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Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia.
Ducros A, Denier C, Joutel A, Vahedi K, Michel A, Darcel F, Madigand M, Guerouaou D, Tison F, Julien J, Hirsch E, Chedru F, Bisgård C, Lucotte G, Després P, Billard C, Barthez MA, Ponsot G, Bousser MG, Tournier-Lasserve E. Ducros A, et al. Among authors: denier c. Am J Hum Genet. 1999 Jan;64(1):89-98. doi: 10.1086/302192. Am J Hum Genet. 1999. PMID: 9915947 Free PMC article.
High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2.
Denier C, Ducros A, Vahedi K, Joutel A, Thierry P, Ritz A, Castelnovo G, Deonna T, Gérard P, Devoize JL, Gayou A, Perrouty B, Soisson T, Autret A, Warter JM, Vighetto A, Van Bogaert P, Alamowitch S, Roullet E, Tournier-Lasserve E. Denier C, et al. Neurology. 1999 Jun 10;52(9):1816-21. doi: 10.1212/wnl.52.9.1816. Neurology. 1999. PMID: 10371528
Mutations within the MGC4607 gene cause cerebral cavernous malformations.
Denier C, Goutagny S, Labauge P, Krivosic V, Arnoult M, Cousin A, Benabid AL, Comoy J, Frerebeau P, Gilbert B, Houtteville JP, Jan M, Lapierre F, Loiseau H, Menei P, Mercier P, Moreau JJ, Nivelon-Chevallier A, Parker F, Redondo AM, Scarabin JM, Tremoulet M, Zerah M, Maciazek J, Tournier-Lasserve E; Société Française de Neurochirurgie. Denier C, et al. Am J Hum Genet. 2004 Feb;74(2):326-37. doi: 10.1086/381718. Epub 2004 Jan 22. Am J Hum Genet. 2004. PMID: 14740320 Free PMC article.
Clinical features of cerebral cavernous malformations patients with KRIT1 mutations.
Denier C, Labauge P, Brunereau L, Cavé-Riant F, Marchelli F, Arnoult M, Cecillon M, Maciazek J, Joutel A, Tournier-Lasserve E; Sociéte Française de Neurochirgurgie; Sociéte de Neurochirurgie de Langue Française. Denier C, et al. Ann Neurol. 2004 Feb;55(2):213-20. doi: 10.1002/ana.10804. Ann Neurol. 2004. PMID: 14755725
175 results