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Year Number of Results
2006 2
2007 3
2008 2
2009 3
2011 3
2012 1
2020 2
2024 0

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Page 1
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: fedirko e. 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.
Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia.
Depienne C, Fedirko E, Forlani S, Cazeneuve C, Ribaï P, Feki I, Tallaksen C, Nguyen K, Stankoff B, Ruberg M, Stevanin G, Durr A, Brice A. Depienne C, et al. Among authors: fedirko e. J Med Genet. 2007 Apr;44(4):281-4. doi: 10.1136/jmg.2006.046425. Epub 2006 Nov 10. J Med Genet. 2007. PMID: 17098887 Free PMC article.
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.
Klebe S, Depienne C, Gerber S, Challe G, Anheim M, Charles P, Fedirko E, Lejeune E, Cottineau J, Brusco A, Dollfus H, Chinnery PF, Mancini C, Ferrer X, Sole G, Destée A, Mayer JM, Fontaine B, de Seze J, Clanet M, Ollagnon E, Busson P, Cazeneuve C, Stevanin G, Kaplan J, Rozet JM, Brice A, Durr A. Klebe S, et al. Among authors: fedirko e. Brain. 2012 Oct;135(Pt 10):2980-93. doi: 10.1093/brain/aws240. Brain. 2012. PMID: 23065789 Free PMC article.
REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.
Goizet C, Depienne C, Benard G, Boukhris A, Mundwiller E, Solé G, Coupry I, Pilliod J, Martin-Négrier ML, Fedirko E, Forlani S, Cazeneuve C, Hannequin D, Charles P, Feki I, Pinel JF, Ouvrard-Hernandez AM, Lyonnet S, Ollagnon-Roman E, Yaouanq J, Toutain A, Dussert C, Fontaine B, Leguern E, Lacombe D, Durr A, Rossignol R, Brice A, Stevanin G. Goizet C, et al. Among authors: fedirko e. Hum Mutat. 2011 Oct;32(10):1118-27. doi: 10.1002/humu.21542. Epub 2011 Sep 9. Hum Mutat. 2011. PMID: 21618648
Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.
Clot F, Grabli D, Cazeneuve C, Roze E, Castelnau P, Chabrol B, Landrieu P, Nguyen K, Ponsot G, Abada M, Doummar D, Damier P, Gil R, Thobois S, Ward AJ, Hutchinson M, Toutain A, Picard F, Camuzat A, Fedirko E, Sân C, Bouteiller D, LeGuern E, Durr A, Vidailhet M, Brice A; French Dystonia Network. Clot F, et al. Among authors: fedirko e. Brain. 2009 Jul;132(Pt 7):1753-63. doi: 10.1093/brain/awp084. Epub 2009 Jun 2. Brain. 2009. PMID: 19491146
A systematic review of the smartphone applications available for coronavirus disease 2019 (COVID19) and their assessment using the mobile app rating scale (MARS).
Davalbhakta S, Advani S, Kumar S, Agarwal V, Bhoyar S, Fedirko E, Misra D, Goel A, Gupta L, Agarwal V. Davalbhakta S, et al. Among authors: fedirko e. medRxiv [Preprint]. 2020 Jul 4:2020.07.02.20144964. doi: 10.1101/2020.07.02.20144964. medRxiv. 2020. Update in: J Med Syst. 2020 Aug 10;44(9):164. doi: 10.1007/s10916-020-01633-3. PMID: 32637969 Free PMC article. Updated. Preprint.
14 results