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Page 1
Increased prime edit rates in KCNQ2 and SCN1A via single nicking all-in-one plasmids.
Dirkx N, Weuring WJ, De Vriendt E, Smal N, van de Vondervoort J, van 't Slot R, Koetsier M, Zonnekein N, De Pooter T, Weckhuysen S, Koeleman BPC. Dirkx N, et al. Among authors: de vriendt e. BMC Biol. 2023 Jul 13;21(1):156. doi: 10.1186/s12915-023-01646-7. BMC Biol. 2023. PMID: 37443005 Free PMC article.
Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders.
Armirola-Ricaurte C, Zonnekein N, Koutsis G, Amor-Barris S, Pelayo-Negro AL, Atkinson D, Efthymiou S, Turchetti V, Dinopoulos A, Garcia A, Karakaya M, Moris G, Polat AI, Yiş U, Espinos C, Van de Vondel L, De Vriendt E, Karadima G, Wirth B, Hanna M, Houlden H, Berciano J, Jordanova A. Armirola-Ricaurte C, et al. Among authors: de vriendt e. Genet Med. 2024 Jun;26(6):101117. doi: 10.1016/j.gim.2024.101117. Epub 2024 Mar 6. Genet Med. 2024. PMID: 38459834 Free PMC article.
Identification and Characterization of Novel Founder Mutations in NDRG1: Refining the Genetic Landscape of Charcot-Marie-Tooth Disease Type 4D in Bulgaria.
Atkinson D, Chamova T, Candayan A, Kastreva K, Asenov O, Litvinenko I, Estrada-Cuzcano A, De Vriendt E, Kukushev G, Tournev I, Jordanova A. Atkinson D, et al. Among authors: de vriendt e. Int J Mol Sci. 2024 Aug 21;25(16):9047. doi: 10.3390/ijms25169047. Int J Mol Sci. 2024. PMID: 39201732 Free PMC article.
Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy.
Armirola-Ricaurte C, Morant L, Adant I, Hamed SA, Pipis M, Efthymiou S, Amor-Barris S, Atkinson D, Van de Vondel L, Tomic A, de Vriendt E, Zuchner S, Ghesquiere B, Hanna M, Houlden H, Lunn MP, Reilly MM, Rasic VM, Jordanova A. Armirola-Ricaurte C, et al. Among authors: de vriendt e. medRxiv [Preprint]. 2024 Jul 4:2024.07.03.24309787. doi: 10.1101/2024.07.03.24309787. medRxiv. 2024. PMID: 39006432 Free PMC article. Preprint.
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: de vriendt e. 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.
Phenotypic and Genetic Heterogeneity of Adult Patients with Hereditary Spastic Paraplegia from Serbia.
Perić S, Marković V, Candayan A, De Vriendt E, Momčilović N, Savić A, Dragašević-Mišković N, Svetel M, Stević Z, Božović I, Mesaroš Š, Drulović J, Basta I, Petrović I, Tamaš O, Mijajlović M, Novaković I, Sokić D, Jordanova A. Perić S, et al. Among authors: de vriendt e. Cells. 2022 Sep 8;11(18):2804. doi: 10.3390/cells11182804. Cells. 2022. PMID: 36139378 Free PMC article.
HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report.
de Aguiar Coelho Silva Madeiro B, Peeters K, Santos de Lima EL, Amor-Barris S, De Vriendt E, Jordanova A, Cartaxo Muniz MT, da Cunha Correia C. de Aguiar Coelho Silva Madeiro B, et al. Among authors: de vriendt e. Mol Genet Genomic Med. 2021 Oct;9(10):e1783. doi: 10.1002/mgg3.1783. Epub 2021 Sep 25. Mol Genet Genomic Med. 2021. PMID: 34562060 Free PMC article.
HINT1 neuropathy in Norway: clinical, genetic and functional profiling.
Amor-Barris S, Høyer H, Brauteset LV, De Vriendt E, Strand L, Jordanova A, Braathen GJ, Peeters K. Amor-Barris S, et al. Among authors: de vriendt e. Orphanet J Rare Dis. 2021 Mar 4;16(1):116. doi: 10.1186/s13023-021-01746-z. Orphanet J Rare Dis. 2021. PMID: 33663550 Free PMC article.
55 results