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A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.
Jonckheere AI, Hogeveen M, Nijtmans LG, van den Brand MA, Janssen AJ, Diepstra JH, van den Brandt FC, van den Heuvel LP, Hol FA, Hofste TG, Kapusta L, Dillmann U, Shamdeen MG, Smeitink JA, Rodenburg RJ. Jonckheere AI, et al. Among authors: dillmann u. J Med Genet. 2008 Mar;45(3):129-33. doi: 10.1136/jmg.2007.052084. Epub 2007 Oct 22. J Med Genet. 2008. PMID: 17954552
A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.
Jonckheere AI, Hogeveen M, Nijtmans L, van den Brand M, Janssen A, Diepstra H, van den Brandt F, van den Heuvel B, Hol F, Hofste T, Kapusta L, Dillmann U, Shamdeen M, Smeitink J, Smeitink J, Rodenburg R. Jonckheere AI, et al. Among authors: dillmann u. BMJ Case Rep. 2009;2009:bcr07.2008.0504. doi: 10.1136/bcr.07.2008.0504. Epub 2009 Jan 23. BMJ Case Rep. 2009. PMID: 21686774 Free PMC article.
Off-Label Use of Ataluren in Four Non-ambulatory Patients With Nonsense Mutation Duchenne Muscular Dystrophy: Effects on Cardiac and Pulmonary Function and Muscle Strength.
Ebrahimi-Fakhari D, Dillmann U, Flotats-Bastardas M, Poryo M, Abdul-Khaliq H, Shamdeen MG, Mischo B, Zemlin M, Meyer S. Ebrahimi-Fakhari D, et al. Among authors: dillmann u. Front Pediatr. 2018 Oct 23;6:316. doi: 10.3389/fped.2018.00316. eCollection 2018. Front Pediatr. 2018. PMID: 30406066 Free PMC article.
Corrigendum: Off-Label Use of Ataluren in Four Non-ambulatory Patients With Duchenne Muscular Dystrophy: Effects on Cardiac and Pulmonary Function and Muscle Strength.
Ebrahimi-Fakhari D, Dillmann U, Flotats-Bastardas M, Poryo M, Abdul-Khaliq H, Shamdeen MG, Mischo B, Zemlin M, Meyer S. Ebrahimi-Fakhari D, et al. Among authors: dillmann u. Front Pediatr. 2019 Jul 25;7:284. doi: 10.3389/fped.2019.00284. eCollection 2019. Front Pediatr. 2019. PMID: 31404150 Free PMC article.
77 results