-
1
-
-
33745919520
-
Epidemiology of Parkinson's disease
-
De Lau LM, Breteler MM. Epidemiology of Parkinson's disease. Lancet Neurol 2006; 5(6): 525-35.
-
(2006)
Lancet Neurol
, vol.5
, Issue.6
, pp. 525-535
-
-
De Lau, L.M.1
Breteler, M.M.2
-
2
-
-
0141741347
-
Parkinson's disease: Mechanisms and models
-
Dauer W, Przedborski S. Parkinson's disease: mechanisms and models. Neuron 2003; 39(6): 889-909.
-
(2003)
Neuron
, vol.39
, Issue.6
, pp. 889-909
-
-
Dauer, W.1
Przedborski, S.2
-
3
-
-
0037333666
-
Staging of brain pathology related to sporadic Parkinson's disease
-
Braak H, Del Tredici K, Rub U, de Vos RA, Jansen Steur EN, Braak E. Staging of brain pathology related to sporadic Parkinson's disease. Neurobiol Aging 2003; 24(2): 197-211.
-
(2003)
Neurobiol Aging
, vol.24
, Issue.2
, pp. 197-211
-
-
Braak, H.1
Del Tredici, K.2
Rub, U.3
de Vos, R.A.4
Jansen Steur, E.N.5
Braak, E.6
-
4
-
-
0029559666
-
Familial Parkinson's disease: A clinical genetic analysis
-
Bonifati V, Fabrizio E, Vanacore N, De Mari M, Meco G. Familial Parkinson's disease: a clinical genetic analysis. Can J Neurol Sci 1995; 22(4): 272-9.
-
(1995)
Can J Neurol Sci
, vol.22
, Issue.4
, pp. 272-279
-
-
Bonifati, V.1
Fabrizio, E.2
Vanacore, N.3
De Mari, M.4
Meco, G.5
-
5
-
-
84858693790
-
Role of mendelian genes in "sporadic" Parkinson's disease
-
Lesage S, Brice A. Role of mendelian genes in "sporadic" Parkinson's disease. Parkinsonism Relat Disord 2012; 18 Suppl 1: S66-70.
-
(2012)
Parkinsonism Relat Disord
, vol.18
, pp. S66-S70
-
-
Lesage, S.1
Brice, A.2
-
6
-
-
0032499264
-
Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
-
Kitada T, Asakawa S, Hattori N, et al. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 1998; 392(6676): 605-8.
-
(1998)
Nature
, vol.392
, Issue.6676
, pp. 605-608
-
-
Kitada, T.1
Asakawa, S.2
Hattori, N.3
-
7
-
-
2442668926
-
Hereditary early-onset Parkinson's disease caused by mutations in PINK1
-
Valente EM, Abou-Sleiman PM, Caputo V, et al. Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science 2004; 304(5674): 1158-60.
-
(2004)
Science
, vol.304
, Issue.5674
, pp. 1158-1160
-
-
Valente, E.M.1
Abou-Sleiman, P.M.2
Caputo, V.3
-
8
-
-
0037428241
-
Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism
-
Bonifati V, Rizzu P, van Baren Mj, et al. Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science 2003; 299(5604): 256-9.
-
(2003)
Science
, vol.299
, Issue.5604
, pp. 256-259
-
-
Bonifati, V.1
Rizzu, P.2
van Baren, M.3
-
9
-
-
84860487766
-
A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism
-
Edvardson S, Cinnamon Y, Ta-Shma A, et al. A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism. PLoS One 2012; 7(5): e36458.
-
(2012)
PLoS One
, vol.7
, Issue.5
-
-
Edvardson, S.1
Cinnamon, Y.2
Ta-Shma, A.3
-
10
-
-
84874271513
-
DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability
-
Koroglu C, Baysal L, Cetinkaya M, Karasoy H, Tolun A. DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability. Parkinsonism Relat Disord 2013; 19(3): 320-4.
-
(2013)
Parkinsonism Relat Disord
, vol.19
, Issue.3
, pp. 320-324
-
-
Koroglu, C.1
Baysal, L.2
Cetinkaya, M.3
Karasoy, H.4
Tolun, A.5
-
11
-
-
84881612311
-
Mutation in the SYNJ1 Gene Associated with Autosomal Recessive, Early-Onset Parkinsonism
-
Quadri M, Fang M, Picillo M, et al. Mutation in the SYNJ1 Gene Associated with Autosomal Recessive, Early-Onset Parkinsonism. Hum Mutat 2013; 34(9): 1208-15.
-
(2013)
Hum Mutat
, vol.34
, Issue.9
, pp. 1208-1215
-
-
Quadri, M.1
Fang, M.2
Picillo, M.3
-
12
-
-
84881610810
-
The Sac1 Domain of SYNJ1 Identified Mutated in a Family with Early-Onset Progressive Parkinsonism with Generalized Seizures
-
Krebs CE, Karkheiran S, Powell JC, et al. The Sac1 Domain of SYNJ1 Identified Mutated in a Family with Early-Onset Progressive Parkinsonism with Generalized Seizures. Hum Mutat 2013; 34(9): 1200-7.
-
(2013)
Hum Mutat
, vol.34
, Issue.9
, pp. 1200-1207
-
-
Krebs, C.E.1
Karkheiran, S.2
Powell, J.C.3
-
13
-
-
84875277277
-
Monogenic Parkinson's disease and parkinsonism: Clinical phenotypes and frequencies of known mutations
-
Puschmann A. Monogenic Parkinson's disease and parkinsonism: clinical phenotypes and frequencies of known mutations. Parkinsonism Relat Disord 2013; 19(4): 407-15.
-
(2013)
Parkinsonism Relat Disord
, vol.19
, Issue.4
, pp. 407-415
-
-
Puschmann, A.1
-
14
-
-
80052091852
-
Parkinson disease: Insights in clinical, genetic and pathological features of monogenic disease subtypes
-
Crosiers D, Theuns J, Cras P, Van Broeckhoven C. Parkinson disease: insights in clinical, genetic and pathological features of monogenic disease subtypes. J Chem Neuroanat 2011; 42(2): 131-41.
