Roll P - Search Results

1

Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective.

Cau P, Navarro C, Harhouri K, Roll P, Sigaudy S, Kaspi E, Perrin S, De Sandre-Giovannoli A, Lévy N. Cau P, et al. Among authors: roll p. Semin Cell Dev Biol. 2014 May;29:125-47. doi: 10.1016/j.semcdb.2014.03.021. Epub 2014 Mar 22. Semin Cell Dev Biol. 2014. PMID: 24662892 Review.

2

New human sodium/glucose cotransporter gene (KST1): identification, characterization, and mutation analysis in ICCA (infantile convulsions and choreoathetosis) and BFIC (benign familial infantile convulsions) families.

Roll P, Massacrier A, Pereira S, Robaglia-Schlupp A, Cau P, Szepetowski P. Roll P, et al. Gene. 2002 Feb 20;285(1-2):141-8. doi: 10.1016/s0378-1119(02)00416-x. Gene. 2002. PMID: 12039040

3

Complete loss of the cytoplasmic carboxyl terminus of the KCNQ2 potassium channel: a novel mutation in a large Czech pedigree with benign neonatal convulsions or other epileptic phenotypes.

Pereira S, Roll P, Krizova J, Genton P, Brazdil M, Kuba R, Cau P, Rektor I, Szepetowski P. Pereira S, et al. Among authors: roll p. Epilepsia. 2004 Apr;45(4):384-90. doi: 10.1111/j.0013-9580.2004.47703.x. Epilepsia. 2004. PMID: 15030501 Free article.

4

Severe epilepsy, retardation, and dysmorphic features with a 2q deletion including SCN1A and SCN2A.

Pereira S, Vieira JP, Barroca F, Roll P, Carvalhas R, Cau P, Sequeira S, Genton P, Szepetowski P. Pereira S, et al. Among authors: roll p. Neurology. 2004 Jul 13;63(1):191-2. doi: 10.1212/01.wnl.0000132844.20654.c1. Neurology. 2004. PMID: 15249644 No abstract available.

5

Large-scale expression study of human mesial temporal lobe epilepsy: evidence for dysregulation of the neurotransmission and complement systems in the entorhinal cortex.

Jamali S, Bartolomei F, Robaglia-Schlupp A, Massacrier A, Peragut JC, Régis J, Dufour H, Ravid R, Roll P, Pereira S, Royer B, Roeckel-Trevisiol N, Fontaine M, Guye M, Boucraut J, Chauvel P, Cau P, Szepetowski P. Jamali S, et al. Among authors: roll p. Brain. 2006 Mar;129(Pt 3):625-41. doi: 10.1093/brain/awl001. Epub 2006 Jan 6. Brain. 2006. PMID: 16399808

6

SRPX2 mutations in disorders of language cortex and cognition.

Roll P, Rudolf G, Pereira S, Royer B, Scheffer IE, Massacrier A, Valenti MP, Roeckel-Trevisiol N, Jamali S, Beclin C, Seegmuller C, Metz-Lutz MN, Lemainque A, Delepine M, Caloustian C, de Saint Martin A, Bruneau N, Depétris D, Mattéi MG, Flori E, Robaglia-Schlupp A, Lévy N, Neubauer BA, Ravid R, Marescaux C, Berkovic SF, Hirsch E, Lathrop M, Cau P, Szepetowski P. Roll P, et al. Hum Mol Genet. 2006 Apr 1;15(7):1195-207. doi: 10.1093/hmg/ddl035. Epub 2006 Feb 23. Hum Mol Genet. 2006. PMID: 16497722

7

[Role of DNA microarrays in the diagnosis of pleural exudates: a feasibility study].

Greillier L, Roll P, Barlesi F, Robaglia-Schlupp A, Fraticelli A, Cau P, Astoul P. Greillier L, et al. Among authors: roll p. Rev Mal Respir. 2007 Sep;24(7):859-67. doi: 10.1016/s0761-8425(07)91388-1. Rev Mal Respir. 2007. PMID: 17925668 French.

8

Molecular evolution of the human SRPX2 gene that causes brain disorders of the Rolandic and Sylvian speech areas.

Royer B, Soares DC, Barlow PN, Bontrop RE, Roll P, Robaglia-Schlupp A, Blancher A, Levasseur A, Cau P, Pontarotti P, Szepetowski P. Royer B, et al. Among authors: roll p. BMC Genet. 2007 Oct 18;8:72. doi: 10.1186/1471-2156-8-72. BMC Genet. 2007. PMID: 17942002 Free PMC article.

9

Nuclear localization of a novel human syntaxin 1B isoform.

Pereira S, Massacrier A, Roll P, Vérine A, Etienne-Grimaldi MC, Poitelon Y, Robaglia-Schlupp A, Jamali S, Roeckel-Trevisiol N, Royer B, Pontarotti P, Lévêque C, Seagar M, Lévy N, Cau P, Szepetowski P. Pereira S, et al. Among authors: roll p. Gene. 2008 Nov 1;423(2):160-71. doi: 10.1016/j.gene.2008.07.010. Epub 2008 Jul 17. Gene. 2008. PMID: 18691641

10

Epileptic and developmental disorders of the speech cortex: ligand/receptor interaction of wild-type and mutant SRPX2 with the plasminogen activator receptor uPAR.

Royer-Zemmour B, Ponsole-Lenfant M, Gara H, Roll P, Lévêque C, Massacrier A, Ferracci G, Cillario J, Robaglia-Schlupp A, Vincentelli R, Cau P, Szepetowski P. Royer-Zemmour B, et al. Among authors: roll p. Hum Mol Genet. 2008 Dec 1;17(23):3617-30. doi: 10.1093/hmg/ddn256. Epub 2008 Aug 21. Hum Mol Genet. 2008. PMID: 18718938

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