SCOPUS 정보 검색 플랫폼

Volumn 68, Issue 3, 2001, Pages 617-626

Origin of the mutations in the parkin gene in Europe: Exon rearrangements are independent recurrent events, whereas point mutations may result from founder effects

(48) Periquet, Magali a Lücking, Christoph B a Vaughan, Jenny R b Bonifati, Vincenzo c ürr, Alexandra a De Michele, Giuseppe d Horstink, Martin W e Farrer, Matt f Illarioshkin, Sergei N g Pollak, Pierre h Borg, Michel i Brefel Courbon, Christine j Denefle, Patrice k Gasser, T l,n Gasser, Thomas l Breteler, Monique M B m,n Wood, Nick W b,n Agid, Yves a,n Brice, Alexis a Bonnet, A M n more..

a PITIÉ SALPÊTRIÈRE HOSPITAL (France)

b UNIVERSITY COLLEGE LONDON (United Kingdom)

c SAPIENZA UNIVERSITY OF ROME (Italy)

d UNIVERSITY OF NAPLES FEDERICO II (Italy)

e RADBOUD UNIVERSITY MEDICAL CENTER (Netherlands)

f MAYO CLINIC (United States)

g RESEARCH CENTER OF NEUROLOGY (Russian Federation)

h GRENOBLE UNIVERSITY HOSPITAL (France)

i PASTEUR HOSPITAL (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA;

ARTICLE; EUROPE; EXON; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; NEUROLOGIC DISEASE; NUCLEOTIDE SEQUENCE; PARKINSONISM; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 0035092090 PISSN: 00029297 EISSN: None Source Type: Journal
DOI: 10.1086/318791 Document Type: Article

Times cited : (96)

References (32)

1
- 0345490853
- 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) Hum Mol Genet , vol.8 , pp. 567-574
- Abbas, N.¹ Lücking, C.B.² Ricard, S.³ Durr, A.⁴ Bonifati, V.⁵ De Michele, G.⁶ Bouley, S.⁷ Vaughan, J.R.⁸ Gasser, T.⁹ Marconi, R.¹⁰ Broussolle, E.¹¹ Brefel-Courbon, C.¹² Harhangi, B.S.¹³ Oostra, B.A.¹⁴ Fabrizio, E.¹⁵ Bohme, G.A.¹⁶ Pradier, L.¹⁷ Wood, N.W.¹⁸ Filla, A.¹⁹ Meco, G.²⁰ more..

2
- 0005702775
- Molecular analysis of the deletion breakpoints of parkin gene
- Am J Hum Genet Suppl
- (2000) Am J Hum Genet Suppl , vol.67 , pp. 398
- Asakawa, S.¹ Hattori, N.² Shintani, A.³ Sasaki, T.⁴ Kawasaki, K.⁵ Shimizu, A.⁶ Kitada, T.⁷ Matsumine, H.⁸ Minoshima, S.⁹ Shimizu, Y.¹⁰ Mizuno, Y.¹¹ Shimizu, N.¹²

3
- 0027509953
- DNA deletion associated with hereditary neuropathy with liability to pressure palsies
- Cell
- (1993) Cell , vol.72 , pp. 143-151
- Chance, P.F.¹ Alderson, M.K.² Leppig, K.A.³ Lensch, M.W.⁴ Matsunami, N.⁵ Smith, B.⁶ Swanson, P.D.⁷ Odelberg, S.J.⁸ Disteche, C.M.⁹ Bird, T.D.¹⁰

4
- 0008209418
- The genetics of Parkinson's disease
- Curr Opin Genet Dev
- (2000) Curr Opin Genet Dev , vol.10 , pp. 292-298
- De Silva, H.R.¹ Khan, N.L.² Wood, N.W.³

5
- 0032796376
- Alu repeats and human disease
- Mol Genet Metab
- (1999) Mol Genet Metab , vol.67 , pp. 183-193
- Deininger, P.L.¹ Batzer, M.A.²

6
- 0034023123
- Impact of transposable elements on the human genome
- Ann Med
- (2000) Ann Med , vol.32 , pp. 264-273
- Deragon, J.M.¹ Capy, P.²

