-
1
-
-
0038727936
-
Description of Parkinson's disease as a clinical syndrome
-
Fahn S. Description of Parkinson's disease as a clinical syndrome. Ann N Y Acad Sci 2003;991:1-14.
-
(2003)
Ann N Y Acad Sci
, vol.991
, pp. 1-14
-
-
Fahn, S.1
-
2
-
-
0141535355
-
Familial aggregation of early- and late-onset Parkinson's disease
-
Marder K, Levy G, Louis ED, et al. Familial aggregation of early- and late-onset Parkinson's disease. Ann Neurol 2003;54:507-513.
-
(2003)
Ann Neurol
, vol.54
, pp. 507-513
-
-
Marder, K.1
Levy, G.2
Louis, E.D.3
-
3
-
-
0034649710
-
Familial aggregation of Parkinson's disease in Iceland
-
Sveinbjornsdottir S, Hicks AA, Jonsson T, et al. Familial aggregation of Parkinson's disease in Iceland. N Engl J Med 2000;343:1765-1770.
-
(2000)
N Engl J Med
, vol.343
, pp. 1765-1770
-
-
Sveinbjornsdottir, S.1
Hicks, A.A.2
Jonsson, T.3
-
4
-
-
33646384570
-
Complex segregation analysis of Parkinson's disease: The Mayo Clinic Family Study
-
McDonnell SK, Schaid DJ, Elbaz A, et al. Complex segregation analysis of Parkinson's disease: The Mayo Clinic Family Study. Ann Neurol 2006;59:788-795.
-
(2006)
Ann Neurol
, vol.59
, pp. 788-795
-
-
McDonnell, S.K.1
Schaid, D.J.2
Elbaz, A.3
-
6
-
-
70749111489
-
Analysis of articulation between clathrin and retromer in retrograde sorting on early endosomes
-
Popoff V, Mardones GA, Bai SK, et al. Analysis of articulation between clathrin and retromer in retrograde sorting on early endosomes. Traffic 2009;10:1868-1880.
-
(2009)
Traffic
, vol.10
, pp. 1868-1880
-
-
Popoff, V.1
Mardones, G.A.2
Bai, S.K.3
-
7
-
-
1842561557
-
The J-domain protein Rme-8 interacts with Hsc70 to control clathrin-dependent endocytosis in Drosophila
-
Chang HC, Hull M, Mellman I. The J-domain protein Rme-8 interacts with Hsc70 to control clathrin-dependent endocytosis in Drosophila. J Cell Biol 2004;164:1055-1064.
-
(2004)
J Cell Biol
, vol.164
, pp. 1055-1064
-
-
Chang, H.C.1
Hull, M.2
Mellman, I.3
-
8
-
-
0035153296
-
RME-8, a conserved J-domain protein, is required for endocytosis in Caenorhabditis elegans
-
Zhang Y, Grant B, Hirsh D. RME-8, a conserved J-domain protein, is required for endocytosis in Caenorhabditis elegans. Mol Biol Cell 2001;12:2011-2021.
-
(2001)
Mol Biol Cell
, vol.12
, pp. 2011-2021
-
-
Zhang, Y.1
Grant, B.2
Hirsh, D.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:e36458.
-
(2012)
PLoS One
, vol.7
, pp. e36458
-
-
Edvardson, S.1
Cinnamon, Y.2
Ta-Shma, A.3
-
10
-
-
84876789790
-
Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease
-
Cadieux-Dion M, Andermann E, Lachance-Touchette P, et al. Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease. Clin Genet 2013;83:571-575.
-
(2013)
Clin Genet
, vol.83
, pp. 571-575
-
-
Cadieux-Dion, M.1
Andermann, E.2
Lachance-Touchette, P.3
-
11
-
-
0025939232
-
Accuracy of clinical diagnosis in parkinsonism: a prospective study
-
Rajput AH, Rozdilsky B, Rajput A. Accuracy of clinical diagnosis in parkinsonism: a prospective study. Can J Neurol Sci 1991;18:275-278.