-
(2011)
J Chem Neuroanat
, vol.42
, Issue.2
, pp. 131-141
-
-
Crosiers, D.1
Theuns, J.2
Cras, P.3
Van Broeckhoven, C.4
-
15
-
-
77950855127
-
PINK1-linked parkinsonism is associated with Lewy body pathology
-
Samaranch L, Lorenzo-Betancor O, Arbelo JM, et al. PINK1-linked parkinsonism is associated with Lewy body pathology. Brain 2010; 133(Pt 4): 1128-42.
-
(2010)
Brain
, vol.133
, pp. 1128-1142
-
-
Samaranch, L.1
Lorenzo-Betancor, O.2
Arbelo, J.M.3
-
16
-
-
60549116319
-
A multidisciplinary study of patients with early-onset PD with and without parkin mutations
-
Lohmann E, Thobois S, Lesage S, et al. A multidisciplinary study of patients with early-onset PD with and without parkin mutations. Neurology 2009; 72(2): 110-6.
-
(2009)
Neurology
, vol.72
, Issue.2
, pp. 110-116
-
-
Lohmann, E.1
Thobois, S.2
Lesage, S.3
-
17
-
-
34247185238
-
Neuropsychiatric and cognitive features in autosomal-recessive early parkinsonism due to PINK1 mutations
-
Ephraty L, Porat O, Israeli D, et al. Neuropsychiatric and cognitive features in autosomal-recessive early parkinsonism due to PINK1 mutations. Mov Disord 2007; 22(4): 566-9.
-
(2007)
Mov Disord
, vol.22
, Issue.4
, pp. 566-569
-
-
Ephraty, L.1
Porat, O.2
Israeli, D.3
-
18
-
-
10744232719
-
Clinical features and neuroimaging of PARK7-linked parkinsonism
-
Dekker M, Bonifati V, van Swieten J, et al. Clinical features and neuroimaging of PARK7-linked parkinsonism. Mov Disord 2003; 18(7): 751-7.
-
(2003)
Mov Disord
, vol.18
, Issue.7
, pp. 751-757
-
-
Dekker, M.1
Bonifati, V.2
van Swieten, J.3
-
19
-
-
5444272172
-
Causes of Parkinson's disease: Genetics of DJ-1
-
Abou-Sleiman pM, Healy DG, Wood NW. Causes of Parkinson's disease: genetics of DJ-1. Cell Tissue Res 2004; 318(1): 185-8.
-
(2004)
Cell Tissue Res
, vol.318
, Issue.1
, pp. 185-188
-
-
Abou-Sleimanp, M.1
Healy, D.G.2
Wood, N.W.3
-
20
-
-
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(10): 1264-71.
-
(2005)
Mov Disord
, vol.20
, Issue.10
, pp. 1264-1271
-
-
Williams, D.R.1
Hadeed, A.2
al-Din, A.S.3
Wreikat, A.L.4
Lees, A.J.5
-
21
-
-
33749133430
-
Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase
-
Ramirez A, Heimbach A, Grundemann 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(10): 1184-91.
-
(2006)
Nat Genet
, vol.38
, Issue.10
, pp. 1184-1191
-
-
Ramirez, A.1
Heimbach, A.2
Grundemann, J.3
-
22
-
-
84865069720
-
Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9)
-
Eiberg H, Hansen L, Korbo L, et al. Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9). Clin Genet 2012; 82(3): 256-63.
-
(2012)
Clin Genet
, vol.82
, Issue.3
, pp. 256-263
-
-
Eiberg, H.1
Hansen, L.2
Korbo, L.3
-
23
-
-
84861723960
-
Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis
-
Bras J, Verloes A, Schneider Sa, Mole SE, Guerreiro RJ. Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. Hum Mol Genet 2012; 21(12): 2646-50.
-
(2012)
Hum Mol Genet
, vol.21
, Issue.12
, pp. 2646-2650
-
-
Bras, J.1
Verloes, A.2
Schneider Sa Mole, S.E.3
Guerreiro, R.J.4
-
24
-
-
70450161985
-
ATP13A2 variants in early-onset Parkinson's disease patients and controls
-
Djarmati A, Hagenah J, Reetz K, et al. ATP13A2 variants in early-onset Parkinson's disease patients and controls. Mov Disord 2009; 24(14): 2104-11.
-
(2009)
Mov Disord
, vol.24
, Issue.14
, pp. 2104-2111
-
-
Djarmati, A.1
Hagenah, J.2
Reetz, K.3
-
25
-
-
77958570876
-
Phenotypic spectrum of patients with PLA2G6 mutation and PARK14-linked parkinsonism
-
Yoshino H, Tomiyama H, Tachibana N, et al. Phenotypic spectrum of patients with PLA2G6 mutation and PARK14-linked parkinsonism. Neurology 2010; 75(15): 1356-61.
-
(2010)
Neurology
, vol.75
, Issue.15
, pp. 1356-1361
-
-
Yoshino, H.1
Tomiyama, H.2
Tachibana, N.3
-
26
-
-
59649088353
-
FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome
-
Di Fonzo A, Dekker MC, Montagna P, et al. FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome. Neurology 2009; 72(3): 240-5.
-
(2009)
Neurology
, vol.72
, Issue.3
, pp. 240-245
-
-
Di Fonzo, A.1
Dekker, M.C.2
Montagna, P.3
-
28
-
-
84865864065
-
The genetics and neuropathology of Parkinson's disease
-
Houlden H, Singleton AB. The genetics and neuropathology of Parkinson's disease. Acta Neuropathol 2012; 124(3): 325-38.
-
(2012)
Acta Neuropathol
, vol.124
, Issue.3
, pp. 325-338
-
-
Houlden, H.1
Singleton, A.B.2
-
29
-
-
49649103203
-
Autosomal dominant dopa-responsive parkinsonism in a multigenerational Swiss family
-
Wider C, Skipper L, Solida A, et al. Autosomal dominant dopa-responsive parkinsonism in a multigenerational Swiss family. Parkinsonism Relat Disord 2008; 14(6): 465-70.
