Associated Papers
Legius syndrome mutations in the Ras-regulator SPRED1 abolish its membrane localization and potentially cause neurodegeneration.
Hirata Y et al.
The Journal of Biological Chemistry, 2024
Legius syndrome, an Update. Molecular pathology of mutations in SPRED1.
Brems H et al.
The Keio Journal of Medicine, 2013
Review and update of SPRED1 mutations causing Legius syndrome.
Brems H et al.
Human Mutation, 2012
A shared molecular mechanism underlies the human rasopathies Legius syndrome and Neurofibromatosis-1.
Stowe IB et al.
Genes & Development, 2012
Identification of five novel SPRED1 germline mutations in Legius syndrome.
Laycock-van Spyk S et al.
Clinical Genetics, 2011
Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
Messiaen L et al.
Jama, 2009
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