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Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of ?-dystroglycan.
Published in:
Nature Genetics, 2012, v. 44, n. 5, p. 581, doi. 10.1038/ng.2253
By:
- Roscioli, Tony;
- Kamsteeg, Erik-Jan;
- Buysse, Karen;
- Maystadt, Isabelle;
- van Reeuwijk, Jeroen;
- van den Elzen, Christa;
- van Beusekom, Ellen;
- Riemersma, Moniek;
- Pfundt, Rolph;
- Vissers, Lisenka E L M;
- Schraders, Margit;
- Altunoglu, Umut;
- Buckley, Michael F;
- Brunner, Han G;
- Grisart, Bernard;
- Zhou, Huiqing;
- Veltman, Joris A;
- Gilissen, Christian;
- Mancini, Grazia M S;
- Delrée, Paul
Publication type:
Article
The mitochondrial 13513G>A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff–Parkinson–White.
Published in:
European Journal of Human Genetics, 2007, v. 15, n. 2, p. 155, doi. 10.1038/sj.ejhg.5201735
By:
- Ruiter, E. Mariken;
- Siers, Marloes H.;
- van den Elzen, Christa;
- van Engelen, Baziel G.;
- Smeitink, Jan A. M.;
- Rodenburg, Richard J.;
- Hol, Frans A.
Publication type:
Article
Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker–Warburg syndrome.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 9, p. 1746, doi. 10.1093/hmg/ddt021
By:
- Buysse, Karen;
- Riemersma, Moniek;
- Powell, Gareth;
- van Reeuwijk, Jeroen;
- Chitayat, David;
- Roscioli, Tony;
- Kamsteeg, Erik-Jan;
- van den Elzen, Christa;
- van Beusekom, Ellen;
- Blaser, Susan;
- Babul-Hirji, Riyana;
- Halliday, William;
- Wright, Gavin J.;
- Stemple, Derek L.;
- Lin, Yung-Yao;
- Lefeber, Dirk J.;
- van Bokhoven, Hans
Publication type:
Article
The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.
Published in:
Human Mutation, 2006, v. 27, n. 5, p. 453, doi. 10.1002/humu.20313
By:
- van Reeuwijk, Jeroen;
- Maugenre, Svetlana;
- van den Elzen, Christa;
- Verrips, Aad;
- Bertini, Enrico;
- Muntoni, Francesco;
- Merlini, Luciano;
- Scheffer, Hans;
- Brunner, Han G.;
- Guicheney, Pascale;
- van Bokhoven, Hans
Publication type:
Article

Found: 4

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of ?-dystroglycan.

The mitochondrial 13513G>A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff–Parkinson–White.

Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker–Warburg syndrome.

The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.