-
(2008)
Parkinsonism Relat Disord
, vol.14
, Issue.6
, pp. 465-470
-
-
Wider, C.1
Skipper, L.2
Solida, A.3
-
30
-
-
0030744876
-
Mutation in the alpha-synuclein gene identified in families with Parkinson's disease
-
Polymeropoulos MH, Lavedan C, Leroy E, et al. Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science 1997; 276(5321): 2045-7.
-
(1997)
Science
, vol.276
, Issue.5321
, pp. 2045-2047
-
-
Polymeropoulos, M.H.1
Lavedan, C.2
Leroy, E.3
-
31
-
-
0033022357
-
Mutated alpha-synuclein gene in two Greek kindreds with familial PD: Incomplete penetrance?
-
Papadimitriou A, Veletza V, Hadjigeorgiou GM, Patrikiou A, Hirano M, Anastasopoulos I. Mutated alpha-synuclein gene in two Greek kindreds with familial PD: incomplete penetrance? Neurology 1999; 52(3): 651-4.
-
(1999)
Neurology
, vol.52
, Issue.3
, pp. 651-654
-
-
Papadimitriou, A.1
Veletza, V.2
Hadjigeorgiou, G.M.3
Patrikiou, A.4
Hirano, M.5
Anastasopoulos, I.6
-
32
-
-
0035097503
-
Clinical and pathological features of a Parkinsonian syndrome in a family with an Ala53Thr alpha-synuclein mutation
-
Spira PJ, Sharpe DM, Halliday G, Cavanagh J, Nicholson GA. Clinical and pathological features of a Parkinsonian syndrome in a family with an Ala53Thr alpha-synuclein mutation. Ann Neurol 2001; 49(3): 313-9.
-
(2001)
Ann Neurol
, vol.49
, Issue.3
, pp. 313-319
-
-
Spira, P.J.1
Sharpe, D.M.2
Halliday, G.3
Cavanagh, J.4
Nicholson, G.A.5
-
33
-
-
34248351183
-
The Ala53Thr mutation in the alpha-synuclein gene in a Korean family with Parkinson disease
-
Ki CS, Stavrou EF, Davanos N, et al. The Ala53Thr mutation in the alpha-synuclein gene in a Korean family with Parkinson disease. Clin Genet 2007; 71(5): 471-3.
-
(2007)
Clin Genet
, vol.71
, Issue.5
, pp. 471-473
-
-
Ki, C.S.1
Stavrou, E.F.2
Davanos, N.3
-
34
-
-
70350149351
-
A Swedish family with de novo alpha-synuclein A53T mutation: Evidence for early cortical dysfunction
-
Puschmann A, Ross OA, Vilarino-Guell C, et al. A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunction. Parkinsonism Relat Disord 2009; 15(9): 627-32.
-
(2009)
Parkinsonism Relat Disord
, vol.15
, Issue.9
, pp. 627-632
-
-
Puschmann, A.1
Ross, O.A.2
Vilarino-Guell, C.3
-
35
-
-
16844380834
-
A case of late onset sporadic Parkinson's disease with an A53T mutation in alpha-synuclein
-
Michell aW, Barker RA, Raha SK, Raha-Chowdhury R. A case of late onset sporadic Parkinson's disease with an A53T mutation in alpha-synuclein. J Neurol Neurosurg Psychiatry 2005; 76(4): 596-7.
-
(2005)
J Neurol Neurosurg Psychiatry
, vol.76
, Issue.4
, pp. 596-597
-
-
Michella, W.1
Barker, R.A.2
Raha, S.K.3
Raha-Chowdhury, R.4
-
36
-
-
0031990490
-
Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease
-
Kruger R, Kuhn W, Muller T, et al. Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease. Nat Genet 1998; 18(2): 106-8.
-
(1998)
Nat Genet
, vol.18
, Issue.2
, pp. 106-108
-
-
Kruger, R.1
Kuhn, W.2
Muller, T.3
-
37
-
-
10744230149
-
The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia
-
Zarranz JJ, Alegre J, Gomez-Esteban JC, et al. The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia. Ann Neurol 2004; 55(2): 164-73.
-
(2004)
Ann Neurol
, vol.55
, Issue.2
, pp. 164-173
-
-
Zarranz, J.J.1
Alegre, J.2
Gomez-Esteban, J.C.3
-
38
-
-
84876226920
-
A novel alpha-synuclein missense mutation in Parkinson disease
-
Proukakis C, Dudzik CG, Brier T, et al. A novel alpha-synuclein missense mutation in Parkinson disease. Neurology 2013; 80(11): 1062-4.
-
(2013)
Neurology
, vol.80
, Issue.11
, pp. 1062-1064
-
-
Proukakis, C.1
Dudzik, C.G.2
Brier, T.3
-
39
-
-
84879605541
-
Alpha-synuclein p. H50Q, a novel pathogenic mutation for Parkinson's disease
-
Appel-Cresswell S, Vilarino-Guell C, Encarnacion M, et al. Alpha-synuclein p. H50Q, a novel pathogenic mutation for Parkinson's disease. Mov Disord 2013; 28(6): 811-3.
-
(2013)
Mov Disord
, vol.28
, Issue.6
, pp. 811-813
-
-
Appel-Cresswell, S.1
Vilarino-Guell, C.2
Encarnacion, M.3
-
40
-
-
84878405578
-
G51D alpha-synuclein mutation causes a novel parkinsonian-pyramidal syndrome
-
Lesage S, Anheim M, Letournel F, et al. G51D alpha-synuclein mutation causes a novel parkinsonian-pyramidal syndrome. Ann Neurol 2013; 73(4): 459-71.
-
(2013)
Ann Neurol
, vol.73
, Issue.4
, pp. 459-471
-
-
Lesage, S.1
Anheim, M.2
Letournel, F.3
-
41
-
-
80055082804
-
Parkinson's disease and alpha-synuclein expression
-
Devine MJ, Gwinn K, Singleton A, Hardy J. Parkinson's disease and alpha-synuclein expression. Mov Disord 2011; 26(12): 2160-8.
-
(2011)
Mov Disord
, vol.26
, Issue.12
, pp. 2160-2168
-
-
Devine, M.J.1
Gwinn, K.2
Singleton, A.3
Hardy, J.4
-
42
-
-
0242300619
-
Alpha-Synuclein locus triplication causes Parkinson's disease
-
Singleton AB, Farrer M, Johnson J, et al. alpha-Synuclein locus triplication causes Parkinson's disease. Science 2003; 302(5646): 841.
