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Case Report: Two Families With HPDL Related Neurodegeneration.
Front Genet. 2022 Feb 9;13:780764. doi: 10.3389/fgene.2022.780764. eCollection 2022.
Front Genet. 2022.
PMID: 35222531
Free PMC article.
CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-related.
Mroczek M, Inashkina I, Stavusis J, Zayakin P, Khrunin A, Micule I, Kenina V, Zdanovica A, Zídková J, Fajkusová L, Limborska S, van der Kooi AJ, Brusse E, Leonardis L, Maver A, Pajusalu S, Õunap K, Puusepp S, Dobosz P, Sypniewski M, Burnyte B, Lace B.
Mroczek M, et al. Among authors: zdanovica a.
Hum Mutat. 2022 Oct;43(10):1347-1353. doi: 10.1002/humu.24421. Epub 2022 Jun 22.
Hum Mutat. 2022.
PMID: 35731190
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Altered Splicing of LAMP2 in a Multigenerational Family from Latvia Affected by Danon Disease.
Stavusis J, Micule I, Grinfelde I, Zdanovica A, Pudulis J, Valeina S, Sepetiene S, Lace B, Inashkina I.
Stavusis J, et al. Among authors: zdanovica a.
Medicina (Kaunas). 2024 Jan 5;60(1):99. doi: 10.3390/medicina60010099.
Medicina (Kaunas). 2024.
PMID: 38256360
Free PMC article.
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