-
1
-
-
79957606041
-
Etiology and pathogenesis of Parkinson's disease
-
Schapira AH, Jenner P. Etiology and pathogenesis of Parkinson's disease. Mov Disord 2011;26:1049-1055.
-
(2011)
Mov Disord
, vol.26
, pp. 1049-1055
-
-
Schapira, A.H.1
Jenner, P.2
-
2
-
-
0024572637
-
The human glucocerebrosidase gene and pseudogene: structure and evolution
-
Horowitz M, Wilder S, Horowitz Z, Reiner O, Gelbart T, Beutler E. The human glucocerebrosidase gene and pseudogene: structure and evolution. Genomics 1989;4:87-96.
-
(1989)
Genomics
, vol.4
, pp. 87-96
-
-
Horowitz, M.1
Wilder, S.2
Horowitz, Z.3
Reiner, O.4
Gelbart, T.5
Beutler, E.6
-
3
-
-
53049096591
-
Phenotype, diagnosis, and treatment of Gaucher's disease
-
Grabowski GA. Phenotype, diagnosis, and treatment of Gaucher's disease. Lancet 2008;372:1263-1271.
-
(2008)
Lancet
, vol.372
, pp. 1263-1271
-
-
Grabowski, G.A.1
-
4
-
-
84887574376
-
Glucocerebrosidase mutations and the pathogenesis of Parkinson disease
-
Beavan MS, Schapira AH. Glucocerebrosidase mutations and the pathogenesis of Parkinson disease. Ann Med 2013;45:511-521.
-
(2013)
Ann Med
, vol.45
, pp. 511-521
-
-
Beavan, M.S.1
Schapira, A.H.2
-
5
-
-
84872386771
-
Glucocerebrosidase mutations in a Serbian Parkinson's disease population
-
Kumar KR, Ramirez A, Gobel A, et al. Glucocerebrosidase mutations in a Serbian Parkinson's disease population. Eur J Neurol 2013;20:402-405.
-
(2013)
Eur J Neurol
, vol.20
, pp. 402-405
-
-
Kumar, K.R.1
Ramirez, A.2
Gobel, A.3
-
6
-
-
79956324138
-
Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease
-
Lesage S, Anheim M, Condroyer C, et al. Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease. Hum Mol Genet 2011;20:202-210.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 202-210
-
-
Lesage, S.1
Anheim, M.2
Condroyer, C.3
-
7
-
-
84863986749
-
A clinical and family history study of Parkinson's disease in heterozygous glucocerebrosidase mutation carriers
-
McNeill A, Duran R, Hughes DA, Mehta A, Schapira AH. A clinical and family history study of Parkinson's disease in heterozygous glucocerebrosidase mutation carriers. J Neurol Neurosurg Psychiatry 2012;83:853-854.
-
(2012)
J Neurol Neurosurg Psychiatry
, vol.83
, pp. 853-854
-
-
McNeill, A.1
Duran, R.2
Hughes, D.A.3
Mehta, A.4
Schapira, A.H.5
-
8
-
-
67650087652
-
Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease
-
Neumann J, Bras J, Deas E, et al. Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. Brain 2009;132:1783-1794.
-
(2009)
Brain
, vol.132
, pp. 1783-1794
-
-
Neumann, J.1
Bras, J.2
Deas, E.3
-
9
-
-
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
-
10
-
-
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
-
11
-
-
80052800116
-
Contribution of glucocerebrosidase mutation in a large cohort of sporadic Parkinson's disease in Taiwan
-
Huang CL, Wu-Chou YH, Lai SC, et al. Contribution of glucocerebrosidase mutation in a large cohort of sporadic Parkinson's disease in Taiwan. Eur J Neurol 2011;18:1227-1232.
-
(2011)
Eur J Neurol
, vol.18
, pp. 1227-1232
-
-
Huang, C.L.1
Wu-Chou, Y.H.2
Lai, S.C.3
-
12
-
-
33748304674
-
Glucocerebrosidase mutations are an important risk factor for Lewy body disorders
-
Goker-Alpan O, Giasson BI, Eblan MJ, et al. Glucocerebrosidase mutations are an important risk factor for Lewy body disorders. Neurology 2006;67:908-910.
