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438 results

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Page 1
Congenital muscular dystrophies with cognitive impairment. A population study.
Messina S, Bruno C, Moroni I, Pegoraro E, D'Amico A, Biancheri R, Berardinelli A, Boffi P, Cassandrini D, Farina L, Minetti C, Moggio M, Mongini T, Mottarelli E, Pane M, Pantaleoni C, Pichiecchio A, Pini A, Ricci E, Saredi S, Sframeli M, Tortorella G, Toscano A, Trevisan CP, Uggetti C, Vasco G, Comi GP, Santorelli FM, Bertini E, Mercuri E. Messina S, et al. Among authors: farina l. Neurology. 2010 Sep 7;75(10):898-903. doi: 10.1212/WNL.0b013e3181f11dd5. Neurology. 2010. PMID: 20820001
Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease.
Saredi S, Ardissone A, Ruggieri A, Mottarelli E, Farina L, Rinaldi R, Silvestri E, Gandioli C, D'Arrigo S, Salerno F, Morandi L, Grammatico P, Pantaleoni C, Moroni I, Mora M. Saredi S, et al. Among authors: farina l. J Neurol Sci. 2012 Jul 15;318(1-2):45-50. doi: 10.1016/j.jns.2012.04.008. Epub 2012 May 2. J Neurol Sci. 2012. PMID: 22554691 Free PMC article.
A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders.
Ardissone A, Piscosquito G, Legati A, Langella T, Lamantea E, Garavaglia B, Salsano E, Farina L, Moroni I, Pareyson D, Ghezzi D. Ardissone A, et al. Among authors: farina l. Neurology. 2015 May 26;84(21):2193-5. doi: 10.1212/WNL.0000000000001613. Epub 2015 May 1. Neurology. 2015. PMID: 25934856 Free PMC article. No abstract available.
Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes.
Torraco A, Ardissone A, Invernizzi F, Rizza T, Fiermonte G, Niceta M, Zanetti N, Martinelli D, Vozza A, Verrigni D, Di Nottia M, Lamantea E, Diodato D, Tartaglia M, Dionisi-Vici C, Moroni I, Farina L, Bertini E, Ghezzi D, Carrozzo R. Torraco A, et al. Among authors: farina l. J Neurol. 2017 Jan;264(1):102-111. doi: 10.1007/s00415-016-8312-z. Epub 2016 Oct 26. J Neurol. 2017. PMID: 27785568
KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature.
Ardissone A, Tonduti D, Legati A, Lamantea E, Barone R, Dorboz I, Boespflug-Tanguy O, Nebbia G, Maggioni M, Garavaglia B, Moroni I, Farina L, Pichiecchio A, Orcesi S, Chiapparini L, Ghezzi D. Ardissone A, et al. Among authors: farina l. Orphanet J Rare Dis. 2018 Apr 4;13(1):45. doi: 10.1186/s13023-018-0788-4. Orphanet J Rare Dis. 2018. PMID: 29615062 Free PMC article. Review.
438 results