-
1
-
-
84940437391
-
Candidate genes for Parkinson disease: lessons from pathogenesis
-
[1] De Rosa, P., Marini, E.S., Gelmetti, V., Valente, E.M., Candidate genes for Parkinson disease: lessons from pathogenesis. Clin. Chim. Acta Int. J. Clin. Chem. 449 (2015), 68–76.
-
(2015)
Clin. Chim. Acta Int. J. Clin. Chem.
, vol.449
, pp. 68-76
-
-
De Rosa, P.1
Marini, E.S.2
Gelmetti, V.3
Valente, E.M.4
-
2
-
-
84878911804
-
The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease
-
[2] Gan-Or, Z., Ozelius, L.J., Bar-Shira, A., Saunders-Pullman, R., Mirelman, A., Kornreich, R., Gana-Weisz, M., Raymond, D., Rozenkrantz, L., Deik, A., Gurevich, T., Gross, S.J., Schreiber-Agus, N., Giladi, N., Bressman, S.B., Orr-Urtreger, A., The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease. Neurology 80:17 (2013), 1606–1610.
-
(2013)
Neurology
, vol.80
, Issue.17
, pp. 1606-1610
-
-
Gan-Or, Z.1
Ozelius, L.J.2
Bar-Shira, A.3
Saunders-Pullman, R.4
Mirelman, A.5
Kornreich, R.6
Gana-Weisz, M.7
Raymond, D.8
Rozenkrantz, L.9
Deik, A.10
Gurevich, T.11
Gross, S.J.12
Schreiber-Agus, N.13
Giladi, N.14
Bressman, S.B.15
Orr-Urtreger, A.16
-
3
-
-
84897018661
-
The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease
-
[3] Wu, R.M., Lin, C.H., Lin, H.I., The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease. Neurology, 82(3), 2014, 283.
-
(2014)
Neurology
, vol.82
, Issue.3
, pp. 283
-
-
Wu, R.M.1
Lin, C.H.2
Lin, H.I.3
-
4
-
-
84884126614
-
Rare lysosomal enzyme gene SMPD1 variant (p.R591C) associates with Parkinson's disease
-
e13-5
-
[4] Foo, J.N., Liany, H., Bei, J.X., Yu, X.Q., Liu, J., Au, W.L., Prakash, K.M., Tan, L.C., Tan, E.K., Rare lysosomal enzyme gene SMPD1 variant (p.R591C) associates with Parkinson's disease. Neurobiol. Aging, 34(12), 2013, 2890 e13-5.
-
(2013)
Neurobiol. Aging
, vol.34
, Issue.12
, pp. 2890
-
-
Foo, J.N.1
Liany, H.2
Bei, J.X.3
Yu, X.Q.4
Liu, J.5
Au, W.L.6
Prakash, K.M.7
Tan, L.C.8
Tan, E.K.9
-
5
-
-
84940614604
-
The contribution of Niemann-Pick SMPD1 mutations to Parkinson disease in Ashkenazi Jews
-
[5] Dagan, E., Schlesinger, I., Ayoub, M., Mory, A., Nassar, M., Kurolap, A., Peretz-Aharon, J., Gershoni-Baruch, R., The contribution of Niemann-Pick SMPD1 mutations to Parkinson disease in Ashkenazi Jews. Park. Relat. Disord. 21:9 (2015), 1067–1071.
-
(2015)
Park. Relat. Disord.
, vol.21
, Issue.9
, pp. 1067-1071
-
-
Dagan, E.1
Schlesinger, I.2
Ayoub, M.3
Mory, A.4
Nassar, M.5
Kurolap, A.6
Peretz-Aharon, J.7
Gershoni-Baruch, R.8
-
6
-
-
84943627548
-
Association study between SMPD1 p.L302P and sporadic Parkinson's disease in ethnic Chinese population
-
[6] Li, K., Tang, B.S., Yang, N.N., Kang, J.F., Liu, Z.H., Liu, R.Q., et al. Association study between SMPD1 p.L302P and sporadic Parkinson's disease in ethnic Chinese population. Int. J. Clin. Exp. Med. 8 (2015), 13869–13873.
-
(2015)
Int. J. Clin. Exp. Med.
