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Page 1
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.
Brea-Calvo G, Haack TB, Karall D, Ohtake A, Invernizzi F, Carrozzo R, Kremer L, Dusi S, Fauth C, Scholl-Bürgi S, Graf E, Ahting U, Resta N, Laforgia N, Verrigni D, Okazaki Y, Kohda M, Martinelli D, Freisinger P, Strom TM, Meitinger T, Lamperti C, Lacson A, Navas P, Mayr JA, Bertini E, Murayama K, Zeviani M, Prokisch H, Ghezzi D. Brea-Calvo G, et al. Among authors: martinelli d. Am J Hum Genet. 2015 Feb 5;96(2):309-17. doi: 10.1016/j.ajhg.2014.12.023. Am J Hum Genet. 2015. PMID: 25658047 Free PMC article.
Novel large-range mitochondrial DNA deletions and fatal multisystemic disorder with prominent hepatopathy.
Bianchi M, Rizza T, Verrigni D, Martinelli D, Tozzi G, Torraco A, Piemonte F, Dionisi-Vici C, Nobili V, Francalanci P, Boldrini R, Callea F, Santorelli FM, Bertini E, Carrozzo R. Bianchi M, et al. Among authors: martinelli d. Biochem Biophys Res Commun. 2011 Nov 18;415(2):300-4. doi: 10.1016/j.bbrc.2011.10.049. Epub 2011 Oct 18. Biochem Biophys Res Commun. 2011. PMID: 22027147 Free PMC article.
Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine.
Martinelli D, Häberle J, Rubio V, Giunta C, Hausser I, Carrozzo R, Gougeard N, Marco-Marín C, Goffredo BM, Meschini MC, Bevivino E, Boenzi S, Colafati GS, Brancati F, Baumgartner MR, Dionisi-Vici C. Martinelli D, et al. J Inherit Metab Dis. 2012 Sep;35(5):761-76. doi: 10.1007/s10545-011-9411-8. Epub 2011 Dec 15. J Inherit Metab Dis. 2012. PMID: 22170564
Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.
Steenweg ME, Ghezzi D, Haack T, Abbink TE, Martinelli D, van Berkel CG, Bley A, Diogo L, Grillo E, Te Water Naudé J, Strom TM, Bertini E, Prokisch H, van der Knaap MS, Zeviani M. Steenweg ME, et al. Among authors: martinelli d. Brain. 2012 May;135(Pt 5):1387-94. doi: 10.1093/brain/aws070. Epub 2012 Apr 4. Brain. 2012. PMID: 22492562 Free article.
EPI-743 reverses the progression of the pediatric mitochondrial disease--genetically defined Leigh Syndrome.
Martinelli D, Catteruccia M, Piemonte F, Pastore A, Tozzi G, Dionisi-Vici C, Pontrelli G, Corsetti T, Livadiotti S, Kheifets V, Hinman A, Shrader WD, Thoolen M, Klein MB, Bertini E, Miller G. Martinelli D, et al. Mol Genet Metab. 2012 Nov;107(3):383-8. doi: 10.1016/j.ymgme.2012.09.007. Epub 2012 Sep 10. Mol Genet Metab. 2012. PMID: 23010433 Clinical Trial.
Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases.
Mancuso M, Angelini C, Bertini E, Carelli V, Comi GP, Minetti C, Moggio M, Mongini T, Servidei S, Tonin P, Toscano A, Uziel G, Zeviani M, Siciliano G; Nation-wide Italian Collaborative Network of Mitochondrial Diseases. Mancuso M, et al. Neuromuscul Disord. 2012 Dec;22 Suppl 3(3-3):S226-9. doi: 10.1016/j.nmd.2012.10.012. Neuromuscul Disord. 2012. PMID: 23182644 Free PMC article. Review.
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation.
Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Minetti C, Moggio M, Mongini T, Servidei S, Tonin P, Toscano A, Uziel G, Bruno C, Caldarazzo Ienco E, Filosto M, Lamperti C, Martinelli D, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Santorelli FM, Sauchelli D, Scarpelli M, Sciacco M, Spinazzi M, Valentino ML, Vercelli L, Zeviani M, Siciliano G. Mancuso M, et al. Among authors: martinelli d. Neurology. 2013 May 28;80(22):2049-54. doi: 10.1212/WNL.0b013e318294b44c. Epub 2013 May 1. Neurology. 2013. PMID: 23635963
428 results