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Volumn 54, Issue 2, 2003, Pages 176-185

How much phenotypic variation can be attributed to parkin genotype?

(23)  Lohmann, Ebba a   Periquet, Magali a   Bonifati, Vincenzo b   Wood, Nick W c   De Michele, Giuseppe d   Bonnet, Anne Marie a   Fraix, Valérie m   Broussolle, Emmanuel e   Horstink, Martin W I M f   Vidailhet, Marie a,g   Verpillat, Patrice a,h   Gasser, Thomas i   Nicholl, David j   Teive, Hélio m   Raskin, Salmo k   Rascol, Olivier m   Destée, Alain l   Ruberg, Merle a   Gasparini, Francesca a   Meco, Giuseppe b   more..


Author keywords

[No Author keywords available]

Indexed keywords

LEVODOPA;

EID: 0042415580     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.10613     Document Type: Article
Times cited : (278)

References (60)
  • 1
    • 0030744876 scopus 로고    scopus 로고
    • Mutation in the alpha-synuclein gene identified in families with Parkinson's disease
    • Polymeropoulos MH, Lavedan C, Leroy E, et al. Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science 1997;276:2045-2047.
    • (1997) Science , vol.276 , pp. 2045-2047
    • Polymeropoulos, M.H.1    Lavedan, C.2    Leroy, E.3
  • 2
    • 0032585351 scopus 로고    scopus 로고
    • Intron-exon structure of ubiquitin c-terminal hydrolase-L1
    • Leroy E, Boyer R, Polymeropoulos MH. Intron-exon structure of ubiquitin c-terminal hydrolase-L1. Nature 1998;5:397-400.
    • (1998) Nature , vol.5 , pp. 397-400
    • Leroy, E.1    Boyer, R.2    Polymeropoulos, M.H.3
  • 3
    • 0037226797 scopus 로고    scopus 로고
    • Mutations in NR4A2 associated with familial Parkinson disease
    • Le W, Xu PY, Jankovic J, et al. Mutations in NR4A2 associated with familial Parkinson disease Nat Genet 2003;33:85-89.
    • (2003) Nat Genet , vol.33 , pp. 85-89
    • Le, W.1    Xu, P.Y.2    Jankovic, J.3
  • 4
    • 0032499264 scopus 로고    scopus 로고
    • Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
    • Kitada T, Asakawa S, Hattori N, et al. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 1998;392:605-608.
    • (1998) Nature , vol.392 , pp. 605-608
    • Kitada, T.1    Asakawa, S.2    Hattori, N.3
  • 5
    • 0037428241 scopus 로고    scopus 로고
    • Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism
    • Bonifati V, Rizzu P, van Baten MJ, et al. Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science 2003;10:256-259.
    • (2003) Science , vol.10 , pp. 256-259
    • Bonifati, V.1    Rizzu, P.2    Van Baten, M.J.3
  • 6
    • 0031951197 scopus 로고    scopus 로고
    • A susceptibility locus for Parkinson's disease maps to chromosome 2p13
    • Gasser T, Muller-Myhsok B, Wszolek ZK, et al. A susceptibility locus for Parkinson's disease maps to chromosome 2p13. Nat Genet 1998;18:262-265.
    • (1998) Nat Genet , vol.18 , pp. 262-265
    • Gasser, T.1    Muller-Myhsok, B.2    Wszolek, Z.K.3
  • 7
    • 0032911910 scopus 로고    scopus 로고
    • A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor
    • Farrer M, Gwinn-Hardy K, Muenter M, et al. A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor. Hum Mol Genet 1999;8:81-85.
    • (1999) Hum Mol Genet , vol.8 , pp. 81-85
    • Farrer, M.1    Gwinn-Hardy, K.2    Muenter, M.3
  • 8
    • 0035068574 scopus 로고    scopus 로고
    • Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36
    • Valente EM, Bentivoglio AR, Dixon PH, et al. Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36. Am J Hum Genet 2001;68:895-900.
    • (2001) Am J Hum Genet , vol.68 , pp. 895-900
    • Valente, E.M.1    Bentivoglio, A.R.2    Dixon, P.H.3
  • 9
    • 0036196860 scopus 로고    scopus 로고
    • A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11.2-q13.1
    • Funayama M, Hasegawa K, Kowa H, et al. A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11.2-q13.1. Ann Neurol 2002;51:296-301.
