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Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.
Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin SQ, Jordanova A, Kremensky I, Christodoulou K, Middleton LT, Sivakumar K, Ionasescu V, Funalot B, Vance JM, Goldfarb LG, Fischbeck KH, Green ED. Antonellis A, et al. Among authors: funalot b. Am J Hum Genet. 2003 May;72(5):1293-9. doi: 10.1086/375039. Epub 2003 Apr 10. Am J Hum Genet. 2003. PMID: 12690580 Free PMC article.
Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.
Sivakumar K, Kyriakides T, Puls I, Nicholson GA, Funalot B, Antonellis A, Sambuughin N, Christodoulou K, Beggs JL, Zamba-Papanicolaou E, Ionasescu V, Dalakas MC, Green ED, Fischbeck KH, Goldfarb LG. Sivakumar K, et al. Among authors: funalot b. Brain. 2005 Oct;128(Pt 10):2304-14. doi: 10.1093/brain/awh590. Epub 2005 Jul 13. Brain. 2005. PMID: 16014653
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: funalot b. 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.
Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations.
Calvo J, Funalot B, Ouvrier RA, Lazaro L, Toutain A, De Mas P, Bouche P, Gilbert-Dussardier B, Arne-Bes MC, Carrière JP, Journel H, Minot-Myhie MC, Guillou C, Ghorab K, Magy L, Sturtz F, Vallat JM, Magdelaine C. Calvo J, et al. Among authors: funalot b. Arch Neurol. 2009 Dec;66(12):1511-6. doi: 10.1001/archneurol.2009.284. Arch Neurol. 2009. PMID: 20008656
[Charcot-Marie-Tooth (CMT) disease: an update].
Vallat JM, Funalot B. Vallat JM, et al. Among authors: funalot b. Med Sci (Paris). 2010 Oct;26(10):842-7. doi: 10.1051/medsci/20102610842. Med Sci (Paris). 2010. PMID: 20929675 Free article. Review. French.
The various Charcot-Marie-Tooth diseases.
Vallat JM, Mathis S, Funalot B. Vallat JM, et al. Among authors: funalot b. Curr Opin Neurol. 2013 Oct;26(5):473-80. doi: 10.1097/WCO.0b013e328364c04b. Curr Opin Neurol. 2013. PMID: 23945280 Review.
115 results