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Träfflista för sökning "WFRF:(Smolina N) "

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1.	Cimiotti, D, et al. (author) Infantile restrictive cardiomyopathy: cTnI-R170G/W impair the interplay of sarcomeric proteins and the integrity of thin filaments 2020 In: PloS one. - : Public Library of Science (PLoS). - 1932-6203. ; 15:3, s. e0229227- Journal article (peer-reviewed)
2.	Cimiotti, D, et al. (author) Modulation of Ca2+-regulatory function by three novel mutations in TNNI3 associated with severe infant restrictive cardiomyopathy 2016 In: ACTA PHYSIOLOGICA. - 1748-1708. ; 111, s. S37-S37 Conference paper (other academic/artistic)
3.	Freylikhman, O, et al. (author) Variants in the NOTCH1 gene in patients with aortic coarctation 2014 In: Congenital heart disease. - : Computers, Materials and Continua (Tech Science Press). - 1747-0803 .- 1747-079X. ; 9:5, s. 391-396 Journal article (peer-reviewed)
4.	Gudkova, A, et al. (author) Diagnostic challenge in desmin cardiomyopathy with transformation of clinical phenotypes 2013 In: Pediatric cardiology. - : Springer Science and Business Media LLC. - 1432-1971 .- 0172-0643. ; 34:2, s. 467-470 Journal article (peer-reviewed)
5.	Ignatieva, E, et al. (author) Skeletal Muscle Mitochondria Dysfunction in Genetic Neuromuscular Disorders with Cardiac Phenotype 2021 In: International journal of molecular sciences. - : MDPI AG. - 1422-0067. ; 22:14 Journal article (peer-reviewed)abstract Mitochondrial dysfunction is considered the major contributor to skeletal muscle wasting in different conditions. Genetically determined neuromuscular disorders occur as a result of mutations in the structural proteins of striated muscle cells and therefore are often combined with cardiac phenotype, which most often manifests as a cardiomyopathy. The specific roles played by mitochondria and mitochondrial energetic metabolism in skeletal muscle under muscle-wasting conditions in cardiomyopathies have not yet been investigated in detail, and this aspect of genetic muscle diseases remains poorly characterized. This review will highlight dysregulation of mitochondrial representation and bioenergetics in specific skeletal muscle disorders caused by mutations that disrupt the structural and functional integrity of muscle cells.
6.	Khudiakov, A, et al. (author) Sodium current abnormalities and deregulation of Wnt/β-catenin signaling in iPSC-derived cardiomyocytes generated from patient with arrhythmogenic cardiomyopathy harboring compound genetic variants in plakophilin 2 gene 2020 In: Biochimica et biophysica acta. Molecular basis of disease. - : Elsevier BV. - 1879-260X .- 0925-4439. ; 1866:11, s. 165915- Journal article (peer-reviewed)
7.	Kiselev, A, et al. (author) De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy 2018 In: Human mutation. - : Hindawi Limited. - 1098-1004 .- 1059-7794. ; 39:9, s. 1161-1172 Journal article (peer-reviewed)
8.	Kiselev, A, et al. (author) Mutation in MYOF gene is associated with ventricular arrhythmias and limb girdle muscle phenotype 2017 In: EUROPEAN HEART JOURNAL. - 0195-668X. ; 38, s. 344-344 Conference paper (other academic/artistic)
9.	Kiselev, A, et al. (author) New variant in CMYA5 gene is associated with early-onset restrictive cardiomyopathy and autism-spectrum disorder 2018 In: CARDIOVASCULAR RESEARCH. - : Oxford University Press (OUP). - 0008-6363 .- 1755-3245. ; 114, s. S19-S19 Conference paper (other academic/artistic)
10.	Kiselev, A, et al. (author) Truncating Variant in Myof Gene Is Associated With Limb-Girdle Type Muscular Dystrophy and Cardiomyopathy 2019 In: Frontiers in genetics. - : Frontiers Media SA. - 1664-8021. ; 10, s. 608- Journal article (peer-reviewed)

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Type of publication: journal article (18); conference paper (9)

Type of content: peer-reviewed (16); other academic/artistic (11)

Author/Editor: Kostareva, A (27); Smolina, N (27); Sejersen, T (20); Sjoberg, G (17); Kiselev, A. (8); Gudkova, A (6); show more...; Shlyakhto, E (5); Bruton, J (4); Malashicheva, A (4); Sergushichev, A. (4); Zhuk, S (3); Gogvadze, V (2); Lindstrand, A (2); Kozyreva, A (2); Sokolnikova, P (2); Fomicheva, Y (2); Pfitzer, G (2); Vaz, R (2); Cimiotti, D (2); Mohner, D (2); Wies, A (2); Mugge, A (2); Stehle, R (2); Jaquet, K (2); Liu, J. (1); Semenov, A. (1); Zhivotovsky, B (1); Nilsson, D (1); Arner, A (1); Edstrom, L (1); Lebedeva, V (1); Lubimtseva, T (1); Moiseeva, O (1); Fedorov, A. (1); Frishman, G (1); Ruepp, A (1); Kuznetsova, I. (1); Bang, ML (1); Bogdanova, M (1); Zabirnyk, A (1); Kazakov, S. (1); Golovljova, I (1); Milting, H (1); Fujita-Becker, S (1); Budde, H (1); Morgenstern, L (1); Nowaczyk, MM (1); Reusch, P (1); Schroder, RR (1); Mannherz, HG (1); show less...

University: Karolinska Institutet (27)

Language: English (27)

Research subject (UKÄ/SCB): Medical and Health Sciences (1)

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