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Volumn 77, Issue 12, 2006, Pages 1370-1372

Clinical heterogeneity of recessive ataxia in the Mexican population

Author keywords

[No Author keywords available]

Indexed keywords

FRATAXIN;

EID: 33845233117     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2006.090449     Document Type: Article
Times cited : (15)

References (24)
  • 2
    • 0029821176 scopus 로고    scopus 로고
    • Clinical and genetic abnormalities in patients with Friedreich's ataxia
    • Dürr A, Cossée M, Agid Y, et al. Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med 1996;335:1169-75.
    • (1996) N Engl J Med , vol.335 , pp. 1169-1175
    • Dürr, A.1    Cossée, M.2    Agid, Y.3
  • 3
    • 0029847764 scopus 로고    scopus 로고
    • Evidence for a common origin of most Friedreich ataxia chromosomes in the Spanish population
    • Monrós E, Cañizares J, Moltó MD, et al. Evidence for a common origin of most Friedreich ataxia chromosomes in the Spanish population. Eur J Hum Genet 1996;4:191-8.
    • (1996) Eur J Hum Genet , vol.4 , pp. 191-198
    • Monrós, E.1    Cañizares, J.2    Moltó, M.D.3
  • 4
    • 0029757676 scopus 로고    scopus 로고
    • The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia
    • Filla A, De Michele G, Cavalcanti F, et al. The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am J Hum Genet 1996;59:554-60.
    • (1996) Am J Hum Genet , vol.59 , pp. 554-560
    • Filla, A.1    De Michele, G.2    Cavalcanti, F.3
  • 5
    • 17144467700 scopus 로고    scopus 로고
    • Phenotypic variability in Friedreich ataxia: Role of the associated GAA triplet repeat expansion
    • Montermini L, Richter A, Morgan K, et al. Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion. Ann Neurol 1997;41:675-82.
    • (1997) Ann Neurol , vol.41 , pp. 675-682
    • Montermini, L.1    Richter, A.2    Morgan, K.3
  • 6
    • 0028941326 scopus 로고
    • Early onset ataxia with cardiomyopathy and retained tendon reflexes maps to the Friedreich's ataxia locus on chromosomes 9q
    • Palau F, De Michele G, Vílchez JJ, et al. Early onset ataxia with cardiomyopathy and retained tendon reflexes maps to the Friedreich's ataxia locus on chromosomes 9q. Ann Neurol 1995;37:359-62.
    • (1995) Ann Neurol , vol.37 , pp. 359-362
    • Palau, F.1    De Michele, G.2    Vílchez, J.J.3
  • 8
    • 1842370633 scopus 로고    scopus 로고
    • Friedreich's ataxia. Revision of the phenotype according to molecular genetics
    • Schöls L, Amoiridis G, Przuntek H, et al. Friedreich's ataxia. Revision of the phenotype according to molecular genetics. Brain 1997;120:2131-40.
    • (1997) Brain , vol.120 , pp. 2131-2140
    • Schöls, L.1    Amoiridis, G.2    Przuntek, H.3
  • 9
    • 0033707964 scopus 로고    scopus 로고
    • Accuracy of clinical diagnostic criteria for Friedreich's ataxia
    • Filla A, De Michele G, Coppola G, et al. Accuracy of clinical diagnostic criteria for Friedreich's ataxia. Mov Disord 2000;15:1255-8.
    • (2000) Mov Disord , vol.15 , pp. 1255-1258
    • Filla, A.1    De Michele, G.2    Coppola, G.3
  • 10
    • 18044403702 scopus 로고    scopus 로고
    • Mapping of the second Friedreich's ataxia (FRDA2) locus to chromosome 9p23-p11: Evidence for further locus heterogeneity
    • Christodoulou K, Deymeer F, Serdaroǧlu P, et al. Mapping of the second Friedreich's ataxia (FRDA2) locus to chromosome 9p23-p11: evidence for further locus heterogeneity. Neurogenetics 2001;3:127-32.
    • (2001) Neurogenetics , vol.3 , pp. 127-132
    • Christodoulou, K.1    Deymeer, F.2    Serdaroǧlu, P.3
  • 11
    • 0036238233 scopus 로고    scopus 로고
    • The aetiology of sporadic adult-onset ataxia
    • Abele M, Burk K, Schöls L, et al. The aetiology of sporadic adult-onset ataxia. Brain 2002;125(Pt 5):961-8.
    • (2002) Brain , vol.125 , Issue.PART 5 , pp. 961-968
    • Abele, M.1    Burk, K.2    Schöls, L.3
  • 14
    • 4744342308 scopus 로고    scopus 로고
    • Genetic admixture of European FRDA genes is the cause of Friedreich ataxia in the Mexican population
