Search Results - "Shatunov, Alexey"

Myotilinopathy: refining the clinical and myopathological phenotype by Olivé, Montse, Goldfarb, Lev G., Shatunov, Alexey, Fischer, Dirk, Ferrer, Isidro

“…Mutations in myotilin gene (MYOT) have been associated with variable syndromes including limb girdle muscular dystrophy type 1A (LGMD1A) and a subgroup of…”
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Numerical modeling of induction heating systems with load of azimuthal periodicity by Mannanov, Emil, Galunin, Sergei, Shatunov, Alexey

“…The paper presents developed numerical modelling methodology of induction heating problems of disks with a simple and complex profile in 3D for calculating the…”
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Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy by Kaminska, Anna, Strelkov, Sergei V, Goudeau, Bertrand, Olivé, Montse, Dagvadorj, Ayush, Fidzianska, Anna, Simon-Casteras, Monique, Shatunov, Alexey, Dalakas, Marinos C, Ferrer, Isidro, Kwiecinski, Hubert, Vicart, Patrick, Goldfarb, Lev G

“…Desmin ( DES) mutations have been recognized as a cause of desmin-related myopathy (OMIM 601419), or desminopathy, a disease characterized by progressive limb…”
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Computer Modeling in Preparatory Work for the Olympiad Within the Framework of the Discipline «Theoretical Foundations of Electrical Engineering by Zubarev, Aleksandr V., Kondakov, Aleksandr V., Shatunov, Alexey N., Trusova, Ekaterina S.

“…Annual Olympiads in various specialized subjects are held for students by different higher education institutions to find talented youth, develop students'…”
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Does Thrombosis Play a Causal Role in Lacunar Stroke and Cerebral Small Vessel Disease? by Koohi, Fatemeh, Harshfield, Eric L, Shatunov, Alexey, Markus, Hugh S

“…The importance of thromboembolism in the pathogenesis of lacunar stroke (LS), resulting from cerebral small vessel disease (cSVD), is debated, and although…”
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Computer Modeling as a Learning Instrument in a Distance Learning Format Using the Example of Calculating a Three-Phase Circuit by Zubarev, Aleksandr V., Shatunov, Alexey N., Kondakov, Aleksandr V., Trusova, Ekaterina S.

“…The article deals with the problem of distance learning of technical sciences in the framework of the course in theoretical foundations of electrical…”
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Spontaneous mutations in the prion protein gene causing transmissible spongiform encephalopathy by Dagvadorj, Ayush, Petersen, Robert B., Lee, Hee Suk, Cervenakova, Larisa, Shatunov, Alexey, Budka, Herbert, Brown, Paul, Gambetti, Pierluigi, Goldfarb, Lev G.

“…We analyzed the prion protein gene (PRNP) region in patients with transmissible spongiform encephalopathy associated with the PRNP D178N mutation. The results…”
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Electrical Circuits Simulation in free GPL Software by Shatunov, Alexey N., Zubarev, Aleksandr V., Yermekova, Madina, Shurdukova, Olga I.

“…The article demonstrates the capabilities of the Qucs program used in the educational process of Electrotechnical Universities. The use of free software in…”
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The Impact of Long-Term Hypoxia on the Antioxidant Defense System in the Siberian Frog Rana amurensis by Shekhovtsov, Sergei V., Vorontsova, Yana L., Slepneva, Irina A., Smirnov, Dmitry N., Khrameeva, Ekaterina E., Shatunov, Alexey, Poluboyarova, Tatiana V., Bulakhova, Nina A., Meshcheryakova, Ekaterina N., Berman, Daniil I., Glupov, Viktor V.

“…The Siberian frog Rana amurensis has a uniquely high tolerance to hypoxia among amphibians, as it is able to withstand several months underwater with almost no…”
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Inclusion body myositis with human immunodeficiency virus infection: Four cases with clonal expansion of viral-specific T cells by Dalakas, Marinos C., Rakocevic, Goran, Shatunov, Alexey, Goldfarb, Lev, Raju, Raghavan, Salajegheh, Mohammad

“…Objective Sporadic inclusion body myositis (sIBM), a common adult‐onset myositis, is characterized by an antigen‐driven inflammatory response and vacuolar…”
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Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23 by Shatunov, Alexey, Sambuughin, Nyamkhishig, Jankovic, Joseph, Elble, Rodger, Lee, Hee Suk, Singleton, Andrew B., Dagvadorj, Ayush, Ji, Jay, Zhang, Yiping, Kimonis, Virginia E., Hardy, John, Hallett, Mark, Goldfarb, Lev G.

