TRA2B Gene Splice Variant Linked to Seizures and Neurodevelopmental Delay: A Second Case Study
Shatokhina, Olga, Kovalskaia, Valeriia, Sparber, Peter, Sharkova, Inna, Mishina, Irina, Kuznetsova, Vera, Ryzhkova, Oxana
Published in International journal of molecular sciences (01.11.2023)
Published in International journal of molecular sciences (01.11.2023)
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Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum
Marakhonov, Andrey V., Tabakov, Vyacheslav Yu, Zernov, Nikolay V., Dadali, Elena L., Sharkova, Inna V., Skoblov, Mikhail Yu
Published in Gene (25.09.2018)
Published in Gene (25.09.2018)
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Case report: Unusual episodic myopathy in a patient with novel homozygous deletion of first coding exon of MICU1 gene
Sharova, Margarita, Skoblov, Mikhail, Dadali, Elena, Demina, Nina, Shchagina, Olga, Konovalov, Fedor, Ampleeva, Maria, Sharkova, Inna, Kutsev, Sergey
Published in Frontiers in neurology (08.11.2022)
Published in Frontiers in neurology (08.11.2022)
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Identification of a Novel Indel Variant in the DARS2 Gene in Russian Patients with Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
Bostanova, Fatima M, Tsygankova, Polina G, Larshina, Elena A, Nagornov, Ilya O, Evseeva, Yulia V, Krutikhina, Irina L, Dzhentemirova, Marina E, Kashlakova, Marina N, Petukhova, Marina S, Sharkova, Inna V, Zakharova, Ekaterina Y
Published in Genes (11.05.2024)
Published in Genes (11.05.2024)
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Genetic and Clinical Spectrum of GNE Myopathy in Russia
Murtazina, Aysylu, Nikitin, Sergey, Rudenskaya, Galina, Sharkova, Inna, Borovikov, Artem, Sparber, Peter, Shchagina, Olga, Chukhrova, Alena, Ryzhkova, Oksana, Shatokhina, Olga, Orlova, Anna, Udalova, Vasilisa, Kanivets, Ilya, Korostelev, Sergey, Polyakov, Alexander, Dadali, Elena, Kutsev, Sergey
Published in Genes (31.10.2022)
Published in Genes (31.10.2022)
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Mild phenotype of CHAT -associated congenital myasthenic syndrome: case series
Murtazina, Aysylu, Borovikov, Artem, Marakhonov, Andrey, Sharkov, Artem, Sharkova, Inna, Mirzoyan, Alena, Kulikova, Sviatlana, Ganieva, Ralina, Zabnenkova, Viktoriia, Ryzhkova, Oksana, Nikitin, Sergey, Dadali, Elena, Kutsev, Sergey
Published in Frontiers in pediatrics (18.01.2024)
Published in Frontiers in pediatrics (18.01.2024)
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A case of pseudodominant inheritance of limb-girdle muscular dystrophy caused by mutations in the CAPN3 gene
Sharkova, Inna V., Bulakh, Maria V., Bessonova, Liudmila А., Shchagina, Olga A., Dadaly, Elena L.
Published in Annaly kliničeskoj i èksperimentalʹnoj nevrologii (Online) (04.10.2021)
Published in Annaly kliničeskoj i èksperimentalʹnoj nevrologii (Online) (04.10.2021)
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ITRA2B/I Gene Splice Variant Linked to Seizures and Neurodevelopmental Delay: A Second Case Study
Shatokhina, Olga, Kovalskaia, Valeriia, Sparber, Peter, Sharkova, Inna, Mishina, Irina, Kuznetsova, Vera, Ryzhkova, Oxana
Published in International journal of molecular sciences (01.10.2023)
Published in International journal of molecular sciences (01.10.2023)
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Genetic spectrum of sarcoglycanopathies in a cohort of Russian patients
Bulakh, Maria, Polyakova, Daria, Dadali, Elena, Rudenskaya, Galina, Sharkova, Inna, Markova, Tatiana, Murtazina, Aysylu, Demina, Nina, Kurbatov, Sergei, Nikitina, Natalia, Udalova, Vasilisa, Polyakov, Aleksander, Ryzhkova, Oxana
Published in Gene (15.11.2024)
Published in Gene (15.11.2024)
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Retrospective analysis of 17 patients with mitochondrial membrane protein-associated neurodegeneration diagnosed in Russia
Sparber, Peter, Krylova, Tatiana, Repina, Svetlana, Demina, Nina, Rudenskaya, Galina, Sharkova, Inna, Sharkov, Artem, Kadyshev, Vitaly, Kanivets, Ilya, Korostelev, Sergey, Pomerantseva, Ekaterina, Kaimonov, Vladimir, Mikhailova, Svetlana, Zakharova, Ekaterina, Skoblov, Mikhail
Published in Parkinsonism & related disorders (01.03.2021)
Published in Parkinsonism & related disorders (01.03.2021)
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Identification of a Novel Indel Variant in the IDARS2/I Gene in Russian Patients with Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
Bostanova, Fatima M, Tsygankova, Polina G, Larshina, Elena A, Nagornov, Ilya O, Evseeva, Yulia V, Krutikhina, Irina L, Dzhentemirova, Marina E, Kashlakova, Marina N, Petukhova, Marina S, Sharkova, Inna V, Zakharova, Ekaterina Y
Published in Genes (01.05.2024)
Published in Genes (01.05.2024)
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Journal Article
TRA2B Gene Splice Variant Linked to Seizures and Neurodevelopmental Delay: A Second Case Study
Shatokhina, Olga, Kovalskaia, Valeriia, Sparber, Peter, Sharkova, Inna, Mishina, Irina, Kuznetsova, Vera, Ryzhkova, Oxana
Published in International journal of molecular sciences (25.10.2023)
Published in International journal of molecular sciences (25.10.2023)
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Mild phenotype of CHAT-associated congenital myasthenic syndrome: case series
Murtazina, Aysylu, Borovikov, Artem, Marakhonov, Andrey, Sharkov, Artem, Sharkova, Inna, Mirzoyan, Alena, Kulikova, Sviatlana, Ganieva, Ralina, Zabnenkova, Viktoriia, Ryzhkova, Oksana, Nikitin, Sergey, Dadali, Elena, Kutsev, Sergey
Published in Frontiers in pediatrics (01.01.2024)
Published in Frontiers in pediatrics (01.01.2024)
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Case report: Unusual episodic myopathy in a patient with novel homozygous deletion of first coding exon of MICU1 gene
Sharova, Margarita, Skoblov, Mikhail, Dadali, Elena, Demina, Nina, Shchagina, Olga, Konovalov, Fedor, Ampleeva, Maria, Sharkova, Inna, Kutsev, Sergey
Published in Frontiers in neurology (01.01.2022)
Published in Frontiers in neurology (01.01.2022)
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