Alice Steinbrecher

Das Walker-Warburg-Syndrom : eine immunhistochemische Studie zur Entstehung der Lissenzephalie Typ-II / (2000)

Steinbrecher, Alice.

Berlin, Freie Univ., Diss., 2000.

Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome

Beltrán-Valero de Bernabé, Daniel, Currier, Sophie, Steinbrecher, Alice, Celli, Jacopo, Van Beusekom, Ellen, Van der Zwaag, Bert, ...

Walker-Warburg syndrome (WWS) is an autosomal recessive developmental disorder characterized by congenital muscular dystrophy and complex brain and eye abnormalities. A similar combination of...

Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome

Reeuwijk, Jeroen, Grewal, Prabhjit K., Salih, Mustafa A.M., Beltrán-Valero De Bernabé, Daniel, McLaughlan, Jenny M., Michielse, Caroline B., ...

Intragenic homozygous deletions in the Large gene are associated with a severe neuromuscular phenotype in the myodystrophy (myd) mouse. These mutations result in a virtual lack of glycosylation of...