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Volumn 111, Issue 1, 2009, Pages 109-110

Beta-mannosidosis: A new cause of spinocerebellar ataxia

Author keywords

Beta mannosidase; Beta mannosidosis; MRI; Spinocerebellar ataxia

Indexed keywords

BETA MANNOSIDASE;

EID: 57549106971     PISSN: 03038467     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clineuro.2008.09.007     Document Type: Article
Times cited : (21)

References (10)
  • 1
    • 0036924461 scopus 로고    scopus 로고
    • Variable clinical presentation of lysosomal beta-mannosidosis in patients with null mutations
    • Bedilu R., Nummy K.A., Cooper A., Wevers R., Smeitink J., Kleijer W.J., et al. Variable clinical presentation of lysosomal beta-mannosidosis in patients with null mutations. Mol Genet Metab 77 (2002) 282-290
    • (2002) Mol Genet Metab , vol.77 , pp. 282-290
    • Bedilu, R.1    Nummy, K.A.2    Cooper, A.3    Wevers, R.4    Smeitink, J.5    Kleijer, W.J.6
  • 2
    • 0031975110 scopus 로고    scopus 로고
    • Human β-mannosidase cDNA characterization and first identification of a mutation associated with human β-mannosidosis
    • Alkhayat A.H., Kraemer S.A., Leipprandt J.R., Macek M., Kleijer W.J., and Friderici K.H. Human β-mannosidase cDNA characterization and first identification of a mutation associated with human β-mannosidosis. Hum Mol Genet 7 (1998) 75-83
    • (1998) Hum Mol Genet , vol.7 , pp. 75-83
    • Alkhayat, A.H.1    Kraemer, S.A.2    Leipprandt, J.R.3    Macek, M.4    Kleijer, W.J.5    Friderici, K.H.6
  • 3
    • 30344446632 scopus 로고    scopus 로고
    • Atypical Gilles de la Tourette Syndrome with beta-mannosidase deficiency
    • Sedel F., Friderici K., Nummy K., Caillaud C., Chabli A., Dürr A., et al. Atypical Gilles de la Tourette Syndrome with beta-mannosidase deficiency. Arch Neurol 63 (2006) 129-131
    • (2006) Arch Neurol , vol.63 , pp. 129-131
    • Sedel, F.1    Friderici, K.2    Nummy, K.3    Caillaud, C.4    Chabli, A.5    Dürr, A.6
  • 4
    • 33750727424 scopus 로고    scopus 로고
    • Molecular analysis in two beta-mannosidosis patients: description of a new adult case
    • Gort L., Duque J., Fabeiro J.M., Zulaica A., Coll M.J., and Chabas A. Molecular analysis in two beta-mannosidosis patients: description of a new adult case. Mol Genet Metab 89 (2006) 398-400
    • (2006) Mol Genet Metab , vol.89 , pp. 398-400
    • Gort, L.1    Duque, J.2    Fabeiro, J.M.3    Zulaica, A.4    Coll, M.J.5    Chabas, A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.