메뉴 건너뛰기




Volumn 6, Issue 7, 2007, Pages 652-662

Deciphering the role of heterozygous mutations in genes associated with parkinsonism

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; LEUCINE RICH REPEAT KINASE 2; PARKIN; PTEN INDUCED PUTATIVE KINASE 1; UNCLASSIFIED DRUG;

EID: 34250372427     PISSN: 14744422     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1474-4422(07)70174-6     Document Type: Note
Times cited : (249)

References (125)
  • 2
    • 0342368772 scopus 로고    scopus 로고
    • Association between early-onset Parkinson's disease and mutations in the parkin gene
    • Lucking C., Durr A., Bonifati V., et al. Association between early-onset Parkinson's disease and mutations in the parkin gene. N Engl J Med 342 (2000) 1560-1567
    • (2000) N Engl J Med , vol.342 , pp. 1560-1567
    • Lucking, C.1    Durr, A.2    Bonifati, V.3
  • 3
    • 31344432937 scopus 로고    scopus 로고
    • LRRK2 G2019S as a cause of Parkinson's disease in North African Arabs
    • Lesage S., Durr A., Tazir M., et al. LRRK2 G2019S as a cause of Parkinson's disease in North African Arabs. N Engl J Med 354 (2006) 422-423
    • (2006) N Engl J Med , vol.354 , pp. 422-423
    • Lesage, S.1    Durr, A.2    Tazir, M.3
  • 4
    • 31344439221 scopus 로고    scopus 로고
    • LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews
    • Ozelius L., Senthil G., Saunders-Pullman R., et al. LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews. N Engl J Med 354 (2006) 424-425
    • (2006) N Engl J Med , vol.354 , pp. 424-425
    • Ozelius, L.1    Senthil, G.2    Saunders-Pullman, R.3
  • 5
    • 0030744876 scopus 로고    scopus 로고
    • Mutation in the alpha-synuclein gene identified in families with Parkinson's disease
    • Polymeropoulos M., Lavedan C., Leroy E., et al. Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science 276 (1997) 2045-2047
    • (1997) Science , vol.276 , pp. 2045-2047
    • Polymeropoulos, M.1    Lavedan, C.2    Leroy, E.3
  • 6
    • 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 392 (1998) 605-608
    • (1998) Nature , vol.392 , pp. 605-608
    • Kitada, T.1    Asakawa, S.2    Hattori, N.3
  • 7
    • 2442668926 scopus 로고    scopus 로고
    • Hereditary early-onset Parkinson's disease caused by mutations in PINK1
    • Valente E., Abou-Sleiman P., Caputo V., et al. Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science 304 (2004) 1158-1160
    • (2004) Science , vol.304 , pp. 1158-1160
    • Valente, E.1    Abou-Sleiman, P.2    Caputo, V.3
  • 8
    • 0142217556 scopus 로고    scopus 로고
    • DJ-1(PARK7), a novel gene for autosomal recessive, early onset parkinsonism
    • Bonifati V., Rizzu P., Squitieri F., et al. DJ-1(PARK7), a novel gene for autosomal recessive, early onset parkinsonism. Neurol Sci 24 (2003) 159-160
    • (2003) Neurol Sci , vol.24 , pp. 159-160
    • Bonifati, V.1    Rizzu, P.2    Squitieri, F.3
  • 9
    • 8844233579 scopus 로고    scopus 로고
    • Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology
    • Zimprich A., Biskup S., Leitner P., et al. Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron 44 (2004) 601-607
    • (2004) Neuron , vol.44 , pp. 601-607
    • Zimprich, A.1    Biskup, S.2    Leitner, P.3
  • 10
    • 8844266996 scopus 로고    scopus 로고
    • Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease
    • Paisan-Ruiz C., Jain S., Evans E., et al. Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron 44 (2004) 595-600
    • (2004) Neuron , vol.44 , pp. 595-600
    • Paisan-Ruiz, C.1    Jain, S.2    Evans, E.3
  • 11
    • 33749133430 scopus 로고    scopus 로고
    • Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase
    • Ramirez A., Heimbach A., Grundemann J., et al. Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. Nat Genet 38 (2006) 1184-1191
    • (2006) Nat Genet , vol.38 , pp. 1184-1191
    • Ramirez, A.1    Heimbach, A.2    Grundemann, J.3
  • 13
    • 33644824239 scopus 로고    scopus 로고
    • Interface between tauopathies and synucleinopathies: a tale of two proteins
    • Galpern W., and Lang A. Interface between tauopathies and synucleinopathies: a tale of two proteins. Ann Neurol 59 (2006) 449-458
    • (2006) Ann Neurol , vol.59 , pp. 449-458
    • Galpern, W.1    Lang, A.2
  • 14
    • 27744553995 scopus 로고    scopus 로고
    • Alpha-synuclein and Parkinson's disease: implications from the screening of more than 1,900 patients
    • Berg D., Niwar M., Maass S., et al. Alpha-synuclein and Parkinson's disease: implications from the screening of more than 1,900 patients. Mov Disord 20 (2005) 1191-1194
    • (2005) Mov Disord , vol.20 , pp. 1191-1194
    • Berg, D.1    Niwar, M.2    Maass, S.3
  • 15
    • 4043171279 scopus 로고    scopus 로고
    • Genetic analysis of DJ-1 in a cohort Parkinson's disease patients of different ethnicity
    • Tan E., Tan C., Zhao Y., et al. Genetic analysis of DJ-1 in a cohort Parkinson's disease patients of different ethnicity. Neurosci Lett 367 (2004) 109-112
