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Page 1
HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling.
Malcorps M, Amor-Barris S, Burnyte B, Vilimiene R, Armirola-Ricaurte C, Grigalioniene K, Ekshteyn A, Morkuniene A, Vaitkevicius A, De Vriendt E, Baets J, Scherer SS, Ambrozaityte L, Utkus A, Jordanova A, Peeters K. Malcorps M, et al. Among authors: grigalioniene k. Orphanet J Rare Dis. 2022 Oct 14;17(1):374. doi: 10.1186/s13023-022-02541-0. Orphanet J Rare Dis. 2022. PMID: 36242072 Free PMC article.
Kearns-Sayre syndrome case. Novel 5,9 kb mtDNA deletion.
Grigalionienė K, Burnytė B, Balkelienė D, Ambrozaitytė L, Utkus A. Grigalionienė K, et al. Mol Genet Genomic Med. 2023 Jan;11(1):e2059. doi: 10.1002/mgg3.2059. Epub 2022 Oct 1. Mol Genet Genomic Med. 2023. PMID: 36181358 Free PMC article.
Impact of Newborn Screening on Clinical Presentation of Congenital Adrenal Hyperplasia.
Navardauskaitė R, Banevičiūtė K, Songailienė J, Grigalionienė K, Čereškevičius D, Šukys M, Mockevicienė G, Smirnova M, Utkus A, Verkauskienė R. Navardauskaitė R, et al. Among authors: grigalioniene k. Medicina (Kaunas). 2021 Sep 29;57(10):1035. doi: 10.3390/medicina57101035. Medicina (Kaunas). 2021. PMID: 34684072 Free PMC article.
Complete mtDNA sequencing reveals mutations m.9185T>C and m.13513G>A in three patients with Leigh syndrome.
Pelnena D, Burnyte B, Jankevics E, Lace B, Dagyte E, Grigalioniene K, Utkus A, Krumina Z, Rozentale J, Adomaitiene I, Stavusis J, Pliss L, Inashkina I. Pelnena D, et al. Among authors: grigalioniene k. Mitochondrial DNA A DNA Mapp Seq Anal. 2018 Oct;29(7):1115-1120. doi: 10.1080/24701394.2017.1413365. Epub 2017 Dec 12. Mitochondrial DNA A DNA Mapp Seq Anal. 2018. PMID: 29228836