Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

78 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.
De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri N, Szepetowski P, Hammadouche T, Vandenberghe A, Stewart CL, Grid D, Lévy N. De Sandre-Giovannoli A, et al. Among authors: szepetowski p. Am J Hum Genet. 2002 Mar;70(3):726-36. doi: 10.1086/339274. Epub 2002 Jan 17. Am J Hum Genet. 2002. PMID: 11799477 Free PMC article.
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. Among authors: szepetowski p. 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
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: szepetowski 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
Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome.
Caraballo R, Pavek S, Lemainque A, Gastaldi M, Echenne B, Motte J, Genton P, Cersósimo R, Humbertclaude V, Fejerman N, Monaco AP, Lathrop MG, Rochette J, Szepetowski P. Caraballo R, et al. Among authors: szepetowski p. Am J Hum Genet. 2001 Mar;68(3):788-94. doi: 10.1086/318805. Epub 2001 Feb 13. Am J Hum Genet. 2001. PMID: 11179027 Free PMC article.
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: szepetowski 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
Molecular genetics of human bladder carcinomas.
Perucca D, Szepetowski P, Simon MP, Gaudray P. Perucca D, et al. Among authors: szepetowski p. Cancer Genet Cytogenet. 1990 Oct 15;49(2):143-56. doi: 10.1016/0165-4608(90)90136-x. Cancer Genet Cytogenet. 1990. PMID: 2208052 Review.
78 results