-
1
-
-
7444237665
-
Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews
-
DOI 10.1056/NEJMoa033277
-
J Aharon-Peretz H Rosenbaum R Gershoni-Baruch 2004 Mutations in glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews N Engl J Med 351 1972 1977 10.1056/NEJMoa033277 10.1056/NEJMoa033277 15525722 1:CAS:528:DC%2BD2cXps1Wksbc%3D (Pubitemid 39447138)
-
(2004)
New England Journal of Medicine
, vol.351
, Issue.19
, pp. 1972-1977
-
-
Aharon-Peretz, J.1
Rosenbaum, H.2
Gershoni-Baruch, R.3
-
2
-
-
40849120549
-
Glucocerebrosidase gene mutations: A risk factor for Lewy body disorders
-
DOI 10.1001/archneurol.2007.68
-
IF Mata A Samii SH Achneer JW Roberts A Griffith BC Leis GD Schellenberg E Sidransky TD Bird JB Leverenz, et al. 2008 Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders Arch Neurol 65 379 382 10.1001/archneurol.2007.68 10.1001/archneurol.2007.68 18332251 (Pubitemid 351398524)
-
(2008)
Archives of Neurology
, vol.65
, Issue.3
, pp. 379-382
-
-
Mata, I.F.1
Samii, A.2
Schneer, S.H.3
Roberts, J.W.4
Griffith, A.5
Leis, B.C.6
Schellenberg, G.D.7
Sidransky, E.8
Bird, T.D.9
Leverenz, J.B.10
Tsuang, D.11
Zabetian, C.P.12
-
3
-
-
67650509100
-
Complete screening for glucocerebrosidase mutations in Parkinson's disease patients from Portugal
-
doi:10.1016/neurobiolaging.2007.11.016
-
Bras J, Paisan-Ruiz C, Guerreiro R, Ribeiro MH, Morgadinho A, Januario C, Sidransky E, Oliveira C, Singelton A (2007) Complete screening for glucocerebrosidase mutations in Parkinson's disease patients from Portugal. Neurobiol Aging. doi: 10.1016/neurobiolaging.2007.11.016
-
(2007)
Neurobiol Aging
-
-
Bras, J.1
Paisan-Ruiz, C.2
Guerreiro, R.3
Ribeiro, M.H.4
Morgadinho, A.5
Januario, C.6
Sidransky, E.7
Oliveira, C.8
Singelton, A.9
-
4
-
-
55949119836
-
Emerging pathways is genetic Parkinson's disease: Potential role of ceramide metabolism in Lewy body disease
-
10.1111/j.1742-4658.2008.06709.x 10.1111/j.1742-4658.2008.06709.x 19021754 1:CAS:528:DC%2BD1cXhsV2mur3I
-
J Bras A Singleton MR Cookson J Hardy 2008 Emerging pathways is genetic Parkinson's disease: potential role of ceramide metabolism in Lewy body disease FEBS J 275 5767 5773 10.1111/j.1742-4658.2008.06709.x 10.1111/j.1742-4658.2008. 06709.x 19021754 1:CAS:528:DC%2BD1cXhsV2mur3I
-
(2008)
FEBS J
, vol.275
, pp. 5767-5773
-
-
Bras, J.1
Singleton, A.2
Cookson, M.R.3
Hardy, J.4
-
5
-
-
60249088182
-
Progressive supranuclear palsy: Clinicopathological concepts and diagnostic challenges
-
10.1016/S1474-4422(09)70042-0 10.1016/S1474-4422(09)70042-0
-
DR Williams AJ Lees 2009 Progressive supranuclear palsy: clinicopathological concepts and diagnostic challenges Lancet Neurol 3 270 279 10.1016/S1474-4422(09)70042-0 10.1016/S1474-4422(09)70042-0
-
(2009)
Lancet Neurol
, vol.3
, pp. 270-279
-
-
Williams, D.R.1
Lees, A.J.2
-
6
-
-
12444296116
-
Gaucher disease with parkinsonian manifestations: Does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?