-
(2006)
Neurology
, vol.67
, pp. 908-910
-
-
Goker-Alpan, O.1
Giasson, B.I.2
Eblan, M.J.3
-
13
-
-
40849120549
-
Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders
-
Mata IF, Samii A, Schneer SH, et al. Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders. Arch Neurol 2008;65:379-382.
-
(2008)
Arch Neurol
, vol.65
, pp. 379-382
-
-
Mata, I.F.1
Samii, A.2
Schneer, S.H.3
-
14
-
-
84878798127
-
A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies
-
Nalls MA, Duran R, Lopez G, et al. A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. JAMA Neurol 2013;70:727-735.
-
(2013)
JAMA Neurol
, vol.70
, pp. 727-735
-
-
Nalls, M.A.1
Duran, R.2
Lopez, G.3
-
15
-
-
77951204198
-
Glucocerebrosidase mutations p.L444P and p.N370S are not associated with multisystem atrophy, progressive supranuclear palsy and corticobasal degeneration in Polish patients
-
Jamrozik Z, Lugowska A, Slawek J, Kwiecinski H. Glucocerebrosidase mutations p.L444P and p.N370S are not associated with multisystem atrophy, progressive supranuclear palsy and corticobasal degeneration in Polish patients. J Neurol 2010;257:459-460.
-
(2010)
J Neurol
, vol.257
, pp. 459-460
-
-
Jamrozik, Z.1
Lugowska, A.2
Slawek, J.3
Kwiecinski, H.4
-
16
-
-
65249115797
-
Glucocerebrosidase mutations in 108 neuropathologically confirmed cases of multiple system atrophy
-
Segarane B, Li A, Paudel R, et al. Glucocerebrosidase mutations in 108 neuropathologically confirmed cases of multiple system atrophy. Neurology 2009;72:1185-1186.
-
(2009)
Neurology
, vol.72
, pp. 1185-1186
-
-
Segarane, B.1
Li, A.2
Paudel, R.3
-
17
-
-
84875020947
-
No association of GBA mutations and multiple system atrophy
-
Srulijes K, Hauser AK, Guella I, et al. No association of GBA mutations and multiple system atrophy. Eur J Neurol 2013;20:e61-e62.
-
(2013)
Eur J Neurol
, vol.20
, pp. e61-e62
-
-
Srulijes, K.1
Hauser, A.K.2
Guella, I.3
-
18
-
-
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
-
19
-
-
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;136:392-399.
-
(2013)
Brain
, vol.136
, pp. 392-399
-
-
Winder-Rhodes, S.E.1
Evans, J.R.2
Ban, M.3
-
20
-
-
84905054113
-
Visual short-term memory deficits associated with GBA mutation and Parkinson's disease
-
Zokaei N, McNeill A, Proukakis C, et al. Visual short-term memory deficits associated with GBA mutation and Parkinson's disease. Brain 2014;137:2303-2311.
-
(2014)
Brain
, vol.137
, pp. 2303-2311
-
-
Zokaei, N.1
McNeill, A.2
Proukakis, C.3
-
21
-
-
84864659715
-
The neurobiology of glucocerebrosidase-associated parkinsonism: a positron emission tomography study of dopamine synthesis and regional cerebral blood flow
-
Goker-Alpan O, Masdeu JC, Kohn PD, et al. The neurobiology of glucocerebrosidase-associated parkinsonism: a positron emission tomography study of dopamine synthesis and regional cerebral blood flow. Brain 2012;135:2440-2448.
-
(2012)
Brain
, vol.135
, pp. 2440-2448
-
-
Goker-Alpan, O.1
Masdeu, J.C.2
Kohn, P.D.3
-
22
-
-
84880707725
-
Dopaminergic neuronal imaging in genetic Parkinson's disease: insights into pathogenesis
-
McNeill A, Wu RM, Tzen KY, et al. Dopaminergic neuronal imaging in genetic Parkinson's disease: insights into pathogenesis. PLoS One 2013;8:e69190.
