-
1
-
-
54049097933
-
The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations
-
Goker-Alpan O, Lopez G, Vithayathil J, Davis J, Hallett M, Sidransky E. The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations. Arch Neurol 2008; 65: 1353-1357.
-
(2008)
Arch Neurol
, vol.65
, pp. 1353-1357
-
-
Goker-Alpan, O.1
Lopez, G.2
Vithayathil, J.3
Davis, J.4
Hallett, M.5
Sidransky, E.6
-
2
-
-
3242703423
-
Neuropathology provides clues to the pathophysiology of Gaucher disease
-
Wong K, Sidransky E, Verma A, et al. Neuropathology provides clues to the pathophysiology of Gaucher disease. Mol Genet Metab 2004; 82: 192-207.
-
(2004)
Mol Genet Metab
, vol.82
, pp. 192-207
-
-
Wong, K.1
Sidransky, E.2
Verma, A.3
-
3
-
-
69949134511
-
The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism
-
DePaolo J, Goker-Alpan O, Samaddar T, Lopez G, Sidransky E. The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism. Mov Disord 2009; 24: 1571-1578.
-
(2009)
Mov Disord
, vol.24
, pp. 1571-1578
-
-
DePaolo, J.1
Goker-Alpan, O.2
Samaddar, T.3
Lopez, G.4
Sidransky, E.5
-
4
-
-
66249109910
-
Mutations for Gaucher disease confer high susceptibility to Parkinson disease
-
Mitsui J, Mizuta I, Toyoda A, et al. Mutations for Gaucher disease confer high susceptibility to Parkinson disease. Arch Neurol 2009; 66: 571-576.
-
(2009)
Arch Neurol
, vol.66
, pp. 571-576
-
-
Mitsui, J.1
Mizuta, I.2
Toyoda, A.3
-
5
-
-
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: 1651-1661.
-
(2009)
N Engl J Med
, vol.361
, pp. 1651-1661
-
-
Sidransky, E.1
Nalls, M.A.2
Aasly, J.O.3
-
6
-
-
71049138581
-
Alpha-synuclein-glucocerebrosidase interactions in pharmacological Gaucher models: a biological link between Gaucher disease and parkinsonism
-
Manning-Bog AB, Schule B, Langston JW. Alpha-synuclein-glucocerebrosidase interactions in pharmacological Gaucher models: a biological link between Gaucher disease and parkinsonism. Neurotoxicology 2009; 30: 1127-1132.
-
(2009)
Neurotoxicology
, vol.30
, pp. 1127-1132
-
-
Manning-Bog, A.B.1
Schule, B.2
Langston, J.W.3
-
7
-
-
26444609722
-
ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity
-
Ron I, Horowitz M. ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity. Hum Mol Genet 2005; 14: 2387-2398.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 2387-2398
-
-
Ron, I.1
Horowitz, M.2
-
8
-
-
77956537090
-
Interaction between parkin and mutant glucocerebrosidase variants: a possible link between Parkinson disease and Gaucher disease
-
Ron I, Rapaport D, Horowitz M. Interaction between parkin and mutant glucocerebrosidase variants: a possible link between Parkinson disease and Gaucher disease. Hum Mol Genet 2010; 19: 3771-3781.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 3771-3781
-
-
Ron, I.1
Rapaport, D.2
Horowitz, M.3
-
9
-
-
77951541740
-
Lysosomal degradation of alpha-synuclein in vivo
-
Mak SK, McCormack AL, Manning-Bog AB, Cuervo AM, Di Monte DA. Lysosomal degradation of alpha-synuclein in vivo. J Biol Chem 2010; 285: 13621-13629.
-
(2010)
J Biol Chem
, vol.285
, pp. 13621-13629
-
-
Mak, S.K.1
McCormack, A.L.2
Manning-Bog, A.B.3
Cuervo, A.M.4
Di Monte, D.A.5
-
10
-
-
53049098471
-
Wild type alpha-synuclein is degraded by chaperone-mediated autophagy and macroautophagy in neuronal cells
-
Vogiatzi T, Xilouri M, Vekrellis K, Stefanis L. Wild type alpha-synuclein is degraded by chaperone-mediated autophagy and macroautophagy in neuronal cells. J Biol Chem 2008; 283: 23542-23556.
-
(2008)
J Biol Chem
, vol.283
, pp. 23542-23556
-
-
Vogiatzi, T.1
Xilouri, M.2
Vekrellis, K.3
Stefanis, L.4
-
11
-
-
1442275729
-
Clearance of alpha-synuclein oligomeric intermediates via the lysosomal degradation pathway
-
Lee HJ, Khoshaghideh F, Patel S, Lee SJ. Clearance of alpha-synuclein oligomeric intermediates via the lysosomal degradation pathway. J Neurosci 2004; 24: 1888-1896.
