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Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.
Haack TB, Ignatius E, Calvo-Garrido J, Iuso A, Isohanni P, Maffezzini C, Lönnqvist T, Suomalainen A, Gorza M, Kremer LS, Graf E, Hartig M, Berutti R, Paucar M, Svenningsson P, Stranneheim H, Brandberg G, Wedell A, Kurian MA, Hayflick SA, Venco P, Tiranti V, Strom TM, Dichgans M, Horvath R, Holinski-Feder E, Freyer C, Meitinger T, Prokisch H, Senderek J, Wredenberg A, Carroll CJ, Klopstock T. Haack TB, et al. Among authors: stranneheim h. Am J Hum Genet. 2016 Sep 1;99(3):735-743. doi: 10.1016/j.ajhg.2016.06.026. Epub 2016 Aug 18. Am J Hum Genet. 2016. PMID: 27545679 Free PMC article.
Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26.
Kishita Y, Pajak A, Bolar NA, Marobbio CM, Maffezzini C, Miniero DV, Monné M, Kohda M, Stranneheim H, Murayama K, Naess K, Lesko N, Bruhn H, Mourier A, Wibom R, Nennesmo I, Jespers A, Govaert P, Ohtake A, Van Laer L, Loeys BL, Freyer C, Palmieri F, Wredenberg A, Okazaki Y, Wedell A. Kishita Y, et al. Among authors: stranneheim h. Am J Hum Genet. 2015 Nov 5;97(5):761-8. doi: 10.1016/j.ajhg.2015.09.013. Epub 2015 Oct 29. Am J Hum Genet. 2015. PMID: 26522469 Free PMC article.
SQSTM1/p62-Directed Metabolic Reprogramming Is Essential for Normal Neurodifferentiation.
Calvo-Garrido J, Maffezzini C, Schober FA, Clemente P, Uhlin E, Kele M, Stranneheim H, Lesko N, Bruhn H, Svenningsson P, Falk A, Wedell A, Freyer C, Wredenberg A. Calvo-Garrido J, et al. Among authors: stranneheim h. Stem Cell Reports. 2019 Apr 9;12(4):696-711. doi: 10.1016/j.stemcr.2019.01.023. Epub 2019 Feb 28. Stem Cell Reports. 2019. PMID: 30827875 Free PMC article.
Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid.
Freyer C, Stranneheim H, Naess K, Mourier A, Felser A, Maffezzini C, Lesko N, Bruhn H, Engvall M, Wibom R, Barbaro M, Hinze Y, Magnusson M, Andeer R, Zetterström RH, von Döbeln U, Wredenberg A, Wedell A. Freyer C, et al. Among authors: stranneheim h. J Med Genet. 2015 Nov;52(11):779-83. doi: 10.1136/jmedgenet-2015-102986. Epub 2015 Jun 17. J Med Genet. 2015. PMID: 26084283 Free PMC article.
Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy.
Bruhn H, Samuelsson K, Schober FA, Engvall M, Lesko N, Wibom R, Nennesmo I, Calvo-Garrido J, Press R, Stranneheim H, Freyer C, Wedell A, Wredenberg A. Bruhn H, et al. Among authors: stranneheim h. Neurol Genet. 2021 Mar 15;7(2):e566. doi: 10.1212/NXG.0000000000000566. eCollection 2021 Apr. Neurol Genet. 2021. PMID: 33732874 Free PMC article.
Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model.
Tegelberg S, Tomašić N, Kallijärvi J, Purhonen J, Elmér E, Lindberg E, Nord DG, Soller M, Lesko N, Wedell A, Bruhn H, Freyer C, Stranneheim H, Wibom R, Nennesmo I, Wredenberg A, Eklund EA, Fellman V. Tegelberg S, et al. Among authors: stranneheim h. Orphanet J Rare Dis. 2017 Apr 20;12(1):73. doi: 10.1186/s13023-017-0624-2. Orphanet J Rare Dis. 2017. PMID: 28427446 Free PMC article.
32 results