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FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance.
Almannai M, Wang J, Dai H, El-Hattab AW, Faqeih EA, Saleh MA, Al Asmari A, Alwadei AH, Aljadhai YI, AlHashem A, Tabarki B, Lines MA, Grange DK, Benini R, Alsaman AS, Mahmoud A, Katsonis P, Lichtarge O, Wong LC. Almannai M, et al. Among authors: benini r. Mol Genet Metab. 2018 Nov;125(3):281-291. doi: 10.1016/j.ymgme.2018.07.014. Epub 2018 Jul 29. Mol Genet Metab. 2018. PMID: 30177229
Abnormal myelination in ring chromosome 18 syndrome.
Benini R, Saint-Martin C, Shevell MI, Bernard G. Benini R, et al. J Child Neurol. 2012 Aug;27(8):1042-7. doi: 10.1177/0883073811430268. Epub 2012 Jan 30. J Child Neurol. 2012. PMID: 22290857
Normal imaging in patients with cerebral palsy: what does it tell us?
Benini R, Dagenais L, Shevell MI; Registre de la Paralysie Cérébrale au Québec (Quebec Cerebral Palsy Registry) Consortium. Benini R, et al. J Pediatr. 2013 Feb;162(2):369-74.e1. doi: 10.1016/j.jpeds.2012.07.044. Epub 2012 Aug 31. J Pediatr. 2013. PMID: 22944004
Landscape of childhood epilepsies - A multi-ethnic population-based study.
Benini R, Asir N, Yasin A, Mohamedzain AM, Hadid F, Vasudeva DM, Saeed A, Zamel K, Kayyali H, Elestwani S. Benini R, et al. Epilepsy Res. 2022 Jul;183:106936. doi: 10.1016/j.eplepsyres.2022.106936. Epub 2022 Apr 28. Epilepsy Res. 2022. PMID: 35526330 Free article.
53 results