-
(2003)
Science
, vol.302
, Issue.5646
, pp. 841
-
-
Singleton, A.B.1
Farrer, M.2
Johnson, J.3
-
43
-
-
84879605074
-
Alpha-synuclein gene duplication: Marked intrafamilial variability in two novel pedigrees
-
Elia AE, Petrucci S, Fasano A, et al. Alpha-synuclein gene duplication: Marked intrafamilial variability in two novel pedigrees. Mov Disord 2013; 28(6): 813-7.
-
(2013)
Mov Disord
, vol.28
, Issue.6
, pp. 813-817
-
-
Elia, A.E.1
Petrucci, S.2
Fasano, A.3
-
44
-
-
34147109175
-
Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication
-
Fuchs J, Nilsson C, Kachergus J, et al. Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication. Neurology 2007; 68(12): 916-22.
-
(2007)
Neurology
, vol.68
, Issue.12
, pp. 916-922
-
-
Fuchs, J.1
Nilsson, C.2
Kachergus, J.3
-
45
-
-
42249115274
-
Patients homozygous and heterozygous for SNCA duplication in a family with parkinsonism and dementia
-
Ikeuchi T, Kakita A, Shiga A, et al. Patients homozygous and heterozygous for SNCA duplication in a family with parkinsonism and dementia. Arch Neurol 2008; 65(4): 514-9.
-
(2008)
Arch Neurol
, vol.65
, Issue.4
, pp. 514-519
-
-
Ikeuchi, T.1
Kakita, A.2
Shiga, A.3
-
46
-
-
80052410038
-
Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by alpha-synuclein triplication (Iowa kindred)
-
Gwinn K, Devine MJ, Jin LW, et al. Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by alpha-synuclein triplication (Iowa kindred). Mov Disord 2011; 26(11): 2134-6.
-
(2011)
Mov Disord
, vol.26
, Issue.11
, pp. 2134-2136
-
-
Gwinn, K.1
Devine, M.J.2
Jin, L.W.3
-
47
-
-
4644290985
-
Alpha-synuclein locus duplication as a cause of familial Parkinson's disease
-
Chartier-Harlin MC, Kachergus J, Roumier C, et al. Alpha-synuclein locus duplication as a cause of familial Parkinson's disease. Lancet 2004; 364(9440): 1167-9.
-
(2004)
Lancet
, vol.364
, Issue.9440
, pp. 1167-1169
-
-
Chartier-Harlin, M.C.1
Kachergus, J.2
Roumier, C.3
-
48
-
-
4644236043
-
Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease
-
Ibanez P, Bonnet AM, Debarges B, et al. Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease. Lancet 2004; 364(9440): 1169-71.
-
(2004)
Lancet
, vol.364
, Issue.9440
, pp. 1169-1171
-
-
Ibanez, P.1
Bonnet, A.M.2
Debarges, B.3
-
49
-
-
32044453611
-
Clinical heterogeneity of alpha-synuclein gene duplication in Parkinson's disease
-
Nishioka K, Hayashi S, Farrer MJ, et al. Clinical heterogeneity of alpha-synuclein gene duplication in Parkinson's disease. Ann Neurol 2006; 59(2): 298-309.
-
(2006)
Ann Neurol
, vol.59
, Issue.2
, pp. 298-309
-
-
Nishioka, K.1
Hayashi, S.2
Farrer, M.J.3
-
50
-
-
70449841367
-
Expanding the clinical phenotype of SNCA duplication carriers
-
Nishioka K, Ross OA, Ishii K, et al. Expanding the clinical phenotype of SNCA duplication carriers. Mov Disord 2009; 24(12): 1811-9.
-
(2009)
Mov Disord
, vol.24
, Issue.12
, pp. 1811-1819
-
-
Nishioka, K.1
Ross, O.A.2
Ishii, K.3
-
51
-
-
37849012348
-
Alpha-Synuclein gene duplication is present in sporadic Parkinson disease
-
Ahn TB, Kim SY, Kim JY, et al. alpha-Synuclein gene duplication is present in sporadic Parkinson disease. Neurology 2008; 70(1): 43-9.
-
(2008)
Neurology
, vol.70
, Issue.1
, pp. 43-49
-
-
Ahn, T.B.1
Kim, S.Y.2
Kim, J.Y.3
-
52
-
-
77951952662
-
Two Parkinson's disease patients with alpha-synuclein gene duplication and rapid cognitive decline
-
Shin CW, Kim HJ, Park SS, Kim SY, Kim JY, Jeon BS. Two Parkinson's disease patients with alpha-synuclein gene duplication and rapid cognitive decline. Mov Disord 2010; 25(7): 957-9.
-
(2010)
Mov Disord
, vol.25
, Issue.7
, pp. 957-959
-
-
Shin, C.W.1
Kim, H.J.2
Park, S.S.3
Kim, S.Y.4
Kim, J.Y.5
Jeon, B.S.6
-
53
-
-
80052967403
-
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: A case-control study
-
Ross OA, Soto-Ortolaza AI, Heckman MG, et al. Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study. Lancet Neurol 2011; 10(10): 898-908.
-
(2011)
Lancet Neurol
, vol.10
, Issue.10
, pp. 898-908
-
-
Ross, O.A.1
Soto-Ortolaza, A.I.2
Heckman, M.G.3
-
54
-
-
79957617156
-
Milestones in PD genetics
-
Gasser T, Hardy J, Mizuno Y. Milestones in PD genetics. Mov Disord 2011; 26(6): 1042-8.
-
(2011)
Mov Disord
, vol.26
, Issue.6
, pp. 1042-1048
-
-
Gasser, T.1
Hardy, J.2
Mizuno, Y.3
-
55
-
-
79960210306
-
Genetic characteristics of leucine-rich repeat kinase 2 (LRRK2) associated Parkinson's disease
-
Bardien S, Lesage S, Brice A, Carr J. Genetic characteristics of leucine-rich repeat kinase 2 (LRRK2) associated Parkinson's disease. Parkinsonism Relat Disord 2011; 17(7): 501-8.