-
(2004)
J Neurosci
, vol.24
, pp. 1888-1896
-
-
Lee, H.J.1
Khoshaghideh, F.2
Patel, S.3
Lee, S.J.4
-
12
-
-
0037334339
-
At the acidic edge: emerging functions for lysosomal membrane proteins
-
Eskelinen EL, Tanaka Y, Saftig P. At the acidic edge: emerging functions for lysosomal membrane proteins. Trends Cell Biol 2003; 13: 137-145.
-
(2003)
Trends Cell Biol
, vol.13
, pp. 137-145
-
-
Eskelinen, E.L.1
Tanaka, Y.2
Saftig, P.3
-
13
-
-
1842866714
-
A role for the lysosomal membrane protein LGP85 in the biogenesis and maintenance of endosomal and lysosomal morphology
-
Kuronita T, Eskelinen EL, Fujita H, Saftig P, Himeno M, Tanaka Y. A role for the lysosomal membrane protein LGP85 in the biogenesis and maintenance of endosomal and lysosomal morphology. J Cell Sci 2002; 115( Pt 21): 4117-4131.
-
(2002)
J Cell Sci
, vol.115
, Issue.PART 21
, pp. 4117-4131
-
-
Kuronita, T.1
Eskelinen, E.L.2
Fujita, H.3
Saftig, P.4
Himeno, M.5
Tanaka, Y.6
-
14
-
-
0028911434
-
The CD36, CLA-1 (CD36 L1), and LIMPII (CD36 L2) gene family: cellular distribution, chromosomal location, and genetic evolution
-
Calvo D, Dopazo J, Vega MA. The CD36, CLA-1 (CD36 L1), and LIMPII (CD36 L2) gene family: cellular distribution, chromosomal location, and genetic evolution. Genomics 1995; 25: 100-106.
-
(1995)
Genomics
, vol.25
, pp. 100-106
-
-
Calvo, D.1
Dopazo, J.2
Vega, M.A.3
-
15
-
-
36048935960
-
LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase
-
Reczek D, Schwake M, Schroder J, et al. LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase. Cell 2007; 131: 770-783.
-
(2007)
Cell
, vol.131
, pp. 770-783
-
-
Reczek, D.1
Schwake, M.2
Schroder, J.3
-
16
-
-
0038784148
-
Diagnostic criteria for Parkinson's disease
-
Albanese A. Diagnostic criteria for Parkinson's disease. Neurol Sci 2003; 24( Suppl 1): S23-S26.
-
(2003)
Neurol Sci
, vol.24
, Issue.SUPPL. 1
-
-
Albanese, A.1
-
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
-
-
77953101407
-
The generalized odds ratio as a measure of genetic risk effect in the analysis and meta-analysis of association studies
-
Zintzaras E. The generalized odds ratio as a measure of genetic risk effect in the analysis and meta-analysis of association studies. Stat Appl Genet Mol Biol 2010; 9: Article21.
-
(2010)
Stat Appl Genet Mol Biol
, vol.9
-
-
Zintzaras, E.1
-
19
-
-
18944381751
-
SHEsis, a powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism loci
-
Shi YY, He L. SHEsis, a powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism loci. Cell Res 2005; 15: 97-98.
-
(2005)
Cell Res
, vol.15
, pp. 97-98
-
-
Shi, Y.Y.1
He, L.2
-
21
-
-
0033646621
-
The extent of linkage disequilibrium in four populations with distinct demographic histories
-
Dunning AM, Durocher F, Healey CS, et al. The extent of linkage disequilibrium in four populations with distinct demographic histories. Am J Hum Genet 2000; 67: 1544-1554.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1544-1554
-
-
Dunning, A.M.1
Durocher, F.2
Healey, C.S.3
-
22
-
-
62149091854
-
A neurologist's guide to genome-wide association studies
-
Mullen SA, Crompton DE, Carney PW, Helbig I, Berkovic SF. A neurologist's guide to genome-wide association studies. Neurology 2009; 72: 558-565.
-
(2009)
Neurology
, vol.72
, pp. 558-565
-
-
Mullen, S.A.1
Crompton, D.E.2
Carney, P.W.3
Helbig, I.4
Berkovic, S.F.5
-
23
-
-
0031946381
-
Mapping genes through the use of linkage disequilibrium generated by genetic drift: 'drift mapping' in small populations with no demographic expansion
-
Terwilliger JD, Züllner S, Laan M, Pääbo S. Mapping genes through the use of linkage disequilibrium generated by genetic drift: 'drift mapping' in small populations with no demographic expansion. Hum Hered 1998; 48: 138-154.
-
(1998)
Hum Hered
, vol.48
, pp. 138-154
-
-
Terwilliger, J.D.1
Züllner, S.2
Laan, M.3
Pääbo, S.4
-
24
-
-
0037340445
-
Haplotype analysis in population genetics and association studies
-
Zhao H, Pfeiffer R, Gail MH. Haplotype analysis in population genetics and association studies. Pharmacogenomics 2003; 4: 171-178.