    • (2004) Neurosci Lett , vol.367 , pp. 109-112
    • Tan, E.1    Tan, C.2    Zhao, Y.3
  • 16
    • 27244432742 scopus 로고    scopus 로고
    • PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism
    • Klein C., Djarmati A., Hedrich K., et al. PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism. Eur J Hum Genet 13 (2005) 1086-1093
    • (2005) Eur J Hum Genet , vol.13 , pp. 1086-1093
    • Klein, C.1    Djarmati, A.2    Hedrich, K.3
  • 17
    • 23744443327 scopus 로고    scopus 로고
    • Nosology of Parkinson's disease: looking for the way out of a quagmire
    • Forman M., Lee V., and Trojanowski J. Nosology of Parkinson's disease: looking for the way out of a quagmire. Neuron 47 (2005) 479-482
    • (2005) Neuron , vol.47 , pp. 479-482
    • Forman, M.1    Lee, V.2    Trojanowski, J.3
  • 18
    • 33750459730 scopus 로고    scopus 로고
    • Parkinsonism genes: culprits and clues
    • Abeliovich A., and Beal M. Parkinsonism genes: culprits and clues. J Neurochem 99 (2006) 1062-1072
    • (2006) J Neurochem , vol.99 , pp. 1062-1072
    • Abeliovich, A.1    Beal, M.2
  • 19
    • 26444613397 scopus 로고    scopus 로고
    • Escaping Parkinson's disease: a neurologically healthy octogenarian with the LRRK2 G2019S mutation
    • Kay D., Kramer P., Higgins D., Zabetian C., and Payami H. Escaping Parkinson's disease: a neurologically healthy octogenarian with the LRRK2 G2019S mutation. Mov Disord 20 (2005) 1077-1078
    • (2005) Mov Disord , vol.20 , pp. 1077-1078
    • Kay, D.1    Kramer, P.2    Higgins, D.3    Zabetian, C.4    Payami, H.5
  • 20
    • 33750973349 scopus 로고    scopus 로고
    • Leucine-rich repeat kinase 2 (LRRK2) mutations in a Swedish Parkinson cohort and a healthy nonagenarian
    • Carmine Belin A., Westerlund M., Sydow O., et al. Leucine-rich repeat kinase 2 (LRRK2) mutations in a Swedish Parkinson cohort and a healthy nonagenarian. Mov Disord 21 (2006) 1731-1734
    • (2006) Mov Disord , vol.21 , pp. 1731-1734
    • Carmine Belin, A.1    Westerlund, M.2    Sydow, O.3
  • 21
    • 4444237208 scopus 로고    scopus 로고
    • Novel PINK1 mutations in early-onset parkinsonism
    • Hatano Y., Li Y., Sato K., et al. Novel PINK1 mutations in early-onset parkinsonism. Ann Neurol 56 (2004) 424-427
    • (2004) Ann Neurol , vol.56 , pp. 424-427
    • Hatano, Y.1    Li, Y.2    Sato, K.3
  • 22
    • 33645160640 scopus 로고    scopus 로고
    • The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson's disease and originates from a common ancestor
    • Goldwurm S., Di Fonzo A., Simons E., et al. The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson's disease and originates from a common ancestor. J Med Genet 42 (2005) e65
    • (2005) J Med Genet , vol.42
    • Goldwurm, S.1    Di Fonzo, A.2    Simons, E.3
  • 23
    • 33745099053 scopus 로고    scopus 로고
    • Clinical spectrum of homozygous and heterozygous PINK1 mutations in a large German family with Parkinson disease: role of a single hit?
    • Hedrich K., Hagenah J., Djarmati A., et al. Clinical spectrum of homozygous and heterozygous PINK1 mutations in a large German family with Parkinson disease: role of a single hit?. Arch Neurol 63 (2006) 833-838
    • (2006) Arch Neurol , vol.63 , pp. 833-838
    • Hedrich, K.1    Hagenah, J.2    Djarmati, A.3
  • 24
    • 28344457936 scopus 로고    scopus 로고
    • Lrrk2 pathogenic substitutions in Parkinson's disease
    • Mata I., Kachergus J., Taylor J., et al. Lrrk2 pathogenic substitutions in Parkinson's disease. Neurogenetics 6 (2005) 171-177
    • (2005) Neurogenetics , vol.6 , pp. 171-177
    • Mata, I.1    Kachergus, J.2    Taylor, J.3
  • 25
    • 20044388324 scopus 로고    scopus 로고
    • Interaction of alpha-synuclein and tau genotypes in Parkinson's disease
    • Mamah C., Lesnick T., Lincoln S., et al. Interaction of alpha-synuclein and tau genotypes in Parkinson's disease. Ann Neurol 57 (2005) 439-443
    • (2005) Ann Neurol , vol.57 , pp. 439-443
    • Mamah, C.1    Lesnick, T.2    Lincoln, S.3
  • 26
    • 12144289221 scopus 로고    scopus 로고
    • UCHL1 is a Parkinson's disease susceptibility gene
    • Maraganore D., Lesnick T., Elbaz A., et al. UCHL1 is a Parkinson's disease susceptibility gene. Ann Neurol 55 (2004) 512-521
    • (2004) Ann Neurol , vol.55 , pp. 512-521
    • Maraganore, D.1    Lesnick, T.2    Elbaz, A.3
  • 27
    • 33846358949 scopus 로고    scopus 로고
    • The LRRK2 Gly2385Arg variant is associated with Parkinson's disease: genetic and functional evidence
    • Tan E., Zhao Y., Skipper L., et al. The LRRK2 Gly2385Arg variant is associated with Parkinson's disease: genetic and functional evidence. Hum Genet 120 (2006) 857-863
    • (2006) Hum Genet , vol.120 , pp. 857-863
    • Tan, E.1    Zhao, Y.2    Skipper, L.3
  • 29
    • 0042415580 scopus 로고    scopus 로고
    • How much phenotypic variation can be attributed to parkin genotype?