“…Essential tremor (ET) is the most prevalent adult-onset movement disorder showing evidence of non-random accumulation in some families. ET has previously been…”
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Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy by Olivé, Montse, Odgerel, Zagaa, Martínez, Amaia, Poza, Juan José, Bragado, Federico García, Zabalza, Ramón J, Jericó, Ivonne, Gonzalez-Mera, Laura, Shatunov, Alexey, Lee, Hee Suk, Armstrong, Judith, Maraví, Elías, Arroyo, Maria Ramos, Pascual-Calvet, Jordi, Navarro, Carmen, Paradas, Carmen, Huerta, Mariano, Marquez, Fabian, Rivas, Eduardo Gutierrez, Pou, Adolf, Ferrer, Isidre, Goldfarb, Lev G

“…Abstract Myofibrillar myopathies (MFM) are a group of disorders associated with mutations in DES , CRYAB , MYOT , ZASP , FLNC , or BAG3 genes and characterized…”
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Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin by Piñol-Ripoll, Gerard, Shatunov, Alexey, Cabello, Ana, Larrodé, Pilar, de la Puerta, Iris, Pelegrín, Juana, Ramos, Feliciano J, Olivé, Montse, Goldfarb, Lev G

“…Abstract Desminopathy is a genetically heterogeneous disorder with autosomal dominant pattern of inheritance in most affected families; the age of disease…”
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Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies by Bär, Harald, Goudeau, Bertrand, Wälde, Sarah, Casteras-Simon, Monique, Mücke, Norbert, Shatunov, Alexey, Goldberg, Y. Paul, Clarke, Charles, Holton, Janice L., Eymard, Bruno, Katus, Hugo A., Fardeau, Michel, Goldfarb, Lev, Vicart, Patrick, Herrmann, Harald

“…Myofibrillar myopathy (MFM) encompasses a genetically heterogeneous group of human diseases caused by mutations in genes coding for structural proteins of…”
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In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy by SHATUNOV, Alexey, OLIVE, Montse, STRAUB, Volker, HILTON-JONES, David, DAMIAN, Maxwell S, KAMINSKA, Anna, VICART, Patrick, BUSHBY, Kate, DALAKAS, Marinos C, SAMBUUGHIN, Nyamkhishig, FERRER, Isidro, GOEBEL, Hans H, ODGEREL, Zagaa, GOLDFARB, Lev G, STADELMANN-NESSLER, Christine, IRLBACHER, Kerstin, VAN LANDEGHEM, Frank, BAYARSAIKHAN, Munkhuu, LEE, Hee-Suk, GOUDEAU, Bertrand, CHINNERY, Patrick F

“…Myofibrillar myopathies (MFMs) are an expanding and increasingly recognized group of neuromuscular disorders caused by mutations in DES, CRYAB, MYOT, and ZASP…”
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Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient by Olivé, Montse, Shatunov, Alexey, Gonzalez, Laura, Carmona, Olga, Moreno, Dolores, Quereda, Lidia Gonzalez, Martinez-Matos, J.A, Goldfarb, Lev G, Ferrer, Isidro

“…Abstract A 27-year-old woman of Moldavian origin presented at the age of 15 with progressive proximal limb weakness and painful cramps in her calf muscles…”
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Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation by Pruszczyk, Piotr, Kostera-Pruszczyk, Anna, Shatunov, Alexey, Goudeau, Bertrand, Dramiñska, Agnieszka, Takeda, Kazuyo, Sambuughin, Nyamkhishig, Vicart, Patrick, Strelkov, Sergei V, Goldfarb, Lev G, Kamiñska, Anna

“…Abstract Background According to the predominant view, desmin mutations cause dilated cardiomyopathy (DCM). We evaluated a family with restrictive…”
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Hypoglycosylation of α-dystroglycan in patients with hereditary IBM due to GNE mutations by Huizing, Marjan, Rakocevic, Goran, Sparks, Susan E, Mamali, Ioanna, Shatunov, Alexey, Goldfarb, Lev, Krasnewich, Donna, Gahl, William A, Dalakas, Marinos C

“…Hereditary inclusion body myopathy (HIBM) is an adult onset neuromuscular disorder associated with mutations in the gene UDP- N-acetylglucosamine-2-epimerase/…”
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Clinical and myopathological characteristics of desminopathy caused by a mutation in desmin tail domain by Maddison, Paul, Damian, Maxwell S, Sewry, Caroline, McGorrian, Catherine, Winer, John B, Odgerel, Zagaa, Shatunov, Alexey, Lee, Hee Suk, Goldfarb, Lev G

“…Most of the previously described pathogenic mutations in desmin are located in highly conserved α-helical domains that play an important role in intermediate…”
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Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene by Olivé, Montse, Armstrong, Judith, Miralles, Francesc, Pou, Adolf, Fardeau, Michel, Gonzalez, Laura, Martínez, Francesca, Fischer, Dirk, Martínez Matos, Juan Antonio, Shatunov, Alexey, Goldfarb, Lev, Ferrer, Isidre

“…Abstract Desminopathy represents a subgroup of myofibrillar myopathies caused by mutations in the desmin gene. Three novel disease-associated mutations in the…”
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