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Page 1
Genetic Basis of Severe Childhood-Onset Cardiomyopathies.
Vasilescu C, Ojala TH, Brilhante V, Ojanen S, Hinterding HM, Palin E, Alastalo TP, Koskenvuo J, Hiippala A, Jokinen E, Jahnukainen T, Lohi J, Pihkala J, Tyni TA, Carroll CJ, Suomalainen A. Vasilescu C, et al. Among authors: brilhante v. J Am Coll Cardiol. 2018 Nov 6;72(19):2324-2338. doi: 10.1016/j.jacc.2018.08.2171. J Am Coll Cardiol. 2018. PMID: 30384889 Free article.
Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy.
Carroll CJ, Isohanni P, Pöyhönen R, Euro L, Richter U, Brilhante V, Götz A, Lahtinen T, Paetau A, Pihko H, Battersby BJ, Tyynismaa H, Suomalainen A. Carroll CJ, et al. Among authors: brilhante v. J Med Genet. 2013 Mar;50(3):151-9. doi: 10.1136/jmedgenet-2012-101375. Epub 2013 Jan 12. J Med Genet. 2013. PMID: 23315540
Next-generation sequencing for mitochondrial disorders.
Carroll CJ, Brilhante V, Suomalainen A. Carroll CJ, et al. Among authors: brilhante v. Br J Pharmacol. 2014 Apr;171(8):1837-53. doi: 10.1111/bph.12469. Br J Pharmacol. 2014. PMID: 24138576 Free PMC article. Review.
Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy.
Sainio MT, Välipakka S, Rinaldi B, Lapatto H, Paetau A, Ojanen S, Brilhante V, Jokela M, Huovinen S, Auranen M, Palmio J, Friant S, Ylikallio E, Udd B, Tyynismaa H. Sainio MT, et al. Among authors: brilhante v. J Neurol. 2019 Feb;266(2):353-360. doi: 10.1007/s00415-018-9137-8. Epub 2018 Dec 4. J Neurol. 2019. PMID: 30515627 Free PMC article.
Niacin Cures Systemic NAD+ Deficiency and Improves Muscle Performance in Adult-Onset Mitochondrial Myopathy.
Pirinen E, Auranen M, Khan NA, Brilhante V, Urho N, Pessia A, Hakkarainen A, Kuula J, Heinonen U, Schmidt MS, Haimilahti K, Piirilä P, Lundbom N, Taskinen MR, Brenner C, Velagapudi V, Pietiläinen KH, Suomalainen A. Pirinen E, et al. Among authors: brilhante v. Cell Metab. 2020 Jun 2;31(6):1078-1090.e5. doi: 10.1016/j.cmet.2020.04.008. Epub 2020 May 7. Cell Metab. 2020. PMID: 32386566 Free article.
Genetic background of ataxia in children younger than 5 years in Finland.
Ignatius E, Isohanni P, Pohjanpelto M, Lahermo P, Ojanen S, Brilhante V, Palin E, Suomalainen A, Lönnqvist T, Carroll CJ. Ignatius E, et al. Among authors: brilhante v. Neurol Genet. 2020 Jun 5;6(4):e444. doi: 10.1212/NXG.0000000000000444. eCollection 2020 Aug. Neurol Genet. 2020. PMID: 32637629 Free PMC article.
Defects in mtDNA replication challenge nuclear genome stability through nucleotide depletion and provide a unifying mechanism for mouse progerias.
Hämäläinen RH, Landoni JC, Ahlqvist KJ, Goffart S, Ryytty S, Rahman MO, Brilhante V, Icay K, Hautaniemi S, Wang L, Laiho M, Suomalainen A. Hämäläinen RH, et al. Among authors: brilhante v. Nat Metab. 2019 Oct;1(10):958-965. doi: 10.1038/s42255-019-0120-1. Epub 2019 Oct 7. Nat Metab. 2019. PMID: 32694840
18 results