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643 results

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Page 1
Infantile-Onset Pompe Disease: The Care Beyond the Cure.
Astrea G, Perazza S, Frosini S, Moretti E, Sacchini M, Dati E, Pecini C, Procopio E, Santorelli FM, Donati MA, Battini R. Astrea G, et al. Among authors: santorelli fm. J Neuromuscul Dis. 2015;2(s1):S58-S59. J Neuromuscul Dis. 2015. PMID: 27858649 No abstract available.
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: santorelli fm. Neurogenetics. 2012 Aug;13(3):195-203. doi: 10.1007/s10048-012-0328-7. Epub 2012 Apr 25. Neurogenetics. 2012. PMID: 22526352
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: santorelli fm. 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: santorelli fm. 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
Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients.
Catteruccia M, Verrigni D, Martinelli D, Torraco A, Agovino T, Bonafé L, D'Amico A, Donati MA, Adorisio R, Santorelli FM, Carrozzo R, Bertini E, Dionisi-Vici C. Catteruccia M, et al. Among authors: santorelli fm. Mol Genet Metab. 2014 Mar;111(3):353-359. doi: 10.1016/j.ymgme.2014.01.001. Epub 2014 Jan 8. Mol Genet Metab. 2014. PMID: 24485043
Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy.
Diodato D, Invernizzi F, Lamantea E, Fagiolari G, Parini R, Menni F, Parenti G, Bollani L, Pasquini E, Donati MA, Cassandrini D, Santorelli FM, Haack TB, Prokisch H, Ghezzi D, Lamperti C, Zeviani M. Diodato D, et al. Among authors: santorelli fm. JIMD Rep. 2015;15:71-8. doi: 10.1007/8904_2014_300. Epub 2014 Apr 17. JIMD Rep. 2015. PMID: 24740313 Free PMC article.
Friedreich's Ataxia Presenting as Isolated Spastic Paraparesis.
Tessa A, Fiorillo C, De Grandis D, Astrea G, Perazza S, Filla A, Santorelli FM. Tessa A, et al. Among authors: santorelli fm. Can J Neurol Sci. 2014 Sep;41(5):666-8. doi: 10.1017/cjn.2014.28. Can J Neurol Sci. 2014. PMID: 25373823 No abstract available.
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: santorelli fm. Neurology. 2015 Mar 3;84(9):904-11. doi: 10.1212/WNL.0000000000001303. Epub 2015 Feb 4. Neurology. 2015. PMID: 25653289 Free PMC article.
643 results