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Spinal Muscular Atrophy 5q under the Mask of Myopathy: 10 Clinical Cases by Sergei A. Kurbatov
Published 2021-12-01Get full text
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Late-onset Pompe disease with phenotype of the limb-girdle muscular dystrophy by S. A. Kurbatov, S. S. Nikitin, E. Yu. Zakharova
Published 2015-09-01Get full text
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Infantile and early childhood onset of mitochondrial myopathy due to mutations in the TK2 gene with a phenotype of spinal muscular atrophy 5q: the first cases in Russia by S. A. Kurbatov, P. G. Tsygankova, K. Yu. Mollaeva, I. O. Bychkov, Yu. S. Itkis, V. V. Zabnenkova, Z. R. Umakhanova, L. G. Geybatova, E. Yu. Zakharova
Published 2019-11-01Get full text
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Clinical and genetic characteristics of Charcot–Marie–Tooth disease type 4D (type Lom) in Russia by A. F. Murtazina, O. A. Shchagina, T. B. Milovidova, E. L. Dadali, G. E. Rudenskaya, S. A. Kurbatov, T. V. Fedotova, S. S. Nikitin, P. A. Sparber, M. D. Orlova, A. V. Polyakov
Published 2020-08-01Get full text
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Myotonia and myotonic discharges of dystrophic myotonia type 1 at the first decade onset: a literature review and data of the case series by S. A. Kurbatov, V. M. Kenis, M. V. Savina, I. S. Kleimenova, N. S. Priymak, Yu. V. Kryukov, A. A. Kokorina, N. V. Ryadninskaya, I. A. Kuznetsova, O. A. Shchagina, A. V. Poliakov
Published 2022-06-01Get full text
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A new mutation in the TYMP-gene: clinical and morphological characteristics of a patient with MNGIE syndrome by S. N. Bardakov, I. S. Limaev, A. M. Emelin, V. Nikitins, E. V. Presnyakov, S. A. Kurbatov, P. G. Tsygankova, V. A. Tsargush, I. A. Chekmareva, E. V. Kolmakova, N. V. Bakulina, R. V. Deev
Published 2022-12-01Get full text
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