    • (2002) Ann Neurol , vol.51 , pp. 296-301
    • Funayama, M.1    Hasegawa, K.2    Kowa, H.3
  • 10
    • 0036830525 scopus 로고    scopus 로고
    • A susceptibility gene for late-onset idiopathic Parkinson's disease
    • Hicks AA, Petursson H, Jonsson T, et al. A susceptibility gene for late-onset idiopathic Parkinson's disease. Ann. Neurol 2002;52:549-555.
    • (2002) Ann Neurol , vol.52 , pp. 549-555
    • Hicks, A.A.1    Petursson, H.2    Jonsson, T.3
  • 11
    • 0033544368 scopus 로고    scopus 로고
    • Case-control study of the ubiquitin carboxy-terminal hydrolase L1 gene in Parkinson's disease
    • Maraganore DM, Farrer MJ, Hardy JA, et al. Case-control study of the ubiquitin carboxy-terminal hydrolase L1 gene in Parkinson's disease. Neurology 1999;53:1858.
    • (1999) Neurology , vol.53 , pp. 1858
    • Maraganore, D.M.1    Farrer, M.J.2    Hardy, J.A.3
  • 13
    • 0031990490 scopus 로고    scopus 로고
    • Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease
    • Kruger R, Kuhn W, Muller T, et al. Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease. Nat Genet 1998;18:106-108.
    • (1998) Nat Genet , vol.18 , pp. 106-108
    • Kruger, R.1    Kuhn, W.2    Muller, T.3
  • 14
    • 0342368772 scopus 로고    scopus 로고
    • Association between early-onset Parkinson's disease and mutations in the parkin gene
    • French Parkinson's Disease Genetics Study Group
    • Lücking CB, Durr A, Bonifati V, et al. Association between early-onset Parkinson's disease and mutations in the parkin gene. French Parkinson's Disease Genetics Study Group. N Engl J Med 2000;342:1560-1567.
    • (2000) N Engl J Med , vol.342 , pp. 1560-1567
    • Lücking, C.B.1    Durr, A.2    Bonifati, V.3
  • 15
    • 0035421416 scopus 로고    scopus 로고
    • The importance of gene dosage studies: Mutational analysis of the parkin gene in early-onset parkinsonism
    • Hedrich K, Kann M, Lanthaler AJ, et al. The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism. Hum Mol Genet 2001;10:1649-1656.
    • (2001) Hum Mol Genet , vol.10 , pp. 1649-1656
    • Hedrich, K.1    Kann, M.2    Lanthaler, A.J.3
  • 16
    • 18244412384 scopus 로고    scopus 로고
    • Molecular genetic analysis of a novel Parkin gene in Japanese families with autosomal recessive juvenile parkinsonism: Evidence for variable homozygous deletions in the Parkin gene in affected individuals
    • Hattori N, Kitada T, Matsumine H, et al. Molecular genetic analysis of a novel Parkin gene in Japanese families with autosomal recessive juvenile parkinsonism: evidence for variable homozygous deletions in the Parkin gene in affected individuals. Ann Neurol 1998;44:935-941.
    • (1998) Ann Neurol , vol.44 , pp. 935-941
    • Hattori, N.1    Kitada, T.2    Matsumine, H.3
  • 17
    • 0035957112 scopus 로고    scopus 로고
    • Clinical and pathologic abnormalities in a family with parkinsonism and parkin gene mutations
    • van de Warrenburg BP, Lammens M, Lucking CB, et al. Clinical and pathologic abnormalities in a family with parkinsonism and parkin gene mutations. Neurology 2001;56:555-557.
    • (2001) Neurology , vol.56 , pp. 555-557
    • Van de Warrenburg, B.P.1    Lammens, M.2    Lucking, C.B.3
  • 18
    • 0031721141 scopus 로고    scopus 로고
    • Pathologic and biochemical studies of juvenile parkinsonism linked to chromosome 6q
    • Mori H, Kondo T, Yokochi M, et al. Pathologic and biochemical studies of juvenile parkinsonism linked to chromosome 6q. Neurology 1998;51:890-892.
