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Page 1
TRPV4 mutations in children with congenital distal spinal muscular atrophy.
Fiorillo C, Moro F, Brisca G, Astrea G, Nesti C, Bálint Z, Olschewski A, Meschini MC, Guelly C, Auer-Grumbach M, Battini R, Pedemonte M, Romano A, Menchise V, Biancheri R, Santorelli FM, Bruno C. Fiorillo C, et al. Among authors: astrea g. Neurogenetics. 2012 Aug;13(3):195-203. doi: 10.1007/s10048-012-0328-7. Epub 2012 Apr 25. Neurogenetics. 2012. PMID: 22526352
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy.
Bello L, Piva L, Barp A, Taglia A, Picillo E, Vasco G, Pane M, Previtali SC, Torrente Y, Gazzerro E, Motta MC, Grieco GS, Napolitano S, Magri F, D'Amico A, Astrea G, Messina S, Sframeli M, Vita GL, Boffi P, Mongini T, Ferlini A, Gualandi F, Soraru' G, Ermani M, Vita G, Battini R, Bertini E, Comi GP, Berardinelli A, Minetti C, Bruno C, Mercuri E, Politano L, Angelini C, Hoffman EP, Pegoraro E. Bello L, et al. Among authors: astrea g. Neurology. 2012 Jul 10;79(2):159-62. doi: 10.1212/WNL.0b013e31825f04ea. Epub 2012 Jun 27. Neurology. 2012. PMID: 22744661 Free PMC article.
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene.
Fiorillo C, Brisca G, Cassandrini D, Scapolan S, Astrea G, Valle M, Scuderi F, Trucco F, Natali A, Magnano G, Gazzerro E, Minetti C, Arca M, Santorelli FM, Bruno C. Fiorillo C, et al. Among authors: astrea g. Biochem Biophys Res Commun. 2013 Jan 4;430(1):241-4. doi: 10.1016/j.bbrc.2012.10.127. Epub 2012 Nov 9. Biochem Biophys Res Commun. 2013. PMID: 23146629
Novel mutations in the fukutin gene in a boy with asymptomatic hyperCKemia.
Fiorillo C, Moro F, Astrea G, Morales MA, Baldacci J, Marchese M, Scapolan S, Bruno C, Battini R, Santorelli FM. Fiorillo C, et al. Among authors: astrea g. Neuromuscul Disord. 2013 Dec;23(12):1010-5. doi: 10.1016/j.nmd.2013.09.010. Epub 2013 Oct 1. Neuromuscul Disord. 2013. PMID: 24144914
"I have got something positive out of this situation": psychological benefits of caregiving in relatives of young people with muscular dystrophy.
Magliano L, Patalano M, Sagliocchi A, Scutifero M, Zaccaro A, D'Angelo MG, Civati F, Brighina E, Vita G, Vita GL, Messina S, Sframeli M, Pane M, Lombardo ME, Scalise R, D'Amico A, Colia G, Catteruccia M, Balottin U, Berardinelli A, Motta MC, Angelini C, Gaiani A, Semplicini C, Bello L, Battini R, Astrea G, Ricci G, Politano L. Magliano L, et al. Among authors: astrea g. J Neurol. 2014 Jan;261(1):188-95. doi: 10.1007/s00415-013-7176-8. Epub 2013 Nov 8. J Neurol. 2014. PMID: 24202786 Free PMC article.
Burden, professional support, and social network in families of children and young adults with muscular dystrophies.
Magliano L, Patalano M, Sagliocchi A, Scutifero M, Zaccaro A, D'angelo MG, Civati F, Brighina E, Vita G, Vita GL, Messina S, Sframeli M, Pane M, Lombardo ME, Scalise R, D'amico A, Colia G, Catteruccia M, Balottin U, Berardinelli A, Chiara Motta M, Angelini C, Gaiani A, Semplicini C, Bello L, Battini R, Astrea G, Politano L. Magliano L, et al. Among authors: astrea g. Muscle Nerve. 2015 Jul;52(1):13-21. doi: 10.1002/mus.24503. Epub 2015 Apr 22. Muscle Nerve. 2015. PMID: 25363165 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: astrea g. Neurology. 2015 Mar 3;84(9):904-11. doi: 10.1212/WNL.0000000000001303. Epub 2015 Feb 4. Neurology. 2015. PMID: 25653289 Free PMC article.
80 results