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Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin.
Hakonen AH, Heiskanen S, Juvonen V, Lappalainen I, Luoma PT, Rantamaki M, Goethem GV, Lofgren A, Hackman P, Paetau A, Kaakkola S, Majamaa K, Varilo T, Udd B, Kaariainen H, Bindoff LA, Suomalainen A. Hakonen AH, et al. Among authors: bindoff la. Am J Hum Genet. 2005 Sep;77(3):430-41. doi: 10.1086/444548. Epub 2005 Jul 27. Am J Hum Genet. 2005. PMID: 16080118 Free PMC article.
FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study.
Suomalainen A, Elo JM, Pietiläinen KH, Hakonen AH, Sevastianova K, Korpela M, Isohanni P, Marjavaara SK, Tyni T, Kiuru-Enari S, Pihko H, Darin N, Õunap K, Kluijtmans LA, Paetau A, Buzkova J, Bindoff LA, Annunen-Rasila J, Uusimaa J, Rissanen A, Yki-Järvinen H, Hirano M, Tulinius M, Smeitink J, Tyynismaa H. Suomalainen A, et al. Among authors: bindoff la. Lancet Neurol. 2011 Sep;10(9):806-18. doi: 10.1016/S1474-4422(11)70155-7. Epub 2011 Aug 3. Lancet Neurol. 2011. PMID: 21820356 Free PMC article.
Using urine to diagnose large-scale mtDNA deletions in adult patients.
Varhaug KN, Nido GS, de Coo I, Isohanni P, Suomalainen A, Tzoulis C, Knappskog P, Bindoff LA. Varhaug KN, et al. Among authors: bindoff la. Ann Clin Transl Neurol. 2020 Aug;7(8):1318-1326. doi: 10.1002/acn3.51119. Epub 2020 Jul 7. Ann Clin Transl Neurol. 2020. PMID: 32634300 Free PMC article.
In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration.
Hytönen MK, Sarviaho R, Jackson CB, Syrjä P, Jokinen T, Matiasek K, Rosati M, Dallabona C, Baruffini E, Quintero I, Arumilli M, Monteuuis G, Donner J, Anttila M, Suomalainen A, Bindoff LA, Lohi H. Hytönen MK, et al. Among authors: bindoff la. Hum Genet. 2021 Nov;140(11):1593-1609. doi: 10.1007/s00439-021-02279-y. Epub 2021 Apr 9. Hum Genet. 2021. PMID: 33835239 Free PMC article.
Mitochondrial disease in adults: recent advances and future promise.
Ng YS, Bindoff LA, Gorman GS, Klopstock T, Kornblum C, Mancuso M, McFarland R, Sue CM, Suomalainen A, Taylor RW, Thorburn DR, Turnbull DM. Ng YS, et al. Among authors: bindoff la. Lancet Neurol. 2021 Jul;20(7):573-584. doi: 10.1016/S1474-4422(21)00098-3. Lancet Neurol. 2021. PMID: 34146515 Review.
Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study.
Björkman K, Vissing J, Østergaard E, Bindoff LA, de Coo IFM, Engvall M, Hikmat O, Isohanni P, Kollberg G, Lindberg C, Majamaa K, Naess K, Uusimaa J, Tulinius M, Darin N. Björkman K, et al. Among authors: bindoff la. J Med Genet. 2023 Jan;60(1):65-73. doi: 10.1136/jmedgenet-2021-108006. Epub 2021 Dec 6. J Med Genet. 2023. PMID: 34872991 Free PMC article.
226 results