-
(2013)
PLoS One
, vol.8
, pp. e69190
-
-
McNeill, A.1
Wu, R.M.2
Tzen, K.Y.3
-
23
-
-
84878502529
-
Retinal thinning in Gaucher disease patients and carriers: results of a pilot study
-
McNeill A, Roberti G, Lascaratos G, Hughes D, Mehta A, Garway-Heath DF, Schapira AH. Retinal thinning in Gaucher disease patients and carriers: results of a pilot study. Mol Genet Metab 2013;109:221-223.
-
(2013)
Mol Genet Metab
, vol.109
, pp. 221-223
-
-
McNeill, A.1
Roberti, G.2
Lascaratos, G.3
Hughes, D.4
Mehta, A.5
Garway-Heath, D.F.6
Schapira, A.H.7
-
24
-
-
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
-
26
-
-
78149469728
-
Chaperone-mediated autophagy markers in Parkinson disease brains
-
Alvarez-Erviti L, Rodriguez-Oroz MC, Cooper JM, Caballero C, Ferrer I, Obeso JA, Schapira AH. Chaperone-mediated autophagy markers in Parkinson disease brains. Arch Neurol 2010;67:1464-1472.
-
(2010)
Arch Neurol
, vol.67
, pp. 1464-1472
-
-
Alvarez-Erviti, L.1
Rodriguez-Oroz, M.C.2
Cooper, J.M.3
Caballero, C.4
Ferrer, I.5
Obeso, J.A.6
Schapira, A.H.7
-
27
-
-
84929703186
-
Glucocerebrosidase and Parkinson disease: recent advances
-
Schapira AH. Glucocerebrosidase and Parkinson disease: recent advances. Mol Cell Neurosci 2015;66:37-42.
-
(2015)
Mol Cell Neurosci
, vol.66
, pp. 37-42
-
-
Schapira, A.H.1
-
28
-
-
84884717499
-
Genotype and phenotype in Parkinson's disease: lessons in heterogeneity from deep brain stimulation
-
Angeli A, Mencacci NE, Duran R, et al. Genotype and phenotype in Parkinson's disease: lessons in heterogeneity from deep brain stimulation. Mov Disord 2013;28:1370-1375.
-
(2013)
Mov Disord
, vol.28
, pp. 1370-1375
-
-
Angeli, A.1
Mencacci, N.E.2
Duran, R.3
-
29
-
-
84867036900
-
Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains
-
Gegg ME, Burke D, Heales SJ, Cooper JM, Hardy J, Wood NW, Schapira AH. Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains. Ann Neurol 2012;72:455-463.
-
(2012)
Ann Neurol
, vol.72
, pp. 455-463
-
-
Gegg, M.E.1
Burke, D.2
Heales, S.J.3
Cooper, J.M.4
Hardy, J.5
Wood, N.W.6
Schapira, A.H.7
-
30
-
-
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
-
31
-
-
84908282747
-
LIMP-2 expression is critical for beta-glucocerebrosidase activity and alpha-synuclein clearance
-
Rothaug M, Zunke F, Mazzulli JR, et al. LIMP-2 expression is critical for beta-glucocerebrosidase activity and alpha-synuclein clearance. Proc Natl Acad Sci U S A 2014;111:15573-15578.
-
(2014)
Proc Natl Acad Sci U S A
, vol.111
, pp. 15573-15578
-
-
Rothaug, M.1
Zunke, F.2
Mazzulli, J.R.3
-
32
-
-
84894528843
-
Reduced glucocerebrosidase is associated with increased alpha-synuclein in sporadic Parkinson's disease
-
Murphy KE, Gysbers AM, Abbott SK, et al. Reduced glucocerebrosidase is associated with increased alpha-synuclein in sporadic Parkinson's disease. Brain 2014;137:834-848.
-
(2014)
Brain
, vol.137
, pp. 834-848
-
-
Murphy, K.E.1
Gysbers, A.M.2
Abbott, S.K.3
-
33
-
-
84867090941
-
Glucocerebrosidase mutations alter the endoplasmic reticulum and lysosomes in Lewy body disease
-
Kurzawa-Akanbi M, Hanson PS, Blain PG, Lett DJ, McKeith IG, Chinnery PF, Morris CM. Glucocerebrosidase mutations alter the endoplasmic reticulum and lysosomes in Lewy body disease. J Neurochem 2012;123:298-309.
