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DNA analysis as a tool to confirm the diagnosis of asymptomatic hereditary neuropathy with liability to pressure palsies (HNPP) with further evidence for the occurrence of de novo mutations.
Gonnaud PM, Sturtz F, Fourbil Y, Bonnebouche C, Tranchant C, Warter JM, Chazot G, Bady B, Vial C, Brechard AS, et al. Gonnaud PM, et al. Among authors: sturtz f. Acta Neurol Scand. 1995 Oct;92(4):313-8. doi: 10.1111/j.1600-0404.1995.tb00135.x. Acta Neurol Scand. 1995. PMID: 8848937
New mutations in the X-linked form of Charcot-Marie-Tooth disease.
Latour P, Fabreguette A, Ressot C, Blanquet-Grossard F, Antoine JC, Calvas P, Chapon F, Corbillon E, Ollagnon E, Sturtz F, Boucherat M, Chazot G, Dautigny A, Pham-Dinh D, Vandenberghe A. Latour P, et al. Among authors: sturtz f. Eur Neurol. 1997;37(1):38-42. doi: 10.1159/000117403. Eur Neurol. 1997. PMID: 9018031 Review.
Missense mutation in exon 11 (Codon 378) of the presenilin-1 gene in a French family with early-onset Alzheimer's disease and transmission study by mismatch enhanced allele specific amplification. Mutations in brief no. 141. Online. besancon@rockefeller1.univ.lyon1.fr.
Besançon R, Lorenzi A, Cruts M, Radawiec S, Sturtz F, Broussolle E, Chazot G, van Broeckhoven C, Chamba G, Vandenberghe A. Besançon R, et al. Among authors: sturtz f. Hum Mutat. 1998;11(6):481. doi: 10.1002/(SICI)1098-1004(1998)11:6<481::AID-HUMU12>3.0.CO;2-Q. Hum Mutat. 1998. PMID: 10200054
113 results