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Duplication/triplication mosaicism of EBF3 and expansion of the EBF3 neurodevelopmental disorder phenotype.
Eur J Paediatr Neurol. 2022 Mar;37:1-7. doi: 10.1016/j.ejpn.2021.12.012. Epub 2021 Dec 26.
Eur J Paediatr Neurol. 2022.
PMID: 34999443
Free article.
Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and poor growth.
Isohanni P, Carroll CJ, Jackson CB, Pohjanpelto M, Lönnqvist T, Suomalainen A.
Isohanni P, et al. Among authors: pohjanpelto m.
Neurogenetics. 2018 Jan;19(1):49-53. doi: 10.1007/s10048-018-0537-9. Epub 2018 Jan 19.
Neurogenetics. 2018.
PMID: 29350304
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Reply to 'Letter to Editor by Finsterer J and Zarrouk-Mahjoub S: Phenotypic manifestations of the m.8969G>A variant'.
Isohanni P, Carroll CJ, Jackson CB, Pohjanpelto M, Lönnqvist T, Suomalainen A.
Isohanni P, et al. Among authors: pohjanpelto m.
Neurogenetics. 2018 May;19(2):133-134. doi: 10.1007/s10048-018-0542-z. Epub 2018 Feb 26.
Neurogenetics. 2018.
PMID: 29480378
No abstract available.
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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: pohjanpelto m.
Neurol Genet. 2020 Jun 5;6(4):e444. doi: 10.1212/NXG.0000000000000444. eCollection 2020 Aug.
Neurol Genet. 2020.
PMID: 32637629
Free PMC article.
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Defective mitochondrial RNA processing due to PNPT1 variants causes Leigh syndrome.
Matilainen S, Carroll CJ, Richter U, Euro L, Pohjanpelto M, Paetau A, Isohanni P, Suomalainen A.
Matilainen S, et al. Among authors: pohjanpelto m.
Hum Mol Genet. 2017 Sep 1;26(17):3352-3361. doi: 10.1093/hmg/ddx221.
Hum Mol Genet. 2017.
PMID: 28645153
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