-
1
-
-
33749133430
-
Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase
-
DOI 10.1038/ng1884, PII NG1884
-
Ramirez A, Heimbach A, Gründemann J, et al. Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. Nat Genet 2006;38:1184-1191. (Pubitemid 44470365)
-
(2006)
Nature Genetics
, vol.38
, Issue.10
, pp. 1184-1191
-
-
Ramirez, A.1
Heimbach, A.2
Grundemann, J.3
Stiller, B.4
Hampshire, D.5
Cid, L.P.6
Goebel, I.7
Mubaidin, A.F.8
Wriekat, A.-L.9
Roeper, J.10
Al-Din, A.11
Hillmer, A.M.12
Karsak, M.13
Liss, B.14
Woods, C.G.15
Behrens, M.I.16
Kubisch, C.17
-
2
-
-
0032499264
-
Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
-
DOI 10.1038/33416
-
Kitada T, Asakawa S, Hattori N, et al. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 1998;392:605-608. (Pubitemid 28207717)
-
(1998)
Nature
, vol.392
, Issue.6676
, 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
-
3
-
-
2442668926
-
Hereditary early-onset Parkinson's disease caused by mutations in PINK1
-
DOI 10.1126/science.1096284
-
Valente EM, Abou-Sleiman PM, Caputo V, et al. Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science 2004;304:1158-1160. (Pubitemid 38661852)
-
(2004)
Science
, vol.304
, Issue.5674
, pp. 1158-1160
-
-
Valente, E.M.1
Abou-Sleiman, P.M.2
Caputo, V.3
Muqit, M.M.K.4
Harvey, K.5
Gispert, S.6
Ali, Z.7
Del Turco, D.8
Bentivoglio, A.R.9
Healy, D.G.10
Albanese, A.11
Nussbaum, R.12
Gonzalez-Maldonado, R.13
Deller, T.14
Salvi, S.15
Cortelli, P.16
Gilks, W.P.17
Latchman, D.S.18
Harvey, R.J.19
Dallapiccola, B.20
Auburger, G.21
Wood, N.W.22
more..
-
4
-
-
0037428241
-
Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism
-
DOI 10.1126/science.1077209
-
Bonifati V, Rizzu P, van Baren MJ, et al. Mutation in DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science 2003;299:256-259. (Pubitemid 36131051)
-
(2003)
Science
, vol.299
, Issue.5604
, pp. 256-259
-
-
Bonifati, V.1
Rizzu, P.2
Van Baren, M.J.3
Schaap, O.4
Breedveld, G.J.5
Krieger, E.6
Dekker, M.C.J.7
Squitieri, F.8
Ibanez, P.9
Joosse, M.10
Van Dongen, J.W.11
Vanacore, N.12
Van Swieten, J.C.13
Brice, A.14
Meco, G.15
Van Duijn, C.M.16
Oostra, B.A.17
Heutink, P.18
-
5
-
-
34248182509
-
ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease
-
DOI 10.1212/01.wnl.0000260963.08711.08, PII 0000611420070508000003
-
Di Fonzo A, Chien HF, Socal M, et al. ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease. Neurology 2007;68:1557-1562. (Pubitemid 46717978)
-
(2007)
Neurology
, vol.68
, Issue.19
, pp. 1557-1562
-
-
Di Fonzo, A.1
Chien, H.F.2
Socal, M.3
Giraudo, S.4
Tassorelli, C.5
Iliceto, G.6
Fabbrini, G.7
Marconi, R.8
Fincati, E.9
Abbruzzese, G.10
Marini, P.11
Squitieri, F.12
Horstink, M.W.13
Montagna, P.14
Libera, A.D.15
Stocchi, F.16
Goldwurm, S.17
Ferreira, J.J.18
Meco, G.19
Martignoni, E.20
Lopiano, L.21
Jardim, L.B.22
Oostra, B.A.23
Barbosa, E.R.24
Bonifati, V.25
Bonifati, V.26
Vanacore, N.27
Meco, G.28
Fabbrini, G.29
Fabrizio, E.30
Locuratolo, N.31
Scoppetta, C.32
Manfredi, M.33
Berardelli, A.34
Lopiano, L.35
Giraudo, S.36
Bergamasco, B.37
Tassorelli, C.38
Pacchetti, C.39
Nappi, G.40
Goldwurm, S.41
Antonini, A.42
Pezzoli, G.43
Riboldazzi, G.44
Bono, G.45
Raudino, F.46
Manfredi, Mi.47
Fincati, E.48
Tinazzi, M.49
Bonizzato, A.50
Ferracci, C.51
Dalla Libera, A.52
Abbruzzese, G.53
Marchese, R.54
Montagna, P.55
Marini, P.56
Massaro, F.57
Marconi, R.58
Guidi, M.59
Minardi, C.60
Rasi, F.61
Onofrj, M.62
Thomas, A.63
Stocchi, F.64
Vacca, L.65
De Pandis, F.66
De Mari, M.67
Diroma, C.68
Iliceto, G.69
Lamberti, P.70
Toni, V.71
Trianni, G.72
Mauro, A.73
De Gaetano, A.74
Rizzo, M.75
Cossu, G.76
Rieder, C.R.M.77
Saraiva-Pereira, M.L.78
more..
