Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Annick Salzmann"'
Autor:
Amina Chentouf, Mohand Laid Oubaiche, Aicha Dahdouh, Annick Salzmann, Michel Guipponi, Stylianos Antonarakis, Malika Chaouch
Publikováno v:
Journal de la Faculté de Médecine d'Oran, Vol 1, Iss 4 (2022)
Introduction - Several studies have shown a strong relationship between schizophrenia and epilepsy. This association implies a common genetic susceptibility for both conditions. This study aims to identify genetic variants of susceptibility to epilep
Externí odkaz:
https://doaj.org/article/d136881ba74b44f685fc82ba38ab9e6c
Autor:
Sarah Jamali, Annick Salzmann, Nader Perroud, Magali Ponsole-Lenfant, Jennifer Cillario, Patrice Roll, Nathalie Roeckel-Trevisiol, Ariel Crespel, Jorg Balzar, Kurt Schlachter, Ursula Gruber-Sedlmayr, Ekaterina Pataraia, Christoph Baumgartner, Alexander Zimprich, Fritz Zimprich, Alain Malafosse, Pierre Szepetowski
Publikováno v:
PLoS ONE, Vol 5, Iss 9, Pp 3307-3314 (2010)
BACKGROUND: Human mesial temporal lobe epilepsies (MTLE) represent the most frequent form of partial epilepsies and are frequently preceded by febrile seizures (FS) in infancy and early childhood. Genetic associations of several complement genes incl
Externí odkaz:
https://doaj.org/article/1e26a09fcf834f698d4c4f6495722d41
Autor:
Matthew R Sapio, Monique Vessaz, Pierre Thomas, Pierre Genton, Lloyd D Fricker, Annick Salzmann
Publikováno v:
PLoS ONE, Vol 10, Iss 4, p e0123180 (2015)
Carboxypeptidase A6 (CPA6) is a peptidase that removes C-terminal hydrophobic amino acids from peptides and proteins. The CPA6 gene is expressed in the brains of humans and animals, with high levels of expression during development. It is translated
Externí odkaz:
https://doaj.org/article/e17191d978614dd0b98df9c17b0db0d9
Autor:
Stylianos E. Antonarakis, Aicha Dahdouh, Mohand Laid Oubaiche, Annick Salzmann, Amina Chentouf, Michel Guipponi, Malika Chaouch
Publikováno v:
Journal de la faculté de médecine d'Oran. 1
Introduction - Les données cliniques, épidémiologiques et neuropathologiques disponibles suggèrent une forte association entre l’épilepsie et la schizophrénie. Cette association sous entend une vulnérabilité génétique commune à ces deux
Autor:
Dominique Sarah Rosenberg, Mohand Laid Oubaiche, Stylianos E. Antonarakis, Malika Chaouch, Yvonne G. Weber, Carlo Nobile, Ingo Helbig, Corinne Gehrig, Arielle Crespel, Gaetan Lesca, Amina Chentouf, Edouard Hirsch, Felicitas Becker, Massimo Pizzato, Krista Freimann, Annick Salzmann, Philippe Ryvlin, Johannes R. Lemke, Thomas Dorn, Hiltrud Muhle, Federico Santoni, Kristin Webling, Ülo Langel, Michel Guipponi, Gabrielle Rudolf, Jörg Hansen, Serena Ziglio
Publikováno v:
HUMAN MOLECULAR GENETICS
Human Molecular Genetics, Vol. 24, No 11 (2015) pp. 3082-3091
Guipponi, Michel; Chentouf, Amina; Webling, Kristin E.B.; Freimann, Krista; Crespel, Arielle; Nobile, Carlo; Lemke, Johannes R.; Hansen, Jörg; Dorn, Thomas; Lesca, Gaetan; Ryvlin, Philippe; Hirsch, Edouard; Rudolf, Gabrielle; Rosenberg, Dominique Sarah; Weber, Yvonne; Becker, Felicitas; Helbig, Ingo; Muhle, Hiltrud; Salzmann, Annick; Chaouch, Malika; ... (2015). Galanin pathogenic mutations in temporal lobe epilepsy. Human molecular genetics, 24(11), pp. 3082-3091. Oxford University Press 10.1093/hmg/ddv060