-
(2011)
Parkinsonism Relat Disord
, vol.17
, Issue.7
, pp. 501-508
-
-
Bardien, S.1
Lesage, S.2
Brice, A.3
Carr, J.4
-
56
-
-
50049104725
-
Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: A case-control study
-
Healy DG, Falchi M, O'Sullivan SS, et al. Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study. Lancet Neurol 2008; 7(7): 583-90.
-
(2008)
Lancet Neurol
, vol.7
, Issue.7
, pp. 583-590
-
-
Healy, D.G.1
Falchi, M.2
O'Sullivan, S.S.3
-
58
-
-
80051534540
-
A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease
-
Zimprich A, Benet-Pages A, Struhal W, et al. A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. Am J Hum Genet 2011; 89(1): 168-75.
-
(2011)
Am J Hum Genet
, vol.89
, Issue.1
, pp. 168-175
-
-
Zimprich, A.1
Benet-Pages, A.2
Struhal, W.3
-
59
-
-
84856956020
-
Screening for VPS35 mutations in Parkinson's disease
-
Sheerin UM, Charlesworth G, Bras J, et al. Screening for VPS35 mutations in Parkinson's disease. Neurobiol Aging 2012; 33(4): 838 e1-5.
-
(2012)
Neurobiol Aging
, vol.33
, Issue.4
, pp. 838e1-838e5
-
-
Sheerin, U.M.1
Charlesworth, G.2
Bras, J.3
-
60
-
-
84876261148
-
Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease
-
Nuytemans K, Bademci G, Inchausti V, et al. Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease. Neurology 2013; 80(11): 982-9.
-
(2013)
Neurology
, vol.80
, Issue.11
, pp. 982-989
-
-
Nuytemans, K.1
Bademci, G.2
Inchausti, V.3
-
61
-
-
84870287920
-
A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants
-
Sharma M, Ioannidis JP, Aasly JO, et al. A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants. J Med Genet 2012; 49(11): 721-6.
-
(2012)
J Med Genet
, vol.49
, Issue.11
, pp. 721-726
-
-
Sharma, M.1
Ioannidis, J.P.2
Aasly, J.O.3
-
62
-
-
80052780004
-
Translation initiator EIF4G1 mutations in familial Parkinson disease
-
Chartier-Harlin MC, Dachsel Jc, Vilarino-Guell C, et al. Translation initiator EIF4G1 mutations in familial Parkinson disease. Am J Hum Genet 2011; 89(3): 398-406.
-
(2011)
Am J Hum Genet
, vol.89
, Issue.3
, pp. 398-406
-
-
Chartier-Harlin, M.C.1
Dachsel Jc Vilarino-Guell, C.2
-
63
-
-
84865021853
-
Variants in eukaryotic translation initiation factor 4G1 in sporadic Parkinson's disease
-
Schulte EC, Mollenhauer B, Zimprich A, et al. Variants in eukaryotic translation initiation factor 4G1 in sporadic Parkinson's disease. Neurogenetics 2012; 13(3): 281-5.
-
(2012)
Neurogenetics
, vol.13
, Issue.3
, pp. 281-285
-
-
Schulte, E.C.1
Mollenhauer, B.2
Zimprich, A.3
-
64
-
-
84872314762
-
Analysis of EIF4G1 in Parkinson's disease among Asians
-
Zhao Y, Ho P, Prakash KM, et al. Analysis of EIF4G1 in Parkinson's disease among Asians. Neurobiol Aging 2013; 34(4): 1311 e5-6.
-
(2013)
Neurobiol Aging
, vol.34
, Issue.4
, pp. 1311e5-1311e6
-
-
Zhao, Y.1
Ho, P.2
Prakash, K.M.3
-
65
-
-
0031951197
-
A susceptibility locus for Parkinson's disease maps to chromosome 2p13
-
Gasser T, Muller-Myhsok B, Wszolek ZK, et al. A susceptibility locus for Parkinson's disease maps to chromosome 2p13. Nat Genet 1998; 18(3): 262-5.
-
(1998)
Nat Genet
, vol.18
, Issue.3
, pp. 262-265
-
-
Gasser, T.1
Muller-Myhsok, B.2
Wszolek, Z.K.3
-
66
-
-
18344363723
-
PARK3 influences age at onset in Parkinson disease: A genome scan in the GenePD study
-
DeStefano AL, Lew MF, Golbe LI, et al. PARK3 influences age at onset in Parkinson disease: a genome scan in the GenePD study. Am J Hum Genet 2002; 70(5): 1089-95.
-
(2002)
Am J Hum Genet
, vol.70
, Issue.5
, pp. 1089-1095
-
-
DeStefano, A.L.1
Lew, M.F.2
Golbe, L.I.3
-
67
-
-
2342611060
-
Genes influencing Parkinson disease onset: Replication of PARK3 and identification of novel loci
-
Pankratz N, Uniacke SK, Halter CA, et al. Genes influencing Parkinson disease onset: replication of PARK3 and identification of novel loci. Neurology 2004; 62(9): 1616-8.
-
(2004)
Neurology
, vol.62
, Issue.9
, pp. 1616-1618
-
-
Pankratz, N.1
Uniacke, S.K.2
Halter, C.A.3
-
68
-
-
10744221687
-
A haplotype at the PARK3 locus influences onset age for Parkinson's disease: The GenePD study
-
Karamohamed S, DeStefano AL, Wilk JB, et al. A haplotype at the PARK3 locus influences onset age for Parkinson's disease: the GenePD study. Neurology 2003; 61(11): 1557-61.
-
(2003)
Neurology
, vol.61
, Issue.11
, pp. 1557-1561
-
-
Karamohamed, S.1
DeStefano, A.L.2
Wilk, J.B.3
-
69
-
-
33745875353
-
The sepiapterin reductase gene region reveals association in the PARK3 locus: Analysis of familial and sporadic Parkinson's disease in European populations
-
Sharma M, Mueller JC, Zimprich A, et al. The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populations. J Med Genet 2006; 43(7): 557-62.