-
6
-
-
33750282266
-
Heterozygous PINK1 mutations: A susceptibility factor for Parkinson disease?
-
Djarmati A, Hedrich K, Svetel M, et al. Heterozygous PINK1 mutations: a susceptibility factor for Parkinson disease? Mov Disord 2006;21:1526-1530.
-
(2006)
Mov Disord
, vol.21
, pp. 1526-1530
-
-
Djarmati, A.1
Hedrich, K.2
Svetel, M.3
-
7
-
-
34250372427
-
Deciphering the role of heterozygous mutations in genes associated with parkinsonism
-
DOI 10.1016/S1474-4422(07)70174-6, PII S1474442207701746
-
Klein C, Lohmann-Hedrich K, Rogaeva E, Schlossmacher MG, Lang AE. Deciphering the role of heterozygous mutations in genes associated with parkinsonism. Lancet Neurol 2007;6:652-662. (Pubitemid 46921058)
-
(2007)
Lancet Neurology
, vol.6
, Issue.7
, pp. 652-662
-
-
Klein, C.1
Lohmann-Hedrich, K.2
Rogaeva, E.3
Schlossmacher, M.G.4
Lang, A.E.5
-
8
-
-
42049103656
-
PARK9-linked parkinsonism in eastern Asia: Mutation detection in ATP13A2 and clinical phenotype
-
Ning YP, Kanai K, Tomiyama H, et al. PARK9-linked parkinsonism in eastern Asia: mutation detection in ATP13A2 and clinical phenotype. Neurology 2008;70:1491-1493.
-
(2008)
Neurology
, vol.70
, pp. 1491-1493
-
-
Ning, Y.P.1
Kanai, K.2
Tomiyama, H.3
-
9
-
-
0035241245
-
Neuroimaging in basal ganglia disorders: Perspectives for transcranial ultrasound
-
DOI 10.1002/1531-8257(200101)16:1<23::AID-MDS1003>3.0.CO;2-2
-
Becker G, Berg D. Neuroimaging in basal ganglia disorder: perspectives for transcranial ultrasound. Mov Disord 2001;16:23-32. (Pubitemid 36041110)
-
(2001)
Movement Disorders
, vol.16
, Issue.1
, pp. 23-32
-
-
Becker, G.1
Berg, D.2
-
10
-
-
4644278845
-
Brain parenchyma sonography detects preclinical parkinsonism
-
DOI 10.1002/mds.20232
-
Walter U, Klein C, Hilker R, Benecke R, Pramstaller PP, Dressler D. Brain parenchyma sonography detects preclinical parkinsonism. Mov Disord 2004;19:1445-1449. (Pubitemid 40104051)
-
(2004)
Movement Disorders
, vol.19
, Issue.12
, pp. 1445-1449
-
-
Walter, U.1
Klein, C.2
Hilker, R.3
Benecke, R.4
Pramstaller, P.P.5
Dressler, D.6
-
11
-
-
36148995473
-
Substantia nigra hyperechogenicity correlates with clinical status and number of Parkin mutated alleles
-
DOI 10.1007/s00415-007-0567-y
-
Hagenah JM, König IR, Becker B, et al. Substantia nigra hyperechogenicity correlates with clinical status and number of Parkin mutated alleles. J Neurol 2007;254:1407-1413. (Pubitemid 350112333)
-
(2007)
Journal of Neurology
, vol.254
, Issue.10
, pp. 1407-1413
-
-
Hagenah, J.M.1