Human Molecular Genetics, vol. 24, no. 11, pp. 3082-3091
Human Molecular Genetics, Vol. 24, No 11 (2015) pp. 3082-3091
Guipponi, Michel; Chentouf, Amina; Webling, Kristin E.B.; Freimann, Krista; Crespel, Arielle; Nobile, Carlo; Lemke, Johannes R.; Hansen, Jörg; Dorn, Thomas; Lesca, Gaetan; Ryvlin, Philippe; Hirsch, Edouard; Rudolf, Gabrielle; Rosenberg, Dominique Sarah; Weber, Yvonne; Becker, Felicitas; Helbig, Ingo; Muhle, Hiltrud; Salzmann, Annick; Chaouch, Malika; ... (2015). Galanin pathogenic mutations in temporal lobe epilepsy. Human molecular genetics, 24(11), pp. 3082-3091. Oxford University Press 10.1093/hmg/ddv060
Human Molecular Genetics, vol. 24, no. 11, pp. 3082-3091
Temporal lobe epilepsy (TLE) is a common epilepsy syndrome with a complex etiology. Despite evidence for the participation of genetic factors, the genetic basis of TLE remains largely unknown. A role for the galanin neuropeptide in the regulation of
Autor:
Annick Salzmann, Monique Vessaz, Arielle Crespel, Matthew R. Sapio, Peter J. Lyons, Lloyd D. Fricker, Alain Malafosse
Publikováno v:
Journal of Biological Chemistry. 287:42900-42909
Carboxypeptidase A6 (CPA6) is a member of the A/B subfamily of M14 metallocarboxypeptidases that is expressed in brain and many other tissues during development. Recently, two mutations in human CPA6 were associated with febrile seizures and/or tempo
Autor:
Denys Chaigne, Fatiha Lahjouji, Carmen Lambercy, Arielle Crespel, Matthew R. Sapio, Reda Ouazzani, Bouchra Ouled Amar Bencheikh, Michel Guipponi, Peter J. Lyons, Lloyd D. Fricker, Alain Malafosse, Catherine Buresi, Annick Salzmann
Publikováno v:
Human Mutation. 33:124-135
Febrile seizures (FS) and temporal lobe epilepsy (TLE) were found in four of the seven siblings born to healthy Moroccan consanguineous parents. We hypothesized autosomal recessive (AR) inheritance. Combined linkage analysis and autozygosity mapping
Publikováno v:
Epilepsia. 52:e135-e138
In the present study, we assessed a SCN1A single nucleotide polymorphism (SNP) (rs3812718, IVS5N+5 G>A), first analyzed by Schlachter et al. We genotyped 164 patients with febrile seizures (FS) [of those 62 adults with focal epilepsy (FEFS(+)) and 10
Autor:
Annick Salzmann, Pierre Thomas, Pierre Genton, Monique Vessaz, Matthew R. Sapio, Lloyd D. Fricker
Publikováno v:
PLoS ONE
PLoS ONE, Vol 10, Iss 4, p e0123180 (2015)
PLoS ONE, Vol 10, Iss 4, p e0123180 (2015)
Carboxypeptidase A6 (CPA6) is a peptidase that removes C-terminal hydrophobic amino acids from peptides and proteins. The CPA6 gene is expressed in the brains of humans and animals, with high levels of expression during development. It is translated
Autor:
Annick Salzmann, Catherine Buresi, Arielle Crespel, Alain Malafosse, Michel Baldy-Moulinier, Bruno Moulard
Publikováno v:
Epilepsia. 46:931-933
Summary: Purpose: To reevaluate the genetic contribution of the polymorphism G1465A of the gene coding for γ-aminobutyric acid (GABA)B receptor 1 subunit [GABAB(1)] in a sample of French patients with temporal lobe epilepsy (TLE) and to perform an e