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Volumn 39, Issue 3, 2009, Pages 346-353

2q37 as a susceptibility locus for idiopathic basal ganglia calcification (IBGC) in a large south Tyrolean family

Author keywords

Basal ganglia; Calcification; Familial; Linkage; New locus

Indexed keywords

ADULT; AGED; ARTICLE; CHROMOSOME 14Q; CHROMOSOME 2Q; CHROMOSOME 2Q37; CLINICAL ARTICLE; COMPUTER ASSISTED TOMOGRAPHY; FAHR DISEASE; FAMILY; FEMALE; GENE LOCUS; GENE MAPPING; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC SUSCEPTIBILITY; HUMAN; IDIOPATHIC BASAL GANGLIA CALCIFICATION; ITALY; MALE; NERVE DEGENERATION; NEUROIMAGING; PATHOPHYSIOLOGY;

EID: 73849084572     PISSN: 08958696     EISSN: None     Source Type: Journal    
DOI: 10.1007/s12031-009-9287-3     Document Type: Article
Times cited : (47)

References (22)
  • 2
    • 0036461174 scopus 로고    scopus 로고
    • Familial idiopathic basal ganglia calcification (Fahr's disease) without neurological, cognitive and psychiatric symptoms is not linked to the IBGC1 locus on chromosome 14q
    • Brodaty H, Mitchell P, Luscombe G et al (2002) Familial idiopathic basal ganglia calcification (Fahr's disease) without neurological, cognitive and psychiatric symptoms is not linked to the IBGC1 locus on chromosome 14q. Hum Genet 1:8-14
    • (2002) Hum Genet , vol.1 , pp. 8-14
    • Brodaty, H.1    Mitchell, P.2    Luscombe, G.3
  • 3
    • 0024595975 scopus 로고
    • Familial idiopathic striopallidodentate calcifications
    • Ellie E, Julien J, Ferrer X (1989) Familial idiopathic striopallidodentate calcifications. Neurology 3:381-385
    • (1989) Neurology , vol.3 , pp. 381-385
    • Ellie, E.1    Julien, J.2    Ferrer, X.3
  • 4
    • 0033358650 scopus 로고    scopus 로고
    • Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification Fahr disease
    • Geschwind DH, Loginov M, Stern JM (1999) Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease). Am J Hum Genet 3:764-772
    • (1999) Am J Hum Genet , vol.3 , pp. 764-772
    • Geschwind, D.H.1    Loginov, M.2    Stern, J.M.3
  • 5
    • 0034597354 scopus 로고    scopus 로고
    • Japanese family with an autosomal dominant chromosome instability syndrome: A new neurodegenerative disease?
    • Ishikawa S, Ishikawa M, Tokuda T et al (2000) Japanese family with an autosomal dominant chromosome instability syndrome: a new neurodegenerative disease? Am J Med Genet 4:265-270
    • (2000) Am J Med Genet , vol.4 , pp. 265-270
    • Ishikawa, S.1    Ishikawa, M.2    Tokuda, T.3
  • 6
    • 34248199847 scopus 로고    scopus 로고
    • A single nucleotide mutation in Nppc is associated with a long bone abnormality in lbab mice
    • Jiao Y, Yan J, Jiao F et al (2007) A single nucleotide mutation in Nppc is associated with a long bone abnormality in lbab mice. BMC Genet 8:16
    • (2007) BMC Genet , vol.8 , pp. 16
    • Jiao, Y.1    Yan, J.2    Jiao, F.3
  • 7
    • 18544381909 scopus 로고    scopus 로고
    • A high-resolution recombination map of the human genome.
    • Kong A, Gudbjartsson DF, Sainz J et al (2002) A high-resolution recombination map of the human genome. Nat Genet 3:241-247
    • (2002) Nat Genet , vol.3 , pp. 241-247
    • Kong, A.1    Gudbjartsson, D.F.2    Sainz, J.3
  • 8
    • 0029918197 scopus 로고    scopus 로고
    • Neuropsychological alterations in patients with computed tomographydetected basal ganglia calcification
    • Lopez-Villegas D, Kulisevsky J, Deus J et al (1996) Neuropsychological alterations in patients with computed tomographydetected basal ganglia calcification. Arch Neurol 3:251-256
    • (1996) Arch Neurol , vol.3 , pp. 251-256
    • Lopez-Villegas, D.1    Kulisevsky, J.2    Deus, J.3
  • 9
    • 0015215343 scopus 로고
    • Familial calcification of the basal ganglions: A metabolic and genetic study
    • Moskowitz MA, Winickoff RN, Heinz ER (1971) Familial calcification of the basal ganglions: a metabolic and genetic study. N Engl J Med 2:72-77
    • (1971) N Engl J Med , vol.2 , pp. 72-77
    • Moskowitz, M.A.1    Winickoff, R.N.2    Heinz, E.R.3
  • 10
    • 66649135922 scopus 로고    scopus 로고
    • Linkage studies in familial idiopathic basal ganglia calcification: Separating the wheat from the chaff
    • Oliveira JR, Lemos RR (2009) Linkage studies in familial idiopathic basal ganglia calcification: separating the wheat from the chaff. Am J Med Genet B Neuropsychiatr Genet 4:594-595
    • (2009) Am J Med Genet B Neuropsychiatr Genet , vol.4 , pp. 594-595
    • Oliveira, J.R.1    Lemos, R.R.2
  • 11
    • 10444289094 scopus 로고    scopus 로고
    • Genetic heterogeneity in familial idiopathic basal ganglia calcification Fahr disease
    • Oliveira JR, Spiteri E, Sobrido MJ et al (2004) Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease). Neurology 11:2165-2167