-
(2012)
J Neurochem
, vol.123
, pp. 298-309
-
-
Kurzawa-Akanbi, M.1
Hanson, P.S.2
Blain, P.G.3
Lett, D.J.4
McKeith, I.G.5
Chinnery, P.F.6
Morris, C.M.7
-
34
-
-
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;146:37-52.
-
(2011)
Cell
, vol.146
, pp. 37-52
-
-
Mazzulli, J.R.1
Xu, Y.H.2
Sun, Y.3
-
35
-
-
84893658332
-
Neuroinflammation and alpha-synuclein accumulation in response to glucocerebrosidase deficiency are accompanied by synaptic dysfunction
-
Ginns EI, Mak SK, Ko N, et al. Neuroinflammation and alpha-synuclein accumulation in response to glucocerebrosidase deficiency are accompanied by synaptic dysfunction. Mol Genet Metab 2014;111:152-162.
-
(2014)
Mol Genet Metab
, vol.111
, pp. 152-162
-
-
Ginns, E.I.1
Mak, S.K.2
Ko, N.3
-
36
-
-
84870671394
-
Glucocerebrosidase inhibition causes mitochondrial dysfunction and free radical damage
-
Cleeter MW, Chau KY, Gluck C, et al. Glucocerebrosidase inhibition causes mitochondrial dysfunction and free radical damage. Neurochem Int 2013;62:1-7.
-
(2013)
Neurochem Int
, vol.62
, pp. 1-7
-
-
Cleeter, M.W.1
Chau, K.Y.2
Gluck, C.3
-
37
-
-
84929303819
-
Selective loss of glucocerebrosidase activity in sporadic Parkinson's disease and dementia with Lewy bodies
-
Chiasserini D, Paciotti S, Eusebi P, et al. Selective loss of glucocerebrosidase activity in sporadic Parkinson's disease and dementia with Lewy bodies. Mol Neurodegener 2015;10:15.
-
(2015)
Mol Neurodegener
, vol.10
, pp. 15
-
-
Chiasserini, D.1
Paciotti, S.2
Eusebi, P.3
-
38
-
-
84947983376
-
Visualization of active glucocerebrosidase in rodent brain with high spatial resolution following in situ labeling with fluorescent activity based probes
-
Herrera Moro CD, Kallemeijn WW, Marques AR, et al. Visualization of active glucocerebrosidase in rodent brain with high spatial resolution following in situ labeling with fluorescent activity based probes. PLoS One 2015;10:e0138107.
-
(2015)
PLoS One
, vol.10
, pp. e0138107
-
-
Herrera Moro, C.D.1
Kallemeijn, W.W.2
Marques, A.R.3
-
39
-
-
84911406903
-
Gaucher disease due to saposin C deficiency is an inherited lysosomal disease caused by rapidly degraded mutant proteins
-
Motta M, Camerini S, Tatti M, et al. Gaucher disease due to saposin C deficiency is an inherited lysosomal disease caused by rapidly degraded mutant proteins. Hum Mol Genet 2014;23:5814-5826.
-
(2014)
Hum Mol Genet
, vol.23
, pp. 5814-5826
-
-
Motta, M.1
Camerini, S.2
Tatti, M.3
-
40
-
-
84886020944
-
Saposin C protects glucocerebrosidase against alpha-synuclein inhibition
-
Yap TL, Gruschus JM, Velayati A, Sidransky E, Lee JC. Saposin C protects glucocerebrosidase against alpha-synuclein inhibition. Biochemistry 2013;52:7161-7163.
-
(2013)
Biochemistry
, vol.52
, pp. 7161-7163
-
-
Yap, T.L.1
Gruschus, J.M.2
Velayati, A.3
Sidransky, E.4
Lee, J.C.5
-
41
-
-
84899819100
-
Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells
-
McNeill A, Magalhaes J, Shen C, et al. Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells. Brain 2014;137:1481-1495.