-
DOI 10.1016/S1096-7192(03)00071-4
-
N Tayebi J Walker B Stubblefield E Orvisky ME LaMarca K Wong H Rosenbaum R Schiffmann B Bembi E Sidransky 2003 Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism? Mol Genet Metab 79 104 109 10.1016/S1096-7192(03)00071-4 10.1016/S1096-7192(03)00071-4 12809640 1:CAS:528:DC%2BD3sXksVGlt78%3D (Pubitemid 36693928)
-
(2003)
Molecular Genetics and Metabolism
, vol.79
, Issue.2
, pp. 104-109
-
-
Tayebi, N.1
Walker, J.2
Stubblefield, B.3
Orvisky, E.4
LaMarca, M.E.5
Wong, K.6
Rosenbaum, H.7
Schiffmann, R.8
Bembi, B.9
Sidransky, E.10
-
7
-
-
45149121675
-
The need for appropriate genotyping strategies for glucocerebrosidase mutations in cohorts with Parkinson disease
-
DOI 10.1001/archneur.65.6.850
-
U Gutti H-C Fung KS Hruska ME LaMarca C-M Chen Y-R Wu E Sidransky 2008 The need for appropriate genotyping strategies for glucocerebrosidase mutations in cohort with Parkinson's disease Arch Neurol 65 6 850 851 10.1001/archneur.65. 6.850 10.1001/archneur.65.6.850 18541817 (Pubitemid 351831475)
-
(2008)
Archives of Neurology
, vol.65
, Issue.6
, pp. 850-851
-
-
Gutti, U.1
Fung, H.-C.2
Hruska, K.S.3
LaMarca, M.E.4
Chen, C.-M.5
Wu, Y.-R.6
Sidransky, E.7
-
8
-
-
54049097933
-
The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations
-
10.1001/archneur.65.10.1353 10.1001/archneur.65.10.1353 18852351
-
O Goker-Alpan G Lopez J Vithayathil J Davis M Hallett E Sidransky 2008 The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations Arch Neurol 65 10 1353 1357 10.1001/archneur.65.10.1353 10.1001/archneur.65.10.1353 18852351
-
(2008)
Arch Neurol
, vol.65
, Issue.10
, pp. 1353-1357
-
-
Goker-Alpan, O.1
Lopez, G.2
Vithayathil, J.3
Davis, J.4
Hallett, M.5
Sidransky, E.6
-
9
-
-
65249115797
-
Glucocerebrosidase mutations in 108 neuropathologically confirmed cases of multiple system atrophy
-
10.1212/01.wnl.0000345356.40399.eb 10.1212/01.wnl.0000345356.40399.eb 19332698 1:STN:280:DC%2BD1M3ksFSjtQ%3D%3D
-
B Segarane A Li R Paudel S Scholz J Neumann A Lees T Revesz J Hardy CJ Mathias NW Wood J Holton H Houlden 2009 Glucocerebrosidase mutations in 108 neuropathologically confirmed cases of multiple system atrophy Neurology 72 1185 1186 10.1212/01.wnl.0000345356.40399.eb 10.1212/01.wnl.0000345356.40399.eb 19332698 1:STN:280:DC%2BD1M3ksFSjtQ%3D%3D
-
(2009)
Neurology
, vol.72
, pp. 1185-1186
-
-
Segarane, B.1
Li, A.2
Paudel, R.3
Scholz, S.4
Neumann, J.5
Lees, A.6
Revesz, T.7
Hardy, J.8
Mathias, C.J.9
Wood, N.W.10
Holton, J.11
Houlden, H.12
-
10
-
-
58149308844
-
Altered lipid metabolism in brain injury and disorders
-
10.1007/978-1-4020-8831-5-9 10.1007/978-1-4020-8831-5-9
-
RM Abidhatia JF Hatcher 2008 Altered lipid metabolism in brain injury and disorders Subcell Biochem 49 241 268 10.1007/978-1-4020-8831-5-9 10.1007/978-1-4020-8831-5-9
-
(2008)
Subcell Biochem
, vol.49
, pp. 241-268
-
-
Abidhatia, R.M.1
Hatcher, J.F.2
|