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1,303 results

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Page 1
Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients.
Giugliano T, Savarese M, Garofalo A, Picillo E, Fiorillo C, D'Amico A, Maggi L, Ruggiero L, Vercelli L, Magri F, Fattori F, Torella A, Ergoli M, Rubegni A, Fanin M, Musumeci O, Bleecker J, Peverelli L, Moggio M, Mercuri E, Toscano A, Mora M, Santoro L, Mongini T, Bertini E, Bruno C, Minetti C, Comi GP, Santorelli FM, Angelini C, Politano L, Piluso G, Nigro V. Giugliano T, et al. Among authors: mora m. Genes (Basel). 2018 Oct 26;9(11):524. doi: 10.3390/genes9110524. Genes (Basel). 2018. PMID: 30373198 Free PMC article.
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers.
Savarese M, Musumeci O, Giugliano T, Rubegni A, Fiorillo C, Fattori F, Torella A, Battini R, Rodolico C, Pugliese A, Piluso G, Maggi L, D'Amico A, Bruno C, Bertini E, Santorelli FM, Mora M, Toscano A, Minetti C, Nigro V. Savarese M, et al. Among authors: mora m. Neuromuscul Disord. 2016 Apr-May;26(4-5):292-9. doi: 10.1016/j.nmd.2016.02.004. Epub 2016 Feb 17. Neuromuscul Disord. 2016. PMID: 27017278 Free PMC article.
New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients.
Piga D, Magri F, Ronchi D, Corti S, Cassandrini D, Mercuri E, Tasca G, Bertini E, Fattori F, Toscano A, Messina S, Moroni I, Mora M, Moggio M, Colombo I, Giugliano T, Pane M, Fiorillo C, D'Amico A, Bruno C, Nigro V, Bresolin N, Comi GP. Piga D, et al. Among authors: mora m. J Mol Neurosci. 2016 Jul;59(3):351-9. doi: 10.1007/s12031-016-0739-2. Epub 2016 Apr 22. J Mol Neurosci. 2016. PMID: 27105866
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients.
Savarese M, Di Fruscio G, Torella A, Fiorillo C, Magri F, Fanin M, Ruggiero L, Ricci G, Astrea G, Passamano L, Ruggieri A, Ronchi D, Tasca G, D'Amico A, Janssens S, Farina O, Mutarelli M, Marwah VS, Garofalo A, Giugliano T, Sampaolo S, Del Vecchio Blanco F, Esposito G, Piluso G, D'Ambrosio P, Petillo R, Musumeci O, Rodolico C, Messina S, Evilä A, Hackman P, Filosto M, Di Iorio G, Siciliano G, Mora M, Maggi L, Minetti C, Sacconi S, Santoro L, Claes K, Vercelli L, Mongini T, Ricci E, Gualandi F, Tupler R, De Bleecker J, Udd B, Toscano A, Moggio M, Pegoraro E, Bertini E, Mercuri E, Angelini C, Santorelli FM, Politano L, Bruno C, Comi GP, Nigro V. Savarese M, et al. Among authors: mora m. Neurology. 2016 Jul 5;87(1):71-6. doi: 10.1212/WNL.0000000000002800. Epub 2016 Jun 8. Neurology. 2016. PMID: 27281536 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.
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.
Astrea G, Romano A, Angelini C, Antozzi CG, Barresi R, Battini R, Battisti C, Bertini E, Bruno C, Cassandrini D, Fanin M, Fattori F, Fiorillo C, Guerrini R, Maggi L, Mercuri E, Morani F, Mora M, Moro F, Pezzini I, Picillo E, Pinelli M, Politano L, Rubegni A, Sanseverino W, Savarese M, Striano P, Torella A, Trevisan CP, Trovato R, Zaraieva I, Muntoni F, Nigro V, D'Amico A, Santorelli FM; Italian CMD Network. Astrea G, et al. Among authors: mora m. Orphanet J Rare Dis. 2018 Sep 26;13(1):170. doi: 10.1186/s13023-018-0863-x. Orphanet J Rare Dis. 2018. PMID: 30257713 Free PMC article.
Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort.
Catteruccia M, Fattori F, Codemo V, Ruggiero L, Maggi L, Tasca G, Fiorillo C, Pane M, Berardinelli A, Verardo M, Bragato C, Mora M, Morandi L, Bruno C, Santoro L, Pegoraro E, Mercuri E, Bertini E, D'Amico A. Catteruccia M, et al. Among authors: mora m. Neuromuscul Disord. 2013 Mar;23(3):229-38. doi: 10.1016/j.nmd.2012.12.009. Epub 2013 Feb 8. Neuromuscul Disord. 2013. PMID: 23394783 Free PMC article.
Prevalence of congenital muscular dystrophy in Italy: a population study.
Graziano A, Bianco F, D'Amico A, Moroni I, Messina S, Bruno C, Pegoraro E, Mora M, Astrea G, Magri F, Comi GP, Berardinelli A, Moggio M, Morandi L, Pini A, Petillo R, Tasca G, Monforte M, Minetti C, Mongini T, Ricci E, Gorni K, Battini R, Villanova M, Politano L, Gualandi F, Ferlini A, Muntoni F, Santorelli FM, Bertini E, Pane M, Mercuri E. Graziano A, et al. Among authors: mora m. Neurology. 2015 Mar 3;84(9):904-11. doi: 10.1212/WNL.0000000000001303. Epub 2015 Feb 4. Neurology. 2015. PMID: 25653289 Free PMC article.
Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.
Fattori F, Maggi L, Bruno C, Cassandrini D, Codemo V, Catteruccia M, Tasca G, Berardinelli A, Magri F, Pane M, Rubegni A, Santoro L, Ruggiero L, Fiorini P, Pini A, Mongini T, Messina S, Brisca G, Colombo I, Astrea G, Fiorillo C, Bragato C, Moroni I, Pegoraro E, D'Apice MR, Alfei E, Mora M, Morandi L, Donati A, Evilä A, Vihola A, Udd B, Bernansconi P, Mercuri E, Santorelli FM, Bertini E, D'Amico A. Fattori F, et al. Among authors: mora m. J Neurol. 2015 Jul;262(7):1728-40. doi: 10.1007/s00415-015-7757-9. Epub 2015 May 10. J Neurol. 2015. PMID: 25957634
1,303 results