-
(2014)
Brain
, vol.137
, pp. 1481-1495
-
-
McNeill, A.1
Magalhaes, J.2
Shen, C.3
-
42
-
-
84933500849
-
Ambroxol-induced rescue of defective glucocerebrosidase is associated with increased LIMP-2 and saposin C levels in GBA1 mutant Parkinson's disease cells
-
Ambrosi G, Ghezzi C, Zangaglia R, Levandis G, Pacchetti C, Blandini F. Ambroxol-induced rescue of defective glucocerebrosidase is associated with increased LIMP-2 and saposin C levels in GBA1 mutant Parkinson's disease cells. Neurobiol Dis 2015;82:235-242.
-
(2015)
Neurobiol Dis
, vol.82
, pp. 235-242
-
-
Ambrosi, G.1
Ghezzi, C.2
Zangaglia, R.3
Levandis, G.4
Pacchetti, C.5
Blandini, F.6
-
43
-
-
34548039499
-
Lysosomal hydrolases in cerebrospinal fluid from subjects with Parkinson's disease
-
Balducci C, Pierguidi L, Persichetti E, et al. Lysosomal hydrolases in cerebrospinal fluid from subjects with Parkinson's disease. Mov Disord 2007;22:1481-1484.
-
(2007)
Mov Disord
, vol.22
, pp. 1481-1484
-
-
Balducci, C.1
Pierguidi, L.2
Persichetti, E.3
-
44
-
-
67349254635
-
Cerebrospinal fluid beta-glucocerebrosidase activity is reduced in Dementia with Lewy Bodies
-
Parnetti L, Balducci C, Pierguidi L, et al. Cerebrospinal fluid beta-glucocerebrosidase activity is reduced in Dementia with Lewy Bodies. Neurobiol Dis 2009; 34: 484-6.
-
(2009)
Neurobiol Dis
, vol.34
, pp. 484-486
-
-
Parnetti, L.1
Balducci, C.2
Pierguidi, L.3
-
45
-
-
84904427435
-
Cerebrospinal fluid lysosomal enzymes and alpha-synuclein in Parkinson's disease
-
Parnetti L, Chiasserini D, Persichetti E, et al. Cerebrospinal fluid lysosomal enzymes and alpha-synuclein in Parkinson's disease. Mov Disord 2014;29:1019-1027.
-
(2014)
Mov Disord
, vol.29
, pp. 1019-1027
-
-
Parnetti, L.1
Chiasserini, D.2
Persichetti, E.3
-
46
-
-
84879603583
-
Changes in endolysosomal enzyme activities in cerebrospinal fluid of patients with Parkinson's disease
-
van Dijk KD, Persichetti E, Chiasserini D, et al. Changes in endolysosomal enzyme activities in cerebrospinal fluid of patients with Parkinson's disease. Mov Disord 2013;28:747-754.
-
(2013)
Mov Disord
, vol.28
, pp. 747-754
-
-
van Dijk, K.D.1
Persichetti, E.2
Chiasserini, D.3
-
47
-
-
84903627715
-
Factors influencing the measurement of lysosomal enzymes activity in human cerebrospinal fluid
-
Persichetti E, Chiasserini D, Parnetti L, et al. Factors influencing the measurement of lysosomal enzymes activity in human cerebrospinal fluid. PLoS One 2014;9:e101453.
-
(2014)
PLoS One
, vol.9
, pp. e101453
-
-
Persichetti, E.1
Chiasserini, D.2
Parnetti, L.3
-
48
-
-
84856975504
-
Cerebrospinal fluid fatty acids in glucocerebrosidase-associated Parkinson's disease
-
Schmid SP, Schleicher ED, Cegan A, et al. Cerebrospinal fluid fatty acids in glucocerebrosidase-associated Parkinson's disease. Mov Disord 2012;27:288-292.