7
- 0033016210
- Familial aggregation of Parkinson's disease: A population-based case-control study in Europe
- Europarkinson Study Group
- Neurology
- (1999) Neurology , vol.52 , pp. 1876-1882
- Elbaz, A.¹ Grigoletto, F.² Baldereschi, M.³ Breteler, M.M.⁴ Manubens-Bertran, J.M.⁵ Lopez-Pousa, S.⁶ Dartigues, J.F.⁷ Alperovitch, A.⁸ Tzourio, C.⁹ Rocca, W.A.¹⁰

8
- 0025954066
- Ageing and Parkinson's disease: Substantia nigra regional selectivity
- Brain
- (1991) Brain , vol.114 , pp. 2283-2301
- Fearnley, J.M.¹ Lees, A.J.²

9
- 18244412384
- 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) Ann Neurol , vol.44 , pp. 935-941
- Hattori, N.¹ Kitada, T.² Matsumine, H.³ Asakawa, S.⁴ Yamamura, Y.⁵ Yoshino, H.⁶ Kobayashi, T.⁷ Yokochi, M.⁸ Wang, M.⁹ Yoritaka, A.¹⁰ Kondo, T.¹¹ Kuzuhara, S.¹² Nakamura, S.¹³ Shimizu, N.¹⁴ Mizuno, Y.¹⁵

10
- 0032575607
- Point mutations (Thr240Arg and Gln311Stop [correction of Thr240Arg and Ala311Stop]) in the parkin gene
- Biochem Biophys Res Commun
- (1998) Biochem Biophys Res Commun , vol.249 , pp. 754-758
- Hattori, N.¹ Matsumine, H.² Asakawa, S.³ Kitada, T.⁴ Yoshino, H.⁵ Elibol, B.⁶ Brookes, A.J.⁷ Yamamura, Y.⁸ Kobayashi, T.⁹ Wang, M.¹⁰ Yoritaka, A.¹¹ Minoshima, S.¹² Shimizu, N.¹³ Mizuno, Y.¹⁴

11
- 0030015934
- Clinical analysis of 17 patients in 12 Japanese families with autosomal-recessive type juvenile parkinsonism
- Neurology
- (1996) Neurology , vol.47 , pp. 160-166
- Ishikawa, A.¹ Tsuji, S.²

12
- 0032499264
- Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
- Nature
- (1998) Nature , vol.392 , pp. 605-608
- Kitada, T.¹ Asakawa, S.² Hattori, N.³ Matsumine, H.⁴ Yamamura, Y.⁵ Minoshima, S.⁶ Yokochi, M.⁷ Mizuno, Y.⁸ Shimizu, N.⁹

13
- 0028810444
- Analysis of the CMT1A-REP repeat: Mapping crossover breakpoints in CMT1A and HNPP
- Hum Mol Genet
- (1995) Hum Mol Genet , vol.4 , pp. 2327-2334
- Kiyosawa, H.¹ Lensch, M.W.² Chance, P.F.³

14
- 0033933192
- Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: Expanding the phenotype
- Ann Neurol
- (2000) Ann Neurol , vol.48 , pp. 65-71
- Klein, C.¹ Pramstaller, P.P.² Kis, B.³ Page, C.C.⁴ Kann, M.⁵ Leung, J.⁶ Woodward, H.⁷ Castellan, C.C.⁸ Scherer, M.⁹ Vieregge, P.¹⁰ Breakefield, X.O.¹¹ Kramer, P.L.¹² Ozelius, L.J.¹³

15
- 0031753976
- Deletions in the parkin gene and genetic heterogeneity in a Greek family with early onset Parkinson's disease
- Hum Genet
- (1998) Hum Genet , vol.103 , pp. 424-427
- Leroy, E.¹ Anastasopoulos, D.² Konitsiotis, S.³ Lavedan, C.⁴ Polymeropoulos, M.H.⁵

