Salzmann A - Search Results

1

Galanin pathogenic mutations in temporal lobe epilepsy.

Guipponi M, Chentouf A, Webling KE, Freimann K, Crespel A, Nobile C, Lemke JR, Hansen J, Dorn T, Lesca G, Ryvlin P, Hirsch E, Rudolf G, Rosenberg DS, Weber Y, Becker F, Helbig I, Muhle H, Salzmann A, Chaouch M, Oubaiche ML, Ziglio S, Gehrig C, Santoni F, Pizzato M, Langel Ü, Antonarakis SE. Guipponi M, et al. Among authors: salzmann a. Hum Mol Genet. 2015 Jun 1;24(11):3082-91. doi: 10.1093/hmg/ddv060. Epub 2015 Feb 17. Hum Mol Genet. 2015. PMID: 25691535

2

Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy.

Salzmann A, Guipponi M, Lyons PJ, Fricker LD, Sapio M, Lambercy C, Buresi C, Ouled Amar Bencheikh B, Lahjouji F, Ouazzani R, Crespel A, Chaigne D, Malafosse A. Salzmann A, et al. Hum Mutat. 2012 Jan;33(1):124-35. doi: 10.1002/humu.21613. Epub 2011 Oct 31. Hum Mutat. 2012. PMID: 21922598

3

GABA receptor 1 polymorphism (G1465A) and temporal lobe epilepsy.

Salzmann A, Moulard B, Crespel A, Baldy-Moulinier M, Buresi C, Malafosse A. Salzmann A, et al. Epilepsia. 2005 Jun;46(6):931-3. doi: 10.1111/j.1528-1167.2005.40304.x. Epilepsia. 2005. PMID: 15946333 Free article.

4

Candidate genes for temporal lobe epilepsy: a replication study.

Salzmann A, Perroud N, Crespel A, Lambercy C, Malafosse A. Salzmann A, et al. Neurol Sci. 2008 Dec;29(6):397-403. doi: 10.1007/s10072-008-1060-9. Epub 2008 Dec 6. Neurol Sci. 2008. PMID: 19066720

5

Replication of association between a SCN1A splice variant and febrile seizures.

Le Gal F, Salzmann A, Crespel A, Malafosse A. Le Gal F, et al. Among authors: salzmann a. Epilepsia. 2011 Oct;52(10):e135-8. doi: 10.1111/j.1528-1167.2011.03164.x. Epub 2011 Jul 18. Epilepsia. 2011. PMID: 21762453 Free article.

6

Naturally occurring carboxypeptidase A6 mutations: effect on enzyme function and association with epilepsy.

Sapio MR, Salzmann A, Vessaz M, Crespel A, Lyons PJ, Malafosse A, Fricker LD. Sapio MR, et al. Among authors: salzmann a. J Biol Chem. 2012 Dec 14;287(51):42900-9. doi: 10.1074/jbc.M112.414094. Epub 2012 Oct 26. J Biol Chem. 2012. PMID: 23105115 Free PMC article.

7

A new locus on chromosome 22q13.31 linked to recessive genetic epilepsy with febrile seizures plus (GEFS+) in a Tunisian consanguineous family.

Belhedi N, Bena F, Mrabet A, Guipponi M, Souissi CB, Mrabet HK, Elgaaied AB, Malafosse A, Salzmann A. Belhedi N, et al. Among authors: salzmann a. BMC Genet. 2013 Sep 25;14:93. doi: 10.1186/1471-2156-14-93. BMC Genet. 2013. PMID: 24067191 Free PMC article.

8

Functional variant in complement C3 gene promoter and genetic susceptibility to temporal lobe epilepsy and febrile seizures.

Jamali S, Salzmann A, Perroud N, Ponsole-Lenfant M, Cillario J, Roll P, Roeckel-Trevisiol N, Crespel A, Balzar J, Schlachter K, Gruber-Sedlmayr U, Pataraia E, Baumgartner C, Zimprich A, Zimprich F, Malafosse A, Szepetowski P. Jamali S, et al. Among authors: salzmann a. PLoS One. 2010 Sep 16;5(9):e12740. doi: 10.1371/journal.pone.0012740. PLoS One. 2010. PMID: 20862287 Free PMC article.

9

Genetics of temporal lobe epilepsy: a review.

Salzmann A, Malafosse A. Salzmann A, et al. Epilepsy Res Treat. 2012;2012:863702. doi: 10.1155/2012/863702. Epub 2012 Feb 19. Epilepsy Res Treat. 2012. PMID: 22957248 Free PMC article.

10

Genetic linkage study of an autosomal recessive form of juvenile myoclonic epilepsy in a consanguineous Tunisian family.

Layouni S, Salzmann A, Guipponi M, Mouthon D, Chouchane L, Dogui M, Malafosse A. Layouni S, et al. Among authors: salzmann a. Epilepsy Res. 2010 Jun;90(1-2):33-8. doi: 10.1016/j.eplepsyres.2010.03.004. Epub 2010 Apr 7. Epilepsy Res. 2010. PMID: 20378313

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