Ricci E - Search Results

1

Familial childhood onset, slowly progressive myopathy plus cardiomyopathy expands the phenotype related to variants in the TTN gene.

Perna A, Bosco L, Fattori F, Torchia E, Modoni A, Papacci M, Petrucci A, Tasca G, Ricci E, Bertini ES, Silvestri G. Perna A, et al. Among authors: ricci e. Neuromuscul Disord. 2024 Apr;37:1-5. doi: 10.1016/j.nmd.2024.02.001. Epub 2024 Feb 8. Neuromuscul Disord. 2024. PMID: 38430701

2

New phenotype and pathology features in MYH7-related distal myopathy.

Tasca G, Ricci E, Penttilä S, Monforte M, Giglio V, Ottaviani P, Camastra G, Silvestri G, Udd B. Tasca G, et al. Among authors: ricci e. Neuromuscul Disord. 2012 Jul;22(7):640-7. doi: 10.1016/j.nmd.2012.03.003. Epub 2012 Apr 20. Neuromuscul Disord. 2012. PMID: 22521714

3

Myotonic dystrophy type 1 and de novo FSHD mutation double trouble: a clinical and muscle MRI study.

Masciullo M, Iannaccone E, Bianchi ML, Santoro M, Conte G, Modoni A, Monforte M, Tasca G, Laschena F, Ricci E, Silvestri G. Masciullo M, et al. Among authors: ricci e. Neuromuscul Disord. 2013 May;23(5):427-31. doi: 10.1016/j.nmd.2013.02.002. Epub 2013 Mar 1. Neuromuscul Disord. 2013. PMID: 23466272

4

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: ricci e. 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.

5

Concentric muscle involvement in POLG-related distal myopathy.

Tasca G, Monforte M, Nesti C, Santorelli FM, Silvestri G, Ricci E. Tasca G, et al. Among authors: ricci e. Neuromuscul Disord. 2017 May;27(5):500-501. doi: 10.1016/j.nmd.2017.03.001. Epub 2017 Mar 7. Neuromuscul Disord. 2017. PMID: 28336318 No abstract available.

6

Muscle hypertrophy in amyloid myopathy.

Tasca G, Modoni A, Nicoletti T, Monforte M, Cuccaro A, Ricci E. Tasca G, et al. Among authors: ricci e. Neuromuscul Disord. 2019 Feb;29(2):150-151. doi: 10.1016/j.nmd.2018.12.010. Epub 2018 Dec 21. Neuromuscul Disord. 2019. PMID: 30704860 No abstract available.

7

Upper body involvement in GNE myopathy assessed by muscle imaging.

Torchia E, Lucchini M, Bortolani S, Monforte M, Garibaldi M, Mirabella M, Tartaglione T, Ricci E, Tasca G. Torchia E, et al. Among authors: ricci e. Neuromuscul Disord. 2022 May;32(5):410-418. doi: 10.1016/j.nmd.2021.12.007. Epub 2022 Jan 12. Neuromuscul Disord. 2022. PMID: 35248449

8

An Italian case of hereditary myopathy with early respiratory failure (HMERF) not associated with the titin kinase domain R279W mutation.

Tasca G, Mirabella M, Broccolini A, Monforte M, Sabatelli M, Biscione GL, Piluso G, Gualandi F, Tonali PA, Udd B, Ricci E. Tasca G, et al. Among authors: ricci e. Neuromuscul Disord. 2010 Nov;20(11):730-4. doi: 10.1016/j.nmd.2010.07.269. Epub 2010 Aug 13. Neuromuscul Disord. 2010. PMID: 20708934

9

Severe 5,10-methylenetetrahydrofolate reductase deficiency: a rare, treatable cause of complicated hereditary spastic paraplegia.

Perna A, Masciullo M, Modoni A, Cellini E, Parrini E, Ricci E, Donati AM, Silvestri G. Perna A, et al. Among authors: ricci e. Eur J Neurol. 2018 Mar;25(3):602-605. doi: 10.1111/ene.13557. Epub 2018 Jan 30. Eur J Neurol. 2018. PMID: 29284203

10

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: ricci e. 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.

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