    • Gómez M, Clark RM, Nath SK, et al. Genetic admixture of European FRDA genes is the cause of Friedreich ataxia in the Mexican population. Genomics 2004;84:779-84.
    • (2004) Genomics , vol.84 , pp. 779-784
    • Gómez, M.1    Clark, R.M.2    Nath, S.K.3
  • 15
    • 0019782799 scopus 로고
    • Friedreich's ataxia: A clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features
    • Harding AE. Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain 1981;104:589-620.
    • (1981) Brain , vol.104 , pp. 589-620
    • Harding, A.E.1
  • 16
    • 0030862745 scopus 로고    scopus 로고
    • Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat
    • Monrós E, Moltó MD, Martínez F, et al. Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat. Am J Hum Genet 1997;61:101-10.
    • (1997) Am J Hum Genet , vol.61 , pp. 101-110
    • Monrós, E.1    Moltó, M.D.2    Martínez, F.3
  • 17
    • 0030904035 scopus 로고    scopus 로고
    • Identification and sizing of the GAA trinucleotide repeat expansion of Friedreich's ataxia in 56 patients. Clinical and genetic correlates
    • Lamont PJ, Davis MB, Wood NW. Identification and sizing of the GAA trinucleotide repeat expansion of Friedreich's ataxia in 56 patients. Clinical and genetic correlates. Brain 1997;120:673-80.
    • (1997) Brain , vol.120 , pp. 673-680
    • Lamont, P.J.1    Davis, M.B.2    Wood, N.W.3
  • 18
    • 0036220140 scopus 로고    scopus 로고
    • Trinucleotide repeats in 202 families with ataxia: A small expanded (CAG)n allele at the SCA17 locus
    • Silveira I, Miranda C, Guimaraes L, et al. Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus. Arch Neurol 2002;59:623-9.
    • (2002) Arch Neurol , vol.59 , pp. 623-629
    • Silveira, I.1    Miranda, C.2    Guimaraes, L.3
  • 19
    • 0035469118 scopus 로고    scopus 로고
    • Friedreich's ataxia: Clinical and molecular study of 25 Brazilian cases
    • Albano LM, Zatz M, Kim CA, et al. Friedreich's ataxia: clinical and molecular study of 25 Brazilian cases. Rev Hosp Clin Fac Med S Paulo 2001;56:143-8.
    • (2001) Rev Hosp Clin Fac Med S Paulo , vol.56 , pp. 143-148
    • Albano, L.M.1    Zatz, M.2    Kim, C.A.3
  • 20
    • 6844236985 scopus 로고    scopus 로고
    • The natural history of degenerative ataxia: A retrospective study in 466 patients
    • Klockgether T, Lüdtke R, Kramer B, et al. The natural history of degenerative ataxia: a retrospective study in 466 patients. Brain 1998;121:589-600.
    • (1998) Brain , vol.121 , pp. 589-600
    • Klockgether, T.1    Lüdtke, R.2    Kramer, B.3
  • 21
    • 10744230604 scopus 로고    scopus 로고
    • Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular aproxia 2
    • Moreira MC, Klur S, Watanabe M, et al. Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular aproxia 2. Nat Genet 2004;36:225-7.
    • (2004) Nat Genet , vol.36 , pp. 225-227
    • Moreira, M.C.1    Klur, S.2    Watanabe, M.3
  • 22
    • 0343384355 scopus 로고    scopus 로고
    • ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF
    • Engert JC, Berube P, Mercier J, et al. ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nat Genet 2000;24:120-5.
    • (2000) Nat Genet , vol.24 , pp. 120-125
    • Engert, J.C.1    Berube, P.2    Mercier, J.3
  • 23
    • 0025487192 scopus 로고
    • La encuesta nacional de adicciones de México [The national addictions survey of Mexico]
    • Tapia-Conyer R, Medina-Mora ME, Sepúlveda J, et al. La encuesta nacional de adicciones de México [The national addictions survey of Mexico]. Salud Publica Mex 1990;32:507-22.
    • (1990) Salud Publica Mex , vol.32 , pp. 507-522
    • Tapia-Conyer, R.1    Medina-Mora, M.E.2    Sepúlveda, J.3
  • 24
    • 20844463433 scopus 로고    scopus 로고
    • Vermal atrophy of alcoholics correlate with serum thiamine levels but not with dentate iron concentrations as estimated by MRI
    • Maschke M, Weber J, Bonnet U, et al. Vermal atrophy of alcoholics correlate with serum thiamine levels but not with dentate iron concentrations as estimated by MRI. J Neurol 2005;252:704-11.
    • (2005) J Neurol , vol.252 , pp. 704-711
    • Maschke, M.1    Weber, J.2    Bonnet, U.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.