Kangas SM - Search Results

1

Analysis of human brain tissue derived from DBS surgery.

Kangas SM, Teppo J, Lahtinen MJ, Suoranta A, Ghimire B, Mattila P, Uusimaa J, Varjosalo M, Katisko J, Hinttala R. Kangas SM, et al. Transl Neurodegener. 2022 Apr 13;11(1):22. doi: 10.1186/s40035-022-00297-y. Transl Neurodegener. 2022. PMID: 35418104 Free PMC article.

2

Novel variants and phenotypes widen the phenotypic spectrum of GABRG2-related disorders.

Komulainen-Ebrahim J, Schreiber JM, Kangas SM, Pylkäs K, Suo-Palosaari M, Rahikkala E, Liinamaa J, Immonen EV, Hassinen I, Myllynen P, Rantala H, Hinttala R, Uusimaa J. Komulainen-Ebrahim J, et al. Among authors: kangas sm. Seizure. 2019 Jul;69:99-104. doi: 10.1016/j.seizure.2019.03.010. Epub 2019 Mar 19. Seizure. 2019. PMID: 31004928 Free article.

3

Homozygous TAF1C variants are associated with a novel childhood-onset neurological phenotype.

Knuutinen O, Pyle A, Suo-Palosaari M, Duff J, Froukh T, Lehesjoki AE, Kangas SM, Cassidy J, Maraqa L, Keski-Filppula R, Kokkonen H, Uusimaa J, Horvath R, Vieira P. Knuutinen O, et al. Among authors: kangas sm. Clin Genet. 2020 Nov;98(5):493-498. doi: 10.1111/cge.13827. Epub 2020 Aug 25. Clin Genet. 2020. PMID: 32779182

4

Variant in NHLRC2 leads to increased hnRNP C2 in developing neurons and the hippocampus of a mouse model of FINCA disease.

Hiltunen AE, Kangas SM, Ohlmeier S, Pietilä I, Hiltunen J, Tanila H, McKerlie C, Govindan S, Tuominen H, Kaarteenaho R, Hallman M, Uusimaa J, Hinttala R. Hiltunen AE, et al. Among authors: kangas sm. Mol Med. 2020 Dec 9;26(1):123. doi: 10.1186/s10020-020-00245-4. Mol Med. 2020. PMID: 33297935 Free PMC article.

5

Epidemiological, clinical, and genetic characteristics of paediatric genetic white matter disorders in Northern Finland.

Knuutinen OA, Oikarainen JH, Suo-Palosaari MH, Kangas SM, Rahikkala EJ, Pokka TM, Moilanen JS, Hinttala RML, Vieira PM, Uusimaa JM. Knuutinen OA, et al. Among authors: kangas sm. Dev Med Child Neurol. 2021 Sep;63(9):1066-1074. doi: 10.1111/dmcn.14884. Epub 2021 May 5. Dev Med Child Neurol. 2021. PMID: 33948933 Free article.

6

Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage.

Zárybnický T, Heikkinen A, Kangas SM, Karikoski M, Martínez-Nieto GA, Salo MH, Uusimaa J, Vuolteenaho R, Hinttala R, Sipilä P, Kuure S. Zárybnický T, et al. Among authors: kangas sm. Cells. 2021 Nov 13;10(11):3158. doi: 10.3390/cells10113158. Cells. 2021. PMID: 34831381 Free PMC article. Review.

7

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: kangas sm. Clin Genet. 2023 Dec;104(6):686-693. doi: 10.1111/cge.14416. Epub 2023 Aug 13. Clin Genet. 2023. PMID: 37574199

8

The N-terminal domain of the myelin enzyme 2',3'-cyclic nucleotide 3'-phosphodiesterase: direct molecular interaction with the calcium sensor calmodulin.

Myllykoski M, Itoh K, Kangas SM, Heape AM, Kang SU, Lubec G, Kursula I, Kursula P. Myllykoski M, et al. Among authors: kangas sm. J Neurochem. 2012 Nov;123(4):515-24. doi: 10.1111/jnc.12000. Epub 2012 Sep 28. J Neurochem. 2012. PMID: 22928743 Free article.

9

An approach to comprehensive genome and proteome expression analyses in Schwann cells and neurons during peripheral nerve myelin formation.

Kangas SM, Ohlmeier S, Sormunen R, Jouhilahti EM, Peltonen S, Peltonen J, Heape AM. Kangas SM, et al. J Neurochem. 2016 Sep;138(6):830-44. doi: 10.1111/jnc.13722. Epub 2016 Aug 4. J Neurochem. 2016. PMID: 27364987 Free article.

10

Keskitalo PL, Kangas SM, Sard S, Pokka T, Glumoff V, Kulmala P, Vähäsalo P. Keskitalo PL, et al. Among authors: kangas sm. Pediatr Rheumatol Online J. 2022 Jun 16;20(1):42. doi: 10.1186/s12969-022-00701-x. Pediatr Rheumatol Online J. 2022. PMID: 35710418 Free PMC article.

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