    • Lohmann E., Periquet M., Bonifati V., et al. How much phenotypic variation can be attributed to parkin genotype?. Ann Neurol 54 (2003) 176-185
    • (2003) Ann Neurol , vol.54 , pp. 176-185
    • Lohmann, E.1    Periquet, M.2    Bonifati, V.3
  • 30
    • 19944432606 scopus 로고    scopus 로고
    • Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease
    • Nichols W., Pankratz N., Hernandez D., et al. Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease. Lancet 365 (2005) 410-412
    • (2005) Lancet , vol.365 , pp. 410-412
    • Nichols, W.1    Pankratz, N.2    Hernandez, D.3
  • 31
    • 24644486896 scopus 로고    scopus 로고
    • A clinic-based study of the LRRK2 gene in Parkinson disease yields new mutations
    • Zabetian C., Samii A., Mosley A., et al. A clinic-based study of the LRRK2 gene in Parkinson disease yields new mutations. Neurology 65 (2005) 741-744
    • (2005) Neurology , vol.65 , pp. 741-744
    • Zabetian, C.1    Samii, A.2    Mosley, A.3
  • 32
    • 33646271123 scopus 로고    scopus 로고
    • Parkinson's disease and LRRK2: frequency of a common mutation in US movement disorder clinics
    • Kay D., Zabetian C., Factor S., et al. Parkinson's disease and LRRK2: frequency of a common mutation in US movement disorder clinics. Mov Disord 21 (2006) 519-523
    • (2006) Mov Disord , vol.21 , pp. 519-523
    • Kay, D.1    Zabetian, C.2    Factor, S.3
  • 33
    • 33748621731 scopus 로고    scopus 로고
    • Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations
    • Ishihara L., Warren L., Gibson R., et al. Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations. Arch Neurol 63 (2006) 1250-1254
    • (2006) Arch Neurol , vol.63 , pp. 1250-1254
    • Ishihara, L.1    Warren, L.2    Gibson, R.3
  • 34
    • 33750305328 scopus 로고    scopus 로고
    • Recurrent LRRK2 (Park8) mutations in early-onset Parkinson's disease
    • Hedrich K., Winkler S., Hagenah J., et al. Recurrent LRRK2 (Park8) mutations in early-onset Parkinson's disease. Mov Disord 21 (2006) 1506-1510
    • (2006) Mov Disord , vol.21 , pp. 1506-1510
    • Hedrich, K.1    Winkler, S.2    Hagenah, J.3
  • 35
    • 34247591939 scopus 로고    scopus 로고
    • LRRK2 G6055A mutation in Italian patients with familial or sporadic Parkinson's disease
    • Civitelli D., Tarantino P., Nicoletti G., et al. LRRK2 G6055A mutation in Italian patients with familial or sporadic Parkinson's disease. Clin Genet 71 (2007) 367-370
    • (2007) Clin Genet , vol.71 , pp. 367-370
    • Civitelli, D.1    Tarantino, P.2    Nicoletti, G.3
  • 36
    • 34250330484 scopus 로고    scopus 로고
    • High prevalence of LRRK2 mutations in familial and sporadic Parkinson's disease in Portugal
    • published online April 27. DOI:10.1002/mds.21525
    • Ferreira J., Guedes L., Rosa M., et al. High prevalence of LRRK2 mutations in familial and sporadic Parkinson's disease in Portugal. Mov Disord (2007). published online April 27. DOI:10.1002/mds.21525
    • (2007) Mov Disord
    • Ferreira, J.1    Guedes, L.2    Rosa, M.3
  • 37
    • 20444420103 scopus 로고    scopus 로고
    • An LRRK2 mutation as a cause for the parkinsonism in the original PARK8 family
    • Funayama M., Hasegawa K., Ohta E., et al. An LRRK2 mutation as a cause for the parkinsonism in the original PARK8 family. Ann Neurol 57 (2005) 918-921
    • (2005) Ann Neurol , vol.57 , pp. 918-921
    • Funayama, M.1    Hasegawa, K.2    Ohta, E.3
  • 38
    • 24644497562 scopus 로고    scopus 로고
    • LRRK2 mutations in Parkinson disease
    • Farrer M., Stone J., Mata I., et al. LRRK2 mutations in Parkinson disease. Neurology 65 (2005) 738-740
    • (2005) Neurology , vol.65 , pp. 738-740
    • Farrer, M.1    Stone, J.2    Mata, I.3
  • 39
    • 24644431901 scopus 로고    scopus 로고
    • LRRK2 gene in Parkinson disease: mutation analysis and case control association study
    • Paisan-Ruiz C., Lang A., Kawarai T., et al. LRRK2 gene in Parkinson disease: mutation analysis and case control association study. Neurology 65 (2005) 696-700
    • (2005) Neurology , vol.65 , pp. 696-700
    • Paisan-Ruiz, C.1    Lang, A.2    Kawarai, T.3
  • 40
    • 20144387207 scopus 로고    scopus 로고
    • Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations
    • Kachergus J., Mata I., Hulihan M., et al. Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations. Am J Hum Genet 76 (2005) 672-680
    • (2005) Am J Hum Genet , vol.76 , pp. 672-680
    • Kachergus, J.1    Mata, I.2    Hulihan, M.3
  • 41
    • 27644455523 scopus 로고    scopus 로고
    • G2019S LRRK2 mutation in French and North African families with Parkinson's disease
    • Lesage S., Ibanez P., Lohmann E., et al. G2019S LRRK2 mutation in French and North African families with Parkinson's disease. Ann Neurol 58 (2005) 784-787
    • (2005) Ann Neurol , vol.58 , pp. 784-787
    • Lesage, S.1    Ibanez, P.2    Lohmann, E.3
  • 42
    • 33644822969 scopus 로고    scopus 로고
    • Type and frequency of mutations in the LRRK2 gene in familial and sporadic Parkinson's disease*
    • Berg D., Schweitzer K., Leitner P., et al. Type and frequency of mutations in the LRRK2 gene in familial and sporadic Parkinson's disease*. Brain 128 (2005) 3000-3011
    • (2005) Brain , vol.128 , pp. 3000-3011
    • Berg, D.1    Schweitzer, K.2    Leitner, P.3
  • 43
    • 33645139675 scopus 로고    scopus 로고
    • Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease
    • Di Fonzo A., Tassorelli C., De Mari M., et al. Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease. Eur J Hum Genet 14 (2006) 322-331
    • (2006) Eur J Hum Genet , vol.14 , pp. 322-331
    • Di Fonzo, A.1    Tassorelli, C.2    De Mari, M.3
  • 44
    • 22544465257 scopus 로고    scopus 로고
    • LRRK2 haplotype analyses in European and North African families with Parkinson disease: a common founder for the G2019S mutation dating from the 13th century
    • Lesage S., Leutenegger A., Ibanez P., et al. LRRK2 haplotype analyses in European and North African families with Parkinson disease: a common founder for the G2019S mutation dating from the 13th century. Am J Hum Genet 77 (2005) 330-332