-
(2012)
Mov Disord
, vol.27
, pp. 288-292
-
-
Schmid, S.P.1
Schleicher, E.D.2
Cegan, A.3
-
49
-
-
84884264199
-
Plasma ceramide and glucosylceramide metabolism is altered in sporadic Parkinson's disease and associated with cognitive impairment: a pilot study
-
Mielke MM, Maetzler W, Haughey NJ, et al. Plasma ceramide and glucosylceramide metabolism is altered in sporadic Parkinson's disease and associated with cognitive impairment: a pilot study. PLoS One 2013;8:e73094.
-
(2013)
PLoS One
, vol.8
, pp. e73094
-
-
Mielke, M.M.1
Maetzler, W.2
Haughey, N.J.3
-
50
-
-
84931412885
-
No evidence for substrate accumulation in Parkinson brains with GBA mutations
-
Gegg ME, Sweet L, Wang BH, Shihabuddin LS, Sardi SP, Schapira AH. No evidence for substrate accumulation in Parkinson brains with GBA mutations. Mov Disord 2015;30:1085-1089.
-
(2015)
Mov Disord
, vol.30
, pp. 1085-1089
-
-
Gegg, M.E.1
Sweet, L.2
Wang, B.H.3
Shihabuddin, L.S.4
Sardi, S.P.5
Schapira, A.H.6
-
51
-
-
84880759951
-
Recent developments in biomarkers in Parkinson disease
-
Schapira AH. Recent developments in biomarkers in Parkinson disease. Curr Opin Neurol 2013;26:395-400.
-
(2013)
Curr Opin Neurol
, vol.26
, pp. 395-400
-
-
Schapira, A.H.1
-
52
-
-
84859423454
-
Hyposmia and cognitive impairment in Gaucher disease patients and carriers
-
McNeill A, Duran R, Proukakis C, et al. Hyposmia and cognitive impairment in Gaucher disease patients and carriers. Mov Disord 2012;27:526-532.
-
(2012)
Mov Disord
, vol.27
, pp. 526-532
-
-
McNeill, A.1
Duran, R.2
Proukakis, C.3
-
53
-
-
84922971361
-
Evolution of prodromal clinical markers of Parkinson disease in a GBA mutation-positive cohort
-
Beavan M, McNeill A, Proukakis C, Hughes DA, Mehta A, Schapira AH. Evolution of prodromal clinical markers of Parkinson disease in a GBA mutation-positive cohort. JAMA Neurol 2015;72:201-208.
-
(2015)
JAMA Neurol
, vol.72
, pp. 201-208
-
-
Beavan, M.1
McNeill, A.2
Proukakis, C.3
Hughes, D.A.4
Mehta, A.5
Schapira, A.H.6
-
54
-
-
85019474446
-
GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder
-
Gan-Or Z, Mirelman A, Postuma RB, et al. GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder. Ann Clin Transl Neurol 2015;2:941-945.
-
(2015)
Ann Clin Transl Neurol
, vol.2
, pp. 941-945
-
-
Gan-Or, Z.1
Mirelman, A.2
Postuma, R.B.3
-
55
-
-
84931956998
-
Plasma oligomeric alpha-synuclein is associated with glucocerebrosidase activity in Gaucher disease
-
Nuzhnyi E, Emelyanov A, Boukina T, Usenko T, Yakimovskii A, Zakharova E, Pchelina S. Plasma oligomeric alpha-synuclein is associated with glucocerebrosidase activity in Gaucher disease. Mov Disord 2015;30:989-991.
-
(2015)
Mov Disord
, vol.30
, pp. 989-991
-
-
Nuzhnyi, E.1
Emelyanov, A.2
Boukina, T.3
Usenko, T.4
Yakimovskii, A.5
Zakharova, E.6
Pchelina, S.7
-
56
-
-
84874464883
-
Glucocerebrosidase in the pathogenesis and treatment of Parkinson disease
-
Schapira AH, Gegg ME. Glucocerebrosidase in the pathogenesis and treatment of Parkinson disease. Proc Natl Acad Sci U S A 2013;110:3214-3215.
-
(2013)
Proc Natl Acad Sci U S A
, vol.110
, pp. 3214-3215
-
-
Schapira, A.H.1
Gegg, M.E.2
-
57
-
-
84877589314
-
Celastrol protects human neuroblastoma SH-SY5Y cells from rotenone-induced injury through induction of autophagy
-
Deng YN, Shi J, Liu J, Qu QM. Celastrol protects human neuroblastoma SH-SY5Y cells from rotenone-induced injury through induction of autophagy. Neurochem Int 2013;63:1-9.
