eds. New York: McGraw-Hill
    • Desnick R.J. The porphyrias. In: Isselbacher KJ, Braunwald E, Wilson JD, et al, eds. Harrison's principles of internal medicine. 13th ed. New York: McGraw-Hill, 1994;2073-9.
    • (1994) Harrison's Principles of Internal Medicine. 13th Ed. , pp. 2073-2079
    • Desnick, R.J.1
  • 103
    • 0000575066 scopus 로고
    • Vitamin deficiency and excess
    • Isselbacher KJ, Braunwald E, Wilson JD, et al, eds. New York: McGraw-Hill
    • Wilson JD. Vitamin deficiency and excess. In: Isselbacher KJ, Braunwald E, Wilson JD, et al, eds. Harrison's principles of internal medicine. 13th ed. New York: McGraw-Hill, 1994;472-80.
    • (1994) Harrison's Principles of Internal Medicine. 13th Ed. , pp. 472-480
    • Wilson, J.D.1
  • 104
    • 0015354306 scopus 로고
    • Massachusetts metabolic screening program. I. Technique and results of urine screening
    • Levy HL, Madigan PM, Shih VE. Massachusetts metabolic screening program. I. Technique and results of urine screening. Pediatrics 1972;49:825-36.
    • (1972) Pediatrics , vol.49 , pp. 825-836
    • Levy, H.L.1    Madigan, P.M.2    Shih, V.E.3
  • 105
    • 0029918665 scopus 로고    scopus 로고
    • Congenital non-progressive encephalopathy and deafness with intermittent episodes of coma and hyperkynureninuria
    • Cheminal R, Echenne B, Bellet H, et al. Congenital non-progressive encephalopathy and deafness with intermittent episodes of coma and hyperkynureninuria. J Inherit Metab Dis 1996;19:25-30.
    • (1996) J Inherit Metab Dis , vol.19 , pp. 25-30
    • Cheminal, R.1    Echenne, B.2    Bellet, H.3
  • 106
    • 0026329699 scopus 로고
    • The genetic basis of xeroderma pigmentosum
    • Bootsma D, Hoeijmakers JH. The genetic basis of xeroderma pigmentosum. Ann Gener 1991;34:143-50.
    • (1991) Ann Gener , vol.34 , pp. 143-150
    • Bootsma, D.1    Hoeijmakers, J.H.2
  • 107
    • 0000569209 scopus 로고
    • A syndrome resembling progeria: A review of two cases
    • Neill, CA, Dingwall MM. A syndrome resembling progeria: a review of two cases. Arch Dis Child 1950;25: 213-223.
    • (1950) Arch Dis Child , vol.25 , pp. 213-223
    • Neill, C.A.1    Dingwall, M.M.2
  • 108
    • 0017653212 scopus 로고
    • Cockayne syndrome: A cellular sensitivity to ultraviolet light
    • Aug
    • Schmickel RD, Chu EH, Trosko JE, et al. Cockayne syndrome: a cellular sensitivity to ultraviolet light. Pediatrics 1977 Aug;60:135-139.
    • (1977) Pediatrics , vol.60 , pp. 135-139
    • Schmickel, R.D.1    Chu, E.H.2    Trosko, J.E.3
  • 109
    • 0021334260 scopus 로고
    • The Tay syndrome (congenital ichthyosis with trichothiodystrophy)
    • Happle R, Traupe H, Grobe H, et al.. The Tay syndrome (congenital ichthyosis with trichothiodystrophy). Europ J Pediat 1984;141:147-152
    • (1984) Europ J Pediat , vol.141 , pp. 147-152
    • Happle, R.1    Traupe, H.2    Grobe, H.3
  • 110
    • 0031832573 scopus 로고    scopus 로고
    • Consequences of the delayed diagnosis of ataxiatelangiectasia
    • Cabana MD, Crawford TO, Winkelstein JA, et al. Consequences of the delayed diagnosis of ataxiatelangiectasia. Pediatrics 1998;102:98-100.
    • (1998) Pediatrics , vol.102 , pp. 98-100
    • Cabana, M.D.1    Crawford, T.O.2    Winkelstein, J.A.3
  • 111
    • 34548195258 scopus 로고
    • Skin cancer
    • Isselbacher KJ, Braunwald E, Wilson JD, et al, eds. New York: McGraw-Hill
    • AJ Sober, Koh HK. Skin cancer. In: Isselbacher KJ, Braunwald E, Wilson JD, et al, eds. Harrison's principles of internal medicine. 13th ed. New York: McGraw-Hill 1994;1866-7.
    • (1994) Harrison's Principles of Internal Medicine. 13th Ed. , pp. 1866-1867
    • Sober, A.J.1    Koh, H.K.2
  • 112
    • 0029883639 scopus 로고    scopus 로고
    • Two-locus linkage analysis of cutaneous malignant melanoma/ dysplastic nevi
    • Goldstein AM, Goldin LR, Dracopoli NC, er al. Two-locus linkage analysis of cutaneous malignant melanoma/ dysplastic nevi. Am J Hum Genet 1996;58:1050-6.
    • (1996) Am J Hum Genet , vol.58 , pp. 1050-1056
    • Goldstein, A.M.1    Goldin, L.R.2    Dracopoli, N.C.3
  • 113
    • 0028889667 scopus 로고
    • Familial cutaneous malignant melanoma and tumors of the nervous system
    • Azizi E, Friedman J, Pavlovsky F, et al. Familial cutaneous malignant melanoma and tumors of the nervous system. Cancer 1995;76:1571-8.
    • (1995) Cancer , vol.76 , pp. 1571-1578
    • Azizi, E.1    Friedman, J.2    Pavlovsky, F.3
  • 114
    • 0027490632 scopus 로고
    • A familial syndrome with cutaneous malignant melanoma and cerebral astrocytoma
    • Kaufman DK, Kimmel DW, Parisi JE, et al. A familial syndrome with cutaneous malignant melanoma and cerebral astrocytoma. Neurology 1993;43:1728-31.
    • (1993) Neurology , vol.43 , pp. 1728-1731
    • Kaufman, D.K.1    Kimmel, D.W.2    Parisi, J.E.3
  • 115
    • 76549183090 scopus 로고
    • Giant pigmented nevi, melanoma, and leptomeningeal melanocytosis: A clinical and histopathological study
    • Reed WB, Becker SW, Becker SW Jr, et al. Giant pigmented nevi, melanoma, and leptomeningeal melanocytosis: a clinical and histopathological study. Arch Dermatol 1965;91:100-19.
    • (1965) Arch Dermatol , vol.91 , pp. 100-119
    • Reed, W.B.1    Becker, S.W.2    Becker Jr., S.W.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.