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Reply: The expanding neurological phenotype of DNM1L-related disorders.
Gerber S, Charif M, Chevrollier A, Chaumette T, Angebault C, Kane S, Paris A, Alban J, Quiles M, Delettre C, Bonneau D, Procaccio V, Amati-Bonneau P, Reynier P, Leruez S, Calmon R, Boddaert N, Funalot B, Rio M, Bouccara D, Meunier I, Sesaki H, Kaplan J, Hamel CP, Rozet JM, Lenaers G. Gerber S, et al. Among authors: calmon r. Brain. 2018 Apr 1;141(4):e29. doi: 10.1093/brain/awy027. Brain. 2018. PMID: 29529130 No abstract available.
Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission.
Gerber S, Charif M, Chevrollier A, Chaumette T, Angebault C, Kane MS, Paris A, Alban J, Quiles M, Delettre C, Bonneau D, Procaccio V, Amati-Bonneau P, Reynier P, Leruez S, Calmon R, Boddaert N, Funalot B, Rio M, Bouccara D, Meunier I, Sesaki H, Kaplan J, Hamel CP, Rozet JM, Lenaers G. Gerber S, et al. Among authors: calmon r. Brain. 2017 Oct 1;140(10):2586-2596. doi: 10.1093/brain/awx219. Brain. 2017. PMID: 28969390
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.
Gerber S, Alzayady KJ, Burglen L, Brémond-Gignac D, Marchesin V, Roche O, Rio M, Funalot B, Calmon R, Durr A, Gil-da-Silva-Lopes VL, Ribeiro Bittar MF, Orssaud C, Héron B, Ayoub E, Berquin P, Bahi-Buisson N, Bole C, Masson C, Munnich A, Simons M, Delous M, Dollfus H, Boddaert N, Lyonnet S, Kaplan J, Calvas P, Yule DI, Rozet JM, Fares Taie L. Gerber S, et al. Among authors: calmon r. Am J Hum Genet. 2016 May 5;98(5):971-980. doi: 10.1016/j.ajhg.2016.03.004. Epub 2016 Apr 21. Am J Hum Genet. 2016. PMID: 27108797 Free PMC article.
[Brain imaging in seizures].
Grévent D, Calmon R, Brunelle F, Boddaert N. Grévent D, et al. Among authors: calmon r. Rev Prat. 2012 Dec;62(10):1391-4. Rev Prat. 2012. PMID: 23424919 Review. French.
Tuning Eye-Gaze Perception by Transitory STS Inhibition.
Saitovitch A, Popa T, Lemaitre H, Rechtman E, Lamy JC, Grévent D, Calmon R, Meunier S, Brunelle F, Samson Y, Boddaert N, Zilbovicius M. Saitovitch A, et al. Among authors: calmon r. Cereb Cortex. 2016 Jun;26(6):2823-31. doi: 10.1093/cercor/bhw045. Epub 2016 Mar 5. Cereb Cortex. 2016. PMID: 26946130 Free PMC article.
Neural and behavioral signature of human social perception.
Saitovitch A, Lemaitre H, Rechtman E, Vinçon-Leite A, Calmon R, Grévent D, Dangouloff-Ros V, Brunelle F, Boddaert N, Zilbovicius M. Saitovitch A, et al. Among authors: calmon r. Sci Rep. 2019 Jun 25;9(1):9252. doi: 10.1038/s41598-019-44977-8. Sci Rep. 2019. PMID: 31239453 Free PMC article.
36 results