-
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
-
Abbas N, Lucking CB, Ricard S, Durr A, Bonifati V, De Michele G, Bouley S, Vaughan JR, Gasser T, Marconi R, Broussolle E, Brefel-Courbon C, Harhangi BS, Oostra BA, Fabriziio E, Bohme GA, Pradier L, Wood NW, Filla A, Meco G, Denefle P, Agid Y, Brice A. 1999. 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 8:567-574.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 567-574
-
-
Abbas, N.1
Lucking, 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
Fabriziio, E.15
Bohme, G.A.16
Pradier, L.17
Wood, N.W.18
Filla, A.19
Meco, G.20
Denefle, P.21
Agid, Y.22
Brice, A.23
more..
-
2
-
-
0042522482
-
Characterization of FRA6E and its potential role in autosomal recessive juvenile parkinsonism and ovarian cancer
-
Denison SR, Callahan G, Becker NA, Phillips LA, Smith DI. 2003. Characterization of FRA6E and its potential role in autosomal recessive juvenile parkinsonism and ovarian cancer. Genes Chromosomes Cancer 38:40-52.
-
(2003)
Genes Chromosomes Cancer
, vol.38
, pp. 40-52
-
-
Denison, S.R.1
Callahan, G.2
Becker, N.A.3
Phillips, L.A.4
Smith, D.I.5
-
3
-
-
4344683591
-
A consanguineous Turkish family with early-onset Parkinson's disease and an exon 4 parkin deletion
-
Dogu O, Johnson J, Hernandez D, Hanson M, Hardy J, Apaydin H, Özekmekei S, Sevim S, Gwinn-Hardy K, Singleton A. 2004. A consanguineous Turkish family with early-onset Parkinson's disease and an exon 4 parkin deletion. Mov Dis 9:812-816.
-
(2004)
Mov Dis
, vol.9
, pp. 812-816
-
-
Dogu, O.1
Johnson, J.2
Hernandez, D.3
Hanson, M.4
Hardy, J.5
Apaydin, H.6
Özekmekei, S.7
Sevim, S.8
Gwinn-Hardy, K.9
Singleton, A.10
-
4
-
-
0035487212
-
Segmental duplications: An 'expanding' role in genomic instability and disease
-
Emanuel BS, Shaikh TH. 2001. Segmental duplications: An 'expanding' role in genomic instability and disease. Nat Rev Genet 2(10):791-800.
-
(2001)
Nat Rev Genet
, vol.2
, Issue.10
, pp. 791-800
-
-
Emanuel, B.S.1
Shaikh, T.H.2
-
5
-
-
0023887031
-
Accuracy in the clinical diagnosis of parkinsonian syndromes
-
Gibb WR. 1988. Accuracy in the clinical diagnosis of parkinsonian syndromes. Postgrad Med J 64:345-351.
-
(1988)
Postgrad Med J
, vol.64
, pp. 345-351
-
-
Gibb, W.R.1
-
7
-
-
0036229267
-
Role of parkin mutations in 111 community-based patients with early-onset parkinsonism
-
Kann M, Jacobs H, Mohrmann K, Schumacher K, Hedrich K, Garrels J, Wiegers K, Schwinger E, Pramstaller PP, Breakefield XO, Ozelius LJ, Vieregge P, Klein C. 2002. Role of parkin mutations in 111 community-based patients with early-onset parkinsonism. Ann Neurol 51:621-625.
-
(2002)
Ann Neurol
, vol.51
, pp. 621-625
-
-
Kann, M.1
Jacobs, H.2
Mohrmann, K.3
Schumacher, K.4
Hedrich, K.5
Garrels, J.6
Wiegers, K.7
Schwinger, E.8
Pramstaller, P.P.9
Breakefield, X.O.10
Ozelius, L.J.11
Vieregge, P.12
Klein, C.13
-
8
-
-
0032499264
-
Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
-
Kitada T, Asakawa S, Hattori N, Matsumine H, Yamamura Y, Minoshima S, Yokochi M, Mizuno Y, Shimizu N. 1998. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 392:605-608.
-
(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
-
9
-
-
0342368772
-
Association between early-onset Parkinson's disease and mutations in the parkin gene
-
French Parkinson's Disease Genetics Study Group
-
Lucking CB, Durr A, Bonifati V, Vaughan J, De Michele G, Gasser T, Harhangi BS, Meco G, Denefle P, Wood NW, Agid Y, Brice A. 2000. Association between early-onset Parkinson's disease and mutations in the parkin gene. French Parkinson's Disease Genetics Study Group. N Engl J Med 342:1560-1567.
-
(2000)
N Engl J Med
, vol.342
, pp. 1560-1567
-
-
Lucking, 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
-
10
-
-
0036091503
-
Familial aggregation of Parkinson disease: A comparative study of early-onset and late-onset disease
-
Payami H, Zareparsi S, James D, Nutt J. 2002. Familial aggregation of Parkinson disease: A comparative study of early-onset and late-onset disease. Arch Neurol 59:848-850.
-
(2002)
Arch Neurol
, vol.59
, pp. 848-850
-
-
Payami, H.1
Zareparsi, S.2
James, D.3
Nutt, J.4
-
11
-
-
0035092090
-
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, Lucking C, Vaughan J, Bonifati V, Durr A, De Michele G, Horstink M, Farrer M, Illarioshkin SN, Pollak P, Borg M, Brefel-Courbon C, Denefle P, Meco G, Gasser T, Breteler MM, Wood N, Agid Y, Brice A. 2001. 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 68:617-626.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 617-626
-
-
Periquet, M.1
Lucking, C.2
Vaughan, J.3
Bonifati, V.4
Durr, A.5
De Michele, G.6
Horstink, M.7
Farrer, M.8
Illarioshkin, S.N.9
Pollak, P.10
Borg, M.11
Brefel-Courbon, C.12
Denefle, P.13
Meco, G.14
Gasser, T.15
Breteler, M.M.16
Wood, N.17
Agid, Y.18
Brice, A.19
-
12
-
-
0031963434
-
Common fragile sites and cancer
-
Smith DI, Huang H, Wang L. 1998. Common fragile sites and cancer (review). Int J Oncol 12:187-196.
-
(1998)
Int J Oncol
, vol.12
, pp. 187-196
-
-
Smith, D.I.1
Huang, H.2
Wang, L.3
-
13
-
-
0034649710
-
Familial aggregation of Parkinson's disease in Iceland
-
Sveinbjornsdottir S, Hicks AA, Jonsson T, Petursson H, Gugmundsson G, Frigge ML, Kong A, Gulcher JR, Stefansson K. 2000. Familial aggregation of Parkinson's disease in Iceland. N Engl J Med 343:1765-1770.
-
(2000)
N Engl J Med
, vol.343
, pp. 1765-1770
-
-
Sveinbjornsdottir, S.1
Hicks, A.A.2
Jonsson, T.3
Petursson, H.4
Gugmundsson, G.5
Frigge, M.L.6
Kong, A.7
Gulcher, J.R.8
Stefansson, K.9
-
14
-
-
1542285483
-
Genetics of parkin-linked disease
-
DOI: 10.1007/s00439-003-1074-1076
-
West AB, Maidment NT. 2004. Genetics of parkin-linked disease. Hum Genet. Hum Genet DOI: 10.1007/s00439-003-1074-1076.
-
(2004)
Hum Genet Hum Genet
-
-
West, A.B.1
Maidment, N.T.2
|