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Journal of Inherited Metabolic Disease|November 25, 2010
Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screeningJolanta Sykut-Cegielska, Wanda Gradowska, Dorota Piekutowska-Abramczuk, et al.
Nature Communications|April 18, 2024
High-throughput quantum photonic devices emitting indistinguishable photons in the telecom C-bandPaweł Holewa, Daniel A Vajner, Emilia Zięba-Ostój, et al.
American Journal of Human Genetics|June 24, 2008
Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophyDaniella Magen, Costa Georgopoulos, Peter Bross, et al.
Molecular Metabolism|August 15, 2024
HSP60 chaperone deficiency disrupts the mitochondrial matrix proteome and dysregulates cholesterol synthesisCagla Cömert, Kasper Kjær-Sørensen, Jakob Hansen, et al.
Human Genetics|December 1, 2005
Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skippingPia Pinholt Madsen, Maria Kibaek, Xavier Roca, et al.
Translational Psychiatry|August 8, 2022
The psychiatric risk gene BRD1 modulates mitochondrial bioenergetics by transcriptional regulationVeerle Paternoster, Cagla Cömert, Louise Sand Kirk, et al.
Orphanet Journal of Rare Diseases|October 7, 2010
A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case reportAnne-Frédérique Dessein, Monique Fontaine, Brage S Andresen, et al.
Circulation. Cardiovascular Genetics|April 8, 2014
Truncating plakophilin-2 mutations in arrhythmogenic cardiomyopathy are associated with protein haploinsufficiency in both myocardium and epidermisTorsten B Rasmussen, Peter H Nissen, Johan Palmfeldt, et al.
Human Mutation|February 6, 2013
Mutated desmoglein-2 proteins are incorporated into desmosomes and exhibit dominant-negative effects in arrhythmogenic right ventricular cardiomyopathyTorsten B Rasmussen, Johan Palmfeldt, Peter H Nissen, et al.
European Journal of Heart Failure|June 27, 2018
The clinical outcome of LMNA missense mutations can be associated with the amount of mutated protein in the nuclear envelopeRasha A Al-Saaidi, Torsten B Rasmussen, Rune I D Birkler, et al.
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