-
(2003)
Pharmacogenomics
, vol.4
, pp. 171-178
-
-
Zhao, H.1
Pfeiffer, R.2
Gail, M.H.3
-
25
-
-
0035257236
-
Association study designs for complex diseases
-
Cardon LR, Bell JI. Association study designs for complex diseases. Nat Rev Genet 2001; 2: 91-99.
-
(2001)
Nat Rev Genet
, vol.2
, pp. 91-99
-
-
Cardon, L.R.1
Bell, J.I.2
-
26
-
-
39149139125
-
Synthesis of genetic association studies for pertinent gene-disease associations requires appropriate methodological and statistical approaches
-
Zintzaras E, Lau J. Synthesis of genetic association studies for pertinent gene-disease associations requires appropriate methodological and statistical approaches. J Clin Epidemiol 2008; 61: 634-645.
-
(2008)
J Clin Epidemiol
, vol.61
, pp. 634-645
-
-
Zintzaras, E.1
Lau, J.2
-
27
-
-
70549088602
-
Genome-wide association study reveals genetic risk underlying Parkinson's disease
-
Simon-Sanchez J, Schulte C, Bras JM, et al. Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat Genet 2009; 41: 1308-1312.
-
(2009)
Nat Genet
, vol.41
, pp. 1308-1312
-
-
Simon-Sanchez, J.1
Schulte, C.2
Bras, J.M.3
-
28
-
-
33749667345
-
Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data
-
Fung HC, Scholz S, Matarin M, et al. Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data. Lancet Neurol 2006; 5: 911-916.
-
(2006)
Lancet Neurol
, vol.5
, pp. 911-916
-
-
Fung, H.C.1
Scholz, S.2
Matarin, M.3
-
29
-
-
58149100151
-
Genomewide association study for susceptibility genes contributing to familial Parkinson disease
-
Pankratz N, Wilk JB, Latourelle JC, et al. Genomewide association study for susceptibility genes contributing to familial Parkinson disease. Hum Genet 2009; 124: 593-605.
-
(2009)
Hum Genet
, vol.124
, pp. 593-605
-
-
Pankratz, N.1
Wilk, J.B.2
Latourelle, J.C.3
-
30
-
-
0037444221
-
LIMP-2/LGP85 deficiency causes ureteric pelvic junction obstruction, deafness and peripheral neuropathy in mice
-
Gamp AC, Tanaka Y, Lullmann-Rauch R, et al. LIMP-2/LGP85 deficiency causes ureteric pelvic junction obstruction, deafness and peripheral neuropathy in mice. Hum Mol Genet 2003; 12: 631-646.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 631-646
-
-
Gamp, A.C.1
Tanaka, Y.2
Lullmann-Rauch, R.3
-
31
-
-
40849144062
-
Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis
-
Berkovic SF, Dibbens LM, Oshlack A, et al. Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis. Am J Hum Genet 2008; 82: 673-684.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 673-684
-
-
Berkovic, S.F.1
Dibbens, L.M.2
Oshlack, A.3
-
32
-
-
70449364101
-
SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure
-
Dibbens LM, Michelucci R, Gambardella A, et al. SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure. Ann Neurol 2009; 66: 532-536.
-
(2009)
Ann Neurol
, vol.66
, pp. 532-536
-
-
Dibbens, L.M.1
Michelucci, R.2
Gambardella, A.3
-
33
-
-
79956199921
-
Acid beta-glucosidase mutants linked to Gaucher disease, Parkinson disease, and Lewy body dementia alter alpha-synuclein processing
-
Cullen V, Sardi SP, Ng J, et al. Acid beta-glucosidase mutants linked to Gaucher disease, Parkinson disease, and Lewy body dementia alter alpha-synuclein processing. Ann Neurol 2011; 69: 940-953.
-
(2011)
Ann Neurol
, vol.69
, pp. 940-953
-
-
Cullen, V.1
Sardi, S.P.2
Ng, J.3
-
34
-
-
77950360086
-
Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand beta-glucocerebrosidase
-
Blanz J, Groth J, Zachos C, Wehling C, Saftig P, Schwake M. Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand beta-glucocerebrosidase. Hum Mol Genet 2010; 19: 563-572.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 563-572
-
-
Blanz, J.1
Groth, J.2
Zachos, C.3
Wehling, C.4
Saftig, P.5
Schwake, M.6
-
35
-
-
79959841853
-
Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease
-
Do CB, Tung JY, Dorfman E, et al. Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. PLoS Genet; 7: e1002141.
-
PLoS Genet
, vol.7
-
-
Do, C.B.1
Tung, J.Y.2
Dorfman, E.3
|