Search Results - S. A. Kurbatov

Spinal Muscular Atrophy 5q under the Mask of Myopathy: 10 Clinical Cases by Sergei A. Kurbatov

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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

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Spectrum of sonographic changes in hereditary motor and sensory neuropathy with autosomal dominant and X-linked inheritance by E. S. Naumova, D. S. Druzhinin, S. S. Nikitin, S. A. Kurbatov

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Development of the thermostrengthening regimes of reinforcing steel No 25-36 in conditions of mill 320 of the Belurussian metallurgical works by V. I. Shcherbakov, G. A. Kurbatov, V. A. Tishchenko

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A case of Becker myotonia with pseudodominant inheritance: сurrent approaches to the differential diagnosis of Thomsen’s and Becker's myotonia congenita by S. A. Kurbatov, S. S. Nikitin, S. N. Illarioshkin, P. Gundorova, A. V. Polyakov

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Differential diagnosis of mitochondrial neurogastrointestinal encephalomyopathy. First clinical description in Russia by S. A. Kurbatov, V. P. Fedotov, P. G. Tsygankova, E. Y. Zakharova, S. N. Lipovka

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A familial case of segregation of motor sensory neuropathy type 1B with multiple exostoses in monozygous twins by V. P. Fedotov, S. A. Kurbatov, S. S. Nikitin, T. B. Milovidova, N. M. Galeeva, A. V. Polyakov

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Clinical and electromyographic criteria for the diagnosis of hereditary myotonic syndromes by V. P. Fedotov, S. A. Kurbatov, E. A. Ivanova, N. M. Galeeva, A. V. Polyakov

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Clinical and genetic characteristics of autosomal recessive axonal neuropathy with neuromyotonia in Russian patients by E. L. Dadali, S. S. Nikitin, S. A. Kurbatov, A. F. Murtazina, I. V. Sharkova, O. A. Shchagina, F. A. Konovalov

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A case of hereditary motor and sensory neuropathy type IVA with unusual genealogy by S. A. Kurbatov, T. B. Milovidova, V. P. Fedotov, A. F. Murtazina, G. E. Rudenskaya, O. A. Shchagina, A. V. Polyakov

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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

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SPECTRUM OF MOLECULAR GENETIC ALTERATIONS AND DIVERSITY OF CLINICAL FORMS OF STARGARDT DISEASE by N. L. Sheremet, I. G. Grushke, N. V. Zhorzholadze, I. A. Ronzina, A. A. Mikaelyan, S. A. Kurbatov, V. V. Kadyshev, K. I. Anoshkin, V. V. Strelnikov

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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

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Cognitive and emotional disturbances in adult patients with myotonic dystrophy type 1 by E. K. Erokhina, K. V. Shamtieva, E. A. Melnik, D. O. Kazakov, S. A. Kurbatov, E. P. Pavlikova, O. A. Tikhonova, E. A. Mershina, V. E. Sinitsyn, D. V. Vlodavets

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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

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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

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