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The First Russian Patient with Native American Myopathy.
Genes (Basel). 2022 Feb 13;13(2):341. doi: 10.3390/genes13020341.
Genes (Basel). 2022.
PMID: 35205385
Free PMC article.
A Mosaic Mutation in the LAMA2 Gene in a Case of Merosin-deficient Congenital Muscular Dystrophy.
Chausova PA, Ryzhkova OP, Rudenskaya GE, Chernykh VB, Shchagina OA, Polyakov AV.
Chausova PA, et al.
Front Genet. 2021 Oct 29;12:686800. doi: 10.3389/fgene.2021.686800. eCollection 2021.
Front Genet. 2021.
PMID: 34777456
Free PMC article.
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Pilot Program of Newborn Screening for 5q Spinal Muscular Atrophy in the Russian Federation.
Mikhalchuk K, Shchagina O, Chukhrova A, Zabnenkova V, Chausova P, Ryadninskaya N, Vlodavets D, Kutsev SI, Polyakov A.
Mikhalchuk K, et al. Among authors: chausova p.
Int J Neonatal Screen. 2023 May 16;9(2):29. doi: 10.3390/ijns9020029.
Int J Neonatal Screen. 2023.
PMID: 37218894
Free PMC article.
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X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the MTM1 Gene.
Chausova P, Murtazina A, Stepanova A, Borovicov A, Kovalskaia V, Ryadninskaya N, Chukhrova A, Ryzhkova O, Poliakov A.
Chausova P, et al.
Int J Mol Sci. 2023 May 7;24(9):8409. doi: 10.3390/ijms24098409.
Int J Mol Sci. 2023.
PMID: 37176116
Free PMC article.
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The Presentation of Two Unrelated Clinical Cases from the Republic of North Ossetia-Alania with the Same Previously Undescribed Variant in the COL6A2 Gene.
Ionova SA, Murtazina AF, Tebieva IS, Getoeva ZK, Dadali EL, Chausova PA, Shchagina OA, Marakhonov AV, Kutsev SI, Zinchenko RA.
Ionova SA, et al. Among authors: chausova pa.
Int J Mol Sci. 2022 Oct 12;23(20):12127. doi: 10.3390/ijms232012127.
Int J Mol Sci. 2022.
PMID: 36292982
Free PMC article.
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