    • (2004) Neurology , vol.11 , pp. 2165-2167
    • Oliveira, J.R.1    Spiteri, E.2    Sobrido, M.J.3
  • 12
    • 35348855691 scopus 로고    scopus 로고
    • Analysis of candidate genes at the IBGC1 locus associated with idiopathic basal ganglia calcification "Fahr's disease"
    • Oliveira JR, Sobrido MJ, Spiteri E et al (2007) Analysis of candidate genes at the IBGC1 locus associated with idiopathic basal ganglia calcification ("Fahr's disease"). J Mol Neurosci 2:151-154
    • (2007) J Mol Neurosci , vol.2 , pp. 151-154
    • Oliveira, J.R.1    Sobrido, M.J.2    Spiteri, E.3
  • 13
    • 0031817568 scopus 로고    scopus 로고
    • Biotin-responsive basal ganglia disease: A novel entity
    • Ozand PT, Gascon GG, Al Essa M et al (1998) Biotin-responsive basal ganglia disease: a novel entity. Brain 7:1267-1279
    • (1998) Brain , vol.7 , pp. 1267-1279
    • Ozand, P.T.1    Gascon, G.G.2    Al Essa, M.3
  • 14
    • 34547623796 scopus 로고    scopus 로고
    • The genetic study of three population microisolates in South Tyrol (MICROS): Study design and epidemiological perspectives
    • Pattaro C, Marroni F, Riegler A et al (2007) The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectives. BMC Med Genet 1:29
    • (2007) BMC Med Genet , vol.1 , pp. 29
    • Pattaro, C.1    Marroni, F.2    Riegler, A.3
  • 15
    • 0037483052 scopus 로고    scopus 로고
    • Biochemical characterization of the serum fetuin-mineral complex.
    • Price PA, Nguyen TM, Williamson MK (2003) Biochemical characterization of the serum fetuin-mineral complex. J Biol Chem 24:22153-22160
    • (2003) J Biol Chem , vol.24 , pp. 22153-22160
    • Price, P.A.1    Nguyen, T.M.2    Williamson, M.K.3
  • 17
    • 0029945706 scopus 로고    scopus 로고
    • Descent graphs in pedigree analysis: Applications to haplotyping
    • location scores, and marker-sharing statistics
    • Sobel E, Lange K (1996) Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics. Am J Hum Genet 6:1323-1337
    • (1996) Am J Hum Genet , vol.6 , pp. 1323-1337
    • Sobel, E.1    Lange, K.2
  • 18
    • 33644836318 scopus 로고    scopus 로고
    • Molecular characterization of mitocalcin, a novel mitochondrial Ca2+-binding protein with EF-hand and coiledcoil domains
    • Tominaga M, Kurihara H, Honda S, Amakawa G, Sakai T, Tomooka Y (2006) Molecular characterization of mitocalcin, a novel mitochondrial Ca2+-binding protein with EF-hand and coiledcoil domains. J Neurochem 1:292-304
    • (2006) J Neurochem , vol.1 , pp. 292-304
    • Tominaga, M.1    Kurihara, H.2    Honda, S.3    Amakawa, G.4    Sakai, T.5    Tomooka, Y.6
  • 19
    • 73849108992 scopus 로고    scopus 로고
    • Letter to the editor in response to: "Linkage Studies in Familial Idiopathic Basal Ganglia Calcification: Separating the Wheat from the Chaff". by Oliveira et al
    • 2009 Jun 5
    • Volpato CB (2008) Letter to the editor in response to: "Linkage Studies in Familial Idiopathic Basal Ganglia Calcification: Separating the Wheat from the Chaff" by Oliveira et al. Am J Med Genet B Neuropsychiatr Genet. 2009 Jun 5;150B(4):594-5.
    • (2008) Am J Med Genet B Neuropsychiatr Genet , vol.150 B , Issue.4 , pp. 594-595
    • Volpato, C.B.1
  • 20
    • 73849108992 scopus 로고    scopus 로고
    • Letter to the editor in response to: "Linkage Studies in Familial Idiopathic Basal Ganglia Calcification: Separating the Wheat from the Chaff" by Oliveira et al
    • Volpato CB (2008) Letter to the editor in response to: "Linkage Studies in Familial Idiopathic Basal Ganglia Calcification: Separating the Wheat from the Chaff" by Oliveira et al. Am J Med Genet B Neuropsychiatr Genet 4:593.
    • (2008) Am J Med Genet B Neuropsychiatr Genet , vol.4 , pp. 593
    • Volpato, C.B.1
  • 21
    • 55349138430 scopus 로고    scopus 로고
    • Exclusion of linkage to chromosome 14q in a large South Tyrolean family with idiopathic basal ganglia calcification IBGC
    • Volpato CB, De Grandi A, Buffone E et al (2008) Exclusion of linkage to chromosome 14q in a large South Tyrolean family with idiopathic basal ganglia calcification (IBGC). Am J Med Genet B Neuropsychiatr Genet 7:1319-1322
    • (2008) Am J Med Genet B Neuropsychiatr Genet , vol.7 , pp. 1319-1322
    • Volpato, C.B.1    De Grandi, A.2    Buffone, E.3
  • 22
    • 20544449737 scopus 로고    scopus 로고
    • Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3
    • Zeng WQ, Al-Yamani E, Acierno JS Jr et al (2005) Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. Am J Hum Genet 1:16-26.
    • (2005) Am J Hum Genet , vol.1 , pp. 16-26
    • Zeng, W.Q.1    Al-Yamani, E.2    Acierno Jr., J.S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.