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Mitochondrial myopathy simulating spinal muscular atrophy.
Pons R, Andreetta F, Wang CH, Vu TH, Bonilla E, DiMauro S, De Vivo DC. Pons R, et al. Pediatr Neurol. 1996 Sep;15(2):153-8. doi: 10.1016/0887-8994(96)00118-x. Pediatr Neurol. 1996. PMID: 8888051 Free article.
Mitochondrial Disease.
Pons R, De Vivo DC. Pons R, et al. Curr Treat Options Neurol. 2001 May;3(3):271-288. doi: 10.1007/s11940-001-0008-7. Curr Treat Options Neurol. 2001. PMID: 11282042
Mitochondrial DNA abnormalities and autistic spectrum disorders.
Pons R, Andreu AL, Checcarelli N, Vilà MR, Engelstad K, Sue CM, Shungu D, Haggerty R, de Vivo DC, DiMauro S. Pons R, et al. J Pediatr. 2004 Jan;144(1):81-5. doi: 10.1016/j.jpeds.2003.10.023. J Pediatr. 2004. PMID: 14722523
Paroxysmal eye-head movements in Glut1 deficiency syndrome.
Pearson TS, Pons R, Engelstad K, Kane SA, Goldberg ME, De Vivo DC. Pearson TS, et al. Among authors: pons r. Neurology. 2017 Apr 25;88(17):1666-1673. doi: 10.1212/WNL.0000000000003867. Epub 2017 Mar 24. Neurology. 2017. PMID: 28341645 Free PMC article.
Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group.
Klepper J, Akman C, Armeno M, Auvin S, Cervenka M, Cross HJ, De Giorgis V, Della Marina A, Engelstad K, Heussinger N, Kossoff EH, Leen WG, Leiendecker B, Monani UR, Oguni H, Neal E, Pascual JM, Pearson TS, Pons R, Scheffer IE, Veggiotti P, Willemsen M, Zuberi SM, De Vivo DC. Klepper J, et al. Among authors: pons r. Epilepsia Open. 2020 Aug 13;5(3):354-365. doi: 10.1002/epi4.12414. eCollection 2020 Sep. Epilepsia Open. 2020. PMID: 32913944 Free PMC article.
289 results