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Page 1
ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia.
Marelli C, Hamel C, Quiles M, Carlander B, Larrieu L, Delettre C, Sarzi E, Chretien D, Rustin P, Koenig M, Guissart C. Marelli C, et al. Among authors: sarzi e. Neurol Genet. 2018 Mar 20;4(2):e225. doi: 10.1212/NXG.0000000000000225. eCollection 2018 Apr. Neurol Genet. 2018. PMID: 29564393 Free PMC article. No abstract available.
Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy.
Piro-Mégy C, Sarzi E, Tarrés-Solé A, Péquignot M, Hensen F, Quilès M, Manes G, Chakraborty A, Sénéchal A, Bocquet B, Cazevieille C, Roubertie A, Müller A, Charif M, Goudenège D, Lenaers G, Wilhelm H, Kellner U, Weisschuh N, Wissinger B, Zanlonghi X, Hamel C, Spelbrink JN, Sola M, Delettre C. Piro-Mégy C, et al. Among authors: sarzi e. J Clin Invest. 2020 Jan 2;130(1):143-156. doi: 10.1172/JCI128513. J Clin Invest. 2020. PMID: 31550237 Free PMC article.
Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations!
Roubertie A, Charif M, Meyer P, Manes G, Meunier I, Taieb G, Junta Morales R, Guichet A, Delettre C, Sarzi E, Leboucq N, Rivier F, Lenaers G. Roubertie A, et al. Among authors: sarzi e. Ann Clin Transl Neurol. 2019 Aug;6(8):1572-1577. doi: 10.1002/acn3.50860. Epub 2019 Jul 27. Ann Clin Transl Neurol. 2019. PMID: 31402626 Free PMC article.
OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution.
Elachouri G, Vidoni S, Zanna C, Pattyn A, Boukhaddaoui H, Gaget K, Yu-Wai-Man P, Gasparre G, Sarzi E, Delettre C, Olichon A, Loiseau D, Reynier P, Chinnery PF, Rotig A, Carelli V, Hamel CP, Rugolo M, Lenaers G. Elachouri G, et al. Among authors: sarzi e. Genome Res. 2011 Jan;21(1):12-20. doi: 10.1101/gr.108696.110. Epub 2010 Oct 25. Genome Res. 2011. PMID: 20974897 Free PMC article.
28 results