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Volumn 8, Issue 11, 2014, Pages PD03-PD04

Infantile onset Alexander disease with normal head circumference: A genetically proven case report

Author keywords

Leukodystrophy; Macrocephaly; Psychomotor regression

Indexed keywords

GLIAL FIBRILLARY ACIDIC PROTEIN;

EID: 84924911925     PISSN: 2249782X     EISSN: 0973709X     Source Type: Journal    
DOI: 10.7860/JCDR/2014/10211.5200     Document Type: Article
Times cited : (9)

References (11)
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    • Caroli, F.1    Biancheri, R.2    Seri, M.3    Rossi, A.4    Pessagno, A.5    Bugiani, M.6
  • 2
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    • The clinicopathological spectrum of Rosenthal fibre encephalopathy and Alexander's disease: A case report and review of the literature
    • Jacob J, Robertson NJ, Hilton DA. The clinicopathological spectrum of Rosenthal fibre encephalopathy and Alexander's disease: a case report and review of the literature. J Neurol Neurosurg Psychiatry. 2003;74:807-10.
    • (2003) J Neurol Neurosurg Psychiatry , vol.74 , pp. 807-810
    • Jacob, J.1    Robertson, N.J.2    Hilton, D.A.3
  • 4
    • 20044372525 scopus 로고    scopus 로고
    • Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease
    • Li R, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, et al. Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease. Ann Neurol. 2005;57:310–26.
    • (2005) Ann Neurol , vol.57 , pp. 310-326
    • Li, R.1    Johnson, A.B.2    Salomons, G.3    Goldman, J.E.4    Naidu, S.5    Quinlan, R.6
  • 5
    • 84871355371 scopus 로고    scopus 로고
    • In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews [Internet] Seattle (WA): University of Washington, Seattle, Nov 15, [Updated 2010 Apr 22]. Available from
    • Gorospe JR. Alexander Disease. In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews™ [Internet] Seattle (WA): University of Washington, Seattle; 2002. Nov 15, [Updated 2010 Apr 22]. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1172.
    • (2002) Alexander Disease
    • Gorospe, J.R.1
  • 7
    • 84881061151 scopus 로고    scopus 로고
    • Alexander Disease: Report of Two Unrelated Infantile Form Cases, Identified by GFAP Mutation Analysis andReview of Literature; The First Report from Iran
    • Ashrafi MR, Tavasoli A, Aryani O, Alizadeh H, Houshmand M. Alexander Disease: Report of Two Unrelated Infantile Form Cases, Identified by GFAP Mutation Analysis andReview of Literature; The First Report from Iran. Iran J Pediatr. 2013;23:481-84.
    • (2013) Iran J Pediatr , vol.23 , pp. 481-484
    • Ashrafi, M.R.1    Tavasoli, A.2    Aryani, O.3    Alizadeh, H.4    Houshmand, M.5
  • 8
    • 0037188379 scopus 로고    scopus 로고
    • Molecular findings in symptomatic and pre-symptomatic Alexander disease patients
    • Gorospe JR., Naidu S, Johnson AB, Puri V, Raymond GV, Jenkins SD, et al. Molecular findings in symptomatic and pre-symptomatic Alexander disease patients. Neurology. 2002;58:1494-500.
    • (2002) Neurology , vol.58 , pp. 1494-1500
    • Gorospe, J.R.1    Naidu, S.2    Johnson, A.B.3    Puri, V.4    Raymond, G.V.5    Jenkins, S.D.6
  • 10
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    • Infantile Alexander Disease: Spectrum of GFAP Mutations and Genotype-phenotype correlation
    • Rodriguez D. Infantile Alexander Disease: Spectrum of GFAP Mutations and Genotype-phenotype correlation. Am J. Hum Genet. 2001;69:1134-40.
    • (2001) Am J. Hum Genet , vol.69 , pp. 1134-1140
    • Rodriguez, D.1
  • 11
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    • Diagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorder
    • Nishri D, Edvardson S, Lev D, Leshinsky-Silver E, Ben-Sira L, Henneke M, et al. Diagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorder. Eur J Paediatr Neurol. 2014; 18:495-501.
    • (2014) Eur J Paediatr Neurol , vol.18 , pp. 495-501
    • Nishri, D.1    Edvardson, S.2    Lev, D.3    Leshinsky-Silver, E.4    Ben-Sira, L.5    Henneke, M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.