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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2003 1
2004 3
2005 2
2006 2
2007 2
2008 6
2009 6
2010 3
2011 5
2012 4
2013 6
2014 5
2015 12
2016 14
2017 9
2018 13
2019 8
2020 9
2021 7
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Search Results

104 results
Results by year
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Page 1
Congenital myopathies: clinical phenotypes and new diagnostic tools.
Cassandrini D, Trovato R, Rubegni A, Lenzi S, Fiorillo C, Baldacci J, Minetti C, Astrea G, Bruno C, Santorelli FM; Italian Network on Congenital Myopathies. Cassandrini D, et al. Ital J Pediatr. 2017 Nov 15;43(1):101. doi: 10.1186/s13052-017-0419-z. Ital J Pediatr. 2017. PMID: 29141652 Free PMC article. Review.
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study.
Neri M, Rossi R, Trabanelli C, Mauro A, Selvatici R, Falzarano MS, Spedicato N, Margutti A, Rimessi P, Fortunato F, Fabris M, Gualandi F, Comi G, Tedeschi S, Seia M, Fiorillo C, Traverso M, Bruno C, Giardina E, Piemontese MR, Merla G, Cau M, Marica M, Scuderi C, Borgione E, Tessa A, Astrea G, Santorelli FM, Merlini L, Mora M, Bernasconi P, Gibertini S, Sansone V, Mongini T, Berardinelli A, Pini A, Liguori R, Filosto M, Messina S, Vita G, Toscano A, Vita G, Pane M, Servidei S, Pegoraro E, Bello L, Travaglini L, Bertini E, D'Amico A, Ergoli M, Politano L, Torella A, Nigro V, Mercuri E, Ferlini A. Neri M, et al. Among authors: mora m. Front Genet. 2020 Mar 3;11:131. doi: 10.3389/fgene.2020.00131. eCollection 2020. Front Genet. 2020. PMID: 32194622 Free PMC article.
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.
Savarese M, Maggi L, Vihola A, Jonson PH, Tasca G, Ruggiero L, Bello L, Magri F, Giugliano T, Torella A, Evilä A, Di Fruscio G, Vanakker O, Gibertini S, Vercelli L, Ruggieri A, Antozzi C, Luque H, Janssens S, Pasanisi MB, Fiorillo C, Raimondi M, Ergoli M, Politano L, Bruno C, Rubegni A, Pane M, Santorelli FM, Minetti C, Angelini C, De Bleecker J, Moggio M, Mongini T, Comi GP, Santoro L, Mercuri E, Pegoraro E, Mora M, Hackman P, Udd B, Nigro V. Savarese M, et al. Among authors: mora m. JAMA Neurol. 2018 May 1;75(5):557-565. doi: 10.1001/jamaneurol.2017.4899. JAMA Neurol. 2018. PMID: 29435569 Free PMC article.
Need for a standardized antibiotic prophylaxis in keratoplasty.
Lorente MG, González IM, de Lossada CR, Martín FZ, García-Montesinos J, Romano V, de Mora MRC. Lorente MG, et al. Among authors: de mora mrc. Eye (Lond). 2020 Nov 24. doi: 10.1038/s41433-020-01311-1. Online ahead of print. Eye (Lond). 2020. PMID: 33235348 No abstract available.
Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease.
Ruggieri A, Naumenko S, Smith MA, Iannibelli E, Blasevich F, Bragato C, Gibertini S, Barton K, Vorgerd M, Marcus K, Wang P, Maggi L, Mantegazza R, Dowling JJ, Kley RA, Mora M, Minassian BA. Ruggieri A, et al. Among authors: mora m. Acta Neuropathol. 2020 Aug;140(2):231-235. doi: 10.1007/s00401-020-02164-4. Epub 2020 May 25. Acta Neuropathol. 2020. PMID: 32451610 Free PMC article. No abstract available.
Glycogen storage in a zebrafish Pompe disease model is reduced by 3-BrPA treatment.
Bragato C, Carra S, Blasevich F, Salerno F, Brix A, Bassi A, Beltrame M, Cotelli F, Maggi L, Mantegazza R, Mora M. Bragato C, et al. Among authors: mora m. Biochim Biophys Acta Mol Basis Dis. 2020 May 1;1866(5):165662. doi: 10.1016/j.bbadis.2020.165662. Epub 2020 Jan 7. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 31917327 Free article.
Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies.
Savarese M, Johari M, Johnson K, Arumilli M, Torella A, Töpf A, Rubegni A, Kuhn M, Giugliano T, Gläser D, Fattori F, Thompson R, Penttilä S, Lehtinen S, Gibertini S, Ruggieri A, Mora M, Maver A, Peterlin B, Mankodi A, Lochmüller H, Santorelli FM, Schoser B, Fajkusová L, Straub V, Nigro V, Hackman P, Udd B. Savarese M, et al. Among authors: mora m. J Neuromuscul Dis. 2020;7(2):153-166. doi: 10.3233/JND-190423. J Neuromuscul Dis. 2020. PMID: 32039858
Zc3h10 is a novel mitochondrial regulator.
Audano M, Pedretti S, Cermenati G, Brioschi E, Diaferia GR, Ghisletti S, Cuomo A, Bonaldi T, Salerno F, Mora M, Grigore L, Garlaschelli K, Baragetti A, Bonacina F, Catapano AL, Norata GD, Crestani M, Caruso D, Saez E, De Fabiani E, Mitro N. Audano M, et al. Among authors: mora m. EMBO Rep. 2018 Apr;19(4):e45531. doi: 10.15252/embr.201745531. Epub 2018 Mar 5. EMBO Rep. 2018. PMID: 29507079 Free PMC article.
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