-
(2013)
Neurochem Int
, vol.63
, pp. 1-9
-
-
Deng, Y.N.1
Shi, J.2
Liu, J.3
Qu, Q.M.4
-
58
-
-
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
-
59
-
-
84878811164
-
Mitochondria and quality control defects in a mouse model of Gaucher disease-links to Parkinson's disease
-
Osellame LD, Rahim AA, Hargreaves IP, et al. Mitochondria and quality control defects in a mouse model of Gaucher disease-links to Parkinson's disease. Cell Metab 2013;17:941-953.
-
(2013)
Cell Metab
, vol.17
, pp. 941-953
-
-
Osellame, L.D.1
Rahim, A.A.2
Hargreaves, I.P.3
-
60
-
-
84922266926
-
Augmentation of phenotype in a transgenic Parkinson mouse heterozygous for a Gaucher mutation
-
Fishbein I, Kuo YM, Giasson BI, Nussbaum RL. Augmentation of phenotype in a transgenic Parkinson mouse heterozygous for a Gaucher mutation. Brain 2014;137:3235-3247.
-
(2014)
Brain
, vol.137
, pp. 3235-3247
-
-
Fishbein, I.1
Kuo, Y.M.2
Giasson, B.I.3
Nussbaum, R.L.4
-
61
-
-
79961083395
-
CNS expression of glucocerebrosidase corrects alpha-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy
-
Sardi SP, Clarke J, Kinnecom C, et al. CNS expression of glucocerebrosidase corrects alpha-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy. Proc Natl Acad Sci U S A 2011;108:12101-12106.
-
(2011)
Proc Natl Acad Sci U S A
, vol.108
, pp. 12101-12106
-
-
Sardi, S.P.1
Clarke, J.2
Kinnecom, C.3
-
62
-
-
84874487118
-
Augmenting CNS glucocerebrosidase activity as a therapeutic strategy for parkinsonism and other Gaucher-related synucleinopathies
-
Sardi SP, Clarke J, Viel C, et al. Augmenting CNS glucocerebrosidase activity as a therapeutic strategy for parkinsonism and other Gaucher-related synucleinopathies. Proc Natl Acad Sci U S A 2013;110:3537-3542.
-
(2013)
Proc Natl Acad Sci U S A
, vol.110
, pp. 3537-3542
-
-
Sardi, S.P.1
Clarke, J.2
Viel, C.3
-
63
-
-
84922216790
-
Gaucher-related synucleinopathies: the examination of sporadic neurodegeneration from a rare (disease) angle
-
Sardi SP, Cheng SH, Shihabuddin LS. Gaucher-related synucleinopathies: the examination of sporadic neurodegeneration from a rare (disease) angle. Prog Neurobiol 2015;125:47-62
-
(2015)
Prog Neurobiol
, vol.125
, pp. 47-62
-
-
Sardi, S.P.1
Cheng, S.H.2
Shihabuddin, L.S.3
-
64
-
-
84899818136
-
Glucocerebrosidase is shaking up the synucleinopathies
-
Siebert M, Sidransky E, Westbroek W. Glucocerebrosidase is shaking up the synucleinopathies. Brain 2014;137:1304-1322.
-
(2014)
Brain
, vol.137
, pp. 1304-1322
-
-
Siebert, M.1
Sidransky, E.2
Westbroek, W.3
-
65
-
-
84945572141
-
Mitochondrial dysfunction associated with glucocerebrosidase deficiency
-
Sep 24 [Epub ahead of print]
-
Gegg ME, Schapira AH. Mitochondrial dysfunction associated with glucocerebrosidase deficiency. Neurobiol Dis 2015 Sep 24. pii: S0969-9961(15)30053-X. doi: 10.1016/j.nbd.2015.09.006. [Epub ahead of print]
-
(2015)
Neurobiol Dis
-
-
Gegg, M.E.1
Schapira, A.H.2
|