Konig, I.R.2
Becker, B.3
Hilker, R.4
Kasten, M.5
Hedrich, K.6
Pramstaller, P.P.7
Klein, C.8
Seidel, G.9
-
12
-
-
34249107672
-
Transcranial ultrasound in different monogenetic subtypes of Parkinson's disease
-
DOI 10.1007/s00415-006-0369-7
-
Schweitzer KJ, Brüssel T, Leitner P, et al. Transcranial ultrasound in different monogenetic subtypes of Parkinson's disease. J Neurol 2007;254:613-616. (Pubitemid 46781971)
-
(2007)
Journal of Neurology
, vol.254
, Issue.5
, pp. 613-616
-
-
Schweitzer, K.J.1
Brussel, T.2
Leitner, P.3
Kruger, R.4
Bauer, P.5
Woitalla, D.6
Tomiuk, J.7
Gasser, T.8
Berg, D.9
-
13
-
-
0028298816
-
Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome
-
Najim al-Din AS, Wriekat A, Mubaidin A, Dasouki M, Hiari M. Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome. Acta Neurol Scand 1994;89:347-352.
-
(1994)
Acta Neurol Scand
, vol.89
, pp. 347-352
-
-
Najim Al-Din, A.S.1
Wriekat, A.2
Mubaidin, A.3
Dasouki, M.4
Hiari, M.5
-
14
-
-
27844571985
-
Kufor Rakeb disease: Autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia
-
Williams DR, Hadeed A, al-Din AS, Wreikat AL, Lees AJ. Kufor Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia. Mov Disord 2005;20:1264-1271.
-
(2005)
Mov Disord
, vol.20
, pp. 1264-1271
-
-
Williams, D.R.1
Hadeed, A.2
Al-Din, A.S.3
Wreikat, A.L.4
Lees, A.J.5
-
15
-
-
33745914229
-
Distinguishing early-onset PD from dopa-responsive dystonia with transcranial sonography
-
DOI 10.1212/01.wnl.0000219806.03849.1a, PII 0000611420060627000041
-
Hagenah J, Hedrich K, Becker B, Pramstaller PP, Seidel G, Klein C. Distinguishing early-onset PD from dopa-responsive dystonia with transcranial sonography. Neurology 2006;66:1951-1952. (Pubitemid 44049840)
-
(2006)
Neurology
, vol.66
, Issue.12
, pp. 1951-1952
-
-
Hagenah, J.M.1
Hedrich, K.2
Becker, B.3
Pramstaller, P.P.4
Seidel, G.5
Klein, C.6
-
16
-
-
34548249641
-
Morphometric fingerprint of asymptomatic Parkin and PINK1 mutation carriers in the basal ganglia
-
DOI 10.1212/01.wnl.0000267844.72421.6c, PII 0000611420070828000006
-
Binkofski F, Reetz K, Gaser C, et al. Morphometric fingerprint of asymptomatic Parkin and PINK1 mutation carriers in the basal ganglia. Neurology 2007;69:842-850. (Pubitemid 47329583)
-
(2007)
Neurology
, vol.69
, Issue.9
, pp. 842-850
-
-
Binkofski, F.1
Reetz, K.2
Gaser, C.3
Hilker, R.4
Hagenah, J.5
Hedrich, K.6
Van Eimeren, T.7
Thiel, A.8
Buchel, C.9
Pramstaller, P.P.10
Siebner, H.R.11
Klein, C.12
-
17
-
-
35349022051
-
Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplification
-
DOI 10.1002/mds.21370
-
Djarmati A, Guzvić M, Grünewald A, et al. Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplification. Mov Disord 2007;22:1708-1714. (Pubitemid 47597593)
-
(2007)
Movement Disorders
, vol.22
, Issue.12
, pp. 1708-1714
-
-
Djarmati, A.1
Guzvic, M.2
Grunewald, A.3
Lang, A.E.4
Pramstaller, P.P.5
Simon, D.K.6
Kaindl, A.M.7
Vieregge, P.8
Nygren, A.O.H.9
Beetz, C.10
Hedrich, K.11
Klein, C.12
-
18
-
-
33744760852
-
Association of PINK1 and DJ-1 confers digenic inheritance of early-onset Parkinson's disease
-
DOI 10.1093/hmg/ddl104
-
Tang B, Xiong H, Sun P, et al. Association of PINK1 and DJ- 1confers digenic inheritance of early-onset Parkinson's disease. Hum Mol Genet 2006;15:1816-1825. (Pubitemid 43821772)
-
(2006)
Human Molecular Genetics
, vol.15
, Issue.11
, pp. 1816-1825
-
-
Tang, B.1
Xiong, H.2
Sun, P.3
Zhang, Y.4
Wang, D.5
Hu, Z.6
Zhu, Z.7
Ma, H.8
Pan, Q.9
Xia, J.-H.10
Xia, K.11
Zhang, Z.12
-
19
-
-
33750725402
-
Digenic parkinsonism: Investigation of the synergistic effects of PRKN and LRRK2
-
Dächsel JC, Mata IF, Ross OA, et al. Digenic parkinsonism: investigation of the synergistic effects of PRKN and LRRK2. Neurosci Lett 2006;410:80-84.
-
(2006)
Neurosci Lett
, vol.410
, pp. 80-84
-
-
Dächsel, J.C.1
Mata, I.F.2
Ross, O.A.3
-
20
-
-
0242300619
-
α-Synuclein Locus Triplication Causes Parkinson's Disease
-
DOI 10.1126/science.1090278
-
Singleton AB, Farrer M, Johnson J, et al. α-Synuclein locus triplication causes Parkinson's disease. Science 2003;302:841. (Pubitemid 37339619)
-
(2003)
Science
, vol.302
, Issue.5646
, pp. 841
-
-
Singleton, A.B.1
Farrer, M.2
Johnson, J.3
Singleton, A.4
Hague, S.5
Kachergus, J.6
Hulihan, M.7
Peuralinna, T.8
Dutra, A.9
Nussbaum, R.10
Lincoln, S.11
Crawley, A.12
Hanson, M.13
Maraganore, D.14
Adler, C.15
Cookson, M.R.16
Muenter, M.17
Baptista, M.18
Miller, D.19
Blancato, J.20
Hardy, J.21
Gwinn-Hardy, K.22
more..
-
21
-
-
34548019735
-
Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum
-
Marongiu R, Brancati F, Antonini A, et al. Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum. Hum Mutat 2007;28:98.
-
(2007)
Hum Mutat
, vol.28
, pp. 98
-
-
Marongiu, R.1
Brancati, F.2
Antonini, A.3
-
22
-
-
54449096703
-
De novo a-synuclein duplication as cause of sporadic early onset parkinsonism
-
Brüggemann N, Odin P, Grünewald A, et al. De novo a-synuclein duplication as cause of sporadic early onset parkinsonism. Neurology 2008;71:1294.
