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TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy.
Spitali P, Zaharieva I, Bohringer S, Hiller M, Chaouch A, Roos A, Scotton C, Claustres M, Bello L, McDonald CM, Hoffman EP; CINRG Investigators; Koeks Z, Eka Suchiman H, Cirak S, Scoto M, Reza M, 't Hoen PAC, Niks EH, Tuffery-Giraud S, Lochmüller H, Ferlini A, Muntoni F, Aartsma-Rus A. Spitali P, et al. Among authors: scotton c. Eur J Hum Genet. 2020 Jun;28(6):815-825. doi: 10.1038/s41431-019-0563-6. Epub 2020 Jan 2. Eur J Hum Genet. 2020. PMID: 31896777 Free PMC article.
Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants.
van den Bergen JC, Hiller M, Böhringer S, Vijfhuizen L, Ginjaar HB, Chaouch A, Bushby K, Straub V, Scoto M, Cirak S, Humbertclaude V, Claustres M, Scotton C, Passarelli C, Lochmüller H, Muntoni F, Tuffery-Giraud S, Ferlini A, Aartsma-Rus AM, Verschuuren JJ, 't Hoen PA, Spitali P. van den Bergen JC, et al. Among authors: scotton c. J Neurol Neurosurg Psychiatry. 2015 Oct;86(10):1060-5. doi: 10.1136/jnnp-2014-308409. Epub 2014 Dec 4. J Neurol Neurosurg Psychiatry. 2015. PMID: 25476005 Free PMC article.
Duchenne Muscular Dystrophy: From Diagnosis to Therapy.
Falzarano MS, Scotton C, Passarelli C, Ferlini A. Falzarano MS, et al. Among authors: scotton c. Molecules. 2015 Oct 7;20(10):18168-84. doi: 10.3390/molecules201018168. Molecules. 2015. PMID: 26457695 Free PMC article. Review.
Biomarkers in rare diseases.
Ferlini A, Scotton C, Novelli G. Ferlini A, et al. Among authors: scotton c. Public Health Genomics. 2013;16(6):313-21. doi: 10.1159/000355938. Epub 2014 Feb 3. Public Health Genomics. 2013. PMID: 24503592 Review.
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype.
Brioschi S, Gualandi F, Scotton C, Armaroli A, Bovolenta M, Falzarano MS, Sabatelli P, Selvatici R, D'Amico A, Pane M, Ricci G, Siciliano G, Tedeschi S, Pini A, Vercelli L, De Grandis D, Mercuri E, Bertini E, Merlini L, Mongini T, Ferlini A. Brioschi S, et al. Among authors: scotton c. BMC Med Genet. 2012 Aug 16;13:73. doi: 10.1186/1471-2350-13-73. BMC Med Genet. 2012. PMID: 22894145 Free PMC article.
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia.
Nasca A, Scotton C, Zaharieva I, Neri M, Selvatici R, Magnusson OT, Gal A, Weaver D, Rossi R, Armaroli A, Pane M, Phadke R, Sarkozy A, Muntoni F, Hughes I, Cecconi A, Hajnóczky G, Donati A, Mercuri E, Zeviani M, Ferlini A, Ghezzi D. Nasca A, et al. Among authors: scotton c. Hum Mutat. 2017 Aug;38(8):970-977. doi: 10.1002/humu.23262. Epub 2017 Jun 6. Hum Mutat. 2017. PMID: 28544275 Free PMC article.
Biomarkers in rare neuromuscular diseases.
Scotton C, Passarelli C, Neri M, Ferlini A. Scotton C, et al. Exp Cell Res. 2014 Jul 1;325(1):44-9. doi: 10.1016/j.yexcr.2013.12.020. Epub 2013 Dec 31. Exp Cell Res. 2014. PMID: 24389168 Review.
85 results