메뉴 건너뛰기




Volumn 19, Issue 12, 2009, Pages 849-852

Myelin protein zero Val102fs mutation manifesting with isolated spinal root hypertrophy

Author keywords

Charcot Marie Tooth type 1B; Myelin protein zero; Spinal root hypertrophy

Indexed keywords

CHROMOSOME PROTEIN; MYELIN PROTEIN ZERO; UNCLASSIFIED DRUG;

EID: 70449523689     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2009.09.004     Document Type: Article
Times cited : (8)

References (14)
  • 2
    • 10444238194 scopus 로고    scopus 로고
    • Segmental conduction abnormalities and myelin thickenings in Val102/fs null mutation of MPZ gene
    • De Angelis M.V., Di Muzio A., Capasso M., Angiari C., Cavallaro T., Fabrizi G.M., et al. Segmental conduction abnormalities and myelin thickenings in Val102/fs null mutation of MPZ gene. Neurology 63 11 (2004) 2180-2183
    • (2004) Neurology , vol.63 , Issue.11 , pp. 2180-2183
    • De Angelis, M.V.1    Di Muzio, A.2    Capasso, M.3    Angiari, C.4    Cavallaro, T.5    Fabrizi, G.M.6
  • 3
    • 45749132610 scopus 로고    scopus 로고
    • Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations
    • Grandis M., Vigo T., Passalacqua M., Jain M., Scazzola S., La Padula V., et al. Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations. Hum Mol Genet 17 13 (2008) 1877-1889
    • (2008) Hum Mol Genet , vol.17 , Issue.13 , pp. 1877-1889
    • Grandis, M.1    Vigo, T.2    Passalacqua, M.3    Jain, M.4    Scazzola, S.5    La Padula, V.6
  • 4
    • 0033554304 scopus 로고    scopus 로고
    • Heterozygous null mutation in the P0 gene associated with mild Charcot-Marie-Tooth disease
    • Pareyson D., Menichella D., Botti S., Sghirlanzoni A., Fallica E., Mora M., et al. Heterozygous null mutation in the P0 gene associated with mild Charcot-Marie-Tooth disease. Ann NY Acad Sci 883 (1999) 477-480
    • (1999) Ann NY Acad Sci , vol.883 , pp. 477-480
    • Pareyson, D.1    Menichella, D.2    Botti, S.3    Sghirlanzoni, A.4    Fallica, E.5    Mora, M.6
  • 6
    • 0024439779 scopus 로고
    • Compression syndromes due to hypertrophic nerve roots in hereditary motor sensory neuropathy type I
    • Rosen S.A., Wang H., Cornblath D.R., Uematsu E., and Hurko O. Compression syndromes due to hypertrophic nerve roots in hereditary motor sensory neuropathy type I. Neurology 39 9 (1989) 1173-1177
    • (1989) Neurology , vol.39 , Issue.9 , pp. 1173-1177
    • Rosen, S.A.1    Wang, H.2    Cornblath, D.R.3    Uematsu, E.4    Hurko, O.5
  • 7
    • 0028122438 scopus 로고
    • Hypertrophic Charcot-Marie-Tooth disease: MR imaging findings
    • Friedman D.P., Flanders A.E., and Tartaglino L.M. Hypertrophic Charcot-Marie-Tooth disease: MR imaging findings. AJR Am J Roentgenol 163 3 (1994) 749-750
    • (1994) AJR Am J Roentgenol , vol.163 , Issue.3 , pp. 749-750
    • Friedman, D.P.1    Flanders, A.E.2    Tartaglino, L.M.3
  • 8
    • 0032079855 scopus 로고    scopus 로고
    • Hypertrophied cauda equina presenting as intradural mass; case report and review of literature
    • Hahn M., Hirschfeld A., and Sander H. Hypertrophied cauda equina presenting as intradural mass; case report and review of literature. Surg Neurol 49 5 (1998) 514-518
    • (1998) Surg Neurol , vol.49 , Issue.5 , pp. 514-518
