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Volumn 255, Issue 3, 2008, Pages 456-458

Spinocerebellar ataxia type 7 presenting as Stargardt's disease

Author keywords

[No Author keywords available]

Indexed keywords

ATAXIN 7;

EID: 41149121188     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-007-0740-3     Document Type: Letter
Times cited : (2)

References (11)
  • 1
    • 0842345576 scopus 로고    scopus 로고
    • Michalik A, Martin JJ, Van Broeckhoven C (2004) Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy. Eur J Hum Genet 12:2-15
    • (2004) Eur J Hum Genet , vol.12 , pp. 2
    • Michalik1
  • 2
    • 2942750350 scopus 로고    scopus 로고
    • Stefkova J, Poledne R, Hubacek JA (2004) ATP-binding cassette (ABC) transporters in human metabolism and diseases. Physiol Res 53:235-243
    • (2004) Physiol Res , vol.53 , pp. 235
    • Stefkova1
  • 3
    • 0031712507 scopus 로고    scopus 로고
    • Stevanin G, Giunti P, Belal GD, Durr A, Ruberg M, Wood N, Brice A (1998) De novo expansion of intermediate alleles in spinocerebellar ataxia 7. Hum Mol Genet 7:1809-1813
    • (1998) Hum Mol Genet , vol.7 , pp. 1809
    • Stevanin1
  • 4
    • 0031963416 scopus 로고    scopus 로고
    • Johansson J, Forsgren L, Sandgren O, Brice A, Holmgren G, Holmberg M (1998) Expanded CAG repeats in Swedish spinocerebellar ataxia type 7 (SCA7) patients: effect of CAG repeat length on the clinical manifestation. Hum Mol Genet 7:171-176
    • (1998) Hum Mol Genet , vol.7 , pp. 171
    • Johansson1
  • 5
    • 0036353062 scopus 로고    scopus 로고
    • Aleman TS, Cideciyan AV, Volpe NJ, Stevanin G, Brice A, Jacobson SG (2002) Spinocerebellar ataxia type 7 (SCA7) shows a cone-rod dystrophy phenotype. Exp Eye Res 74:737-745
    • (2002) Exp Eye Res , vol.74 , pp. 737
    • Aleman1
  • 6
    • 0032781322 scopus 로고    scopus 로고
    • Kniazeva MF, Chiang MF, Cutting GR, Zack DJ, Han M, Zhang K (1999) Clinical and genetic studies of an autosomal dominant cone-rod dystrophy with features of Stargardt disease. Ophthalmic Genet 20:71-81
    • (1999) Ophthalmic Genet , vol.20 , pp. 71
    • Kniazeva1
  • 7
    • 18744404043 scopus 로고    scopus 로고
    • Paloma E, Coco R, Martinez-Mir A, Vilageliu L, Balcells S, Gonzalez-Duarte R (2002) Analysis of ABCA4 in mixed Spanish families segregating different retinal dystrophies. Hum Mutat 20:476
    • (2002) Hum Mutat , vol.20 , pp. 476
    • Paloma1
  • 8
    • 0031714729 scopus 로고    scopus 로고
    • Benton CS, de Silva R, Rutledge SL, Bohlega S, Ashizawa T, Zoghbi HY (1998) Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype. Neurology 51:1081-1086
    • (1998) Neurology , vol.51 , pp. 1081
    • Benton1
  • 9
    • 0034798064 scopus 로고    scopus 로고
    • van de Warrenburg BP, Frenken CW, Ausems MG, Kleefstra T, Sinke RJ, Knoers NV, Kremer HP (2001) Striking anticipation in spinocerebellar ataxia type 7: the infantile phenotype. J Neurol 248:911-914
    • (2001) J Neurol , vol.248 , pp. 911
    • De Warrenburg, V.1
  • 10
    • 0028304397 scopus 로고
    • Enevoldson TP, Sanders MD, Harding AE (1994) Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy. A clinical and genetic study of eight families. Brain 117:445-460
    • (1994) Brain , vol.117 , pp. 445
    • Enevoldson1
  • 11
    • 0032819569 scopus 로고    scopus 로고
    • Martin J, Van Regemorter N, Del-Favero J, Lofgren A, Van Broeckhoven C (1999) Spinocerebellar ataxia type 7 (SCA7) - correlations between phenotype and genotype in one large Belgian family. J Neurol Sci 168:37-46
    • (1999) J Neurol Sci , vol.168 , pp. 37
    • Martin1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.