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FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation.
Mul K, Lemmers RJLF, Kriek M, van der Vliet PJ, van den Boogaard ML, Badrising UA, Graham JM Jr, Lin AE, Brand H, Moore SA, Johnson K, Evangelista T, Töpf A, Straub V, Kapetanovic García S, Sacconi S, Tawil R, Tapscott SJ, Voermans NC, van Engelen BGM, Horlings CGC, Shaw ND, van der Maarel SM. Mul K, et al. Among authors: evangelista t. Neurology. 2018 Aug 7;91(6):e562-e570. doi: 10.1212/WNL.0000000000005958. Epub 2018 Jul 6. Neurology. 2018. PMID: 29980640 Free PMC article.
SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain.
Lemmers RJLF, van der Stoep N, Vliet PJV, Moore SA, San Leon Granado D, Johnson K, Topf A, Straub V, Evangelista T, Mozaffar T, Kimonis V, Shaw ND, Selvatici R, Ferlini A, Voermans N, van Engelen B, Sacconi S, Tawil R, Lamers M, van der Maarel SM. Lemmers RJLF, et al. Among authors: evangelista t. J Med Genet. 2019 Oct;56(10):693-700. doi: 10.1136/jmedgenet-2019-106168. Epub 2019 Jun 26. J Med Genet. 2019. PMID: 31243061 Free PMC article.
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.
Harris E, Topf A, Barresi R, Hudson J, Powell H, Tellez J, Hicks D, Porter A, Bertoli M, Evangelista T, Marini-Betollo C, Magnússon Ó, Lek M, MacArthur D, Bushby K, Lochmüller H, Straub V. Harris E, et al. Among authors: evangelista t. Orphanet J Rare Dis. 2017 Sep 6;12(1):151. doi: 10.1186/s13023-017-0699-9. Orphanet J Rare Dis. 2017. PMID: 28877744 Free PMC article.
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains.
Harris E, Burki U, Marini-Bettolo C, Neri M, Scotton C, Hudson J, Bertoli M, Evangelista T, Vroling B, Polvikoski T, Roberts M, Töpf A, Bushby K, McArthur D, Lochmüller H, Ferlini A, Straub V, Barresi R. Harris E, et al. Among authors: evangelista t. Neuromuscul Disord. 2017 Sep;27(9):861-872. doi: 10.1016/j.nmd.2017.05.002. Epub 2017 May 4. Neuromuscul Disord. 2017. PMID: 28624464
Phenotypical variability and atypical presentations in a French cohort of Andersen-Tawil syndrome.
Villar-Quiles RN, Sternberg D, Tredez G, Beatriz Romero N, Evangelista T, Lafôret P, Cintas P, Sole G, Sacconi S, Bendahhou S, Franques J, Cances C, Noury JB, Delmont E, Blondy P, Perrin L, Hezode M, Fournier E, Fontaine B, Stojkovic T, Vicart S. Villar-Quiles RN, et al. Among authors: evangelista t. Eur J Neurol. 2022 Aug;29(8):2398-2411. doi: 10.1111/ene.15369. Epub 2022 May 4. Eur J Neurol. 2022. PMID: 35460302
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.
Kim HJ, Mohassel P, Donkervoort S, Guo L, O'Donovan K, Coughlin M, Lornage X, Foulds N, Hammans SR, Foley AR, Fare CM, Ford AF, Ogasawara M, Sato A, Iida A, Munot P, Ambegaonkar G, Phadke R, O'Donovan DG, Buchert R, Grimmel M, Töpf A, Zaharieva IT, Brady L, Hu Y, Lloyd TE, Klein A, Steinlin M, Kuster A, Mercier S, Marcorelles P, Péréon Y, Fleurence E, Manzur A, Ennis S, Upstill-Goddard R, Bello L, Bertolin C, Pegoraro E, Salviati L, French CE, Shatillo A, Raymond FL, Haack TB, Quijano-Roy S, Böhm J, Nelson I, Stojkovic T, Evangelista T, Straub V, Romero NB, Laporte J, Muntoni F, Nishino I, Tarnopolsky MA, Shorter J, Bönnemann CG, Taylor JP. Kim HJ, et al. Among authors: evangelista t. Nat Commun. 2022 Apr 28;13(1):2306. doi: 10.1038/s41467-022-30015-1. Nat Commun. 2022. PMID: 35484142 Free PMC article.
159 results