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Page 1
Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant.
Hautakangas MR, Widgren P, Korpelainen P, Kangas SM, Komulainen T, Vieira P, Rahikkala E, Pylkäs K, Tuominen H, Kokkonen H, Miinalainen I, Nadaf J, Majewski J, Hinttala R, Uusimaa J. Hautakangas MR, et al. Among authors: kokkonen h. Clin Genet. 2023 Dec;104(6):686-693. doi: 10.1111/cge.14416. Epub 2023 Aug 13. Clin Genet. 2023. PMID: 37574199
Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy.
Diggle CP, Sukoff Rizzo SJ, Popiolek M, Hinttala R, Schülke JP, Kurian MA, Carr IM, Markham AF, Bonthron DT, Watson C, Sharif SM, Reinhart V, James LC, Vanase-Frawley MA, Charych E, Allen M, Harms J, Schmidt CJ, Ng J, Pysden K, Strick C, Vieira P, Mankinen K, Kokkonen H, Kallioinen M, Sormunen R, Rinne JO, Johansson J, Alakurtti K, Huilaja L, Hurskainen T, Tasanen K, Anttila E, Marques TR, Howes O, Politis M, Fahiminiya S, Nguyen KQ, Majewski J, Uusimaa J, Sheridan E, Brandon NJ. Diggle CP, et al. Among authors: kokkonen h. Am J Hum Genet. 2016 Apr 7;98(4):735-43. doi: 10.1016/j.ajhg.2016.03.015. Am J Hum Genet. 2016. PMID: 27058446 Free PMC article.
Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms.
Tesi B, Davidsson J, Voss M, Rahikkala E, Holmes TD, Chiang SCC, Komulainen-Ebrahim J, Gorcenco S, Rundberg Nilsson A, Ripperger T, Kokkonen H, Bryder D, Fioretos T, Henter JI, Möttönen M, Niinimäki R, Nilsson L, Pronk CJ, Puschmann A, Qian H, Uusimaa J, Moilanen J, Tedgård U, Cammenga J, Bryceson YT. Tesi B, et al. Among authors: kokkonen h. Blood. 2017 Apr 20;129(16):2266-2279. doi: 10.1182/blood-2016-10-743302. Epub 2017 Feb 15. Blood. 2017. PMID: 28202457 Free PMC article.
NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease.
Uusimaa J, Kaarteenaho R, Paakkola T, Tuominen H, Karjalainen MK, Nadaf J, Varilo T, Uusi-Mäkelä M, Suo-Palosaari M, Pietilä I, Hiltunen AE, Ruddock L, Alanen H, Biterova E, Miinalainen I, Salminen A, Soininen R, Manninen A, Sormunen R, Kaakinen M, Vuolteenaho R, Herva R, Vieira P, Dunder T, Kokkonen H, Moilanen JS, Rantala H, Nogee LM, Majewski J, Rämet M, Hallman M, Hinttala R. Uusimaa J, et al. Among authors: kokkonen h. Acta Neuropathol. 2018 May;135(5):727-742. doi: 10.1007/s00401-018-1817-z. Epub 2018 Feb 8. Acta Neuropathol. 2018. PMID: 29423877
Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome).
Rahikkala E, Myllykoski M, Hinttala R, Vieira P, Nayebzadeh N, Weiss S, Plomp AS, Bittner RE, Kurki MI, Kuismin O, Lewis AM, Väisänen ML, Kokkonen H, Westermann J, Bernert G, Tuominen H, Palotie A, Aaltonen L, Yang Y, Potocki L, Moilanen J, van Koningsbruggen S, Wang X, Schmidt WM, Koivunen P, Uusimaa J. Rahikkala E, et al. Among authors: kokkonen h. Genet Med. 2019 Oct;21(10):2355-2363. doi: 10.1038/s41436-019-0503-4. Epub 2019 Apr 3. Genet Med. 2019. PMID: 30940925 Free PMC article.
Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction.
Kaustio M, Nayebzadeh N, Hinttala R, Tapiainen T, Åström P, Mamia K, Pernaa N, Lehtonen J, Glumoff V, Rahikkala E, Honkila M, Olsén P, Hassinen A, Polso M, Al Sukaiti N, Al Shekaili J, Al Kindi M, Al Hashmi N, Almusa H, Bulanova D, Haapaniemi E, Chen P, Suo-Palosaari M, Vieira P, Tuominen H, Kokkonen H, Al Macki N, Al Habsi H, Löppönen T, Rantala H, Pietiäinen V, Zhang SY, Renko M, Hautala T, Al Farsi T, Uusimaa J, Saarela J. Kaustio M, et al. Among authors: kokkonen h. J Allergy Clin Immunol. 2021 Aug;148(2):599-611. doi: 10.1016/j.jaci.2020.12.656. Epub 2021 Mar 1. J Allergy Clin Immunol. 2021. PMID: 33662367 Free article. Clinical Trial.
70 results