16
- 0032190090
- The ubiquitin pathway in Parkinson's disease
- Nature
- (1998) Nature , vol.395 , pp. 451-452
- Leroy, E.¹ Boyer, R.² Auburger, G.³ Leube, B.⁴ Ulm, G.⁵ Mezey, E.⁶ Harta, G.⁷ Brownstein, M.J.⁸ Jonnalagada, S.⁹ Chernova, T.¹⁰ Dehejia, A.¹¹ Lavedan, C.¹² Gasser, T.¹³ Steinbach, P.J.¹⁴ Wilkinson, K.D.¹⁵ Polymeropoulos, M.H.¹⁶

17
- 6844239521
- Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences revolved in recombination
- Hum Mol Genet
- (1998) Hum Mol Genet , vol.7 , pp. 141-148
- Lopes, J.¹ Ravise, N.² Vandenberghe, A.³ Palau, F.⁴ Ionasescu, V.⁵ Mayer, M.⁶ Levy, N.⁷ Wood, N.⁸ Tachi, N.⁹ Bouche, P.¹⁰ Latour, P.¹¹ Ruberg, M.¹² Brice, A.¹³ LeGuern, E.¹⁴

18
- 0032695458
- Homologous DNA exchanges in humans can be explained by the yeast double-strand break repair model: A study of 17p11.2 rearrangements associated with CMT1A and HNPP
- Hum Mol Genet
- (1999) Hum Mol Genet , vol.8 , pp. 2285-2292
- Lopes, J.¹ Tardieu, S.² Silander, K.³ Blair, I.⁴ Vandenberghe, A.⁵ Palau, F.⁶ Ruberg, M.⁷ Brice, A.⁸ LeGuern, E.⁹

19
- 0032564235
- 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) Lancet , vol.352 , pp. 1355-1356
- Lücking, C.B.¹ Abbas, N.² Durr, A.³ Bonifati, V.⁴ Bonnet, A.M.⁵ De Broucker, T.⁶ De Michele, G.⁷ Wood, N.W.⁸ Agid, Y.⁹ Brice, A.¹⁰

20
- 0342368772
- 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) N Engl J Med , vol.342 , pp. 1560-1567
- Lücking, C.B.¹ Durr, A.² Bonifati, V.³ Vaughan, J.⁴ De Michele, G.⁵ Gasser, T.⁶ Harhangi, B.S.⁷ Meco, G.⁸ Denefle, P.⁹ Wood, N.W.¹⁰ Agid, Y.¹¹ Brice, A.¹²

21
- 0025868571
- DNA duplication associated with Charcot-Marie-Tooth disease type 1A
- Cell
- (1991) Cell , vol.66 , pp. 219-232
- Lupski, J.R.¹ De Oca-Luna, R.M.² Slaugenhaupt, S.³ Pentao, L.⁴ Guzzetta, V.⁵ Trask, B.J.⁶ Saucedo-Cardenas, O.⁷ Barker, D.F.⁸ Killian, J.M.⁹ Garcia, C.A.¹⁰

22
- 0033868381
- Novel mutations, pseudo-dominant inheritance, and possible familial effects in patients with autosomal recessive juvenile parkinsonism
- Ann Neurol
- (2000) Ann Neurol , vol.48 , pp. 245-250
- Maruyama, M.¹ Ikeuchi, T.² Saito, M.³ Ishikawa, A.⁴ Yuasa, T.⁵ Tanaka, H.⁶ Hayashi, S.⁷ Wakabayashi, K.⁸ Takahashi, H.⁹ Tsuji, S.¹⁰

23
- 0031721141
- Pathologic and biochemical studies of juvenile parkinsonism linked to chromosome 6q
- Neurology
- (1998) Neurology , vol.51 , pp. 890-892
- Mori, H.¹ Kondo, T.² Yokochi, M.³ Matsumine, H.⁴ Nakagawa-Hattori, Y.⁵ Miyake, T.⁶ Suda, K.⁷ Mizuno, Y.⁸

