메뉴 건너뛰기




Volumn , Issue , 2008, Pages 43-51

An update on the Hardie neuroacanthocytosis series

Author keywords

[No Author keywords available]

Indexed keywords


EID: 79954548313     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-3-540-71693-8_3     Document Type: Chapter
Times cited : (10)

References (18)
  • 1
    • 0001216951 scopus 로고
    • A new phenotype (McLeod) in the Kell bloodgroup system
    • Allen FH Jr, Krabbe SM, Corcoran PA (1961) A new phenotype (McLeod) in the Kell bloodgroup system. Vox Sang 6:555-560
    • (1961) Vox Sang , vol.6 , pp. 555-560
    • Allen, F.H.1    Krabbe, S.M.2    Corcoran, P.A.3
  • 2
    • 0001327424 scopus 로고
    • Malformation of the erythrocytes in a case of atypical retinitis pigmentosa
    • Bassen FA, Kornzweig AL (1950) Malformation of the erythrocytes in a case of atypical retinitis pigmentosa. Blood 5:381-387
    • (1950) Blood , vol.5 , pp. 381-387
    • Bassen, F.A.1    Kornzweig, A.L.2
  • 3
    • 0037062571 scopus 로고    scopus 로고
    • HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration
    • Ching KH, Westaway SK, Gitschier J Higgins JJ, Hayflick SJ (2002) HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration. J Neurol 58:1673-1674
    • (2002) J Neurol , vol.58 , pp. 1673-1674
    • Ching, K.H.1    Westaway, S.K.2    Gitschier, J.3    Higgins, J.J.4    Hayflick, S.J.5
  • 4
    • 0014247784 scopus 로고
    • Acanthocytosis and neurological disorder without betalipoproteinemia
    • Critchley EM, Clark DB, Wikler A (1968) Acanthocytosis and neurological disorder without betalipoproteinemia. Arch Neurol 18:134-140
    • (1968) Arch Neurol , vol.18 , pp. 134-140
    • Critchley, E.M.1    Clark, D.B.2    Wikler, A.3
  • 8
    • 0028263898 scopus 로고
    • Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein
    • Ho M, Chelly J, Carter N, Danek A, Crocker P, Monaco AP (1994) Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein. Cell 77:869-880
    • (1994) Cell , vol.77 , pp. 869-880
    • Ho, M.1    Chelly, J.2    Carter, N.3    Danek, A.4    Crocker, P.5    Monaco, A.P.6
  • 9
    • 0029928980 scopus 로고    scopus 로고
    • A novel point mutation in the McLeod syndrome gene in neuroacanthocytosis
    • Ho MF, Chalmers RM, Davis MB, Harding AE, Monaco AP (1996) A novel point mutation in the McLeod syndrome gene in neuroacanthocytosis. Ann Neurol 39:672-675
    • (1996) Ann Neurol , vol.39 , pp. 672-675
    • Ho, M.F.1    Chalmers, R.M.2    Davis, M.B.3    Harding, A.E.4    Monaco, A.P.5
  • 10
    • 0344011470 scopus 로고    scopus 로고
    • Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic
    • Houlden H, Lincoln S, Farrer M, Cleland PG, Hardy J, Orrell RW (2003) Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic. Neurology 61:1423-1426
    • (2003) Neurology , vol.61 , pp. 1423-1426
    • Houlden, H.1    Lincoln, S.2    Farrer, M.3    Cleland, P.G.4    Hardy, J.5    Orrell, R.W.6
  • 11
    • 0030022465 scopus 로고    scopus 로고
    • The pattern of cognitive impairments in neuroacanthocytosis. A frontosubcortical dementia
    • Kartsounis LD, Hardie RJ (1996) The pattern of cognitive impairments in neuroacanthocytosis. A frontosubcortical dementia. Arch Neurol 53:77-80
    • (1996) Arch Neurol , vol.53 , pp. 77-80
    • Kartsounis, L.D.1    Hardie, R.J.2
  • 12
    • 0029074422 scopus 로고
    • Acanthocytosis, retinitis pigmentosa, and pallidal degeneration: A report of three patients, including the second reported case with hypoprebetalipoproteinemia (HARP syndrome)
    • Orrell RW, Amrolia PJ, Heald A, Cleland PG, Owen JS, Morgan-Hughes JA, Harding AE, Marsden CD (1995) Acanthocytosis, retinitis pigmentosa, and pallidal degeneration: a report of three patients, including the second reported case with hypoprebetalipoproteinemia (HARP syndrome). Neurology 45:487-492
    • (1995) Neurology , vol.45 , pp. 487-492
    • Orrell, R.W.1    Amrolia, P.J.2    Heald, A.3    Cleland, P.G.4    Owen, J.S.5    Morgan-Hughes, J.A.6    Harding, A.E.7    Marsden, C.D.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.