-
(2008)
Neurology
, vol.71
, pp. 1294
-
-
Brüggemann, N.1
Odin, P.2
Grünewald, A.3
-
23
-
-
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
-
DOI 10.1086/318791
-
Periquet M, Lucking C, Vaughan J, et al. 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 2001;68:617-626. (Pubitemid 32202757)
-
(2001)
American Journal of Human Genetics
, vol.68
, Issue.3
, pp. 617-626
-
-
Periquet, M.1
Lucking, C.B.2
Vaughan, J.R.3
Bonifati, V.4
Durr, A.5
De Michele, G.6
Horstink, M.W.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.B.16
Wood, N.W.17
Agid, Y.18
Brice, A.19
Bonnet, A.-M.20
Broussolle, E.21
Damier, P.22
Destee, A.23
Durif, F.24
Feingold, J.25
Fenelon, G.26
Gasparini, F.27
Martinez, M.28
Penet, C.29
Rascol, O.30
Tison, F.31
Tranchant, C.32
Verin, M.33
Viallet, F.34
Vidailhet, M.35
Warter, J.-M.36
Muller-Myhsok, B.37
Breteler, M.38
Harhangi, S.39
Oostra, B.40
Demari, M.41
Fabrizio, E.42
Filla, A.43
more..
-
24
-
-
7244261867
-
Distribution, type and origin of Parkin mutations: Review and case studies
-
DOI 10.1002/mds.20234
-
Hedrich K, Eskelson C, Wilmot B, et al. Distribution, type, and origin of Parkin mutations: review and case studies. Mov Disord 2004;19:1146-1157. (Pubitemid 39429955)
-
(2004)
Movement Disorders
, vol.19
, Issue.10
, pp. 1146-1157
-
-
Hedrich, K.1
Eskelson, C.2
Wilmot, B.3
Marder, K.4
Harris, J.5
Garrels, J.6
Meija-Santana, H.7
Vieregge, P.8
Jacobs, H.9
Bressman, S.B.10
Lang, A.E.11
Kann, M.12
Abbruzzese, G.13
Martinelli, P.14
Schwinger, E.15
Ozelius, L.J.16
Pramstaller, P.P.17
Klein, C.18
Kramer, P.19
-
25
-
-
7444237665
-
Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews
-
DOI 10.1056/NEJMoa033277
-
Aharon-Peretz J, Rosenbaum H, Gershoni-Baruch R. Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N Engl J Med 2004;351:1972-1977. (Pubitemid 39447138)
-
(2004)
New England Journal of Medicine
, vol.351
, Issue.19
, pp. 1972-1977
-
-
Aharon-Peretz, J.1
Rosenbaum, H.2
Gershoni-Baruch, R.3
-
26
-
-
33748308981
-
Heterozygosity for a Mendelian disorder as a risk factor for complex disease
-
DOI 10.1111/j.1399-0004.2006.00688.x
-
Sidransky E. Heterozygosity for a Mendelian disorder as a risk factor for complex disease. Clin Genet 2006;70:275-282. (Pubitemid 44323390)
-
(2006)
Clinical Genetics
, vol.70
, Issue.4
, pp. 275-282
-
-
Sidransky, E.1
-
27
-
-
0035830425
-
Relationship of substantia nigra echogenicity and motor function in elderly subjects
-
Berg D, Siefker C, Ruprecht-Dörfler P, Becker G. Relationship of substantia nigraechogenicity and motor function in elderly subjects. Neurology 2001;56:13-17. (Pubitemid 32059645)
-
(2001)
Neurology
, vol.56
, Issue.1
, pp. 13-17
-
-
Berg, D.1
Siefker, C.2
Ruprecht-Dorfler, P.3
Becker, G.4
-
28
-
-
33749265306
-
Morphological basis for the spectrum of clinical deficits in spinocerebellar ataxia 17 (SCA17)
-
DOI 10.1093/brain/awl148
-
Lasek K, Lencer R, Gaser C, et al. Morphological basis for the spectrum of clinical deficits in spinocerebellar ataxia 17 (SCA17). Brain 2006;129:2341-2352. (Pubitemid 44522119)
-
(2006)
Brain
, vol.129
, Issue.9
, pp. 2341-2352
-
-
Lasek, K.1
Lencer, R.2
Gaser, C.3
Hagenah, J.4
Walter, U.5
Wolters, A.6
Kock, N.7
Steinlechner, S.8
Nagel, M.9
Zuhlke, C.10
Nitschke, M.-F.11
Brockmann, K.12
Klein, C.13
Rolfs, A.14
Binkofski, F.15
|