24
- 0343517605
- A new mutation in the parkin gene in a patient with atypical autosomal recessive juvenile parkinsonism
- Neurosci Lett
- (2000) Neurosci Lett , vol.289 , pp. 66-68
- Muñoz, E.¹ Pastor, P.² Marti, M.J.³ Oliva, R.⁴ Tolosa, E.⁵

25
- 0023647951
- Recombination at the human alpha-globin gene cluster: Sequence features and topological constraints
- Cell
- (1987) Cell , vol.49 , pp. 369-378
- Nicholls, R.D.¹ Fischel-Ghodsian, N.² Higgs, D.R.³

26
- 0030744876
- Mutation in the alpha-synuclein gene identified in families with Parkinson's disease
- Science
- (1997) Science , vol.276 , pp. 2045-2047
- Polymeropoulos, M.H.¹ Lavedan, C.² Leroy, E.³ Ide, S.E.⁴ Dehejia, A.⁵ Dutra, A.⁶ Pike, B.⁷ Root, H.⁸ Rubenstein, J.⁹ Boyer, R.¹⁰ Stenroos, E.S.¹¹ Chandrasekharappa, S.¹² Athanassiadou, A.¹³ Papapetropoulos, T.¹⁴ Johnson, W.G.¹⁵ Lazzarini, A.M.¹⁶ Duvoisin, R.C.¹⁷ Di Iorio, G.¹⁸ Golbe, L.I.¹⁹ Nussbaum, R.L.²⁰ more..

27
- 0033401987
- Multiple origins of the spinocerebellar ataxia 7 (SCA7) mutation revealed by linkage disequilibrium studies with closely flanking markers, including an intragenic polymorphism (G3145TG/A3145TG)
- Eur J Hum Genet
- (1999) Eur J Hum Genet , vol.7 , pp. 889-896
- Stevanin, G.¹ David, G.² Durr, A.³ Giunti, P.⁴ Benomar, A.⁵ Abada-Bendib, M.⁶ Lee, M.S.⁷ Agid, Y.⁸ Brice, A.⁹

28
- 0028198309
- Familial juvenile parkinsonism: Clinical and pathologic study in a family
- Neurology
- (1994) Neurology , vol.44 , pp. 437-441
- Takahashi, H.¹ Ohama, E.² Suzuki, S.³ Horikawa, Y.⁴ Ishikawa, A.⁵ Morita, T.⁶ Tsuji, S.⁷ Ikuta, F.⁸

29
- 1642618076
- 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) Am J Hum Genet , vol.63 , pp. 88-94
- Tassin, J.¹ Durr, A.² De Broucker, T.³ Abbas, N.⁴ Bonifati, V.⁵ De Michele, G.⁶ Bonnet, A.M.⁷ Broussolle, E.⁸ Pollak, P.⁹ Vidailhet, M.¹⁰ De Mari, M.¹¹ Marconi, R.¹² Medjbeur, S.¹³ Filla, A.¹⁴ Meco, G.¹⁵ Agid, Y.¹⁶ Brice, A.¹⁷

30
- 85003761834
- Parkinsonism associated with parkin gene mutations: Clinical and pathological abnormalities in a Dutch family
- in press
- Neurology
- Neurology
- Van de Warrenburg, B.P.C.¹ Lammens, M.² Lücking, C.B.³ Denefle, P.⁴ Wesseling, P.⁵ Booij, J.⁶ Praamstra, P.⁷ Quinn, N.⁸ Brice, A.⁹ Horstink, M.W.I.M.¹⁰

31
- 0033849550
- Autosomal recessive early-onset parkinsonism with diurnal fluctuation: Clinicopathologic characteristics and molecular genetic identification
- Brain Dev (Suppl)
- (2000) Brain Dev (Suppl) , vol.22 , pp. 87-91
- Yamamura, Y.¹ Hattori, N.² Matsumine, H.³ Kuzuhara, S.⁴ Mizuno, Y.⁵

32
- 0025280088
- Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements
- Cell
- (1990) Cell , vol.61 , pp. 603-610
- Yen, P.H.¹ Li, X.M.² Tsai, S.P.³ Johnson, C.⁴ Mohandas, T.⁵ Shapiro, L.J.⁶

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.