-
(2006)
J Med Genet
, vol.43
, Issue.7
, pp. 557-562
-
-
Sharma, M.1
Mueller, J.C.2
Zimprich, A.3
-
70
-
-
0032190090
-
The ubiquitin pathway in Parkinson's disease
-
Leroy E, Boyer R, Auburger G, et al. The ubiquitin pathway in Parkinson's disease. Nature 1998; 395(6701): 451-2.
-
(1998)
Nature
, vol.395
, Issue.6701
, pp. 451-452
-
-
Leroy, E.1
Boyer, R.2
Auburger, G.3
-
71
-
-
0345701479
-
Significant linkage of Parkinson disease to chromosome 2q36-37
-
Pankratz N, Nichols WC, Uniacke Sk, et al. Significant linkage of Parkinson disease to chromosome 2q36-37. Am J Hum Genet 2003; 72(4): 1053-7.
-
(2003)
Am J Hum Genet
, vol.72
, Issue.4
, pp. 1053-1057
-
-
Pankratz, N.1
Nichols, W.C.2
Uniacke, S.3
-
72
-
-
41649096247
-
Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease
-
Lautier C, Goldwurm S, Durr A, et al. Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease. Am J Hum Genet 2008; 82(4): 822-33.
-
(2008)
Am J Hum Genet
, vol.82
, Issue.4
, pp. 822-833
-
-
Lautier, C.1
Goldwurm, S.2
Durr, A.3
-
73
-
-
74549218759
-
Summary of GIGYF2 studies in Parkinson's disease: The burden of proof
-
Tan EK, Schapira AH. Summary of GIGYF2 studies in Parkinson's disease: the burden of proof. Eur J Neurol 2010; 17(2): 175-6.
-
(2010)
Eur J Neurol
, vol.17
, Issue.2
, pp. 175-176
-
-
Tan, E.K.1
Schapira, A.H.2
-
74
-
-
25444498785
-
Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease
-
Strauss KM, Martins LM, Plun-Favreau H, et al. Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease. Hum Mol Genet 2005; 14(15): 2099-111.
-
(2005)
Hum Mol Genet
, vol.14
, Issue.15
, pp. 2099-2111
-
-
Strauss, K.M.1
Martins, L.M.2
Plun-Favreau, H.3
-
76
-
-
45749135862
-
Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls
-
Simon-Sanchez J, Singleton AB. Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls. Hum Mol Genet 2008; 17(13): 1988-93.
-
(2008)
Hum Mol Genet
, vol.17
, Issue.13
, pp. 1988-1993
-
-
Simon-Sanchez, J.1
Singleton, A.B.2
-
77
-
-
67349277693
-
Intrafamilial variability of Parkinson phenotype in SCAs: Novel cases due to SCA2 and SCA3 expansions
-
Socal MP, Emmel VE, Rieder CR, Hilbig A, Saraiva-Pereira ML, Jardim LB. Intrafamilial variability of Parkinson phenotype in SCAs: novel cases due to SCA2 and SCA3 expansions. Parkinsonism Relat Disord 2009; 15(5): 374-8.
-
(2009)
Parkinsonism Relat Disord
, vol.15
, Issue.5
, pp. 374-378
-
-
Socal, M.P.1
Emmel, V.E.2
Rieder, C.R.3
Hilbig, A.4
Saraiva-Pereira, M.L.5
Jardim, L.B.6
-
79
-
-
84874318643
-
C9orf72 repeat expansions are a rare genetic cause of parkinsonism
-
Lesage S, Le Ber I, Condroyer C, et al. C9orf72 repeat expansions are a rare genetic cause of parkinsonism. Brain 2013; 136(Pt 2): 385-91.
-
(2013)
Brain
, vol.136
, pp. 385-391
-
-
Lesage, S.1
Le Ber, I.2
Condroyer, C.3
-
80
-
-
42949118684
-
Gaucher disease: Mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)
-
Hruska kS, LaMarca ME, Scott CR, Sidransky E. Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hum Mutat 2008; 29(5): 567-83.
-
(2008)
Hum Mutat
, vol.29
, Issue.5
, pp. 567-583
-
-
Hruskak, S.1
LaMarca, M.E.2
Scott, C.R.3
Sidransky, E.4
-
81
-
-
70350319531
-
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease
-
Sidransky E, Nalls MA, Aasly JO, et al. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med 2009; 361(17): 1651-61.
-
(2009)
N Engl J Med
, vol.361
, Issue.17
, pp. 1651-1661
-
-
Sidransky, E.1
Nalls, M.A.2
Aasly, J.O.3
-
82
-
-
33646846303
-
Mutation analysis of Gaucher disease patients in Taiwan: High prevalence of the RecNciI and L444P mutations
-
Wan L, Hsu CM, Tsai CH, Lee CC, Hwu WL, Tsai FJ. Mutation analysis of Gaucher disease patients in Taiwan: high prevalence of the RecNciI and L444P mutations. Blood Cells Mol Dis 2006; 36(3): 422-5.
-
(2006)
Blood Cells Mol Dis
, vol.36
, Issue.3
, pp. 422-425
-
-
Wan, L.1
Hsu, C.M.2
Tsai, C.H.3
Lee, C.C.4
Hwu, W.L.5
Tsai, F.J.6
-
83
-
-
78049440186
-
Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases
-
Scott SA, Edelmann L, Liu L, Luo M, Desnick RJ, Kornreich R. Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases. Hum Mutat 2010; 31(11): 1240-50.
-
(2010)
Hum Mutat
, vol.31
, Issue.11
, pp. 1240-1250
-
-
Scott, S.A.1
Edelmann, L.2
Liu, L.3
Luo, M.4
Desnick, R.J.5
Kornreich, R.6
-
84
-
-
4744343655
-
Gaucher disease: Complexity in a "simple" disorder
-
Sidransky E. Gaucher disease: complexity in a "simple" disorder. Mol Genet Metab 2004; 83(1-2): 6-15.
-
(2004)
Mol Genet Metab
, vol.83
, Issue.1-2
, pp. 6-15
-
-
Sidransky, E.1
-
85
-
-
0029773625
-
Occurrence of Parkinson's syndrome in type I Gaucher disease
-
Neudorfer O, Giladi N, Elstein D, et al. Occurrence of Parkinson's syndrome in type I Gaucher disease. QJM 1996; 89(9): 691-4.
