-
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, Dürr A, Bonifati V, De Michèle G, Bouley S, Vaughan JR, Gasser T, Marconi R, Broussolle E, Brefel-Courbon C, Harhangi BS, Oostra BA, Fabrizio E. Bohme GA, Pradier L, Wood NW, Filla A, Meco G, Deneile P, Agid Y, Brice A : 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
-
(1999)
Hum Mol Genet
, vol.8
, pp. 567-574
-
-
Abbas, N.1
Lucking, C.B.2
Ricard, S.3
Dürr, A.4
Bonifati, V.5
De Michèle, 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
Deneile, P.21
Agid, Y.22
Brice, A.23
more..
-
2
-
-
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
-
Hattori N, Kitaba T, Matsumine H, Asakawa S, Yamamtira Y, Yoshino H, Kobayashi T, Yokochi M, Wang M, Yoritaka A, Kondo T, Kuzuhara S, Nakamura S, Shimizu N, Mizuno Y : 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 44 : 935-941, 1998
-
(1998)
Ann Neurol
, vol.44
, pp. 935-941
-
-
Hattori, N.1
Kitaba, T.2
Matsumine, H.3
Asakawa, S.4
Yamamtira, 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
-
3
-
-
0032575607
-
Point mutations Thr240Arg and GlnSll Stop [correction of Thr240Arg and AlaSllStop] in the Parkin gene
-
Hattori N, Matsumine H, Asakawa S, Kitada T, Yoshino H, Flibol B, Brookes AJ, Yamamura Y, Kobayashi T, Wang M, Yoritaka A, Minoshima S, Shimizu N, Mizuno Y: Point mutations ( Thr240Arg and GlnSll Stop [correction of Thr240Arg and AlaSllStop] in the Parkin gene. Biochem Biophys Res Commun 249 : 754-758, 1998
-
(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
Flibol, 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
-
4
-
-
0030015934
-
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 47 : 160-166, 1996
-
(1996)
Neurology
, vol.47
, pp. 160-166
-
-
Ishikawa, A.1
Tsuji, S.2
-
5
-
-
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 : Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 392 : 605-608, 1998
-
(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
-
6
-
-
0032190090
-
The ubiquitin pathway in Parkinson's disease
-
Leroy E, Boyer R, Auburger G, Leube B, Ulm G, Mezey E, Harta G, Brownstein MJ, Jonnalagada S, Chernova T, Dehejia A, Lavedan C, Gasser T, Steinbach PJ, Wilkinson KD, Polymeropoulos MH : The ubiquitin pathway in Parkinson's disease. Nature 395 : 451-452, 1998
-
(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
-
7
-
-
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
-
Lucking CB, Abbas N, Dürr A, Bonifati V, Bonnet AM, de Broucker T, De Michèle G, Wood NW, Agid Y, Brice A : 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 352 :1355-1356, 1998
-
(1998)
Lancet
, vol.352
, pp. 1355-1356
-
-
Lucking, C.B.1
Abbas, N.2
Dürr, A.3
Bonifati, V.4
Bonnet, A.M.5
De Broucker, T.6
De Michèle, G.7
Wood, N.W.8
Agid, Y.9
Brice, A.10
-
8
-
-
16944362288
-
Localization of a gene for an autosomal recessive form of juvenile Parkinsonism to chromosome 6 q 25.2-27
-
Matsumine H, Saito M, Shimoda-Matsubayashi S, Tanaka H, Ishikawa A, Nakagawa-Hattori Y, Yokochi M, Kobayashi T, Igarashi S, Takano H, Sanpei K, Koike R, Mori H, Kondo T, Mizutani Y, Schaffer AA, Yamamura Y, Nakamura S, Kuzuhara S, Tsuji S, Mizuno Y : Localization of a gene for an autosomal recessive form of juvenile Parkinsonism to chromosome 6 q 25.2-27. Am J Hum Genet 60 : 588-596, 1997
-
(1997)
Am J Hum Genet
, vol.60
, pp. 588-596
-
-
Matsumine, H.1
Saito, M.2
Shimoda-Matsubayashi, S.3
Tanaka, H.4
Ishikawa, A.5
Nakagawa-Hattori, Y.6
Yokochi, M.7
Kobayashi, T.8
Igarashi, S.9
Takano, H.10
Sanpei, K.11
Koike, R.12
Mori, H.13
Kondo, T.14
Mizutani, Y.15
Schaffer, A.A.16
Yamamura, Y.17
Nakamura, S.18
Kuzuhara, S.19
Tsuji, S.20
Mizuno, Y.21
more..
-
9
-
-
33749923150
-
-
Japanese source
-
-
-
-
10
-
-
0030744876
-
Mutation in the alpha-synuclein gene identified in families with Parkinson's disease
-
Polymeropoulos MH, Lavedan C, Leroy E, Ide SE, Dehejia A, Dutra A, Pike B, Root H, Rubenstein J, Boyer R, Stenroos ES, Chandrasekharappa S, Athanassiadou A, Papapetropoulos T, Johnson WG, Lazzarini AM, Duvoisin RC, Di lorio G, Golbe LI, Nussbaum RL : Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science 276 : 2045-2047, 1997
-
(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 Lorio, G.18
Golbe, L.I.19
Nussbaum, R.L.20
more..
-
11
-
-
0015590978
-
Paralysis agitans of early onset with marked diurnal fluctuation of symptoms
-
Yamamura Y, Sobue I, Audo K, lida M, Yanagi T : Paralysis agitans of early onset with marked diurnal fluctuation of symptoms. Neurology 23 : 239-244, 1973
-
(1973)
Neurology
, vol.23
, pp. 239-244
-
-
Yamamura, Y.1
Sobue, I.2
Audo, K.3
Lida, M.4
Yanagi, T.5
-
12
-
-
33749973470
-
-
Japanese source
-
-
-
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