Charles ffrench-Constant

Identification of a mutation that perturbs NF1 agene splicing using genomic DNA samples and a minigene assay

D. Baralle, C. Mattocks, M. Baralle, 2003, Journal of medical genetics.

Festination as the leading symptom of late onset idiopathic aqueductal stenosis.

G. Arunodaya, A. Taly, S. Sinha, 2002, Journal of neurology, neurosurgery, and psychiatry.

Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11–17 distinct from the GAP related domain

P. Tarpey, D. Baralle, M. Bobrow, 2004, Journal of Medical Genetics.