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Page 1
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.
Amarasekera SSC, Hock DH, Lake NJ, Calvo SE, Grønborg SW, Krzesinski EI, Amor DJ, Fahey MC, Simons C, Wibrand F, Mootha VK, Lek M, Lunke S, Stark Z, Østergaard E, Christodoulou J, Thorburn DR, Stroud DA, Compton AG. Amarasekera SSC, et al. Among authors: gronborg sw. Hum Mol Genet. 2023 Jul 20;32(15):2441-2454. doi: 10.1093/hmg/ddad069. Hum Mol Genet. 2023. PMID: 37133451 Free PMC article.
Efficacy and safety of arimoclomol in Niemann-Pick disease type C: Results from a double-blind, randomised, placebo-controlled, multinational phase 2/3 trial of a novel treatment.
Mengel E, Patterson MC, Da Riol RM, Del Toro M, Deodato F, Gautschi M, Grunewald S, Grønborg S, Harmatz P, Héron B, Maier EM, Roubertie A, Santra S, Tylki-Szymanska A, Day S, Andreasen AK, Geist MA, Havnsøe Torp Petersen N, Ingemann L, Hansen T, Blaettler T, Kirkegaard T, Í Dali C. Mengel E, et al. J Inherit Metab Dis. 2021 Nov;44(6):1463-1480. doi: 10.1002/jimd.12428. Epub 2021 Sep 7. J Inherit Metab Dis. 2021. PMID: 34418116 Free PMC article. Clinical Trial.
Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi).
Schoenmakers DH, Beerepoot S, van den Berg S, Adang L, Bley A, Boelens JJ, Fumagalli F, Goettsch WG, Grønborg S, Groeschel S, van Hasselt PM, Hollak CEM, Lindemans C, Mochel F, Mol PGM, Sevin C, Zerem A, Schöls L, Wolf NI. Schoenmakers DH, et al. Orphanet J Rare Dis. 2022 Feb 14;17(1):48. doi: 10.1186/s13023-022-02189-w. Orphanet J Rare Dis. 2022. PMID: 35164810 Free PMC article.
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.
Kaiyrzhanov R, Mohammed SEM, Maroofian R, Husain RA, Catania A, Torraco A, Alahmad A, Dutra-Clarke M, Grønborg S, Sudarsanam A, Vogt J, Arrigoni F, Baptista J, Haider S, Feichtinger RG, Bernardi P, Zulian A, Gusic M, Efthymiou S, Bai R, Bibi F, Horga A, Martinez-Agosto JA, Lam A, Manole A, Rodriguez DP, Durigon R, Pyle A, Albash B, Dionisi-Vici C, Murphy D, Martinelli D, Bugiardini E, Allis K, Lamperti C, Reipert S, Risom L, Laugwitz L, Di Nottia M, McFarland R, Vilarinho L, Hanna M, Prokisch H, Mayr JA, Bertini ES, Ghezzi D, Østergaard E, Wortmann SB, Carrozzo R, Haack TB, Taylor RW, Spinazzola A, Nowikovsky K, Houlden H. Kaiyrzhanov R, et al. Am J Hum Genet. 2022 Sep 1;109(9):1692-1712. doi: 10.1016/j.ajhg.2022.07.007. Am J Hum Genet. 2022. PMID: 36055214 Free PMC article.
Identification of a new COQ4 spliceogenic variant causing severe primary coenzyme Q deficiency.
Alcázar-Fabra M, Østergaard E, Fernández-Ayala DJM, Desbats MA, Morbidoni V, Tomás-Gallado L, García-Corzo L, Blanquer-Roselló MDM, Bartlett AK, Sánchez-Cuesta A, Sena L, Cortés-Rodríguez A, Cascajo-Almenara MV, Pagliarini DJ, Trevisson E, Gronborg SW, Brea-Calvo G. Alcázar-Fabra M, et al. Among authors: gronborg sw. Mol Genet Metab Rep. 2024 Dec 14;42:101176. doi: 10.1016/j.ymgmr.2024.101176. eCollection 2025 Mar. Mol Genet Metab Rep. 2024. PMID: 39759098 Free PMC article.
[Exome sequencing for syndrome diagnostics].
Østergaard E, Risom L, Ek J, Grønborg S, Dunø M, Skovby F. Østergaard E, et al. Ugeskr Laeger. 2017 Apr 24;179(17):V10160762. Ugeskr Laeger. 2017. PMID: 28473029 Free article. Review. Danish.
Case report: 'AARS2 leukodystrophy'.
Axelsen TM, Vammen TL, Bak M, Pourhadi N, Stenør CM, Grønborg S. Axelsen TM, et al. Mol Genet Metab Rep. 2021 Jul 13;28:100782. doi: 10.1016/j.ymgmr.2021.100782. eCollection 2021 Sep. Mol Genet Metab Rep. 2021. PMID: 34285876 Free PMC article.
36 results