    • Hahn, M.1    Hirschfeld, A.2    Sander, H.3
  • 9
    • 1542316170 scopus 로고    scopus 로고
    • Nerve hypertrophy in CMT type 1A
    • Liao J.P., and Waclawik A.J. Nerve hypertrophy in CMT type 1A. Neurology 62 5 (2004) 783
    • (2004) Neurology , vol.62 , Issue.5 , pp. 783
    • Liao, J.P.1    Waclawik, A.J.2
  • 10
    • 0038813880 scopus 로고    scopus 로고
    • Does CMT1A homozygosity cause more severe disease with root hypertrophy and higher CSF proteins?
    • Pareyson D., Testa D., Morbin M., Erbetta A., Ciano C., Lauria G., et al. Does CMT1A homozygosity cause more severe disease with root hypertrophy and higher CSF proteins?. Neurology 60 10 (2003) 1721-1722
    • (2003) Neurology , vol.60 , Issue.10 , pp. 1721-1722
    • Pareyson, D.1    Testa, D.2    Morbin, M.3    Erbetta, A.4    Ciano, C.5    Lauria, G.6
  • 11
    • 0036037752 scopus 로고    scopus 로고
    • Dejerine-Sottas neuropathy with multiple nerve roots enlargement and hypomyelination associated with a missense mutation of the transmembrane domain of MPZ/P0
    • Simonati A., Fabrizi G.M., Taioli F., Polo A., Cerini R., and Rizzuto N. Dejerine-Sottas neuropathy with multiple nerve roots enlargement and hypomyelination associated with a missense mutation of the transmembrane domain of MPZ/P0. J Neurol 249 9 (2002) 1298-1302
    • (2002) J Neurol , vol.249 , Issue.9 , pp. 1298-1302
    • Simonati, A.1    Fabrizi, G.M.2    Taioli, F.3    Polo, A.4    Cerini, R.5    Rizzuto, N.6
  • 12
    • 0037317267 scopus 로고    scopus 로고
    • Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) with hypertrophic spinal radiculopathy mimicking neurofibromatosis
    • Pytel P., Rezania K., Soliven B., Frank J., and Wollmann R. Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) with hypertrophic spinal radiculopathy mimicking neurofibromatosis. Acta Neuropathol 105 2 (2003) 185-188
    • (2003) Acta Neuropathol , vol.105 , Issue.2 , pp. 185-188
    • Pytel, P.1    Rezania, K.2    Soliven, B.3    Frank, J.4    Wollmann, R.5
  • 13
    • 0031839677 scopus 로고    scopus 로고
    • Chronic inflammatory demyelinating polyradiculoneuropathy with diffuse and massive peripheral nerve hypertrophy: distinctive clinical and magnetic resonance imaging features
    • Mizuno K., Nagamatsu M., Hattori N., Yamamoto M., Goto H., Kuniyoshi K., et al. Chronic inflammatory demyelinating polyradiculoneuropathy with diffuse and massive peripheral nerve hypertrophy: distinctive clinical and magnetic resonance imaging features. Muscle Nerve 21 6 (1998) 805-808
    • (1998) Muscle Nerve , vol.21 , Issue.6 , pp. 805-808
    • Mizuno, K.1    Nagamatsu, M.2    Hattori, N.3    Yamamoto, M.4    Goto, H.5    Kuniyoshi, K.6
  • 14
    • 67649482429 scopus 로고    scopus 로고
    • Teaching neuroimages: chronic inflammatory demyelinating polyradiculoneuropathy causing spinal cord compression
    • Echaniz-Laguna A., and Philippi N. Teaching neuroimages: chronic inflammatory demyelinating polyradiculoneuropathy causing spinal cord compression. Neurology 72 24 (2009) e121
    • (2009) Neurology , vol.72 , Issue.24
    • Echaniz-Laguna, A.1    Philippi, N.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.