-
(1996)
QJM
, vol.89
, Issue.9
, pp. 691-694
-
-
Neudorfer, O.1
Giladi, N.2
Elstein, D.3
-
86
-
-
0032996131
-
Parkinson's syndrome preceding clinical manifestation of Gaucher's disease
-
Machaczka M, Rucinska M, Skotnicki AB, Jurczak W. Parkinson's syndrome preceding clinical manifestation of Gaucher's disease. Am J Hematol 1999; 61(3): 216-7.
-
(1999)
Am J Hematol
, vol.61
, Issue.3
, pp. 216-217
-
-
Machaczka, M.1
Rucinska, M.2
Skotnicki, A.B.3
Jurczak, W.4
-
87
-
-
10744226352
-
Gaucher's disease with Parkinson's disease: Clinical and pathological aspects
-
Bembi B, Zambito Marsala S, Sidransky E, et al. Gaucher's disease with Parkinson's disease: clinical and pathological aspects. Neurology 2003; 61(1): 99-101.
-
(2003)
Neurology
, vol.61
, Issue.1
, pp. 99-101
-
-
Bembi, B.1
Zambito Marsala, S.2
Sidransky, E.3
-
88
-
-
10844278246
-
Parkinsonism among Gaucher disease carriers
-
Goker-Alpan O, Schiffmann R, LaMarca ME, Nussbaum RL, McInerney-Leo A, Sidransky E. Parkinsonism among Gaucher disease carriers. J Med Genet 2004; 41(12): 937-40.
-
(2004)
J Med Genet
, vol.41
, Issue.12
, pp. 937-940
-
-
Goker-Alpan, O.1
Schiffmann, R.2
LaMarca, M.E.3
Nussbaum, R.L.4
McInerney-Leo, A.5
Sidransky, E.6
-
89
-
-
33646837867
-
Increased incidence of Parkinson disease among relatives of patients with Gaucher disease
-
Halperin A, Elstein D, Zimran A. Increased incidence of Parkinson disease among relatives of patients with Gaucher disease. Blood Cells Mol Dis 2006; 36(3): 426-8.
-
(2006)
Blood Cells Mol Dis
, vol.36
, Issue.3
, pp. 426-428
-
-
Halperin, A.1
Elstein, D.2
Zimran, A.3
-
90
-
-
84873564795
-
Age-specific Parkinson disease risk in GBA mutation carriers: Information for genetic counseling
-
Rana HQ, Balwani M, Bier L, Alcalay RN. Age-specific Parkinson disease risk in GBA mutation carriers: information for genetic counseling. Genet Med 2013; 15(2): 146-9.
-
(2013)
Genet Med
, vol.15
, Issue.2
, pp. 146-149
-
-
Rana, H.Q.1
Balwani, M.2
Bier, L.3
Alcalay, R.N.4
-
91
-
-
84858144224
-
Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers
-
Anheim M, Elbaz A, Lesage S, et al. Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers. Neurology 2012; 78(6): 417-20.
-
(2012)
Neurology
, vol.78
, Issue.6
, pp. 417-420
-
-
Anheim, M.1
Elbaz, A.2
Lesage, S.3
-
92
-
-
84874307778
-
Glucocerebrosidase mutations influence the natural history of Parkinson's disease in a community-based incident cohort
-
Winder-Rhodes SE, Evans JR, Ban M, et al. Glucocerebrosidase mutations influence the natural history of Parkinson's disease in a community-based incident cohort. Brain 2013; 136(Pt 2): 392-9.
-
(2013)
Brain
, vol.136
, pp. 392-399
-
-
Winder-Rhodes, S.E.1
Evans, J.R.2
Ban, M.3
-
93
-
-
80051481698
-
GBA-associated PD presents with nonmotor characteristics
-
Brockmann K, Srulijes K, Hauser AK, et al. GBA-associated PD presents with nonmotor characteristics. Neurology 2011; 77(3): 276-80.
-
(2011)
Neurology
, vol.77
, Issue.3
, pp. 276-280
-
-
Brockmann, K.1
Srulijes, K.2
Hauser, A.K.3
-
94
-
-
10744224035
-
Pael-R is accumulated in Lewy bodies of Parkinson's disease
-
Murakami T, Shoji M, Imai Y, et al. Pael-R is accumulated in Lewy bodies of Parkinson's disease. Ann Neurol 2004; 55(3): 439-42.
-
(2004)
Ann Neurol
, vol.55
, Issue.3
, pp. 439-442
-
-
Murakami, T.1
Shoji, M.2
Imai, Y.3
-
95
-
-
84867036900
-
Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains
-
Gegg ME, Burke D, Heales SJ, et al. Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains. Ann Neurol 2012; 72(3): 455-63.
-
(2012)
Ann Neurol
, vol.72
, Issue.3
, pp. 455-463
-
-
Gegg, M.E.1
Burke, D.2
Heales, S.J.3
-
96
-
-
79960009804
-
Gaucher disease glucocerebrosidase and alpha-synuclein form a bidirectional pathogenic loop in synucleinopathies
-
Mazzulli JR, Xu YH, Sun Y, et al. Gaucher disease glucocerebrosidase and alpha-synuclein form a bidirectional pathogenic loop in synucleinopathies. Cell 2011; 146(1): 37-52.
-
(2011)
Cell
, vol.146
, Issue.1
, pp. 37-52
-
-
Mazzulli, J.R.1
Xu, Y.H.2
Sun, Y.3
-
97
-
-
33646375711
-
High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease
-
Bender A, Krishnan KJ, Morris CM, et al. High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease. Nat Genet 2006; 38(5): 515-7.
-
(2006)
Nat Genet
, vol.38
, Issue.5
, pp. 515-517
-
-
Bender, A.1
Krishnan, K.J.2
Morris, C.M.3
-
98
-
-
79955078128
-
Parkinson's syndrome and Parkinson's disease in mitochondrial disorders
-
Finsterer J. Parkinson's syndrome and Parkinson's disease in mitochondrial disorders. Mov Disord 2011; 26(5): 784-91.
