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17 results

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Page 1
Inferring disease course from differential exon usage in the wide titinopathy spectrum.
Di Feo MF, Oghabian A, Nippala E, Gautel M, Jungbluth H, Forzano F, Malfatti E, Castiglioni C, Krey I, Gomez Andres D, Brady AF, Iascone M, Cereda A, Pezzani L, Natera De Benito D, Nascimiento Osorio A, Estévez Arias B, Kurbatov SA, Attie-Bitach T, Nampoothiri S, Ryan E, Morrow M, Gorokhova S, Chabrol B, Sinisalo J, Tolppanen H, Tolva J, Munell F, Camacho Soriano J, Sanchez Duran MA, Johari M, Tajsharghi H, Hackman P, Udd B, Savarese M. Di Feo MF, et al. Among authors: kurbatov sa. Ann Clin Transl Neurol. 2024 Oct;11(10):2745-2755. doi: 10.1002/acn3.52189. Epub 2024 Aug 28. Ann Clin Transl Neurol. 2024. PMID: 39198997 Free PMC article.
Expanding the importance of HMERF titinopathy: new mutations and clinical aspects.
Palmio J, Leonard-Louis S, Sacconi S, Savarese M, Penttilä S, Semmler AL, Kress W, Mozaffar T, Lai T, Stojkovic T, Berardo A, Reisin R, Attarian S, Urtizberea A, Cobo AM, Maggi L, Kurbatov S, Nikitin S, Milisenda JC, Fatehi F, Raimondi M, Silveira F, Hackman P, Claeys KG, Udd B. Palmio J, et al. J Neurol. 2019 Mar;266(3):680-690. doi: 10.1007/s00415-019-09187-2. Epub 2019 Jan 21. J Neurol. 2019. PMID: 30666435 Free PMC article.
Genetic spectrum of sarcoglycanopathies in a cohort of Russian patients.
Bulakh M, Polyakova D, Dadali E, Rudenskaya G, Sharkova I, Markova T, Murtazina A, Demina N, Kurbatov S, Nikitina N, Udalova V, Polyakov A, Ryzhkova O. Bulakh M, et al. Gene. 2024 Nov 15;927:148680. doi: 10.1016/j.gene.2024.148680. Epub 2024 Jun 12. Gene. 2024. PMID: 38876406
[Molecular genetic diagnosis of Stargardt disease].
Sheremet NL, Zhorzholadze NV, Ronzina IA, Grushke IG, Kurbatov SA, Chukhrova AL, Loginova AN, Shcherbakova PO, Tanas AS, Polyakov AV, Strel'nikov VV. Sheremet NL, et al. Among authors: kurbatov sa. Vestn Oftalmol. 2017;133(4):4-11. doi: 10.17116/oftalma201713344-11. Vestn Oftalmol. 2017. PMID: 28980559 Free article. Russian.
[Autosomal dominant spastic paraplegias].
Rudenskaya GE, Kadnikova VA, Bessonova LA, Sparber PA, Kurbatov SA, Mironovich OL, Konovalov FA, Ryzhkova OP. Rudenskaya GE, et al. Among authors: kurbatov sa. Zh Nevrol Psikhiatr Im S S Korsakova. 2021;121(5):75-87. doi: 10.17116/jnevro202112105175. Zh Nevrol Psikhiatr Im S S Korsakova. 2021. PMID: 34184482 Russian.
Mitochondrial DNA maintenance disorders in 102 patients from different parts of Russia: Mutational spectrum and phenotypes.
Bychkov IO, Itkis YS, Tsygankova PG, Krylova TD, Mikhaylova SV, Klyushnikov SA, Pechatnikova NL, Degtyareva AV, Nikolaeva EA, Seliverstov YA, Kurbatov SA, Dadali EL, Rudenskaya GE, Illarioshkin SN, Zakharova EY. Bychkov IO, et al. Among authors: kurbatov sa. Mitochondrion. 2021 Mar;57:205-212. doi: 10.1016/j.mito.2021.01.004. Epub 2021 Jan 21. Mitochondrion. 2021. PMID: 33486010
[Masks hiding mitochondrial neurogastrointestinal encephalomyopathy. Case report].
Maev IV, Kolmakova EV, Bardakov SN, Deev RV, Krivolapov YA, Kotkas IE, Manushina EA, Kurbatov SA, Tsygankova PG, Emelin AM, Bakulina NV. Maev IV, et al. Among authors: kurbatov sa. Ter Arkh. 2022 Oct 12;94(8):992-998. doi: 10.26442/00403660.2022.08.201833. Ter Arkh. 2022. PMID: 36286980 Russian.
17 results