    • (1998) Neurology , vol.51 , pp. 890-892
    • Mori, H.1    Kondo, T.2    Yokochi, M.3
  • 19
    • 0033814671 scopus 로고    scopus 로고
    • An autopsy case of autosomal-recessive juvenile Parkinsonism with a homozygous exon 4 deletion in the Parkin gene
    • Hayashi S, Wakabayashi K, Ishikawa A, et al. An autopsy case of autosomal-recessive juvenile Parkinsonism with a homozygous exon 4 deletion in the Parkin gene. Mov Disord 2000;15:884-888.
    • (2000) Mov Disord , vol.15 , pp. 884-888
    • Hayashi, S.1    Wakabayashi, K.2    Ishikawa, A.3
  • 20
    • 0036868476 scopus 로고    scopus 로고
    • Steele-Richardson-Olszewski syndrome in a patient with single C212Y mutation in the Parkin protein
    • Morales B, Martinez A, Gonzalo I, et al. Steele-Richardson-Olszewski syndrome in a patient with single C212Y mutation in the Parkin protein. Mov Disord 2002;17:1374-1380.
    • (2002) Mov Disord , vol.17 , pp. 1374-1380
    • Morales, B.1    Martinez, A.2    Gonzalo, I.3
  • 21
    • 0034848395 scopus 로고    scopus 로고
    • Lewy bodies and parkinsonism in families with parkin mutations
    • Farrer M, Chan P, Chen R, et al. Lewy bodies and parkinsonism in families with parkin mutations. Ann Neurol 2001;50:293-300.
    • (2001) Ann Neurol , vol.50 , pp. 293-300
    • Farrer, M.1    Chan, P.2    Chen, R.3
  • 22
    • 0033933048 scopus 로고    scopus 로고
    • Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase
    • Shimura H, Hattori N, Kubo S, et al. Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase. Nat Genet 2000;25:302-305.
    • (2000) Nat Genet , vol.25 , pp. 302-305
    • Shimura, H.1    Hattori, N.2    Kubo, S.3
  • 23
    • 0034680913 scopus 로고    scopus 로고
    • Parkin suppresses unfolded protein stress-induced cell death through its E3 ubiquitin-protein ligase activity
    • Imai Y, Soda M, Takahashi R. Parkin suppresses unfolded protein stress-induced cell death through its E3 ubiquitin-protein ligase activity. J Biol Chem 2000;275:35661-35664.
    • (2000) J Biol Chem , vol.275 , pp. 35661-35664
    • Imai, Y.1    Soda, M.2    Takahashi, R.3
  • 24
    • 0034700158 scopus 로고    scopus 로고
    • Parkin functions as an E2-dependent ubiquitin-protein ligase and promotes the degradation of the synaptic vesicle-associated protein, CDCrel-1
    • Zhang Y, Gao J, Chung KK, et al. Parkin functions as an E2-dependent ubiquitin-protein ligase and promotes the degradation of the synaptic vesicle-associated protein, CDCrel-1. Proc Natl Acad Sci USA 2000;97:13354-13359.
    • (2000) Proc Natl Acad Sci USA , vol.97 , pp. 13354-13359
    • Zhang, Y.1    Gao, J.2    Chung, K.K.3
  • 25
    • 0035957076 scopus 로고    scopus 로고
    • New mutation (R42P) of the parkin gene in the ubiquitinlike domain associated with parkinsonism
    • Terreni L, Calabrese E, Calella AM, et al. New mutation (R42P) of the parkin gene in the ubiquitinlike domain associated with parkinsonism. Neurology 2001;56:463-466.
    • (2001) Neurology , vol.56 , pp. 463-466
    • Terreni, L.1    Calabrese, E.2    Calella, A.M.3
  • 26
    • 0033933192 scopus 로고    scopus 로고
    • Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: Expanding the phenotype
    • Klein C, Pramstaller PP, Kis B, et al. Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype. Ann Neurol 2000;48:65-71.
    • (2000) Ann Neurol , vol.48 , pp. 65-71
    • Klein, C.1    Pramstaller, P.P.2    Kis, B.3
  • 27
    • 18444419131 scopus 로고    scopus 로고
    • Linkage stratification and mutation analysis at the parkin locus identifies mutation positive Parkinson's disease families
    • Nichols WC, Pankratz N, Uniacke SK, et al. Linkage stratification and mutation analysis at the parkin locus identifies mutation positive Parkinson's disease families. J Med Genet 2002;39:489-492.