    • (2005) Am J Hum Genet , vol.77 , pp. 330-332
    • Lesage, S.1    Leutenegger, A.2    Ibanez, P.3
  • 45
    • 31144443248 scopus 로고    scopus 로고
    • The Parkinson disease causing LRRK2 mutation I2020T is associated with increased kinase activity
    • Gloeckner C., Kinkl N., Schumacher A., et al. The Parkinson disease causing LRRK2 mutation I2020T is associated with increased kinase activity. Hum Mol Genet 15 (2006) 223-232
    • (2006) Hum Mol Genet , vol.15 , pp. 223-232
    • Gloeckner, C.1    Kinkl, N.2    Schumacher, A.3
  • 46
    • 33748993710 scopus 로고    scopus 로고
    • Kinase activity of mutant LRRK2 mediates neuronal toxicity
    • Smith W., Pei Z., Jiang H., Dawson V., Dawson T., and Ross C. Kinase activity of mutant LRRK2 mediates neuronal toxicity. Nat Neurosci 9 (2006) 1231-1233
    • (2006) Nat Neurosci , vol.9 , pp. 1231-1233
    • Smith, W.1    Pei, Z.2    Jiang, H.3    Dawson, V.4    Dawson, T.5    Ross, C.6
  • 47
    • 28044460070 scopus 로고    scopus 로고
    • Parkinson's disease-associated mutations in leucine-rich repeat kinase 2 augment kinase activity
    • West A., Moore D., Biskup S., et al. Parkinson's disease-associated mutations in leucine-rich repeat kinase 2 augment kinase activity. Proc Natl Acad Sci USA 102 (2005) 16842-16847
    • (2005) Proc Natl Acad Sci USA , vol.102 , pp. 16842-16847
    • West, A.1    Moore, D.2    Biskup, S.3
  • 48
    • 29444437871 scopus 로고    scopus 로고
    • Leucine-rich repeat kinase 2 (LRRK2) interacts with parkin, and mutant LRRK2 induces neuronal degeneration
    • Smith W., Pei Z., Jiang H., et al. Leucine-rich repeat kinase 2 (LRRK2) interacts with parkin, and mutant LRRK2 induces neuronal degeneration. Proc Natl Acad Sci USA 102 (2005) 18676-18681
    • (2005) Proc Natl Acad Sci USA , vol.102 , pp. 18676-18681
    • Smith, W.1    Pei, Z.2    Jiang, H.3
  • 49
    • 33746267531 scopus 로고    scopus 로고
    • Kinase activity is required for the toxic effects of mutant LRRK2/dardarin
    • Greggio E., Jain S., Kingsbury A., et al. Kinase activity is required for the toxic effects of mutant LRRK2/dardarin. Neurobiol Dis 23 (2006) 329-341
    • (2006) Neurobiol Dis , vol.23 , pp. 329-341
    • Greggio, E.1    Jain, S.2    Kingsbury, A.3
  • 50
    • 33846562487 scopus 로고    scopus 로고
    • Parkinson's disease-associated mutations in LRRK2 link enhanced GTP-binding and kinase activities to neuronal toxicity
    • West A., Moore D., Choi C., et al. Parkinson's disease-associated mutations in LRRK2 link enhanced GTP-binding and kinase activities to neuronal toxicity. Hum Mol Genet 16 (2007) 223-232
    • (2007) Hum Mol Genet , vol.16 , pp. 223-232
    • West, A.1    Moore, D.2    Choi, C.3
  • 52
    • 33644934224 scopus 로고    scopus 로고
    • LRRK2 is expressed in areas affected by Parkinson's disease in the adult mouse brain
    • Simon-Sanchez J., Herranz-Perez V., Olucha-Bordonau F., and Perez-Tur J. LRRK2 is expressed in areas affected by Parkinson's disease in the adult mouse brain. Eur J Neurosci 23 (2006) 659-666
    • (2006) Eur J Neurosci , vol.23 , pp. 659-666
    • Simon-Sanchez, J.1    Herranz-Perez, V.2    Olucha-Bordonau, F.3    Perez-Tur, J.4
  • 53
    • 32044432395 scopus 로고    scopus 로고
    • Biochemical and pathological characterization of Lrrk2
    • Giasson B., Covy J., Bonini N., et al. Biochemical and pathological characterization of Lrrk2. Ann Neurol 59 (2006) 315-322
    • (2006) Ann Neurol , vol.59 , pp. 315-322
    • Giasson, B.1    Covy, J.2    Bonini, N.3
  • 54
    • 33845453622 scopus 로고    scopus 로고
    • Frequency of LRRK2 mutations in early- and late-onset Parkinson disease
    • Clark L., Wang Y., Karlins E., et al. Frequency of LRRK2 mutations in early- and late-onset Parkinson disease. Neurology 67 (2006) 1786-1791
    • (2006) Neurology , vol.67 , pp. 1786-1791
    • Clark, L.1    Wang, Y.2    Karlins, E.3
  • 55
    • 33644929033 scopus 로고    scopus 로고
    • LRRK2 mutations in Spanish patients with Parkinson disease: frequency, clinical features, and incomplete penetrance
    • Gaig C., Ezquerra M., Marti M., Munoz E., Valldeoriola F., and Tolosa E. LRRK2 mutations in Spanish patients with Parkinson disease: frequency, clinical features, and incomplete penetrance. Arch Neurol 63 (2006) 377-382
    • (2006) Arch Neurol , vol.63 , pp. 377-382
    • Gaig, C.1    Ezquerra, M.2    Marti, M.3    Munoz, E.4    Valldeoriola, F.5    Tolosa, E.6
  • 56
    • 28544434193 scopus 로고    scopus 로고
    • PET in LRRK2 mutations: comparison to sporadic Parkinson's disease and evidence for presymptomatic compensation
    • Adams J., van Netten H., Schulzer M., et al. PET in LRRK2 mutations: comparison to sporadic Parkinson's disease and evidence for presymptomatic compensation. Brain 128 (2005) 2777-2785
    • (2005) Brain , vol.128 , pp. 2777-2785
    • Adams, J.1    van Netten, H.2    Schulzer, M.3
  • 57
    • 2342605968 scopus 로고    scopus 로고
    • Autosomal dominant parkinsonism associated with variable synuclein and tau pathology
    • Wszolek Z., Pfeiffer R., Tsuboi Y., et al. Autosomal dominant parkinsonism associated with variable synuclein and tau pathology. Neurology 62 (2004) 1619-1622
    • (2004) Neurology , vol.62 , pp. 1619-1622
    • Wszolek, Z.1    Pfeiffer, R.2    Tsuboi, Y.3
  • 58
    • 33750308194 scopus 로고    scopus 로고
    • Parkinsonism, Lrrk2 G2019S, and tau neuropathology
    • Rajput A., Dickson D., Robinson C., et al. Parkinsonism, Lrrk2 G2019S, and tau neuropathology. Neurology 67 (2006) 1506-1508
    • (2006) Neurology , vol.67 , pp. 1506-1508
    • Rajput, A.1    Dickson, D.2    Robinson, C.3
  • 59
    • 32944461546 scopus 로고    scopus 로고
    • Heterogeneous phenotype in a family with compound heterozygous parkin gene mutations
    • Deng H., Le W., Hunter C., et al. Heterogeneous phenotype in a family with compound heterozygous parkin gene mutations. Arch Neurol 63 (2006) 273-277
    • (2006) Arch Neurol , vol.63 , pp. 273-277
    • Deng, H.1    Le, W.2    Hunter, C.3
  • 60
    • 0342369398 scopus 로고    scopus 로고
    • Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?
