Christa van den Elzen

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

Tony Roscioli, Erik‐Jan Kamsteeg, Karen Buysse et al. · Nature Genetics · 2012 · 212 citations · Full text

Life Sciences, Genetics, Molecular Biology +12

Deficiency of Dol-P-Man Synthase Subunit DPM3 Bridges the Congenital Disorders of Glycosylation with the Dystroglycanopathies

Dirk J. Lefeber, Johannes L. Schönberger, Éva Morava et al. · The American Journal of Human Genetics · 2009 · 198 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +14

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

Karen Buysse, Moniek Riemersma, Gareth T. Powell et al. · Human Molecular Genetics · 2013 · 141 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Jeroen van Reeuwijk, Svetlana Maugenre, Christa van den Elzen et al. · Human Mutation · 2006 · 112 citations

Life Sciences, Genetics, Molecular Genetics +13

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

E. Mariken Ruiter, Marloes H. Siers, Christa van den Elzen et al. · European Journal of Human Genetics · 2006 · 64 citations

Life Sciences, Genetics, Molecular Genetics +14