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Volumn 11, Issue 4, 2010, Pages 457-464

Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31

Author keywords

Ataxia; Hypomyelination; Leukodystrophy; Linkage; Tremor; White matter disease

Indexed keywords

ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE INHERITANCE; CEREBELLUM DISEASE; CHILD; CHROMOSOME 10Q; CLINICAL ARTICLE; COGNITION; FEMALE; GENE MAPPING; GENETIC ASSOCIATION; GENETIC COUNSELING; HOMOZYGOSITY; HUMAN; LEUKODYSTROPHY; LINKAGE ANALYSIS; MALE; MARKER GENE; MUTATION; MUTATIONAL ANALYSIS; MYELIN DEFICIENCY; PRESCHOOL CHILD; PRIORITY JOURNAL; SPASTICITY; TREMOR; WHITE MATTER;

EID: 78650037378     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-010-0251-8     Document Type: Article
Times cited : (37)

References (30)
  • 2
    • 0035163913 scopus 로고    scopus 로고
    • Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease
    • DOI 10.1038/83679
    • Brenner M, Johnson AB, Boespflug-Tanguy O, Rodriguez D, Goldman JE, Messing A (2001) Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. Nat Genet 27:117-120 (Pubitemid 32044531)
    • (2001) Nature Genetics , vol.27 , Issue.1 , pp. 117-120
    • Brenner, M.1    Johnson, A.B.2    Boespflug-Tanguy, O.3    Rodriguez, D.4    Goldman, J.E.5    Messing, A.6
  • 3
    • 0028209183 scopus 로고
    • Regional mapping of the human galactocerebrosidase gene (GALC) to 14q31 by in situ hybridization
    • Cannizzaro LA, Chen YQ, Rafi MA, Wenger DA (1994) Regional mapping of the human galactocerebrosidase gene (GALC) to 14q31 by in situ hybridization. Cytogenet Cell Genet 66:244-245
    • (1994) Cytogenet Cell Genet , vol.66 , pp. 244-245
    • Cannizzaro, L.A.1    Chen, Y.Q.2    Rafi, M.A.3    Wenger, D.A.4
  • 5
    • 0029656306 scopus 로고    scopus 로고
    • Analysis of a splice-site mutation in the sap-precursor gene of a patient with metachromatic leukodystrophy
    • Henseler M, Klein A, Reber M, Vanier MT, Landrieu P, Sandhoff K (1996) Analysis of a splice-site mutation in the sap-precursor gene of a patient with metachromatic leukodystrophy. Am J Hum Genet 58:65-74
    • (1996) Am J Hum Genet , vol.58 , pp. 65-74
    • Henseler, M.1    Klein, A.2    Reber, M.3    Vanier, M.T.4    Landrieu, P.5    Sandhoff, K.6
  • 6
    • 15444363703 scopus 로고    scopus 로고
    • PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2
    • Inoue K (2005) PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Neurogenetics 6:1-16
    • (2005) Neurogenetics , vol.6 , pp. 1-16
    • Inoue, K.1
  • 7
    • 0027362434 scopus 로고
    • Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease
    • Kaul R, Gao GP, Balamurugan K, Matalon R (1993) Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease. Nat Genet 5:118-123
    • (1993) Nat Genet , vol.5 , pp. 118-123
    • Kaul, R.1    Gao, G.P.2    Balamurugan, K.3    Matalon, R.4
  • 10
  • 13
    • 0035741831 scopus 로고    scopus 로고
    • Multipoint estimation of identity-by-descent probabilities at arbitrary positions among marker loci on general pedigrees
    • Sobel E, Sengul H, Weeks DE (2001) Multipoint estimation of identity-by-descent probabilities at arbitrary positions among marker loci on general pedigrees. Hum Hered 52:121-131
    • (2001) Hum Hered , vol.52 , pp. 121-131
    • Sobel, E.1    Sengul, H.2    Weeks, D.E.3
  • 18
    • 0024435444 scopus 로고
    • Activator protein deficient Gaucher's disease. A second patient with the newly identified lipid storage disorder
    • Christomanou H, Chabas A, Pampols T, Guardiola A (1989) Activator protein deficient Gaucher's disease. A second patient with the newly identified lipid storage disorder. Klin Wochenschr 67:999-1003
    • (1989) Klin Wochenschr , vol.67 , pp. 999-1003
    • Christomanou, H.1    Chabas, A.2    Pampols, T.3    Guardiola, A.4
  • 19
    • 0024420051 scopus 로고
    • Sphingolipid activator protein deficiency in a 16-week-old atypical Gaucher disease patient and his fetal sibling: Biochemical signs of combined sphingolipidoses
    • Harzer K, Paton BC, Poulos A, Kustermann-Kuhn B, Roggendorf W, Grisar T, Popp M (1989) Sphingolipid activator protein deficiency in a 16-week-old atypical Gaucher disease patient and his fetal sibling: biochemical signs of combined sphingolipidoses. Eur J Pediatr 149:31-39
    • (1989) Eur J Pediatr , vol.149 , pp. 31-39
    • Harzer, K.1    Paton, B.C.2    Poulos, A.3    Kustermann-Kuhn, B.4    Roggendorf, W.5    Grisar, T.6    Popp, M.7
  • 21
    • 0026705846 scopus 로고
    • Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene
    • Schnabel D, Schroder M, Furst W, Klein A, Hurwitz R, Zenk T, Weber J, Harzer K, Paton BC, Poulos A (1992) Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene. J Biol Chem 267:3312-3315
    • (1992) J Biol Chem , vol.267 , pp. 3312-3315
    • Schnabel, D.1    Schroder, M.2    Furst, W.3    Klein, A.4    Hurwitz, R.5    Zenk, T.6    Weber, J.7    Harzer, K.8    Paton, B.C.9    Poulos, A.10
  • 22
    • 12844280581 scopus 로고    scopus 로고
    • A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: First report of saposin A deficiency in humans
    • Spiegel R, Bach G, Sury V, Mengistu G, Meidan B, Shalev S, Shneor Y, Mandel H, Zeigler M (2005) A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans. Mol Genet Metab 84:160-166
    • (2005) Mol Genet Metab , vol.84 , pp. 160-166
    • Spiegel, R.1    Bach, G.2    Sury, V.3    Mengistu, G.4    Meidan, B.5    Shalev, S.6    Shneor, Y.7    Mandel, H.8    Zeigler, M.9
  • 23
    • 62349126641 scopus 로고    scopus 로고
    • Invited article: An MRIbased approach to the diagnosis of white matter disorders
    • Schiffmann R, van der Knaap MS (2009) Invited article: an MRIbased approach to the diagnosis of white matter disorders. Neurology 72:750-759
    • (2009) Neurology , vol.72 , pp. 750-759
    • Schiffmann, R.1    Van Der Knaap, M.S.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.