    • Tassin J., Durr A., Bonnet A., et al. Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?. Brain 123 (2000) 1112-1121
    • (2000) Brain , vol.123 , pp. 1112-1121
    • Tassin, J.1    Durr, A.2    Bonnet, A.3
  • 61
    • 24644462201 scopus 로고    scopus 로고
    • Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers
    • Pramstaller P., Schlossmacher M., Jacques T., et al. Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers. Ann Neurol 58 (2005) 411-422
    • (2005) Ann Neurol , vol.58 , pp. 411-422
    • Pramstaller, P.1    Schlossmacher, M.2    Jacques, T.3
  • 62
    • 7244261867 scopus 로고    scopus 로고
    • Distribution, type, and origin of Parkin mutations: review and case studies
    • Hedrich K., Eskelson C., Wilmot B., et al. Distribution, type, and origin of Parkin mutations: review and case studies. Mov Disord 19 (2004) 1146-1157
    • (2004) Mov Disord , vol.19 , pp. 1146-1157
    • Hedrich, K.1    Eskelson, C.2    Wilmot, B.3
  • 63
    • 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 A., et al. The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism. Hum Mol Genet 10 (2001) 1649-1656
    • (2001) Hum Mol Genet , vol.10 , pp. 1649-1656
    • Hedrich, K.1    Kann, M.2    Lanthaler, A.3
  • 64
    • 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 25 (2000) 302-305
    • (2000) Nat Genet , vol.25 , pp. 302-305
    • Shimura, H.1    Hattori, N.2    Kubo, S.3
  • 65
    • 33745280651 scopus 로고    scopus 로고
    • Biochemical analysis of Parkinson's disease-causing variants of Parkin, an E3 ubiquitin-protein ligase with monoubiquitylation capacity
    • Hampe C., Ardila-Osorio H., Fournier M., Brice A., and Corti O. Biochemical analysis of Parkinson's disease-causing variants of Parkin, an E3 ubiquitin-protein ligase with monoubiquitylation capacity. Hum Mol Genet 15 (2006) 2059-2075
    • (2006) Hum Mol Genet , vol.15 , pp. 2059-2075
    • Hampe, C.1    Ardila-Osorio, H.2    Fournier, M.3    Brice, A.4    Corti, O.5
  • 66
    • 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 K., Huang H., Dawson V., and Dawson T. 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 97 (2000) 13354-13359
    • (2000) Proc Natl Acad Sci USA , vol.97 , pp. 13354-13359
    • Zhang, Y.1    Gao, J.2    Chung, K.3    Huang, H.4    Dawson, V.5    Dawson, T.6
  • 67
    • 0037137702 scopus 로고    scopus 로고
    • Parkin protects against the toxicity associated with mutant alpha-synuclein: proteasome dysfunction selectively affects catecholaminergic neurons
    • Petrucelli L., O'Farrell C., Lockhart P., et al. Parkin protects against the toxicity associated with mutant alpha-synuclein: proteasome dysfunction selectively affects catecholaminergic neurons. Neuron 36 (2002) 1007-1019
    • (2002) Neuron , vol.36 , pp. 1007-1019
    • Petrucelli, L.1    O'Farrell, C.2    Lockhart, P.3
  • 68
    • 0037468831 scopus 로고    scopus 로고
    • Parkin suppresses dopaminergic neuron-selective neurotoxicity induced by Pael-R in Drosophila
    • Yang Y., Nishimura I., Imai Y., Takahashi R., and Lu B. Parkin suppresses dopaminergic neuron-selective neurotoxicity induced by Pael-R in Drosophila. Neuron 37 (2003) 911-924
    • (2003) Neuron , vol.37 , pp. 911-924
    • Yang, Y.1    Nishimura, I.2    Imai, Y.3    Takahashi, R.4    Lu, B.5
  • 69
    • 0037431172 scopus 로고    scopus 로고
    • Parkin: a multipurpose neuroprotective agent?
    • Feany M., and Pallanck L. Parkin: a multipurpose neuroprotective agent?. Neuron 38 (2003) 13-16
    • (2003) Neuron , vol.38 , pp. 13-16
    • Feany, M.1    Pallanck, L.2
  • 70
    • 2442481789 scopus 로고    scopus 로고
    • Mitochondrial dysfunction and oxidative damage in parkin-deficient mice
    • Palacino J., Sagi D., Goldberg M., et al. Mitochondrial dysfunction and oxidative damage in parkin-deficient mice. J Biol Chem 279 (2004) 18614-18622
    • (2004) J Biol Chem , vol.279 , pp. 18614-18622
    • Palacino, J.1    Sagi, D.2    Goldberg, M.3
  • 71
    • 2542560342 scopus 로고    scopus 로고
    • Drosophila parkin mutants have decreased mass and cell size and increased sensitivity to oxygen radical stress
    • Pesah Y., Pham T., Burgess H., et al. Drosophila parkin mutants have decreased mass and cell size and increased sensitivity to oxygen radical stress. Development 131 (2004) 2183-2194
    • (2004) Development , vol.131 , pp. 2183-2194
    • Pesah, Y.1    Pham, T.2    Burgess, H.3
  • 72
    • 28844439032 scopus 로고    scopus 로고
    • Proteomic analysis of parkin knockout mice: alterations in energy metabolism, protein handling and synaptic function
    • Periquet M., Corti O., Jacquier S., and Brice A. Proteomic analysis of parkin knockout mice: alterations in energy metabolism, protein handling and synaptic function. J Neurochem 95 (2005) 1259-1276
    • (2005) J Neurochem , vol.95 , pp. 1259-1276
    • Periquet, M.1    Corti, O.2    Jacquier, S.3    Brice, A.4
  • 74
  • 75
    • 20344372713 scopus 로고    scopus 로고
    • Parkinson's disease: assays for the ubiquitin ligase activity of neural Parkin
    • Schlossmacher M., and Shimura H. Parkinson's disease: assays for the ubiquitin ligase activity of neural Parkin. Methods Mol Biol 301 (2005) 351-369
    • (2005) Methods Mol Biol , vol.301 , pp. 351-369
    • Schlossmacher, M.1    Shimura, H.2
  • 76
    • 5644254800 scopus 로고    scopus 로고
    • PINK1 (PARK6) associated Parkinson disease in Ireland
    • Healy D., Abou-Sleiman P., Gibson J., et al. PINK1 (PARK6) associated Parkinson disease in Ireland. Neurology 63 (2004) 1486-1488