    • (2002) J Med Genet , vol.39 , pp. 489-492
    • Nichols, W.C.1    Pankratz, N.2    Uniacke, S.K.3
  • 28
    • 0342369398 scopus 로고    scopus 로고
    • Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?
    • Tassin J, Durr A, Bonnet AM, et al. Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations? Brain 2000;123:1112-1121.
    • (2000) Brain , vol.123 , pp. 1112-1121
    • Tassin, J.1    Durr, A.2    Bonnet, A.M.3
  • 29
    • 0037066112 scopus 로고    scopus 로고
    • Parkin mutations in a patient with hemiparkinsonism-hemiatrophy: A clinical-genetic and PET study
    • Pramstaller PP, Kunig G, Leenders K, et al. Parkin mutations in a patient with hemiparkinsonism-hemiatrophy: a clinical-genetic and PET study. Neurology 2002;58:808-810.
    • (2002) Neurology , vol.58 , pp. 808-810
    • Pramstaller, P.P.1    Kunig, G.2    Leenders, K.3
  • 30
    • 0034925088 scopus 로고    scopus 로고
    • Homozygous deletion mutation of the parkin gene in patients with atypical parkinsonism
    • Kuroda Y, Mitsui T, Akaike M, et al. Homozygous deletion mutation of the parkin gene in patients with atypical parkinsonism. J Neurol Neurosurg Psychiatry 2001;71:231-234.
    • (2001) J Neurol Neurosurg Psychiatry , vol.71 , pp. 231-234
    • Kuroda, Y.1    Mitsui, T.2    Akaike, M.3
  • 31
    • 1642618076 scopus 로고    scopus 로고
    • Chromosome 6-linked autosomal recessive early-onset Parkinsonism: Linkage in European and Algerian families, extension of the clinical spectrum, and evidence of a small homozygous deletion in one family
    • The French Parkinson's Disease Genetics Study Group, and the European Consortium on Genetic Susceptibility in Parkinson's Disease
    • Tassin J, Durr A, de Broucker T, et al. Chromosome 6-linked autosomal recessive early-onset Parkinsonism: linkage in European and Algerian families, extension of the clinical spectrum, and evidence of a small homozygous deletion in one family. The French Parkinson's Disease Genetics Study Group, and the European Consortium on Genetic Susceptibility in Parkinson's Disease. Am J Hum Genet 1998;63:88-94.
    • (1998) Am J Hum Genet , vol.63 , pp. 88-94
    • Tassin, J.1    Durr, A.2    De Broucker, T.3
  • 32
    • 0037161261 scopus 로고    scopus 로고
    • Evaluation of 50 pro-bands with early-onset Parkinson's disease for Parkin mutations
    • Hedrich K, Marder K, Harris J, et al. Evaluation of 50 pro-bands with early-onset Parkinson's disease for Parkin mutations. Neurology 2002;58:1239-1246.
    • (2002) Neurology , vol.58 , pp. 1239-1246
    • Hedrich, K.1    Marder, K.2    Harris, J.3
  • 33
    • 0036279143 scopus 로고    scopus 로고
    • Molecular findings in familial Parkinson disease in Spain
    • Hoenicka J, Vidal L, Morales B, et al. Molecular findings in familial Parkinson disease in Spain. Arch Neurol 2002;59:966-970.
    • (2002) Arch Neurol , vol.59 , pp. 966-970
    • Hoenicka, J.1    Vidal, L.2    Morales, B.3
  • 34
    • 18444398035 scopus 로고    scopus 로고
    • Complex relationship between Parkin mutations and Parkinson disease
    • West A, Periquet M, Lincoln S, et al. Complex relationship between Parkin mutations and Parkinson disease. Am J Med Genet 2002;114:584-591.
    • (2002) Am J Med Genet , vol.114 , pp. 584-591
    • West, A.1    Periquet, M.2    Lincoln, S.3
  • 35
    • 0033868381 scopus 로고    scopus 로고
    • Novel mutations, pseudo-dominant inheritance, and possible familial affects in patients with autosomal recessive juvenile parkinsonism
    • Maruyama M, Ikeuchi T, Saito M, et al. Novel mutations, pseudo-dominant inheritance, and possible familial affects in patients with autosomal recessive juvenile parkinsonism. Ann Neurol 2000;48:245-250.