, vol.8
, pp. 13869-13873
-
-
Li, K.1
Tang, B.S.2
Yang, N.N.3
Kang, J.F.4
Liu, Z.H.5
Liu, R.Q.6
-
7
-
-
84941729757
-
Systematic genetic analysis of the SMPD1 gene in Chinese patients with Parkinson's disease
-
Sep
-
[7] Deng, S., Deng, X., Song, Z., Xiu, X., Guo, Y., Xiao, J., Deng, H., Systematic genetic analysis of the SMPD1 gene in Chinese patients with Parkinson's disease. Mol. Neurobiol. 53:7 (Sep 2016), 5025–5029.
-
(2016)
Mol. Neurobiol.
, vol.53
, Issue.7
, pp. 5025-5029
-
-
Deng, S.1
Deng, X.2
Song, Z.3
Xiu, X.4
Guo, Y.5
Xiao, J.6
Deng, H.7
-
8
-
-
84925872815
-
Four novel p.N385K, p.V36A, c.1033-1034insT and c.1417-1418delCT mutations in the sphingomyelin Phosphodiesterase 1 (SMPD1) gene in patients with types A and B Niemann-Pick disease (NPD)
-
[8] Manshadi, M.D., Kamalidehghan, B., Keshavarzi, F., Aryani, O., Dadgar, S., Arastehkani, A., et al. Four novel p.N385K, p.V36A, c.1033-1034insT and c.1417-1418delCT mutations in the sphingomyelin Phosphodiesterase 1 (SMPD1) gene in patients with types A and B Niemann-Pick disease (NPD). Int. J. Mol. Sci. 16 (2015), 6668–6676.
-
(2015)
Int. J. Mol. Sci.
, vol.16
, pp. 6668-6676
-
-
Manshadi, M.D.1
Kamalidehghan, B.2
Keshavarzi, F.3
Aryani, O.4
Dadgar, S.5
Arastehkani, A.6
-
9
-
-
84942105873
-
Systemic lupus erythematosus occurring in a patient with Niemann-Pick type B disease
-
[9] Murgia, G., Firinu, D., Meleddu, R., Lorrai, M.M., Manconi, P.E., Del Giacco, S.R., Systemic lupus erythematosus occurring in a patient with Niemann-Pick type B disease. Lupus 24 (2015), 1332–1334.
-
(2015)
Lupus
, vol.24
, pp. 1332-1334
-
-
Murgia, G.1
Firinu, D.2
Meleddu, R.3
Lorrai, M.M.4
Manconi, P.E.5
Del Giacco, S.R.6
-
10
-
-
0026577992
-
Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1)
-
[10] Schuchman, E.H., Levran, O., Pereira, L.V., Desnick, R.J., Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1). Genomics 12:2 (1992), 197–205.
-
(1992)
Genomics
, vol.12
, Issue.2
, pp. 197-205
-
-
Schuchman, E.H.1
Levran, O.2
Pereira, L.V.3
Desnick, R.J.4
-
11
-
-
0028944481
-
A novel polymorphism in the human acid sphingomyelinase gene due to size variation of the signal peptide region
-
[11] Wan, Q., Schuchman, E.H., A novel polymorphism in the human acid sphingomyelinase gene due to size variation of the signal peptide region. Biochim. Biophys. Acta 1270 (1995), 207–210.
-
(1995)
Biochim. Biophys. Acta
, vol.1270
, pp. 207-210
-
-
Wan, Q.1
Schuchman, E.H.2
-
12
-
-
84908619827
-
Secretion of acid Sphingomyelinase is affected by its polymorphic signal peptide
-
[12] Rhein, C., Reichel, M., Muhle, C., Rotter, A., Schwab, S.G., Kornhuber, J., Secretion of acid Sphingomyelinase is affected by its polymorphic signal peptide. Cell. Physiol. Biochem. Int. J. Exp. Cell. Physiol. Biochem. Pharmacol. 34 (2014), 1385–1401.
-
(2014)
Cell. Physiol. Biochem. Int. J. Exp. Cell. Physiol. Biochem. Pharmacol.
, vol.34
, pp. 1385-1401
-
-
Rhein, C.1
Reichel, M.2
Muhle, C.3
Rotter, A.4
Schwab, S.G.5
Kornhuber, J.6
|