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2,888 results

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Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2.
Battini R, D'Arrigo S, Cassandrini D, Guzzetta A, Fiorillo C, Pantaleoni C, Romano A, Alfei E, Cioni G, Santorelli FM. Battini R, et al. Among authors: romano a. J Child Neurol. 2014 Apr;29(4):520-5. doi: 10.1177/0883073812470002. Epub 2013 Jan 9. J Child Neurol. 2014. PMID: 23307886
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: romano a. Neurogenetics. 2012 Aug;13(3):195-203. doi: 10.1007/s10048-012-0328-7. Epub 2012 Apr 25. Neurogenetics. 2012. PMID: 22526352
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: romano a. 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.
Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review.
Mari F, Berti B, Romano A, Baldacci J, Rizzi R, Grazia Alessandrì M, Tessa A, Procopio E, Rubegni A, Lourenḉo CM, Simonati A, Guerrini R, Santorelli FM. Mari F, et al. Among authors: romano a. Neurogenetics. 2018 May;19(2):123-130. doi: 10.1007/s10048-018-0538-8. Epub 2018 Feb 8. Neurogenetics. 2018. PMID: 29423566 Review.
Mitochondrial DNA metabolism in early development of zebrafish (Danio rerio).
Artuso L, Romano A, Verri T, Domenichini A, Argenton F, Santorelli FM, Petruzzella V. Artuso L, et al. Among authors: romano a. Biochim Biophys Acta. 2012 Jul;1817(7):1002-11. doi: 10.1016/j.bbabio.2012.03.019. Epub 2012 Mar 23. Biochim Biophys Acta. 2012. PMID: 22465854 Free article.
TBK1 mutations in Italian patients with amyotrophic lateral sclerosis: genetic and functional characterisation.
Pozzi L, Valenza F, Mosca L, Dal Mas A, Domi T, Romano A, Tarlarini C, Falzone YM, Tremolizzo L, Sorarù G, Cerri F, Ferraro PM, Basaia S, Agosta F, Fazio R, Comola M, Comi G, Ferrari M, Quattrini A, Lunetta C, Penco S, Bonanomi D, Carrera P, Riva N. Pozzi L, et al. Among authors: romano a. J Neurol Neurosurg Psychiatry. 2017 Oct;88(10):869-875. doi: 10.1136/jnnp-2017-316174. Epub 2017 Aug 19. J Neurol Neurosurg Psychiatry. 2017. PMID: 28822984 Free PMC article.
2,888 results