    • (2000) Ann Neurol , vol.48 , pp. 245-250
    • Maruyama, M.1    Ikeuchi, T.2    Saito, M.3
  • 36
    • 0034807374 scopus 로고    scopus 로고
    • Three parkin gene mutations in a sibship with autosomal recessive early onset parkinsonism
    • Bonifati V, Lücking CB, Fabrizio E, et al. Three parkin gene mutations in a sibship with autosomal recessive early onset parkinsonism. J Neurol Neurosurg Psychiatry 2001;71:531-534.
    • (2001) J Neurol Neurosurg Psychiatry , vol.71 , pp. 531-534
    • Bonifati, V.1    Lücking, C.B.2    Fabrizio, E.3
  • 37
    • 0035845715 scopus 로고    scopus 로고
    • Pseudo-dominant inheritance and exon 2 triplication in a family with parkin gene mutations
    • Lücking CB, Bonifati V, Periquet M, et al. Pseudo-dominant inheritance and exon 2 triplication in a family with parkin gene mutations. Neurology 2001;57:924-927.
    • (2001) Neurology , vol.57 , pp. 924-927
    • Lücking, C.B.1    Bonifati, V.2    Periquet, M.3
  • 38
    • 85099489230 scopus 로고    scopus 로고
    • Parkin mutations are frequent in patients with isolated early-onset parkinsonism
    • in press
    • Periquet M, Latouche M, Lohmann E, et al. Parkin mutations are frequent in patients with isolated early-onset parkinsonism. Brain (in press)..
    • Brain
    • Periquet, M.1    Latouche, M.2    Lohmann, E.3
  • 39
    • 0037461335 scopus 로고    scopus 로고
    • New Parkin mutations and atypical phenotypes in families with autosomal recessive parkinsonism
    • Rawal N, Periquet M, Lohmann E, et al. New Parkin mutations and atypical phenotypes in families with autosomal recessive parkinsonism. Neurology 2003;60(8):1378-1381.
    • (2003) Neurology , vol.60 , Issue.8 , pp. 1378-1381
    • Rawal, N.1    Periquet, M.2    Lohmann, E.3
  • 40
    • 0037208848 scopus 로고    scopus 로고
    • Semiquantitative PCR for the detection of exon rearrangements in the parkin gene
    • Potter N, ed. Totowa, NJ: Humana Press
    • Lücking CB, Brice A. Semiquantitative PCR for the detection of exon rearrangements in the parkin gene. In: Methods in molecular medicine-neurogenetics: methods and protocols. Potter N, ed. Totowa, NJ: Humana Press, 2003:13-26.
    • (2003) Methods in Molecular Medicine-neurogenetics: Methods and Protocols , pp. 13-26
    • Lücking, C.B.1    Brice, A.2
  • 41
    • 0345490853 scopus 로고    scopus 로고
    • A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe
    • French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease
    • Abbas N, Lucking CB, Ricard S, et al. A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease. Hum Mol Genet 1999;8:567-574.
    • (1999) Hum Mol Genet , vol.8 , pp. 567-574
    • Abbas, N.1    Lucking, C.B.2    Ricard, S.3
  • 42
    • 0037108727 scopus 로고    scopus 로고
    • Functional association of the parkin gene promoter with idiopathic Parkinson's disease
    • West AB, Maraganore D, Crook J, et al. Functional association of the parkin gene promoter with idiopathic Parkinson's disease. Hum Mol Gen 2002;11:2787-2792.
    • (2002) Hum Mol Gen , vol.11 , pp. 2787-2792
    • West, A.B.1    Maraganore, D.2    Crook, J.3
  • 44
    • 0030015934 scopus 로고    scopus 로고
    • Clinical analysis of 17 patients in 12 Japanese families with autosomal-recessive type juvenile parkinsonism
    • Ishikawa A, Tsuji S. Clinical analysis of 17 patients in 12 Japanese families with autosomal-recessive type juvenile parkinsonism. Neurology 1996;47:160-166.
