-
1
-
-
79955424976
-
Gaucher disease
-
McGraw-Hill, New York, D. Valle, A.L. Beaudet, B. Vogelstein, K.W. Kinzler, S.E. Antonarakis, A. Ballabio, W.S. Sly (Eds.)
-
Grabowski G.A., Petsko G.A., Kolodny E. Gaucher disease. The Metabolic and Molecular Bases of Inherited Disease 2010, McGraw-Hill, New York. http://genetics.accessmedicine.com, D. Valle, A.L. Beaudet, B. Vogelstein, K.W. Kinzler, S.E. Antonarakis, A. Ballabio, W.S. Sly (Eds.).
-
(2010)
The Metabolic and Molecular Bases of Inherited Disease
-
-
Grabowski, G.A.1
Petsko, G.A.2
Kolodny, E.3
-
2
-
-
39549119956
-
Gaucher disease: phenotypic and genetic variation
-
McGraw-Hill, New York, C. Scriver, A. Beaudet, W. Sly, D. Valle (Eds.)
-
Grabowski G.A., Kolodny E.H., Weinreb N.J., Rosenbloom B.E., Prakash-Cheng A., Kaplan P., Charrow J., Pastores G.M., Mistry P.K. Gaucher disease: phenotypic and genetic variation. The Metabolic and Molecular Bases of Inherited Diseases 2006, McGraw-Hill, New York. http://genetics.accessmedicine.com, C. Scriver, A. Beaudet, W. Sly, D. Valle (Eds.).
-
(2006)
The Metabolic and Molecular Bases of Inherited Diseases
-
-
Grabowski, G.A.1
Kolodny, E.H.2
Weinreb, N.J.3
Rosenbloom, B.E.4
Prakash-Cheng, A.5
Kaplan, P.6
Charrow, J.7
Pastores, G.M.8
Mistry, P.K.9
-
3
-
-
70350319531
-
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease
-
Sidransky E., Nalls M.A., Aasly J.O., Aharon-Peretz J., Annesi G., Barbosa E.R., Bar-Shira A., Berg D., Bras J., Brice A., Chen C.M., Clark L.N., Condroyer C., De Marco E.V., Durr A., Eblan M.J., Fahn S., Farrer M.J., Fung H.C., Gan-Or Z., Gasser T., Gershoni-Baruch R., Giladi N., Griffith A., Gurevich T., Januario C., Kropp P., Lang A.E., Lee-Chen G.J., Lesage S., Marder K., Mata I.F., Mirelman A., Mitsui J., Mizuta I., Nicoletti G., Oliveira C., Ottman R., Orr-Urtreger A., Pereira L.V., Quattrone A., Rogaeva E., Rolfs A., Rosenbaum H., Rozenberg R., Samii A., Samaddar T., Schulte C., Sharma M., Singleton A., Spitz M., Tan E.K., Tayebi N., Toda T., Troiano A.R., Tsuji S., Wittstock M., Wolfsberg T.G., Wu Y.R., Zabetian C.P., Zhao Y., Ziegler S.G. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. The NEJM 2009, 361:1651-1661.
-
(2009)
The NEJM
, vol.361
, pp. 1651-1661
-
-
Sidransky, E.1
Nalls, M.A.2
Aasly, J.O.3
Aharon-Peretz, J.4
Annesi, G.5
Barbosa, E.R.6
Bar-Shira, A.7
Berg, D.8
Bras, J.9
Brice, A.10
Chen, C.M.11
Clark, L.N.12
Condroyer, C.13
De Marco, E.V.14
Durr, A.15
Eblan, M.J.16
Fahn, S.17
Farrer, M.J.18
Fung, H.C.19
Gan-Or, Z.20
Gasser, T.21
Gershoni-Baruch, R.22
Giladi, N.23
Griffith, A.24
Gurevich, T.25
Januario, C.26
Kropp, P.27
Lang, A.E.28
Lee-Chen, G.J.29
Lesage, S.30
Marder, K.31
Mata, I.F.32
Mirelman, A.33
Mitsui, J.34
Mizuta, I.35
Nicoletti, G.36
Oliveira, C.37
Ottman, R.38
Orr-Urtreger, A.39
Pereira, L.V.40
Quattrone, A.41
Rogaeva, E.42
Rolfs, A.43
Rosenbaum, H.44
Rozenberg, R.45
Samii, A.46
Samaddar, T.47
Schulte, C.48
Sharma, M.49
Singleton, A.50
Spitz, M.51
Tan, E.K.52
Tayebi, N.53
Toda, T.54
Troiano, A.R.55
Tsuji, S.56
Wittstock, M.57
Wolfsberg, T.G.58
Wu, Y.R.59
Zabetian, C.P.60
Zhao, Y.61
Ziegler, S.G.62
more..
