Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

16 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
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: maffezzini c. 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.
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: maffezzini c. 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.
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: maffezzini c. 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.
Defects of mitochondrial RNA turnover lead to the accumulation of double-stranded RNA in vivo.
Pajak A, Laine I, Clemente P, El-Fissi N, Schober FA, Maffezzini C, Calvo-Garrido J, Wibom R, Filograna R, Dhir A, Wedell A, Freyer C, Wredenberg A. Pajak A, et al. Among authors: maffezzini c. PLoS Genet. 2019 Jul 31;15(7):e1008240. doi: 10.1371/journal.pgen.1008240. eCollection 2019 Jul. PLoS Genet. 2019. PMID: 31365523 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: maffezzini c. 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.
C6orf203 is an RNA-binding protein involved in mitochondrial protein synthesis.
Gopalakrishna S, Pearce SF, Dinan AM, Schober FA, Cipullo M, Spåhr H, Khawaja A, Maffezzini C, Freyer C, Wredenberg A, Atanassov I, Firth AE, Rorbach J. Gopalakrishna S, et al. Among authors: maffezzini c. Nucleic Acids Res. 2019 Sep 26;47(17):9386-9399. doi: 10.1093/nar/gkz684. Nucleic Acids Res. 2019. PMID: 31396629 Free PMC article.
16 results