    • (1996) Neurology , vol.47 , pp. 160-166
    • Ishikawa, A.1    Tsuji, S.2
  • 45
    • 0015590978 scopus 로고
    • Paralysis agitans of early onset with marked diurnal fluctuation of symptoms
    • Yamamura Y, Sobue I, Ando K, et al. Paralysis agitans of early onset with marked diurnal fluctuation of symptoms. Neurology 1973;23:239-244.
    • (1973) Neurology , vol.23 , pp. 239-244
    • Yamamura, Y.1    Sobue, I.2    Ando, K.3
  • 46
    • 0031844291 scopus 로고    scopus 로고
    • Early onset parkinsonism with diurnal fluctuation maps to a locus for juvenile parkinsonism
    • Matsumine H, Yamamura Y, Kobayashi T, et al. Early onset parkinsonism with diurnal fluctuation maps to a locus for juvenile parkinsonism. Neurology 1998;50:1340-1345.
    • (1998) Neurology , vol.50 , pp. 1340-1345
    • Matsumine, H.1    Yamamura, Y.2    Kobayashi, T.3
  • 47
    • 0033849550 scopus 로고    scopus 로고
    • Autosomal recessive early-onset parkinsonism with diurnal fluctuation: Clinicopathologic characteristics and molecular genetic identification
    • Yamamura Y, Hattori N, Matsumine H, et al. Autosomal recessive early-onset parkinsonism with diurnal fluctuation: clinicopathologic characteristics and molecular genetic identification. Brain Dev 2000;22(suppl 1):S87-S91.
    • (2000) Brain Dev , vol.22 , Issue.SUPPL. 1
    • Yamamura, Y.1    Hattori, N.2    Matsumine, H.3
  • 48
    • 18744377764 scopus 로고    scopus 로고
    • Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and parkin gene mutations
    • Wu RM, Shan DE, Sun CM, et al. Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and parkin gene mutations. Mov Disord 2002;17:670-675.
    • (2002) Mov Disord , vol.17 , pp. 670-675
    • Wu, R.M.1    Shan, D.E.2    Sun, C.M.3
  • 49
    • 16944362288 scopus 로고    scopus 로고
    • Localization of a gene for an autosomal recessive form of juvenile Parkinsonism to chromosome 6q25.2-27
    • Matsumine H, Saito M, Shimoda-Matsubayashi S, et al. Localization of a gene for an autosomal recessive form of juvenile Parkinsonism to chromosome 6q25.2-27. Am J Hum Genet 1997;60:588-596.
    • (1997) Am J Hum Genet , vol.60 , pp. 588-596
    • Matsumine, H.1    Saito, M.2    Shimoda-Matsubayashi, S.3
  • 50
    • 0032575607 scopus 로고    scopus 로고
    • Point mutations (Thr240Arg and Gln311Stop) [correction of Thr240Arg and Ala311Stop] in the Parkin gene
    • Hattori N, Matsumine H, Asakawa S, et al. Point mutations (Thr240Arg and Gln311Stop) [correction of Thr240Arg and Ala311Stop] in the Parkin gene. Biochem Biophys Res Commun 1998;249:754-758.
    • (1998) Biochem Biophys Res Commun , vol.249 , pp. 754-758
    • Hattori, N.1    Matsumine, H.2    Asakawa, S.3
  • 51
    • 0031753976 scopus 로고    scopus 로고
    • Deletions in the Parkin gene and genetic heterogeneity in a Greek family with early onset Parkinson's disease
    • Leroy E, Anastasopoulos D, Konitsiotis S, et al. Deletions in the Parkin gene and genetic heterogeneity in a Greek family with early onset Parkinson's disease. Hum Genet 1998;103:424-427.
    • (1998) Hum Genet , vol.103 , pp. 424-427
    • Leroy, E.1    Anastasopoulos, D.2    Konitsiotis, S.3
  • 52
    • 0032564235 scopus 로고    scopus 로고
    • Homozygous deletions in parkin gene in European and North African families with autosomal recessive juvenile parkinsonism
    • The European Consortium on Genetic Susceptibility in Parkinson's Disease and the French Parkinson's Disease Genetics Study Group
    • Lücking CB, Abbas N, Durr A, et al. Homozygous deletions in parkin gene in European and North African families with autosomal recessive juvenile parkinsonism. The European Consortium on Genetic Susceptibility in Parkinson's Disease and the French Parkinson's Disease Genetics Study Group. Lancet 1998;352:1355-1356.