-
(2011)
Mov Disord
, vol.26
, Issue.5
, pp. 784-791
-
-
Finsterer, J.1
-
99
-
-
79955894792
-
POLG1-related and other "mitochondrial Parkinsonisms": An overview
-
Orsucci D, Caldarazzo Ienco E, Mancuso M, Siciliano G. POLG1-related and other "mitochondrial Parkinsonisms": an overview. J Mol Neurosci 2011; 44(1): 17-24.
-
(2011)
J Mol Neurosci
, vol.44
, Issue.1
, pp. 17-24
-
-
Orsucci, D.1
Caldarazzo Ienco, E.2
Mancuso, M.3
Siciliano, G.4
-
100
-
-
34447249263
-
Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle
-
Baloh RH, Salavaggione E, Milbrandt J, Pestronk A. Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle. Arch Neurol 2007; 64(7): 998-1000.
-
(2007)
Arch Neurol
, vol.64
, Issue.7
, pp. 998-1000
-
-
Baloh, R.H.1
Salavaggione, E.2
Milbrandt, J.3
Pestronk, A.4
-
101
-
-
63449107606
-
Mitochondrial DNA sequence variation and neurodegeneration
-
Mancuso M, Filosto M, Orsucci D, Siciliano G. Mitochondrial DNA sequence variation and neurodegeneration. Hum Genomics 2008; 3(1): 71-8.
-
(2008)
Hum Genomics
, vol.3
, Issue.1
, pp. 71-78
-
-
Mancuso, M.1
Filosto, M.2
Orsucci, D.3
Siciliano, G.4
-
102
-
-
84879484724
-
Two-stage association study and meta-analysis of mitochondrial DNA variants in Parkinson disease
-
Hudson G, Nalls M, Evans JR, et al. Two-stage association study and meta-analysis of mitochondrial DNA variants in Parkinson disease. Neurology 2013; 80(22): 2042-8.
-
(2013)
Neurology
, vol.80
, Issue.22
, pp. 2042-2048
-
-
Hudson, G.1
Nalls, M.2
Evans, J.R.3
-
103
-
-
80054787664
-
What genetics tells us about the causes and mechanisms of Parkinson's disease
-
Corti O, Lesage S, Brice A. What genetics tells us about the causes and mechanisms of Parkinson's disease. Physiol Rev 2011; 91(4): 1161-218.
-
(2011)
Physiol Rev
, vol.91
, Issue.4
, pp. 1161-1218
-
-
Corti, O.1
Lesage, S.2
Brice, A.3
-
104
-
-
34250372427
-
Deciphering the role of heterozygous mutations in genes associated with parkinsonism
-
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(7): 652-62.
-
(2007)
Lancet Neurol
, 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
-
105
-
-
42049102405
-
PINK1 heterozygous rare variants: Prevalence, significance and phenotypic spectrum
-
Marongiu R, Ferraris A, Ialongo T, et al. PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum. Hum Mutat 2008; 29(4): 565.
-
(2008)
Hum Mutat
, vol.29
, Issue.4
, pp. 565
-
-
Marongiu, R.1
Ferraris, A.2
Ialongo, T.3
-
106
-
-
67549146854
-
Frequency of heterozygous Parkin mutations in healthy subjects: Need for careful prospective follow-up examination of mutation carriers
-
Bruggemann N, Mitterer M, Lanthaler AJ, et al. Frequency of heterozygous Parkin mutations in healthy subjects: need for careful prospective follow-up examination of mutation carriers. Parkinsonism Relat Disord 2009; 15(6): 425-9.
-
(2009)
Parkinsonism Relat Disord
, vol.15
, Issue.6
, pp. 425-429
-
-
Bruggemann, N.1
Mitterer, M.2
Lanthaler, A.J.3
-
107
-
-
33746869343
-
Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease
-
Maraganore DM, de Andrade M, Elbaz A, et al. Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease. JAMA 2006; 296(6): 661-70.
-
(2006)
JAMA
, vol.296
, Issue.6
, pp. 661-670
-
-
Maraganore, D.M.1
de Andrade, M.2
Elbaz, A.3
-
108
-
-
78149489129
-
SNCA variant associated with Parkinson disease and plasma alpha-synuclein level
-
Mata IF, Shi M, Agarwal P, et al. SNCA variant associated with Parkinson disease and plasma alpha-synuclein level. Arch Neurol 2010; 67(11): 1350-6.
-
(2010)
Arch Neurol
, vol.67
, Issue.11
, pp. 1350-1356
-
-
Mata, I.F.1
Shi, M.2
Agarwal, P.3
-
109
-
-
35348820061
-
The role of common genetic risk variants in Parkinson disease
-
Tan EK. The role of common genetic risk variants in Parkinson disease. Clin Genet 2007; 72(5): 387-93.
-
(2007)
Clin Genet
, vol.72
, Issue.5
, pp. 387-393
-
-
Tan, E.K.1
-
110
-
-
84865196862
-
Large-scale replication and heterogeneity in Parkinson disease genetic loci
-
Sharma M, Ioannidis JP, Aasly JO, et al. Large-scale replication and heterogeneity in Parkinson disease genetic loci. Neurology 2012; 79(7): 659-67.
-
(2012)
Neurology
, vol.79
, Issue.7
, pp. 659-667
-
-
Sharma, M.1
Ioannidis, J.P.2
Aasly, J.O.3
-
111
-
-
84859339977
-
Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database
-
Lill CM, Roehr JT, McQueen MB, et al. Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database. PLoS Genet 2012; 8(3): e1002548.
-
(2012)
PLoS Genet
, vol.8
, Issue.3
-
-
Lill, C.M.1
Roehr, J.T.2
McQueen, M.B.3
-
112
-
-
84859199353
-
Metaanalysis of Parkinson's disease: Identification of a novel locus, RIT2
-
Pankratz N, Beecham GW, DeStefano AL, et al. Metaanalysis of Parkinson's disease: identification of a novel locus, RIT2. Ann Neurol 2012; 71(3): 370-84.
-
(2012)
Ann Neurol
, vol.71
, Issue.3
, pp. 370-384
-
-
Pankratz, N.1
Beecham, G.W.2
DeStefano, A.L.3
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