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116 results

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Page 1
Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome?
Pane M, Stanca G, Ticci C, Cutrona C, De Sanctis R, Pirinu M, Coratti G, Palermo C, Berti B, Leone D, Sacchini M, Cerboneschi M, Fanelli L, Norcia G, Forcina N, Capasso A, Cicala G, Antonaci L, Ricci M, Pera MC, Bravetti C, Donati MA, Procopio E, Abiusi E, Vaisfeld A, Onesimo R, Tiziano FD, Mercuri E. Pane M, et al. Among authors: procopio e. Eur J Pediatr. 2024 Jul;183(7):2995-2999. doi: 10.1007/s00431-024-05546-y. Epub 2024 Apr 18. Eur J Pediatr. 2024. PMID: 38634892 Free PMC article.
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.
Brancati F, Travaglini L, Zablocka D, Boltshauser E, Accorsi P, Montagna G, Silhavy JL, Barrano G, Bertini E, Emma F, Rigoli L; International JSRD Study Group; Dallapiccola B, Gleeson JG, Valente EM. Brancati F, et al. Clin Genet. 2008 Aug;74(2):164-70. doi: 10.1111/j.1399-0004.2008.01047.x. Epub 2008 Jun 28. Clin Genet. 2008. PMID: 18565097 Free PMC article.
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome.
Garone C, D'Souza AR, Dallabona C, Lodi T, Rebelo-Guiomar P, Rorbach J, Donati MA, Procopio E, Montomoli M, Guerrini R, Zeviani M, Calvo SE, Mootha VK, DiMauro S, Ferrero I, Minczuk M. Garone C, et al. Among authors: procopio e. Hum Mol Genet. 2017 Nov 1;26(21):4257-4266. doi: 10.1093/hmg/ddx314. Hum Mol Genet. 2017. PMID: 28973171 Free PMC article.
Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases.
Ardissone A, Bruno C, Diodato D, Donati A, Ghezzi D, Lamantea E, Lamperti C, Mancuso M, Martinelli D, Primiano G, Procopio E, Rubegni A, Santorelli F, Schiaffino MC, Servidei S, Tubili F, Bertini E, Moroni I. Ardissone A, et al. Among authors: procopio e. Orphanet J Rare Dis. 2021 Oct 9;16(1):413. doi: 10.1186/s13023-021-02029-3. Orphanet J Rare Dis. 2021. PMID: 34627336 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: procopio e. Neurogenetics. 2018 May;19(2):123-130. doi: 10.1007/s10048-018-0538-8. Epub 2018 Feb 8. Neurogenetics. 2018. PMID: 29423566 Review.
Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations.
Marini C, Romoli M, Parrini E, Costa C, Mei D, Mari F, Parmeggiani L, Procopio E, Metitieri T, Cellini E, Virdò S, De Vita D, Gentile M, Prontera P, Calabresi P, Guerrini R. Marini C, et al. Among authors: procopio e. Neurol Genet. 2017 Dec 11;3(6):e206. doi: 10.1212/NXG.0000000000000206. eCollection 2017 Dec. Neurol Genet. 2017. PMID: 29264397 Free PMC article.
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