    • (2004) Neurology , vol.63 , pp. 1486-1488
    • Healy, D.1    Abou-Sleiman, P.2    Gibson, J.3
  • 77
    • 10044275502 scopus 로고    scopus 로고
    • Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease
    • Rogaeva E., Johnson J., Lang A., et al. Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease. Arch Neurol 61 (2004) 1898-1904
    • (2004) Arch Neurol , vol.61 , pp. 1898-1904
    • Rogaeva, E.1    Johnson, J.2    Lang, A.3
  • 78
    • 20444377223 scopus 로고    scopus 로고
    • Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism
    • Li Y., Tomiyama H., Sato K., et al. Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism. Neurology 64 (2005) 1955-1957
    • (2005) Neurology , vol.64 , pp. 1955-1957
    • Li, Y.1    Tomiyama, H.2    Sato, K.3
  • 79
    • 22044432781 scopus 로고    scopus 로고
    • Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes
    • Bonifati V., Rohe C., Breedveld G., et al. Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes. Neurology 65 (2005) 87-95
    • (2005) Neurology , vol.65 , pp. 87-95
    • Bonifati, V.1    Rohe, C.2    Breedveld, G.3
  • 80
    • 33745845523 scopus 로고    scopus 로고
    • PINK1 mutations in sporadic early-onset Parkinson's disease
    • Tan E., Yew K., Chua E., et al. PINK1 mutations in sporadic early-onset Parkinson's disease. Mov Disord 21 (2006) 789-793
    • (2006) Mov Disord , vol.21 , pp. 789-793
    • Tan, E.1    Yew, K.2    Chua, E.3
  • 81
    • 27944444154 scopus 로고    scopus 로고
    • Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism
    • Silvestri L., Caputo V., Bellacchio E., et al. Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism. Hum Mol Genet 14 (2005) 3477-3492
    • (2005) Hum Mol Genet , vol.14 , pp. 3477-3492
    • Silvestri, L.1    Caputo, V.2    Bellacchio, E.3
  • 82
    • 26644440926 scopus 로고    scopus 로고
    • Wild-type PINK1 prevents basal and induced neuronal apoptosis, a protective effect abrogated by Parkinson disease-related mutations
    • Petit A., Kawarai T., Paitel E., et al. Wild-type PINK1 prevents basal and induced neuronal apoptosis, a protective effect abrogated by Parkinson disease-related mutations. J Biol Chem 280 (2005) 34025-34032
    • (2005) J Biol Chem , vol.280 , pp. 34025-34032
    • Petit, A.1    Kawarai, T.2    Paitel, E.3
  • 83
    • 17644365438 scopus 로고    scopus 로고
    • Mutations in PTEN-induced putative kinase 1 associated with recessive parkinsonism have differential effects on protein stability
    • Beilina A., Van Der Brug M., Ahmad R., et al. Mutations in PTEN-induced putative kinase 1 associated with recessive parkinsonism have differential effects on protein stability. Proc Natl Acad Sci USA 102 (2005) 5703-5708
    • (2005) Proc Natl Acad Sci USA , vol.102 , pp. 5703-5708
    • Beilina, A.1    Van Der Brug, M.2    Ahmad, R.3
  • 84
    • 33750220194 scopus 로고    scopus 로고
    • C-terminal truncation and Parkinson's disease-associated mutations down-regulate the protein serine/threonine kinase activity of PTEN-induced kinase-1
    • Sim C., Lio D., Mok S., et al. C-terminal truncation and Parkinson's disease-associated mutations down-regulate the protein serine/threonine kinase activity of PTEN-induced kinase-1. Hum Mol Genet 15 (2006) 3251-3262
    • (2006) Hum Mol Genet , vol.15 , pp. 3251-3262
    • Sim, C.1    Lio, D.2    Mok, S.3
  • 85
    • 33745589773 scopus 로고    scopus 로고
    • Drosophila pink1 is required for mitochondrial function and interacts genetically with parkin
    • Clark I., Dodson M., Jiang C., et al. Drosophila pink1 is required for mitochondrial function and interacts genetically with parkin. Nature 441 (2006) 1162-1166
    • (2006) Nature , vol.441 , pp. 1162-1166
    • Clark, I.1    Dodson, M.2    Jiang, C.3
  • 86
    • 33745602748 scopus 로고    scopus 로고
    • Mitochondrial dysfunction in Drosophila PINK1 mutants is complemented by parkin
    • Park J., Lee S., Lee S., et al. Mitochondrial dysfunction in Drosophila PINK1 mutants is complemented by parkin. Nature 441 (2006) 1157-1161
    • (2006) Nature , vol.441 , pp. 1157-1161
    • Park, J.1    Lee, S.2    Lee, S.3
  • 87
    • 10744226640 scopus 로고    scopus 로고
    • DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease
    • Hedrich K., Djarmati A., Schafer N., et al. DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease. Neurology 62 (2004) 389-394
    • (2004) Neurology , vol.62 , pp. 389-394
    • Hedrich, K.1    Djarmati, A.2    Schafer, N.3
  • 88
    • 0037161261 scopus 로고    scopus 로고
    • Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations
    • Hedrich K., Marder K., Harris J., et al. Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations. Neurology 58 (2002) 1239-1246
    • (2002) Neurology , vol.58 , pp. 1239-1246
    • Hedrich, K.1    Marder, K.2    Harris, J.3
  • 89
    • 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 114 (2002) 584-591
    • (2002) Am J Med Genet , vol.114 , pp. 584-591
    • West, A.1    Periquet, M.2    Lincoln, S.3
  • 90
    • 4444274910 scopus 로고    scopus 로고
    • PINK1 mutations are associated with sporadic early-onset parkinsonism
    • Valente E., Salvi S., Ialongo T., et al. PINK1 mutations are associated with sporadic early-onset parkinsonism. Ann Neurol 56 (2004) 336-341
    • (2004) Ann Neurol , vol.56 , pp. 336-341
    • Valente, E.1    Salvi, S.2    Ialongo, T.3
  • 91
    • 33750598457 scopus 로고    scopus 로고
    • A heterozygous effect for PINK1 mutations in Parkinson's disease?
