-
1
-
-
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 1998, 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
-
2
-
-
12244283716
-
Pseudo-autosomal dominant inheritance of PARK2: Two families with parkin gene mutations
-
Kobayashi T, Matsumine H, Zhang J, Imamichi Y, Mizuno Y, Hattori N: Pseudo-autosomal dominant inheritance of PARK2: two families with parkin gene mutations. J Neurol Sci 2003, 207:11-17.
-
(2003)
J. Neurol. Sci.
, vol.207
, pp. 11-17
-
-
Kobayashi, T.1
Matsumine, H.2
Zhang, J.3
Imamichi, Y.4
Mizuno, Y.5
Hattori, N.6
-
3
-
-
0035845715
-
Pseudo-dominant inheritance and exon 2 triplication in a family with parkin gene mutations
-
Lucking CB, Bonifati V, Periquet M, Vanacore N, Brice A, Meco G: 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
-
-
Lucking, C.B.1
Bonifati, V.2
Periquet, M.3
Vanacore, N.4
Brice, A.5
Meco, G.6
-
4
-
-
0033868381
-
Novel mutations, pseudo-dominant inheritance, and possible familial affects in patients with autosomal recessive juvenile parkinsonism
-
Maruyama M, Ikeuchi T, Saito M, Ishikawa A, Yuasa T, Tanaka H, Hayashi S, Wakabayashi K, Takahashi H, Tsuji S: 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
Ishikawa, A.4
Yuasa, T.5
Tanaka, H.6
Hayashi, S.7
Wakabayashi, K.8
Takahashi, H.9
Tsuji, S.10
-
5
-
-
0033933192
-
Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: Expanding the phenotype
-
Klein C, Pramstaller PP, Kis B, Page CC, Kann M, Leung J, Woodward H, Castellan CC, Scherer M, Vieregge P, Breakefield XO, Kramer PL, Ozelius LJ: 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
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
-
6
-
-
0034848395
-
Lewy bodies and parkinsonism in families with parkin mutations
-
Farrer M, Chan P, Chen R, Tan L, Lincoln S, Hernandez D, Forno L, Gwinn-Hardy K, Petrucelli L, Hussey J, Singleton A, Tanner C, Hardy J, Langston JW: 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
Tan, L.4
Lincoln, S.5
Hernandez, D.6
Forno, L.7
Gwinn-Hardy, K.8
Petrucelli, L.9
Hussey, J.10
Singleton, A.11
Tanner, C.12
Hardy, J.13
Langston, J.W.14
-
7
-
-
0037161261
-
Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations
-
Hedrich K, Marder K, Harris J, Kann M, Lynch T, Meija-Santana H, Pramstaller PP, Schwinger E, Bressman SB, Fahn S, Klein C: Evaluation of 50 probands 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
Kann, M.4
Lynch, T.5
Meija-Santana, H.6
Pramstaller, P.P.7
Schwinger, E.8
Bressman, S.B.9
Fahn, S.10
Klein, C.11
-
8
-
-
18444398035
-
Complex relationship between Parkin mutations and Parkinson disease
-
West A, Periquet M, Lincoln S, Lucking CB, Nicholl D, Bonifati V, Rawal N, Gasser T, Lohmann E, Deleuze JF, Maraganore D, Levey A, Wood N, Durr A, Hardy J, Brice A, Farrer M: 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
Lucking, C.B.4
Nicholl, D.5
Bonifati, V.6
Rawal, N.7
Gasser, T.8
Lohmann, E.9
Deleuze, J.F.10
Maraganore, D.11
Levey, A.12
Wood, N.13
Durr, A.14
Hardy, J.15
Brice, A.16
Farrer, M.17
-
9
-
-
0038754178
-
Parkin mutations and susceptibility alleles in lateonset Parkinson's disease
-
Oliveira SA, Scott WK, Martin ER, Nance MA, Watts RL, Hubble JP, Koller WC, Pahwa R, Stern MB, Hiner BC, Ondo WG, Allen FHJ, Scott BL, Goetz CG, Small GW, Mastaglia F, Stajich JM, Zhang F, Booze MW, Winn MP, Middleton LT, Haines JL, Pericak-Vance MA, Vance JM: Parkin mutations and susceptibility alleles in lateonset Parkinson's disease. Ann Neurol 2003, 53:624-629.