-
4
-
-
60549098601
-
Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset
-
Nichols W.C., Pankratz N., Marek D.K., Pauciulo M.W., Elsaesser V.E., Halter C.A., Rudolph A., Wojcieszek J., Pfeiffer R.F., Foroud T. Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset. Neurology 2009, 72:310-316.
-
(2009)
Neurology
, vol.72
, pp. 310-316
-
-
Nichols, W.C.1
Pankratz, N.2
Marek, D.K.3
Pauciulo, M.W.4
Elsaesser, V.E.5
Halter, C.A.6
Rudolph, A.7
Wojcieszek, J.8
Pfeiffer, R.F.9
Foroud, T.10
-
5
-
-
80052028927
-
Exploring the link between glucocerebrosidase mutations and parkinsonism
-
Westbroek W., Gustafson A.M., Sidransky E. Exploring the link between glucocerebrosidase mutations and parkinsonism. Trends Mol. Med. 2011, 17:485-493.
-
(2011)
Trends Mol. Med.
, vol.17
, pp. 485-493
-
-
Westbroek, W.1
Gustafson, A.M.2
Sidransky, E.3
-
6
-
-
80052531666
-
The enigma of the E326K mutation in acid β-glucocerebrosidase
-
Horowitz M., Pasmanik-Chor M., Ron I., Kolodny E.H. The enigma of the E326K mutation in acid β-glucocerebrosidase. Mol. Genet. Metab. 2011, 104:35-38.
-
(2011)
Mol. Genet. Metab.
, vol.104
, pp. 35-38
-
-
Horowitz, M.1
Pasmanik-Chor, M.2
Ron, I.3
Kolodny, E.H.4
-
7
-
-
0036461424
-
The E326K mutation and Gaucher disease: mutation or polymorphism?
-
Park J.K., Tayebi N., Stubblefield B.K., LaMarca M.E., MacKenzie J.J., Stone D.L., Sidransky E. The E326K mutation and Gaucher disease: mutation or polymorphism?. Clin. Genet. 2002, 61:32-34.
-
(2002)
Clin. Genet.
, vol.61
, pp. 32-34
-
-
Park, J.K.1
Tayebi, N.2
Stubblefield, B.K.3
LaMarca, M.E.4
MacKenzie, J.J.5
Stone, D.L.6
Sidransky, E.7
-
8
-
-
2642562168
-
Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: pathogenic changes and "modifier" polymorphisms
-
Montfort M., Chabas A., Vilageliu L., Grinberg D. Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: pathogenic changes and "modifier" polymorphisms. Hum. Mutat. 2004, 23:567-575.
-
(2004)
Hum. Mutat.
, vol.23
, pp. 567-575
-
-
Montfort, M.1
Chabas, A.2
Vilageliu, L.3
Grinberg, D.4
-
9
-
-
33645243798
-
Analyses of variant acid β-glucosidases: effects of Gaucher disease mutations
-
Liou B., Kazimierczuk A., Zhang M., Scott C.R., Hegde R.S., Grabowski G.A. Analyses of variant acid β-glucosidases: effects of Gaucher disease mutations. J. Biol. Chem. 2006, 281:4242-4253.
-
(2006)
J. Biol. Chem.
, vol.281
, pp. 4242-4253
-
-
Liou, B.1
Kazimierczuk, A.2
Zhang, M.3
Scott, C.R.4
Hegde, R.S.5
Grabowski, G.A.6
-
10
-
-
0042354624
-
X-ray structure of human acid-β-glucosidase, the defective enzyme in Gaucher disease
-
Dvir H., Harel M., McCarthy A.A., Toker L., Silman I., Futerman A.H., Sussman J.L. X-ray structure of human acid-β-glucosidase, the defective enzyme in Gaucher disease. EMBO Rep. 2003, 4:704-709.
-
(2003)
EMBO Rep.
, vol.4
, pp. 704-709
-
-
Dvir, H.1
Harel, M.2
McCarthy, A.A.3
Toker, L.4
Silman, I.5
Futerman, A.H.6
Sussman, J.L.7
-
11
-
-
33646548592
-
Characterization of neuronopathic Gaucher disease among ethnic poles
-
Tylki-Szymañska A., Keddache M., Grabowski G.A. Characterization of neuronopathic Gaucher disease among ethnic poles. Genet. Med. 2006, 8:8-15.
-
(2006)
Genet. Med.
, vol.8
, pp. 8-15
-
-
Tylki-Szymañska, A.1
Keddache, M.2
Grabowski, G.A.3
-
12
-
-
0042632599
-
Gaucher's disease: identification of novel mutant alleles and genotype-phenotype relationships
-
Zhao H., Bailey L., Arnold G.L., Grabowski G.A. Gaucher's disease: identification of novel mutant alleles and genotype-phenotype relationships. Clin. Genet. 2003, 64:57-64.
-
(2003)
Clin. Genet.
, vol.64
, pp. 57-64
-
-
Zhao, H.1
Bailey, L.2
Arnold, G.L.3
Grabowski, G.A.4
|