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Issue Date
Title
Author(s)
1997
Mutations among Italian mucopolysaccharidosis Type I patients
Gatti, R.
;
Di Natale, P.
;
Villani, G.
;
Filocamo, M.
;
Muller, V.
;
Guo, X.H.
;
Nelson, P.
;
Scott, H.
;
Hopwood, J.
2002
Phenotypic rescue after adeno-associated virus-mediated delivery of 4-sulfatase to the retinal pigment epithelium of feline mucopolysaccharidosis VI
Ho, T.
;
Maguire, A.
;
Aguirre, G.
;
Surace, E.
;
Anand, V.
;
Zeng, Y.
;
Salvetti, A.
;
Hopwood, J.
;
Haskins, M.
;
Bennett, J.
2001
Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications
Yogalingam, G.
;
Hopwood, J.
2012
KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy
Weckhuysen, S.
;
Mandelstam, S.
;
Suls, A.
;
Audenaert, D.
;
Deconinck, T.
;
Claes, L.
;
Deprez, L.
;
Smets, K.
;
Hristova, D.
;
Yordanova, I.
;
Jordanova, A.
;
Ceulemans, B.
;
Jansen, A.
;
Hasaerts, D.
;
Roelens, F.
;
Lagae, L.
;
Yendle, S.
;
Stanley, T.
;
Heron, S.
;
Mulley, J.
;
et al.
1995
The molecular genetics of mucopolysaccharidosis type I : Diagnostic, clinical and biological implications
Scott, H.
;
Bunge, S.
;
Gal, A.
;
Clarke, L.
;
Morris, C.
;
Hopwood, J.
2001
Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase
Litjens, T.
;
Hopwood, J.
2009
In Vitro Differentiation of Human Calvarial Suture Derived Cells With and Without Dexamethasione Does Not Induce In Vivo-Like Expression
Coussens, A.
;
Hughes, I.
;
Morris, C.
;
Powell, B.
;
Anderson, P.
2007
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX Consortium
de Brouwer, A.
;
Yntema, H.
;
Kleefstra, T.
;
Lugtenberg, D.
;
Oudakker, A.
;
de Vries, B.
;
van Bokhoven, H.
;
Van Esch, H.
;
Frints, S.
;
Froyen, G.
;
Fryns, J.
;
Raynaud, M.
;
Moizard, M.
;
Ronce, N.
;
Bensalem, A.
;
Moraine, C.
;
Poirier, K.
;
Castelnau, L.
;
Saillour, Y.
;
Bienvenu, T.
;
et al.
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.
Discover
Author
22
Hopwood, J.
19
Gecz, J.
10
et al.
7
Haan, E.
6
Scheffer, I.
6
Yogalingam, G.
5
Brooks, D.
5
Mulley, J.
5
Weber, B.
4
Berkovic, S.
.
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Subject
67
Humans
37
Male
34
Mutation
27
Female
22
Animals
20
Genotype
18
Child
16
Adult
14
Child, Preschool
13
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1995 - 1999