-
(1991)
Can J Neurol Sci
, vol.18
, pp. 275-278
-
-
Rajput, A.H.1
Rozdilsky, B.2
Rajput, A.3
-
12
-
-
77956534324
-
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
-
Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 2010;38:e164.
-
(2010)
Nucleic Acids Res
, vol.38
, pp. e164
-
-
Wang, K.1
Li, M.2
Hakonarson, H.3
-
13
-
-
79952764520
-
Performance of mutation pathogenicity prediction methods on missense variants
-
Thusberg J, Olatubosun A, Vihinen M. Performance of mutation pathogenicity prediction methods on missense variants. Hum Mutat 2011;32:358-368.
-
(2011)
Hum Mutat
, vol.32
, pp. 358-368
-
-
Thusberg, J.1
Olatubosun, A.2
Vihinen, M.3
-
14
-
-
70349578343
-
Genetic variants of the alpha-synuclein gene SNCA are associated with multiple system atrophy
-
Al-Chalabi A, Durr A, Wood NW, et al. Genetic variants of the alpha-synuclein gene SNCA are associated with multiple system atrophy. PLoS One 2009;4:e7114.
-
(2009)
PLoS One
, vol.4
, pp. e7114
-
-
Al-Chalabi, A.1
Durr, A.2
Wood, N.W.3
-
15
-
-
0032543684
-
Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17
-
Hutton M, Lendon CL, Rizzu P, et al. Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 1998;393:702-705.
-
(1998)
Nature
, vol.393
, pp. 702-705
-
-
Hutton, M.1
Lendon, C.L.2
Rizzu, P.3
-
16
-
-
84863445909
-
The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features
-
Kara E, Ling H, Pittman AM, et al. The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features. Neurobiol Aging 2012;33:e2231;e2237-2231;e2214.
-
(2012)
Neurobiol Aging
, vol.33
, pp. 2231-2237
-
-
Kara, E.1
Ling, H.2
Pittman, A.M.3
-
17
-
-
67249139655
-
SNCA variants are associated with increased risk for multiple system atrophy
-
Scholz SW, Houlden H, Schulte C, et al. SNCA variants are associated with increased risk for multiple system atrophy. Ann Neurol 2009;65:610-614.
-
(2009)
Ann Neurol
, vol.65
, pp. 610-614
-
-
Scholz, S.W.1
Houlden, H.2
Schulte, C.3
-
18
-
-
85058205841
-
DNAJ mutations are rare in Chinese Parkinson's disease patients and controls
-
Foo JN, Liany H, Tan LC, et al. DNAJ mutations are rare in Chinese Parkinson's disease patients and controls. Neurobiol Aging 2014;35:935 e931-932.
-
(2014)
Neurobiol Aging
, vol.35
, pp. 931-932
-
-
Foo, J.N.1
Liany, H.2
Tan, L.C.3
-
19
-
-
84899733228
-
RME-8 coordinates the activity of the WASH complex with the function of the retromer SNX dimer to control endosomal tubulation
-
Freeman CL, Hesketh G, Seaman MN. RME-8 coordinates the activity of the WASH complex with the function of the retromer SNX dimer to control endosomal tubulation. J Cell Sci 2014;127:2053-2070.
-
(2014)
J Cell Sci
, vol.127
, pp. 2053-2070
-
-
Freeman, C.L.1
Hesketh, G.2
Seaman, M.N.3
-
21
-
-
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;89:168-175.
-
(2011)
Am J Hum Genet
, vol.89
, pp. 168-175
-
-
Zimprich, A.1
Benet-Pages, A.2
Struhal, W.3
-
22
-
-
8844233579
-
Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology
-
Zimprich A, Biskup S, Leitner P, et al. Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron 2004;44:601-607.
-
(2004)
Neuron
, vol.44
, pp. 601-607
-
-
Zimprich, A.1
Biskup, S.2
Leitner, P.3
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