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Results 1-10 of 25 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2008
Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform
Sharma, S.
;
Burdon, K.
;
Dave, A.
;
Jamieson, R.
;
Yaron, Y.
;
Billson, F.
;
van Maldergem, L.
;
Lorenz, B.
;
Gecz, J.
;
Craig, J.
2001
Bovine spongiform encephalopathy and variant Creutzfeldt-Jakob disease: implications for Australia
Goldwater, P.
2004
Transport, enzymatic activity, and stability of mutant sulfamidise (SGSH) identified in patients with mucopolysaccharidosis type III A
Muschol, N.
;
Storch, S.
;
Balhausen, D.
;
Beesley, C.
;
Westermann, J.
;
Gal, A.
;
Ullrich, K.
;
Hopwood, J.
;
Winchester, B.
;
Braulke, T.
2004
Mouse orthologue of ARX, a gene mutated in several X-linked forms of mental retardation and epilepsy, is a marker of adult neural stem cells and forebrain GABAergic neurons
Colombo, E.
;
Galli, R.
;
Cossu, G.
;
Gecz, J.
;
Broccoli, V.
2001
Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase
Litjens, T.
;
Hopwood, J.
2004
Twenty-two novel mutations in the lysosomal a-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II
Hermans, M.
;
van Leenen, D.
;
Kroos, M.
;
Beesley, C.
;
Van der Ploeg, A.
;
Sakuraba, H.
;
Wevers, R.
;
Kleijer, W.
;
Mikelakakis, H.
;
Kirk, E.
;
Fletcher, J.
;
Bosshard, N.
;
Basel-Vanagaite, L.
;
Besley, G.
;
Reuser, A.
2004
Identification and molecular characterization of α-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy
Yogalingam, G.
;
Guo, X.
;
Muller, V.
;
Brooks, D.
;
Clements, P.
;
Kakkis, E.
;
Hopwood, J.
2006
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation
Hagens, O.
;
Dubos, A.
;
Abidi, F.
;
Barbi, G.
;
Van Zutven, L.
;
Hoeltzenbein, M.
;
Tommerup, N.
;
Moraine, C.
;
Fryns, J.
;
Chelly, J.
;
van Bokhoven, H.
;
Gecz, J.
;
Dollfus, H.
;
Ropers, H.
;
Schwartz, C.
;
de Cassia Stocco dos Santos, R.
;
Kalscheuer, V.
;
Hanauer, A.
2008
Maroteaux-Lamy syndrome: Functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene
Garrido, E.
;
Cormand, B.
;
Hopwood, J.
;
Chabas, A.
;
Grinberg, D.
;
Vilageliu, L.
2002
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): A Y210C mutation causes either altered protein handling or altered protein function of N-acetylgalactosamine 4-sulfatase at multiple points in the vacuolar network
Bradford, T.
;
Litjens, T.
;
Parkinson, E.
;
Hopwood, J.
;
Brooks, D.
Discover
Author
12
Hopwood, J.
9
Gecz, J.
6
Brooks, D.
4
Yogalingam, G.
3
Beesley, C.
2
Broccoli, V.
2
Burdon, K.
2
Chabas, A.
2
Cloosterman, D.
2
Garrido, E.
.
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Subject
23
Humans
9
Phenotype
8
Molecular Sequence Data
7
CHO Cells
7
Cricetinae
7
Mice
6
Base Sequence
6
Blotting, Western
6
Cell Line
6
Cells, Cultured
.
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2008
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2005
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2004
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2003
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2002
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2001
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2000