    • (1998) Lancet , vol.352 , pp. 1355-1356
    • Lücking, C.B.1    Abbas, N.2    Durr, A.3
  • 53
    • 0032716207 scopus 로고    scopus 로고
    • Autosomal-recessive juvenile parkinsonism in a Jewish Yemenite kindred: Mutation of Parkin gene
    • Nisipeanu P, Inzelberg R, Blumen SC, et al. Autosomal-recessive juvenile parkinsonism in a Jewish Yemenite kindred: mutation of Parkin gene. Neurology 1999;53:1602-1604.
    • (1999) Neurology , vol.53 , pp. 1602-1604
    • Nisipeanu, P.1    Inzelberg, R.2    Blumen, S.C.3
  • 54
    • 0343517605 scopus 로고    scopus 로고
    • A new mutation in the parkin gene in a patient with atypical autosomal recessive juvenile parkinsonism
    • Munoz E, Pastor P, Marti MJ, et al. A new mutation in the parkin gene in a patient with atypical autosomal recessive juvenile parkinsonism. Neurosci Lett 2000;289:66-68.
    • (2000) Neurosci Lett , vol.289 , pp. 66-68
    • Munoz, E.1    Pastor, P.2    Marti, M.J.3
  • 55
    • 0035793478 scopus 로고    scopus 로고
    • A novel Cys212Tyr founder mutation in parkin and allelic heterogeneity of juvenile Parkinsonism in a population from North West Colombia
    • Pineda-Trujillo N, Carvajal-Carmona LG, Buritica O, et al. A novel Cys212Tyr founder mutation in parkin and allelic heterogeneity of juvenile Parkinsonism in a population from North West Colombia. Neurosci Lett 2001;298:87-90.
    • (2001) Neurosci Lett , vol.298 , pp. 87-90
    • Pineda-Trujillo, N.1    Carvajal-Carmona, L.G.2    Buritica, O.3
  • 56
    • 0035092090 scopus 로고    scopus 로고
    • Origin of the mutations in the parkin gene in Europe: Exon rearrangements are independent recurrent events, whereas point mutations may result from Founder effects
    • Periquet M, Lücking C, Vaughan J, et al. Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from Founder effects. Am J Hum Genet 2001;68:617-626.
    • (2001) Am J Hum Genet , vol.68 , pp. 617-626
    • Periquet, M.1    Lücking, C.2    Vaughan, J.3
  • 57
    • 0035798259 scopus 로고    scopus 로고
    • Early-onset Parkinson's disease associated with a new parkin mutation in a Spanish family
    • Alvarez V, Guisasola LM, Moreira VG, et al. Early-onset Parkinson's disease associated with a new parkin mutation in a Spanish family. Neurosci Lett 2001;313:108-110.
    • (2001) Neurosci Lett , vol.313 , pp. 108-110
    • Alvarez, V.1    Guisasola, L.M.2    Moreira, V.G.3
  • 58
    • 0035849493 scopus 로고    scopus 로고
    • Parkin gene causing benign autosomal recessive juvenile parkinsonism
    • Nisipeanu P, Inzelberg R, Abo MS, et al. Parkin gene causing benign autosomal recessive juvenile parkinsonism. Neurology 2001;56:1573-1575.
    • (2001) Neurology , vol.56 , pp. 1573-1575
    • Nisipeanu, P.1    Inzelberg, R.2    Abo, M.S.3
  • 59
    • 0032543684 scopus 로고    scopus 로고
    • Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17
    • Hutton M, Lendon C, Rizzu, et al. Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 1998;393:702-705.
    • (1998) Nature , vol.393 , pp. 702-705
    • Hutton, M.1    Lendon, C.2    Rizzu3
  • 60
    • 0037134095 scopus 로고    scopus 로고
    • The striatal dopaminergic deficit is dependent on the number of mutant alleles in a family with mutations in the parkin gene: Evidence for enzymatic parkin function in humans
    • Hilker R, Klein C, Hedrich K, et al. The striatal dopaminergic deficit is dependent on the number of mutant alleles in a family with mutations in the parkin gene: evidence for enzymatic parkin function in humans. Neurosci Lett 2002;19:50-54.
    • (2002) Neurosci Lett , vol.19 , pp. 50-54
    • Hilker, R.1    Klein, C.2    Hedrich, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.