Fattori F - Search Results

1

POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking.

Schindler RF, Scotton C, Zhang J, Passarelli C, Ortiz-Bonnin B, Simrick S, Schwerte T, Poon KL, Fang M, Rinné S, Froese A, Nikolaev VO, Grunert C, Müller T, Tasca G, Sarathchandra P, Drago F, Dallapiccola B, Rapezzi C, Arbustini E, Di Raimo FR, Neri M, Selvatici R, Gualandi F, Fattori F, Pietrangelo A, Li W, Jiang H, Xu X, Bertini E, Decher N, Wang J, Brand T, Ferlini A. Schindler RF, et al. Among authors: fattori f. J Clin Invest. 2016 Jan;126(1):239-53. doi: 10.1172/JCI79562. Epub 2015 Dec 7. J Clin Invest. 2016. PMID: 26642364 Free PMC article.

2

A new de novo missense mutation in MYH2 expands clinical and genetic findings in hereditary myosin myopathies.

D'Amico A, Fattori F, Bellacchio E, Catteruccia M, Servidei S, Bertini E. D'Amico A, et al. Among authors: fattori f. Neuromuscul Disord. 2013 May;23(5):437-40. doi: 10.1016/j.nmd.2013.02.011. Epub 2013 Mar 13. Neuromuscul Disord. 2013. PMID: 23489661 Free PMC article.

3

Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1.

Tasca G, D'Amico A, Monforte M, Nadaj-Pakleza A, Vialle M, Fattori F, Vissing J, Ricci E, Bertini E. Tasca G, et al. Among authors: fattori f. Neuromuscul Disord. 2015 Nov;25(11):898-903. doi: 10.1016/j.nmd.2015.07.008. Epub 2015 Jul 17. Neuromuscul Disord. 2015. PMID: 26255678 Free PMC article.

4

Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders.

D'Amico A, Fattori F, Tasca G, Petrini S, Gualandi F, Bruselles A, D'Oria V, Verardo M, Carrozzo R, Niceta M, Udd B, Ferlini A, Tartaglia M, Bertini E. D'Amico A, et al. Among authors: fattori f. Eur J Paediatr Neurol. 2017 Nov;21(6):873-883. doi: 10.1016/j.ejpn.2017.07.009. Epub 2017 Jul 22. Eur J Paediatr Neurol. 2017. PMID: 28760337

5

Expanding the histopathological spectrum of CFL2-related myopathies.

Fattori F, Fiorillo C, Rodolico C, Tasca G, Verardo M, Bellacchio E, Pizzi S, Ciolfi A, Fagiolari G, Lupica A, Broda P, Pedemonte M, Moggio M, Bruno C, Tartaglia M, Bertini E, D'Amico A. Fattori F, et al. Clin Genet. 2018 Jun;93(6):1234-1239. doi: 10.1111/cge.13240. Epub 2018 Mar 25. Clin Genet. 2018. PMID: 29457652

6

Peculiar muscle imaging findings in a patient with alphaB-crystallinopathy and axial myopathy.

Bortolani S, Fattori F, Monforte M, Ricci E, Tasca G. Bortolani S, et al. Among authors: fattori f. J Neurol Sci. 2020 Sep 15;416:116999. doi: 10.1016/j.jns.2020.116999. Epub 2020 Jun 24. J Neurol Sci. 2020. PMID: 32619840 No abstract available.

7

Somatic mosaicism in TPM2-related myopathy with nemaline rods and cap structures.

Tasca G, Fattori F, Ricci E, Monforte M, Rizzo V, Mercuri E, Bertini E, Silvestri G. Tasca G, et al. Among authors: fattori f. Acta Neuropathol. 2013 Jan;125(1):169-71. doi: 10.1007/s00401-012-1049-6. Epub 2012 Sep 27. Acta Neuropathol. 2013. PMID: 23015096 No abstract available.

8

A new phenotypic variant in cleidocranial dysplasia (CCD) associated with mutation c.391C>T of the RUNX2 gene.

Callea M, Fattori F, Yavuz I, Bertini E. Callea M, et al. Among authors: fattori f. BMJ Case Rep. 2012 Dec 5;2012:bcr1220115422. doi: 10.1136/bcr-12-2011-5422. BMJ Case Rep. 2012. PMID: 23220435 Free PMC article.

9

Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations.

Hedberg C, Niceta M, Fattori F, Lindvall B, Ciolfi A, D'Amico A, Tasca G, Petrini S, Tulinius M, Tartaglia M, Oldfors A, Bertini E. Hedberg C, et al. Among authors: fattori f. J Neurol. 2014 May;261(5):870-6. doi: 10.1007/s00415-014-7287-x. Epub 2014 Feb 26. J Neurol. 2014. PMID: 24570283

10

Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods.

Tasca G, Fattori F, Monforte M, Hedberg-Oldfors C, Sabatelli M, Udd B, Boldrini R, Bertini E, Ricci E, Oldfors A. Tasca G, et al. Among authors: fattori f. J Neurol. 2016 Oct;263(10):2133-5. doi: 10.1007/s00415-016-8268-z. Epub 2016 Aug 20. J Neurol. 2016. PMID: 27544502 No abstract available.

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