Skip to main content

2 Result(s)

within P. Rump Remove this filter Human Genetics Remove this filter

and

  1. No Access

    Article

    A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effect

    Mutation analysis was performed in four apparently unrelated Dutch families with pantothenate kinase-associated neurodegeneration, formerly known as Hallervorden-Spatz syndrome. A novel 3-bp deletion encompass...

    P. Rump, H. H. Lemmink, C. C. Verschuuren-Bemelmans, P. M. Grootscholten… in Neurogenetics (2005)

  2. Article

    Open Access

    Male patients affected by mosaic PCDH19 mutations: five new cases

    Pathogenic variants in the PCDH19 gene are associated with epilepsy, intellectual disability (ID) and behavioural disturbances. Only heterozygous females and mosaic males are affected, likely due to a disease mec...

    I. M. de Lange, P. Rump, R. F. Neuteboom, P. B. Augustijn, K. Hodges… in neurogenetics (2017)

    Download PDF (409 KB) View Article