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Page 1
Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series.
Lerat J, Magdelaine C, Roux AF, Darnaud L, Beauvais-Dzugan H, Naud S, Richard L, Derouault P, Ghorab K, Magy L, Vallat JM, Cintas P, Bieth E, Arne-Bes MC, Goizet C, Espil-Taris C, Journel H, Toutain A, Urtizberea JA, Boespflug-Tanguy O, Laffargue F, Corcia P, Pasquier L, Fradin M, Napuri S, Ciron J, Boulesteix JM, Sturtz F, Lia AS. Lerat J, et al. Among authors: sturtz f. Mol Genet Genomic Med. 2019 Sep;7(9):e839. doi: 10.1002/mgg3.839. Epub 2019 Aug 8. Mol Genet Genomic Med. 2019. PMID: 31393079 Free PMC article.
Autosomal-recessive Charcot-Marie-Tooth diseases.
Vallat JM, Tazir M, Magdelaine C, Sturtz F, Grid D. Vallat JM, et al. Among authors: sturtz f. J Neuropathol Exp Neurol. 2005 May;64(5):363-70. doi: 10.1093/jnen/64.5.363. J Neuropathol Exp Neurol. 2005. PMID: 15892292 Review.
[Autosomal recessive forms of Charcot-Marie-Tooth disease].
Vallat JM, Grid D, Magdelaine C, Sturtz F, Levy N, Tazir M. Vallat JM, et al. Among authors: sturtz f. Bull Acad Natl Med. 2005 Jan;189(1):55-68; discussion 68-9. Bull Acad Natl Med. 2005. PMID: 16119880 Review. French.
A highly specific microarray method for point mutation detection.
Baaj Y, Magdelaine C, Ubertelli V, Valat C, Talini L, Soussaline F, Khomyakova E, Funalot B, Vallat JM, Sturtz FG. Baaj Y, et al. Among authors: sturtz fg. Biotechniques. 2008 Jan;44(1):119-26. doi: 10.2144/000112630. Biotechniques. 2008. PMID: 18254389 Free article.
Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations.
Calvo J, Funalot B, Ouvrier RA, Lazaro L, Toutain A, De Mas P, Bouche P, Gilbert-Dussardier B, Arne-Bes MC, Carrière JP, Journel H, Minot-Myhie MC, Guillou C, Ghorab K, Magy L, Sturtz F, Vallat JM, Magdelaine C. Calvo J, et al. Among authors: sturtz f. Arch Neurol. 2009 Dec;66(12):1511-6. doi: 10.1001/archneurol.2009.284. Arch Neurol. 2009. PMID: 20008656
114 results