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ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Mattison KA, Tossing G, Mulroe F, Simmons C, Butler KM, Schreiber A, Alsadah A, Neilson DE, Naess K, Wedell A, Wredenberg A, Sorlin A, McCann E, Burghel GJ, Menendez B, Hoganson GE, Botto LD, Filloux FM, Aledo-Serrano Á, Gil-Nagel A, Tatton-Brown K, Verbeek NE, van der Zwaag B, Aleck KA, Fazenbaker AC, Balciuniene J, Dubbs HA, Marsh ED, Garber K, Ek J, Duno M, Hoei-Hansen CE, Deardorff MA, Raca G, Quindipan C, van Hirtum-Das M, Breckpot J, Hammer TB, Møller RS, Whitney A, Douglas AGL, Kharbanda M, Brunetti-Pierri N, Morleo M, Nigro V, May HJ, Tao JX, Argilli E, Sherr EH, Dobyns WB; Genomics England Research Consortium; Baines RA, Warwicker J, Parker JA, Banka S, Campeau PM, Escayg A. Mattison KA, et al. Brain. 2023 Apr 19;146(4):1357-1372. doi: 10.1093/brain/awac330. Brain. 2023. PMID: 36074901 Free PMC article.
Acetaminophen treatment in children and adults with spinal muscular atrophy: a lower tolerance and higher risk of hepatotoxicity.
Naume MM, Zhao Q, Haslund-Krog SS, Krag T, Winter BCM, Revsbech KL, Vissing J, Holst H, Møller MH, Hornsyld TM, Dunø M, Hoei-Hansen CE, Born AP, Bo Jensen P, Cathrine Ørngreen M. Naume MM, et al. Among authors: hoei hansen ce. Neuromuscul Disord. 2024 Jan;34:9-18. doi: 10.1016/j.nmd.2023.11.005. Epub 2023 Nov 15. Neuromuscul Disord. 2024. PMID: 38052667 Free article.
Cerebral Palsy - Early Diagnosis and Intervention Trial: protocol for the prospective multicentre CP-EDIT study with focus on diagnosis, prognostic factors, and intervention.
Hoei-Hansen CE, Weber L, Johansen M, Fabricius R, Hansen JK, Viuff AF, Rønde G, Hahn GH, Østergaard E, Duno M, Larsen VA, Madsen CG, Røhder K, Elvrum AG, Laugesen B, Ganz M, Madsen KS, Willerslev-Olsen M, Debes NM, Christensen J, Christensen R, Rackauskaite G. Hoei-Hansen CE, et al. BMC Pediatr. 2023 Oct 30;23(1):544. doi: 10.1186/s12887-023-04312-7. BMC Pediatr. 2023. PMID: 37899466 Free PMC article.
Effectiveness and safety of everolimus treatment in patients with tuberous sclerosis complex in real-world clinical practice.
Cockerell I, Christensen J, Hoei-Hansen CE, Holst L, Grenaa Frederiksen M, Issa-Epe AI, Nedregaard B, Solhoff R, Heimdal K, Johannessen Landmark C, Lund C, Nærland T. Cockerell I, et al. Among authors: hoei hansen ce. Orphanet J Rare Dis. 2023 Dec 2;18(1):377. doi: 10.1186/s13023-023-02982-1. Orphanet J Rare Dis. 2023. PMID: 38042867 Free PMC article. Clinical Trial.
Severe Congenital Heart Defects and Cerebral Palsy.
Garne E, Goldsmith S, Barisic I, Braz P, Dakovic I, Gibson C, Hansen M, Hoei-Hansen CE, Hollung SJ, Klungsøyr K, Smithers-Sheedy H, Virella D, Badawi N, Watson L, McIntyre S. Garne E, et al. Among authors: hoei hansen ce. J Pediatr. 2023 Nov;262:113617. doi: 10.1016/j.jpeds.2023.113617. Epub 2023 Jul 18. J Pediatr. 2023. PMID: 37473991 Free article.
74 results