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Volumn 80, Issue 4, 2009, Pages 449-450

Definite multiple system atrophy in a german family

Author keywords

[No Author keywords available]

Indexed keywords

AUTOPSY; BASAL GANGLION; BRAIN STEM; CEREBELLUM ATROPHY; CORPUS CALLOSUM; CORPUS STRIATUM; DEPIGMENTATION; EXON; GENE DOSAGE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GLIOSIS; GLOBUS PALLIDUS; IMMUNOHISTOCHEMISTRY; LETTER; PATHOLOGY; PEDIGREE; PHENOTYPE; PONS ANGLE; PRIORITY JOURNAL; PUTAMEN; SHY DRAGER SYNDROME; SPINAL CORD; SUBSTANTIA NIGRA; WHITE MATTER; AGED; CASE REPORT; CEREBELLUM; GENETICS; GERMANY; GLIA; HUMAN;

EID: 64749083242     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2008.158949     Document Type: Letter
Times cited : (55)

References (11)
  • 1
    • 0033970498 scopus 로고    scopus 로고
    • Eye muscle sparing by the muscular dystrophies: Lessons to be learned?
    • Andrade FH, Porter JD, Kaminski HJ. Eye muscle sparing by the muscular dystrophies: lessons to be learned? Microsc Res Tech 2000;48:192- 203.
    • (2000) Microsc Res Tech , vol.48 , pp. 192-203
    • Andrade, F.H.1    Porter, J.D.2    Kaminski, H.J.3
  • 2
    • 0344255715 scopus 로고    scopus 로고
    • Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease
    • Kubisch C, Schoser BG, von Düring M, et al. Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease. Ann Neurol 2003;53:512-20.
    • (2003) Ann Neurol , vol.53 , pp. 512-520
    • Kubisch, C.1    Schoser, B.G.2    von Düring, M.3
  • 3
    • 0038661155 scopus 로고    scopus 로고
    • Constitutive properties, not molecular adaptations, mediate extraocular muscle sparing in dystrophic mdx mice
    • Porter JD, Merriam AP, Khanna S. Constitutive properties, not molecular adaptations, mediate extraocular muscle sparing in dystrophic mdx mice. FASEB J 2003;17:893-95.
    • (2003) FASEB J , vol.17 , pp. 893-895
    • Porter, J.D.1    Merriam, A.P.2    Khanna, S.3
  • 4
    • 0030728962 scopus 로고    scopus 로고
    • Oculopharyngeal muscular dystrophy, other ocular myopathies, and progressive external ophthalmoplegia
    • Rowland LP, Hirano M, DiMauro S, et al. Oculopharyngeal muscular dystrophy, other ocular myopathies, and progressive external ophthalmoplegia. Neuromusc Disord 1997;7(suppl 1):S15-21.
    • (1997) Neuromusc Disord , vol.7 , Issue.SUPPL. 1
    • Rowland, L.P.1    Hirano, M.2    DiMauro, S.3
  • 5
    • 0031058836 scopus 로고    scopus 로고
    • Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles
    • Engle EC, Goumnerov BC, McKeown CA, et al. Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles. Ann Neurol 1997;41:314-25.
    • (1997) Ann Neurol , vol.41 , pp. 314-325
    • Engle, E.C.1    Goumnerov, B.C.2    McKeown, C.A.3
  • 6
    • 34249714899 scopus 로고    scopus 로고
    • Eyelid ptosis from sympathetic nerve dysfunction mistaken as myopathy: A simple test to identify this condition
    • Tomelleri G, Vattemi G, Filosto M, et al. Eyelid ptosis from sympathetic nerve dysfunction mistaken as myopathy: a simple test to identify this condition. J Neurol Neurosurg Psychiatry 2007;78:632-34.
    • (2007) J Neurol Neurosurg Psychiatry , vol.78 , pp. 632-634
    • Tomelleri, G.1    Vattemi, G.2    Filosto, M.3
  • 7
    • 33747163630 scopus 로고    scopus 로고
    • Caveolae and calcium handling, a review and a hypothesis
    • Daniel EE, El-Yazbi A, Cho WJ. Caveolae and calcium handling, a review and a hypothesis. J Cell Mol Med 2006;10:529-44.
    • (2006) J Cell Mol Med , vol.10 , pp. 529-544
    • Daniel, E.E.1    El-Yazbi, A.2    Cho, W.J.3
  • 8
    • 44449121951 scopus 로고    scopus 로고
    • Caveolin regulates endocytosis of the muscle repair protein, dysferlin
    • Hernández-Deviez DJ, Howes MT, Laval SH, et al. Caveolin regulates endocytosis of the muscle repair protein, dysferlin. J Biol Chem 2008;283:6476-88.
    • (2008) J Biol Chem , vol.283 , pp. 6476-6488
    • Hernández-Deviez, D.J.1    Howes, M.T.2    Laval, S.H.3
  • 10
    • 34250372441 scopus 로고    scopus 로고
    • Novel homozygous mutation of the caveolin-3 gene in rippling muscle disease with extraocular muscle paresis
    • Ueyama H, Horinouchi H, Obayashi K, et al. Novel homozygous mutation of the caveolin-3 gene in rippling muscle disease with extraocular muscle paresis. Neuromusc Disord 2007;17:558-61.
    • (2007) Neuromusc Disord , vol.17 , pp. 558-561
    • Ueyama, H.1    Horinouchi, H.2    Obayashi, K.3
  • 11
    • 0028858134 scopus 로고
    • Intermittent esotropia associated with rippling muscle disease
    • Kosmorsky GS, Mehta N, Mitsumoto H, et al. Intermittent esotropia associated with rippling muscle disease. J Neuroopthalmol 1995;15:147-51.
    • (1995) J Neuroopthalmol , vol.15 , pp. 147-151
    • Kosmorsky, G.S.1    Mehta, N.2    Mitsumoto, H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.