-
(2003)
Ann. Neurol.
, vol.53
, pp. 624-629
-
-
Oliveira, S.A.1
Scott, W.K.2
Martin, E.R.3
Nance, M.A.4
Watts, R.L.5
Hubble, J.P.6
Koller, W.C.7
Pahwa, R.8
Stern, M.B.9
Hiner, B.C.10
Ondo, W.G.11
Allen, F.H.J.12
Scott, B.L.13
Goetz, C.G.14
Small, G.W.15
Mastaglia, F.16
Stajich, J.M.17
Zhang, F.18
Booze, M.W.19
Winn, M.P.20
Middleton, L.T.21
Haines, J.L.22
Pericak-Vance, M.A.23
Vance, J.M.24
more..
-
10
-
-
12244262766
-
Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease
-
Foroud T, Uniacke SK, Liu L, Pankratz N, Rudolph A, Halter C, Shults C, Marder K, Conneally PM, Nichols WC: Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease. Neurology 2003, 60:796-801.
-
(2003)
Neurology
, vol.60
, pp. 796-801
-
-
Foroud, T.1
Uniacke, S.K.2
Liu, L.3
Pankratz, N.4
Rudolph, A.5
Halter, C.6
Shults, C.7
Marder, K.8
Conneally, P.M.9
Nichols, W.C.10
-
11
-
-
0027970947
-
Anticipation of onset age in familial Parkinson's disease
-
Bonifati V, Vanacore N, Meco G: Anticipation of onset age in familial Parkinson's disease. Neurology 1994, 44:1978-1979.
-
(1994)
Neurology
, vol.44
, pp. 1978-1979
-
-
Bonifati, V.1
Vanacore, N.2
Meco, G.3
-
12
-
-
0028869758
-
Genetic anticipation in Parkinson's disease
-
Payami H, Bernard S, Larsen K, Kaye J, Nutt J: Genetic anticipation in Parkinson's disease. Neurology 1995, 45:135-138.
-
(1995)
Neurology
, vol.45
, pp. 135-138
-
-
Payami, H.1
Bernard, S.2
Larsen, K.3
Kaye, J.4
Nutt, J.5
-
13
-
-
0029090839
-
A Greek-American kindred with autosomal dominant, levodopa-responsive parkinsonism and anticipation
-
Markopoulou K, Wszolek ZK, Pfeiffer RF: A Greek-American kindred with autosomal dominant, levodopa-responsive parkinsonism and anticipation. Ann Neurol 1995, 38:373-378.
-
(1995)
Ann. Neurol.
, vol.38
, pp. 373-378
-
-
Markopoulou, K.1
Wszolek, Z.K.2
Pfeiffer, R.F.3
-
14
-
-
0034718577
-
Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese
-
Gwinn-Hardy K, Chen JY, Liu H, Liu TY, Boss M, Seltzer W, Adam A, Singleton A, Koroshetz W, Waters C, Hardy J, Farrer M: Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese. Neurology 2000, 55:800-805.
-
(2000)
Neurology
, vol.55
, pp. 800-805
-
-
Gwinn-Hardy, K.1
Chen, J.Y.2
Liu, H.3
Liu, T.Y.4
Boss, M.5
Seltzer, W.6
Adam, A.7
Singleton, A.8
Koroshetz, W.9
Waters, C.10
Hardy, J.11
Farrer, M.12
-
15
-
-
0037732858
-
SCA2 may present as levodopa-responsive parkinsonism
-
Payami H, Nutt J, Gancher S, Bird T, McNeal MG, Seltzer WK, Hussey J, Lockhart P, Gwinn-Hardy K, Singleton AA, Singleton AB, Hardy J, Farrer M: SCA2 may present as levodopa-responsive parkinsonism. Mov Disord 2003, 18:425-429.
-
(2003)
Mov. Disord.
