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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

15 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population.
Méneret A, Grabli D, Depienne C, Gaudebout C, Picard F, Dürr A, Lagroua I, Bouteiller D, Mignot C, Doummar D, Anheim M, Tranchant C, Burbaud P, Jedynak CP, Gras D, Steschenko D, Devos D, Billette de Villemeur T, Vidailhet M, Brice A, Roze E. Méneret A, et al. Among authors: steschenko d. Neurology. 2012 Jul 10;79(2):170-4. doi: 10.1212/WNL.0b013e31825f06c3. Epub 2012 Jun 27. Neurology. 2012. PMID: 22744660
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.
Depienne C, Trouillard O, Bouteiller D, Gourfinkel-An I, Poirier K, Rivier F, Berquin P, Nabbout R, Chaigne D, Steschenko D, Gautier A, Hoffman-Zacharska D, Lannuzel A, Lackmy-Port-Lis M, Maurey H, Dusser A, Bru M, Gilbert-Dussardier B, Roubertie A, Kaminska A, Whalen S, Mignot C, Baulac S, Lesca G, Arzimanoglou A, LeGuern E. Depienne C, et al. Among authors: steschenko d. Hum Mutat. 2011 Jan;32(1):E1959-75. doi: 10.1002/humu.21373. Hum Mutat. 2011. PMID: 21053371 Free PMC article.
Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism.
Couarch P, Vernia S, Gourfinkel-An I, Lesca G, Gataullina S, Fedirko E, Trouillard O, Depienne C, Dulac O, Steschenko D, Leguern E, Sanz P, Baulac S. Couarch P, et al. Among authors: steschenko d. J Mol Med (Berl). 2011 Sep;89(9):915-25. doi: 10.1007/s00109-011-0758-y. Epub 2011 Apr 20. J Mol Med (Berl). 2011. PMID: 21505799 Free PMC article.
Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease.
Lesca G, Boutry-Kryza N, de Toffol B, Milh M, Steschenko D, Lemesle-Martin M, Maillard L, Foletti G, Rudolf G, Nielsen JE, á Rogvi-Hansen B, Erdal J, Mancini J, Thauvin-Robinet C, M'Rrabet A, Ville D, Szepetowski P, Raffo E, Hirsch E, Ryvlin P, Calender A, Genton P. Lesca G, et al. Among authors: steschenko d. Epilepsia. 2010 Sep;51(9):1691-8. doi: 10.1111/j.1528-1167.2010.02692.x. Epub 2010 Aug 5. Epilepsia. 2010. PMID: 20738377 Free article.
A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia.
Arnaud L, Saison C, Helias V, Lucien N, Steschenko D, Giarratana MC, Prehu C, Foliguet B, Montout L, de Brevern AG, Francina A, Ripoche P, Fenneteau O, Da Costa L, Peyrard T, Coghlan G, Illum N, Birgens H, Tamary H, Iolascon A, Delaunay J, Tchernia G, Cartron JP. Arnaud L, et al. Among authors: steschenko d. Am J Hum Genet. 2010 Nov 12;87(5):721-7. doi: 10.1016/j.ajhg.2010.10.010. Epub 2010 Nov 4. Am J Hum Genet. 2010. PMID: 21055716 Free PMC article.
Late effects after hematopoietic stem cell transplantation for β-thalassemia major: the French national experience.
Rahal I, Galambrun C, Bertrand Y, Garnier N, Paillard C, Frange P, Pondarré C, Dalle JH, de Latour RP, Michallet M, Steschenko D, Moshous D, Lutz P, Stephan JL, Rohrlich PS, Yakoub-Agha I, Bernaudin F, Piguet C, Aladjidi N, Badens C, Berger C, Socié G, Dumesnil C, Castex MP, Poirée M, Lambilliotte A, Thomas C, Simon P, Auquier P, Michel G, Loundou A, Agouti I, Thuret I. Rahal I, et al. Among authors: steschenko d. Haematologica. 2018 Jul;103(7):1143-1149. doi: 10.3324/haematol.2017.183467. Epub 2018 Mar 29. Haematologica. 2018. PMID: 29599204 Free PMC article.
Complications and treatment of patients with β-thalassemia in France: results of the National Registry.
Thuret I, Pondarré C, Loundou A, Steschenko D, Girot R, Bachir D, Rose C, Barlogis V, Donadieu J, de Montalembert M, Hagege I, Pegourie B, Berger C, Micheau M, Bernaudin F, Leblanc T, Lutz L, Galactéros F, Siméoni MC, Badens C. Thuret I, et al. Among authors: steschenko d. Haematologica. 2010 May;95(5):724-9. doi: 10.3324/haematol.2009.018051. Epub 2009 Dec 8. Haematologica. 2010. PMID: 20007138 Free PMC article.
15 results