    • Abou-Sleiman P., Muqit M., McDonald N., et al. A heterozygous effect for PINK1 mutations in Parkinson's disease?. Ann Neurol 60 (2006) 414-419
    • (2006) Ann Neurol , vol.60 , pp. 414-419
    • Abou-Sleiman, P.1    Muqit, M.2    McDonald, N.3
  • 92
    • 33644919942 scopus 로고    scopus 로고
    • Implications of genetics on the diagnosis and care of patients with Parkinson disease
    • Klein C. Implications of genetics on the diagnosis and care of patients with Parkinson disease. Arch Neurol 63 (2006) 328-334
    • (2006) Arch Neurol , vol.63 , pp. 328-334
    • Klein, C.1
  • 93
    • 33745091901 scopus 로고    scopus 로고
    • Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study
    • Sun M., Latourelle J., Wooten G., et al. Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study. Arch Neurol 63 (2006) 826-832
    • (2006) Arch Neurol , vol.63 , pp. 826-832
    • Sun, M.1    Latourelle, J.2    Wooten, G.3
  • 94
    • 0036828676 scopus 로고    scopus 로고
    • Relative high frequency of the c.255delA parkin gene mutation in Spanish patients with autosomal recessive parkinsonism
    • Munoz E., Tolosa E., Pastor P., et al. Relative high frequency of the c.255delA parkin gene mutation in Spanish patients with autosomal recessive parkinsonism. J Neurol Neurosurg Psychiatry 73 (2002) 582-584
    • (2002) J Neurol Neurosurg Psychiatry , vol.73 , pp. 582-584
    • Munoz, E.1    Tolosa, E.2    Pastor, P.3
  • 95
    • 33644965265 scopus 로고    scopus 로고
    • Co-occurrence of restless legs syndrome and Parkin mutations in two families
    • Adel S., Djarmati A., Kabakci K., et al. Co-occurrence of restless legs syndrome and Parkin mutations in two families. Mov Disord 21 (2006) 258-263
    • (2006) Mov Disord , vol.21 , pp. 258-263
    • Adel, S.1    Djarmati, A.2    Kabakci, K.3
  • 96
    • 1342347411 scopus 로고    scopus 로고
    • Parkin variants in North American Parkinson's disease: cases and controls
    • Lincoln S., Maraganore D., Lesnick T., et al. Parkin variants in North American Parkinson's disease: cases and controls. Mov Disord 18 (2003) 1306-1311
    • (2003) Mov Disord , vol.18 , pp. 1306-1311
    • Lincoln, S.1    Maraganore, D.2    Lesnick, T.3
  • 97
    • 33846833930 scopus 로고    scopus 로고
    • Heterozygous parkin point mutations are as common in control subjects as in Parkinson's patients
    • Kay D., Moran D., Moses L., et al. Heterozygous parkin point mutations are as common in control subjects as in Parkinson's patients. Ann Neurol 61 (2007) 47-54
    • (2007) Ann Neurol , vol.61 , pp. 47-54
    • Kay, D.1    Moran, D.2    Moses, L.3
  • 98
    • 33645728053 scopus 로고    scopus 로고
    • Case-control study of the parkin gene in early-onset Parkinson disease
    • Clark L., Afridi S., Karlins E., et al. Case-control study of the parkin gene in early-onset Parkinson disease. Arch Neurol 63 (2006) 548-552
    • (2006) Arch Neurol , vol.63 , pp. 548-552
    • Clark, L.1    Afridi, S.2    Karlins, E.3
  • 99
    • 0036229267 scopus 로고    scopus 로고
    • Role of parkin mutations in 111 community-based patients with early-onset parkinsonism
    • Kann M., Jacobs H., Mohrmann K., et al. Role of parkin mutations in 111 community-based patients with early-onset parkinsonism. Ann Neurol 51 (2002) 621-625
    • (2002) Ann Neurol , vol.51 , pp. 621-625
    • Kann, M.1    Jacobs, H.2    Mohrmann, K.3
  • 100
    • 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 50 (2001) 293-300
    • (2001) Ann Neurol , vol.50 , pp. 293-300
    • Farrer, M.1    Chan, P.2    Chen, R.3
  • 101
    • 20344400149 scopus 로고    scopus 로고
    • Parkin disease in a Brazilian kindred: manifesting heterozygotes and clinical follow-up over 10 years
    • Khan N., Horta W., Eunson L., et al. Parkin disease in a Brazilian kindred: manifesting heterozygotes and clinical follow-up over 10 years. Mov Disord 20 (2005) 479-484
    • (2005) Mov Disord , vol.20 , pp. 479-484
    • Khan, N.1    Horta, W.2    Eunson, L.3
  • 102
    • 33748351613 scopus 로고    scopus 로고
    • PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism
    • Criscuolo C., Volpe G., De Rosa A., et al. PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism. Mov Disord 21 (2006) 1265-1267
    • (2006) Mov Disord , vol.21 , pp. 1265-1267
    • Criscuolo, C.1    Volpe, G.2    De Rosa, A.3
  • 103
    • 33847745843 scopus 로고    scopus 로고
    • Phenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family
    • Hiller A., Hagenah J., Djarmati A., et al. Phenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family. Mov Disord 22 (2007) 145-147
    • (2007) Mov Disord , vol.22 , pp. 145-147
    • Hiller, A.1    Hagenah, J.2    Djarmati, A.3
  • 104
    • 2442451698 scopus 로고    scopus 로고
    • Clinical findings in a large family with a parkin ex3delta40 mutation
    • Munhoz R., Sa D., Rogaeva E., et al. Clinical findings in a large family with a parkin ex3delta40 mutation. Arch Neurol 61 (2004) 701-704
    • (2004) Arch Neurol , vol.61 , pp. 701-704
    • Munhoz, R.1    Sa, D.2    Rogaeva, E.3
  • 105
    • 33644653424 scopus 로고    scopus 로고
    • Early-onset Parkinson's disease caused by a novel parkin mutation in a genetic isolate from north-eastern Brazil
    • Chien H., Rohe C., Costa M., et al. Early-onset Parkinson's disease caused by a novel parkin mutation in a genetic isolate from north-eastern Brazil. Neurogenetics 7 (2006) 13-19
    • (2006) Neurogenetics , vol.7 , pp. 13-19
    • Chien, H.1    Rohe, C.2    Costa, M.3
  • 106
    • 33749608086 scopus 로고    scopus 로고
    • A T313M PINK1 mutation in an extended highly consanguineous Saudi family with early-onset parkinsonism
    • Chishti M., Bohlaga S., Ahmed M., et al. A T313M PINK1 mutation in an extended highly consanguineous Saudi family with early-onset parkinsonism. Arch Neurol 63 (2006) 1483-1485
    • (2006) Arch Neurol , vol.63 , pp. 1483-1485
    • Chishti, M.1    Bohlaga, S.2    Ahmed, M.3
  • 107
    • 12244262766 scopus 로고    scopus 로고
    • Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease
    • Foroud T., Uniacke S., Liu L., et al. Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease. Neurology 60 (2003) 796-801
