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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. 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.
ANT1 is reduced in sporadic inclusion body myositis.
Barca E, Aguennouz M, Mazzeo A, Messina S, Toscano A, Vita GL, Portaro S, Parisi D, Rodolico C. Barca E, et al. Among authors: rodolico c. Neurol Sci. 2013 Feb;34(2):217-24. doi: 10.1007/s10072-012-0976-2. Epub 2012 Feb 21. Neurol Sci. 2013. PMID: 22350218
Long-term follow-up in infantile-onset lambert-eaton myasthenic syndrome.
Portaro S, Parisi D, Polizzi A, Ruggieri M, Andreetta F, Bernasconi P, Toscano A, Rodolico C. Portaro S, et al. Among authors: rodolico c. J Child Neurol. 2014 Sep;29(9):NP58-61. doi: 10.1177/0883073813499970. Epub 2013 Oct 10. J Child Neurol. 2014. PMID: 24114606
156 results