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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
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.
Wassenberg T, Molero-Luis M, Jeltsch K, Hoffmann GF, Assmann B, Blau N, Garcia-Cazorla A, Artuch R, Pons R, Pearson TS, Leuzzi V, Mastrangelo M, Pearl PL, Lee WT, Kurian MA, Heales S, Flint L, Verbeek M, Willemsen M, Opladen T. Wassenberg T, et al. Among authors: pons r. Orphanet J Rare Dis. 2017 Jan 18;12(1):12. doi: 10.1186/s13023-016-0522-z. Orphanet J Rare Dis. 2017. PMID: 28100251 Free PMC article. Review.
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.
280 results