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Volumn 36, Issue 6, 2007, Pages 411-413

A Novel Mutation of the CLN8 Gene: Is There a Mediterranean Phenotype?

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMIC ACID; GLUTAMINE; VALPROIC ACID;

EID: 34249877686     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2007.01.008     Document Type: Article
Times cited : (20)

References (12)
  • 1
    • 0028879016 scopus 로고
    • The neuronal ceroid lipofuscinoses
    • Goebel H.H. The neuronal ceroid lipofuscinoses. J Child Neurol 10 (1995) 424-437
    • (1995) J Child Neurol , vol.10 , pp. 424-437
    • Goebel, H.H.1
  • 2
    • 0035684428 scopus 로고    scopus 로고
    • Neurodegenerative disease: the neuronal ceroid lipofuscinoses (Batten disease)
    • Mitchison H.M., and Mole S.E. Neurodegenerative disease: the neuronal ceroid lipofuscinoses (Batten disease). Curr Opin Neurol 14 (2001) 795-803
    • (2001) Curr Opin Neurol , vol.14 , pp. 795-803
    • Mitchison, H.M.1    Mole, S.E.2
  • 3
    • 0036837655 scopus 로고    scopus 로고
    • Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations
    • Steinfeld R., Heim P., von Gregory H., et al. Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations. Am J Med Genet 112 (2002) 347-354
    • (2002) Am J Med Genet , vol.112 , pp. 347-354
    • Steinfeld, R.1    Heim, P.2    von Gregory, H.3
  • 4
    • 25844517550 scopus 로고    scopus 로고
    • Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses
    • Mole S.E., Williams R.E., and Goebel H.H. Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. Neurogenetics 6 (2005) 107-126
    • (2005) Neurogenetics , vol.6 , pp. 107-126
    • Mole, S.E.1    Williams, R.E.2    Goebel, H.H.3
  • 5
    • 0036155235 scopus 로고    scopus 로고
    • Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse
    • Gao H., Boustany R.M., Espinola J.A., et al. Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. Am J Hum Genet 70 (2002) 324-335
    • (2002) Am J Hum Genet , vol.70 , pp. 324-335
    • Gao, H.1    Boustany, R.M.2    Espinola, J.A.3
  • 6
    • 0034912414 scopus 로고    scopus 로고
    • Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8
    • Mitchell W.A., Wheeler R.B., Sharp J.D., et al. Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8. Eur J Paediatr Neurol 5 Suppl A (2001) 21-27
    • (2001) Eur J Paediatr Neurol , vol.5 , Issue.SUPPL. A , pp. 21-27
    • Mitchell, W.A.1    Wheeler, R.B.2    Sharp, J.D.3
  • 7
    • 0032831071 scopus 로고    scopus 로고
    • The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8
    • Ranta S., Zhang Y., Ross B., et al. The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. Nat Genet 23 (1999) 233-236
    • (1999) Nat Genet , vol.23 , pp. 233-236
    • Ranta, S.1    Zhang, Y.2    Ross, B.3
  • 9
    • 11144353883 scopus 로고    scopus 로고
    • Variant late infantile ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy
    • Ranta S., Topçu M., Tegelberg S., et al. Variant late infantile ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy. Hum Mutat 23 (2004) 300-305
    • (2004) Hum Mutat , vol.23 , pp. 300-305
    • Ranta, S.1    Topçu, M.2    Tegelberg, S.3
  • 10
    • 33646396485 scopus 로고    scopus 로고
    • Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: another genetic hit in the Mediterranean
    • Cannelli N., Cassandrini D., Bertini E., et al. Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: another genetic hit in the Mediterranean. Neurogenetics 7 (2006) 111-117
    • (2006) Neurogenetics , vol.7 , pp. 111-117
    • Cannelli, N.1    Cassandrini, D.2    Bertini, E.3
  • 11
    • 0035221981 scopus 로고    scopus 로고
    • Studies of homogenous populations: CLN5 and CLN8
    • Ranta S., Savukoski M., Santavuori P., and Haltia M. Studies of homogenous populations: CLN5 and CLN8. Adv Genet 45 (2001) 123-140
    • (2001) Adv Genet , vol.45 , pp. 123-140
    • Ranta, S.1    Savukoski, M.2    Santavuori, P.3    Haltia, M.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.