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Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.
Bonora E, Chakrabarty S, Kellaris G, Tsutsumi M, Bianco F, Bergamini C, Ullah F, Isidori F, Liparulo I, Diquigiovanni C, Masin L, Rizzardi N, Cratere MG, Boschetti E, Papa V, Maresca A, Cenacchi G, Casadio R, Martelli P, Matera I, Ceccherini I, Fato R, Raiola G, Arrigo S, Signa S, Sementa AR, Severino M, Striano P, Fiorillo C, Goto T, Uchino S, Oyazato Y, Nakamura H, Mishra SK, Yeh YS, Kato T, Nozu K, Tanboon J, Morioka I, Nishino I, Toda T, Goto YI, Ohtake A, Kosaki K, Yamaguchi Y, Nonaka I, Iijima K, Mimaki M, Kurahashi H, Raams A, MacInnes A, Alders M, Engelen M, Linthorst G, de Koning T, den Dunnen W, Dijkstra G, van Spaendonck K, van Gent DC, Aronica EM, Picco P, Carelli V, Seri M, Katsanis N, Duijkers FAM, Taniguchi-Ikeda M, De Giorgio R. Bonora E, et al. Among authors: aronica em. Brain. 2021 Jun 22;144(5):1451-1466. doi: 10.1093/brain/awab056. Brain. 2021. PMID: 33855352 Free article.
Extension of the clinical spectrum of Danon disease.
van der Kooi AJ, van Langen IM, Aronica E, van Doorn PA, Wokke JH, Brusse E, Langerhorst CT, Bergin P, Dekker LR, dit Deprez RH, de Visser M. van der Kooi AJ, et al. Neurology. 2008 Apr 15;70(16):1358-9. doi: 10.1212/01.wnl.0000309219.61785.b3. Neurology. 2008. PMID: 18413590 No abstract available.
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.
Perenthaler E, Nikoncuk A, Yousefi S, Berdowski WM, Alsagob M, Capo I, van der Linde HC, van den Berg P, Jacobs EH, Putar D, Ghazvini M, Aronica E, van IJcken WFJ, de Valk WG, Medici-van den Herik E, van Slegtenhorst M, Brick L, Kozenko M, Kohler JN, Bernstein JA, Monaghan KG, Begtrup A, Torene R, Al Futaisi A, Al Murshedi F, Mani R, Al Azri F, Kamsteeg EJ, Mojarrad M, Eslahi A, Khazaei Z, Darmiyan FM, Doosti M, Karimiani EG, Vandrovcova J, Zafar F, Rana N, Kandaswamy KK, Hertecant J, Bauer P, AlMuhaizea MA, Salih MA, Aldosary M, Almass R, Al-Quait L, Qubbaj W, Coskun S, Alahmadi KO, Hamad MHA, Alwadaee S, Awartani K, Dababo AM, Almohanna F, Colak D, Dehghani M, Mehrjardi MYV, Gunel M, Ercan-Sencicek AG, Passi GR, Cheema HA, Efthymiou S, Houlden H, Bertoli-Avella AM, Brooks AS, Retterer K, Maroofian R, Kaya N, van Ham TJ, Barakat TS. Perenthaler E, et al. Acta Neuropathol. 2020 Mar;139(3):415-442. doi: 10.1007/s00401-019-02109-6. Epub 2019 Dec 9. Acta Neuropathol. 2020. PMID: 31820119 Free PMC article.
Neuropathology of New-Onset Refractory Status Epilepticus (NORSE).
Hanin A, Cespedes J, Huttner A, Strelnikov D, Gopaul M, DiStasio M, Vezzani A, Hirsch LJ, Aronica E. Hanin A, et al. J Neurol. 2023 Aug;270(8):3688-3702. doi: 10.1007/s00415-023-11726-x. Epub 2023 Apr 20. J Neurol. 2023. PMID: 37079033 Review.
Brain tumour diagnostics using a DNA methylation-based classifier as a diagnostic support tool.
Priesterbach-Ackley LP, Boldt HB, Petersen JK, Bervoets N, Scheie D, Ulhøi BP, Gardberg M, Brännström T, Torp SH, Aronica E, Küsters B, den Dunnen WFA, de Vos FYFL, Wesseling P, de Leng WWJ, Kristensen BW. Priesterbach-Ackley LP, et al. Neuropathol Appl Neurobiol. 2020 Aug;46(5):478-492. doi: 10.1111/nan.12610. Epub 2020 Apr 7. Neuropathol Appl Neurobiol. 2020. PMID: 32072658 Free PMC article.
158 results