, vol.18
, pp. 425-429
-
-
Payami, H.1
Nutt, J.2
Gancher, S.3
Bird, T.4
McNeal, M.G.5
Seltzer, W.K.6
Hussey, J.7
Lockhart, P.8
Gwinn-Hardy, K.9
Singleton, A.A.10
Singleton, A.B.11
Hardy, J.12
Farrer, M.13
-
16
-
-
0035199626
-
Spinocerebellar ataxia type 2 presenting as familial levodopa-responsive parkinsonism
-
Shan DE, Soong BW, Sun CM, Lee SJ, Liao KK, Liu RS: Spinocerebellar ataxia type 2 presenting as familial levodopa-responsive parkinsonism. Ann Neurol 2001, 50:812-815.
-
(2001)
Ann. Neurol.
, vol.50
, pp. 812-815
-
-
Shan, D.E.1
Soong, B.W.2
Sun, C.M.3
Lee, S.J.4
Liao, K.K.5
Liu, R.S.6
-
17
-
-
0026514953
-
Accuracy of clinical diagnosis of idiopathic Parkinson's disease: A clinico-pathological study of 100 cases
-
Hughes AJ, Daniel SE, Kilford L, Lees AJ: Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. J Neurol Neurosurg Psychiatry 1992, 55:181-184.
-
(1992)
J. Neurol. Neurosurg. Psychiatry
, vol.55
, pp. 181-184
-
-
Hughes, A.J.1
Daniel, S.E.2
Kilford, L.3
Lees, A.J.4
-
18
-
-
0036790781
-
Familial dementia with lewy bodies: A clinical and neuropathological study of 2 families
-
Tsuang DW, Dalan AM, Eugenio CJ, Poorkaj P, Limprasert P, La Spada AR, Steinbart EJ, Bird TD, Leverenz JB: Familial dementia with lewy bodies: a clinical and neuropathological study of 2 families. Arch Neurol 2002, 59:1622-1630.
-
(2002)
Arch. Neurol.
, vol.59
, pp. 1622-1630
-
-
Tsuang, D.W.1
Dalan, A.M.2
Eugenio, C.J.3
Poorkaj, P.4
Limprasert, P.5
La Spada, A.R.6
Steinbart, E.J.7
Bird, T.D.8
Leverenz, J.B.9
-
19
-
-
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: 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
-
-
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
-
20
-
-
1342347411
-
Parkin variants in North American Parkinson's disease: Cases and controls
-
Lincoln SJ, Maraganore DM, Lesnick TG, Bounds R, de Andrade M, Bower JH, Hardy JA, Farrer MJ: Parkin variants in North American Parkinson's disease: cases and controls. Mov Disord 2003, 18:1306-1311.
-
(2003)
Mov. Disord.
, vol.18
, pp. 1306-1311
-
-
Lincoln, S.J.1
Maraganore, D.M.2
Lesnick, T.G.3
Bounds, R.4
de Andrade, M.5
Bower, J.H.6
Hardy, J.A.7
Farrer, M.J.8
-
21
-
-
18044399423
-
The parkin gene is not a major susceptibility locus for typical lateonset Parkinson's disease
-
Oliveri RL, Zappia M, Annesi G, Annesi F, Spadafora P, Pasqua AA, Tomaino C, Nicoletti G, Bosco D, Messina D, Logroscino G, Manobianca G, Epifanio A, Morgante L, Savettieri G, Quattrone A: The parkin gene is not a major susceptibility locus for typical lateonset Parkinson's disease. Neurol Sci 2001, 22:73-74.
-
(2001)
Neurol. Sci.
, vol.22
, pp. 73-74
-
-
Oliveri, R.L.1
Zappia, M.2
Annesi, G.3
Annesi, F.4
Spadafora, P.5
Pasqua, A.A.6
Tomaino, C.7
Nicoletti, G.8
Bosco, D.9
Messina, D.10
Logroscino, G.11
Manobianca, G.12
Epifanio, A.13
Morgante, L.14
Savettieri, G.15
Quattrone, A.16
|