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Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission.
Chaouch A, Porcelli V, Cox D, Edvardson S, Scarcia P, De Grassi A, Pierri CL, Cossins J, Laval SH, Griffin H, Müller JS, Evangelista T, Töpf A, Abicht A, Huebner A, von der Hagen M, Bushby K, Straub V, Horvath R, Elpeleg O, Palace J, Senderek J, Beeson D, Palmieri L, Lochmüller H. Chaouch A, et al. Among authors: elpeleg o. J Neuromuscul Dis. 2014;1(1):75-90. doi: 10.3233/JND-140021. J Neuromuscul Dis. 2014. PMID: 26870663 Free PMC article.
Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter.
Edvardson S, Porcelli V, Jalas C, Soiferman D, Kellner Y, Shaag A, Korman SH, Pierri CL, Scarcia P, Fraenkel ND, Segel R, Schechter A, Frumkin A, Pines O, Saada A, Palmieri L, Elpeleg O. Edvardson S, et al. Among authors: elpeleg o. J Med Genet. 2013 Apr;50(4):240-5. doi: 10.1136/jmedgenet-2012-101485. Epub 2013 Feb 7. J Med Genet. 2013. PMID: 23393310
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.
Boczonadi V, Müller JS, Pyle A, Munkley J, Dor T, Quartararo J, Ferrero I, Karcagi V, Giunta M, Polvikoski T, Birchall D, Princzinger A, Cinnamon Y, Lützkendorf S, Piko H, Reza M, Florez L, Santibanez-Koref M, Griffin H, Schuelke M, Elpeleg O, Kalaydjieva L, Lochmüller H, Elliott DJ, Chinnery PF, Edvardson S, Horvath R. Boczonadi V, et al. Among authors: elpeleg o. Nat Commun. 2014 Jul 3;5:4287. doi: 10.1038/ncomms5287. Nat Commun. 2014. PMID: 24989451 Free PMC article.
PNC2 (SLC25A36) Deficiency Associated With the Hyperinsulinism/Hyperammonemia Syndrome.
Shahroor MA, Lasorsa FM, Porcelli V, Dweikat I, Di Noia MA, Gur M, Agostino G, Shaag A, Rinaldi T, Gasparre G, Guerra F, Castegna A, Todisco S, Abu-Libdeh B, Elpeleg O, Palmieri L. Shahroor MA, et al. Among authors: elpeleg o. J Clin Endocrinol Metab. 2022 Apr 19;107(5):1346-1356. doi: 10.1210/clinem/dgab932. J Clin Endocrinol Metab. 2022. PMID: 34971397
Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive.
Edvardson S, Nicolae CM, Noh GJ, Burton JE, Punzi G, Shaag A, Bischetsrieder J, De Grassi A, Pierri CL, Elpeleg O, Moldovan GL. Edvardson S, et al. Among authors: elpeleg o. Am J Hum Genet. 2019 Jan 3;104(1):179-185. doi: 10.1016/j.ajhg.2018.11.018. Epub 2018 Dec 27. Am J Hum Genet. 2019. PMID: 30595371 Free PMC article.
311 results