    • (2003) Neurology , vol.60 , pp. 796-801
    • Foroud, T.1    Uniacke, S.2    Liu, L.3
  • 108
    • 33745087689 scopus 로고    scopus 로고
    • PINK1 protein in normal human brain and Parkinson's disease
    • Gandhi S., Muqit M., Stanyer L., et al. PINK1 protein in normal human brain and Parkinson's disease. Brain 129 (2006) 1720-1730
    • (2006) Brain , vol.129 , pp. 1720-1730
    • Gandhi, S.1    Muqit, M.2    Stanyer, L.3
  • 109
    • 33744760852 scopus 로고    scopus 로고
    • Association of PINK1 and DJ-1 confers digenic inheritance of early-onset Parkinson's disease
    • Tang B., Xiong H., Sun P., et al. Association of PINK1 and DJ-1 confers digenic inheritance of early-onset Parkinson's disease. Hum Mol Genet 15 (2006) 1816-1825
    • (2006) Hum Mol Genet , vol.15 , pp. 1816-1825
    • Tang, B.1    Xiong, H.2    Sun, P.3
  • 110
    • 0038054542 scopus 로고    scopus 로고
    • Muscular dystrophies: genes to pathogenesis
    • Dalkilic I., and Kunkel L. Muscular dystrophies: genes to pathogenesis. Curr Opin Genet Dev 13 (2003) 231-238
    • (2003) Curr Opin Genet Dev , vol.13 , pp. 231-238
    • Dalkilic, I.1    Kunkel, L.2
  • 111
    • 33746919083 scopus 로고    scopus 로고
    • Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
    • Baker M., Mackenzie I., Pickering-Brown S., et al. Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature 442 (2006) 916-919
    • (2006) Nature , vol.442 , pp. 916-919
    • Baker, M.1    Mackenzie, I.2    Pickering-Brown, S.3
  • 112
    • 0033801786 scopus 로고    scopus 로고
    • Dopa-responsive dystonia is induced by a dominant-negative mechanism
    • Hwu W., Chiou Y., Lai S., and Lee Y. Dopa-responsive dystonia is induced by a dominant-negative mechanism. Ann Neurol 48 (2000) 609-613
    • (2000) Ann Neurol , vol.48 , pp. 609-613
    • Hwu, W.1    Chiou, Y.2    Lai, S.3    Lee, Y.4
  • 113
    • 23844508427 scopus 로고    scopus 로고
    • Neurotoxicity and behavioral deficits associated with Septin 5 accumulation in dopaminergic neurons
    • Son J., Kawamata H., Yoo M., et al. Neurotoxicity and behavioral deficits associated with Septin 5 accumulation in dopaminergic neurons. J Neurochem 94 (2005) 1040-1053
    • (2005) J Neurochem , vol.94 , pp. 1040-1053
    • Son, J.1    Kawamata, H.2    Yoo, M.3
  • 114
    • 4744343655 scopus 로고    scopus 로고
    • Gaucher disease: complexity in a "simple" disorder
    • Sidransky E. Gaucher disease: complexity in a "simple" disorder. Mol Genet Metab 83 (2004) 6-15
    • (2004) Mol Genet Metab , vol.83 , pp. 6-15
    • Sidransky, E.1
  • 115
    • 0035096967 scopus 로고    scopus 로고
    • Positron emission tomographic analysis of the nigrostriatal dopaminergic system in familial parkinsonism associated with mutations in the parkin gene
    • Hilker R., Klein C., Ghaemi M., et al. Positron emission tomographic analysis of the nigrostriatal dopaminergic system in familial parkinsonism associated with mutations in the parkin gene. Ann Neurol 49 (2001) 367-376
    • (2001) Ann Neurol , vol.49 , pp. 367-376
    • Hilker, R.1    Klein, C.2    Ghaemi, M.3
  • 116
    • 0036895554 scopus 로고    scopus 로고
    • Clinical and subclinical dopaminergic dysfunction in PARK6-linked parkinsonism: an 18F-dopa PET study
    • Khan N., Valente E., Bentivoglio A., et al. Clinical and subclinical dopaminergic dysfunction in PARK6-linked parkinsonism: an 18F-dopa PET study. Ann Neurol 52 (2002) 849-853
    • (2002) Ann Neurol , vol.52 , pp. 849-853
    • Khan, N.1    Valente, E.2    Bentivoglio, A.3
  • 117
    • 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 323 (2002) 50-54
    • (2002) Neurosci Lett , vol.323 , pp. 50-54
    • Hilker, R.1    Klein, C.2    Hedrich, K.3
  • 119
    • 34250326855 scopus 로고    scopus 로고
    • Hagenah JM, Konig IR, Becker B, et al. Substantia nigra hyperechogenicity correlates with clinical status and number of Parkin mutated alleles. J Neurol (in press).
  • 120
    • 34250335788 scopus 로고    scopus 로고
    • Binkofski F, Reetz K, Gaser C, et al. Morphometric fingerprint of asymptomatic Parkin and PINK1 mutation carriers in the basal ganglia. Neurology (in press).
  • 121
    • 25444496106 scopus 로고    scopus 로고
    • Motor reorganization in asymptomatic carriers of a single mutant Parkin allele: a human model for presymptomatic parkinsonism
    • Buhmann C., Binkofski F., Klein C., et al. Motor reorganization in asymptomatic carriers of a single mutant Parkin allele: a human model for presymptomatic parkinsonism. Brain 128 (2005) 2281-2290
    • (2005) Brain , vol.128 , pp. 2281-2290
    • Buhmann, C.1    Binkofski, F.2    Klein, C.3
  • 122
    • 23244449831 scopus 로고    scopus 로고
    • Reduced amplitude of the sural nerve sensory action potential in PARK2 patients
    • Ohsawa Y., Kurokawa K., Sonoo M., et al. Reduced amplitude of the sural nerve sensory action potential in PARK2 patients. Neurology 65 (2005) 459-462
    • (2005) Neurology , vol.65 , pp. 459-462
    • Ohsawa, Y.1    Kurokawa, K.2    Sonoo, M.3
  • 123
    • 33748955694 scopus 로고    scopus 로고
    • Blink amplitude but not saccadic hypometria indicates carriers of Parkin mutations
    • Helmchen C., Schwekendiek A., Pramstaller P., Hedrich K., Klein C., and Rambold H. Blink amplitude but not saccadic hypometria indicates carriers of Parkin mutations. J Neurol 253 (2006) 1071-1075
    • (2006) J Neurol , vol.253 , pp. 1071-1075
    • Helmchen, C.1    Schwekendiek, A.2    Pramstaller, P.3    Hedrich, K.4    Klein, C.5    Rambold, H.6
  • 124
    • 33745314092 scopus 로고    scopus 로고
    • Genetics: what is a gene?
    • Pearson H. Genetics: what is a gene?. Nature 441 (2006) 398-401
    • (2006) Nature , vol.441 , pp. 398-401
    • Pearson, H.1
  • 125
    • 33846465545 scopus 로고    scopus 로고
    • Molecular markers of early Parkinson's disease based on gene expression in blood
    • Scherzer C., Eklund A., Morse L., et al. Molecular markers of early Parkinson's disease based on gene expression in blood. Proc Natl Acad Sci USA 104 (2007) 955-960
    • (2007) Proc Natl Acad Sci USA , vol.104 , pp. 955-960
    • Scherzer, C.1    Eklund, A.2    Morse, L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.