-
1
-
-
0032531924
-
Parkinson's disease. Second of two parts
-
Lang AE, Lozano AM. Parkinson's disease. Second of two parts. N Engl J Med 1998;339:1130-1143.
-
(1998)
N Engl J Med
, vol.339
, pp. 1130-1143
-
-
Lang, A.E.1
Lozano, A.M.2
-
2
-
-
0346059412
-
Glucocerebrosidase mutations in subjects with parkinsonism
-
Lwin A, Orvisky E, Goker-Alpan O, LaMarca ME, Sidransky E. Glucocerebrosidase mutations in subjects with parkinsonism. Mol Genet Metab 2004;81:70-73.
-
(2004)
Mol Genet Metab
, vol.81
, pp. 70-73
-
-
Lwin, A.1
Orvisky, E.2
Goker-Alpan, O.3
LaMarca, M.E.4
Sidransky, E.5
-
3
-
-
10744226352
-
Gaucher's disease with Parkinson's disease: Clinical and pathological aspects
-
Bembi B, Zambito M, Sidransky E, et al. Gaucher's disease with Parkinson's disease: clinical and pathological aspects. Neurology 2003;16:99-101.
-
(2003)
Neurology
, vol.16
, pp. 99-101
-
-
Bembi, B.1
Zambito, M.2
Sidransky, E.3
-
4
-
-
0024320293
-
Prediction of severity of Gaucher's disease by identification of mutations at DNA level
-
Zimran A, Sorge J, Gross E, Kubitz M, West C, Beutler E. Prediction of severity of Gaucher's disease by identification of mutations at DNA level. Lancet 1989;2:349-352.
-
(1989)
Lancet
, vol.2
, pp. 349-352
-
-
Zimran, A.1
Sorge, J.2
Gross, E.3
Kubitz, M.4
West, C.5
Beutler, E.6
-
5
-
-
0034938880
-
Methylenetetrahydrofolate reductase genotypes and predisposition to atherothrombotic disease; evidence that all three MTHFR C677T genotypes confer different levels of risk
-
Kluijtmans LA, Whitehead AS. Methylenetetrahydrofolate reductase genotypes and predisposition to atherothrombotic disease; evidence that all three MTHFR C677T genotypes confer different levels of risk. Eur Heart J 2001;22:294-299.
-
(2001)
Eur Heart J
, vol.22
, pp. 294-299
-
-
Kluijtmans, L.A.1
Whitehead, A.S.2
-
6
-
-
3242703423
-
Neuropathology provides clues to the pathophysiology of Gaucher disease
-
Wong K, Sidranky 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
Sidranky, E.2
Verma, A.3
-
7
-
-
27844573882
-
Dystonia and parkinsonism in GM1 Type 3 gangliosidosis
-
Roze E, Paschke E, Lopez N, et al. Dystonia and parkinsonism in GM1 Type 3 gangliosidosis. Mov Disord 2005;20:1366-1369.
-
(2005)
Mov Disord
, vol.20
, pp. 1366-1369
-
-
Roze, E.1
Paschke, E.2
Lopez, N.3
-
8
-
-
4444355320
-
GM1-Ganglioside-mediated activation of the unfolded protein response causes neuronal death in a neurodegenerative gangliosidosis
-
Tessitore A, Martin MP, Sano R, et al. GM1-Ganglioside-mediated activation of the unfolded protein response causes neuronal death in a neurodegenerative gangliosidosis. Mol Cell 2004;15:753-766.
-
(2004)
Mol Cell
, vol.15
, pp. 753-766
-
-
Tessitore, A.1
Martin, M.P.2
Sano, R.3
-
9
-
-
0033768411
-
β-Hexosaminidase, α-D-mannosidase, and β-mannosidase expression in serum from patients with carbohydrate-deficient glycoprotein syndrome type I
-
Beccari T, Mancuso F, Costanzi E, et al. β-Hexosaminidase, α-D-mannosidase, and β-mannosidase expression in serum from patients with carbohydrate-deficient glycoprotein syndrome type I. Clin Chim Acta 2000;302:125-132.
-
(2000)
Clin Chim Acta
, vol.302
, pp. 125-132
-
-
Beccari, T.1
Mancuso, F.2
Costanzi, E.3
-
10
-
-
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;395:451.
-
(1998)
Nature
, vol.395
, pp. 451
-
-
Leroy, E.1
Boyer, R.2
Auburger, G.3
-
11
-
-
0031172071
-
Genomic structure of the human lysosomal α-mannosidase gene (MANB)
-
Riise HM, Berg T, Nilssen O, Romeo G, Tollersrud OK, Ceccherini I. Genomic structure of the human lysosomal α-mannosidase gene (MANB). Genomics 1997;42:200-207.
-
(1997)
Genomics
, vol.42
, pp. 200-207
-
-
Riise, H.M.1
Berg, T.2
Nilssen, O.3
Romeo, G.4
Tollersrud, O.K.5
Ceccherini, I.6
-
12
-
-
1442275729
-
Clearance of α-synuclein oligomeric intermediates via the lysosomal degradation pathway
-
Lee HJ, Khoshaghideh F, Patel S, et al. Clearance of α-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
-
13
-
-
85109083933
-
Synuclein implicated in Parkinson's disease is present in extracellular biological fluids including human plasma
-
El-Agnaf OMA, Salem SA, Paleologou KE, et al. Synuclein implicated in Parkinson's disease is present in extracellular biological fluids including human plasma. FASEB J 2003;17:1945-1947.
-
(2003)
FASEB J
, vol.17
, pp. 1945-1947
-
-
El-Agnaf, O.M.A.1
Salem, S.A.2
Paleologou, K.E.3
-
14
-
-
33645833848
-
Detection of oligomeric forms of α-synuclein protein in human plasma as a potential biomarker for Parkinson's disease
-
El-Agnaf OM, Salem SA, Paleologou KE, et al. Detection of oligomeric forms of α-synuclein protein in human plasma as a potential biomarker for Parkinson's disease. FASEB J 2006;20:419-425.
-
(2006)
FASEB J
, vol.20
, pp. 419-425
-
-
El-Agnaf, O.M.1
Salem, S.A.2
Paleologou, K.E.3
-
15
-
-
33748325848
-
Decreased α-synuclein in cerebrospinal fluid of aged individuals and subjects with Parkinson's disease
-
Tokuda T, Salem SA, Allsop D, et al. Decreased α-synuclein in cerebrospinal fluid of aged individuals and subjects with Parkinson's disease. Biochem Biophys Res Commun 2006;349:162-166.
-
(2006)
Biochem Biophys Res Commun
, vol.349
, pp. 162-166
-
-
Tokuda, T.1
Salem, S.A.2
Allsop, D.3
|