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Year Number of Results
2006 1
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35 results

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Page 1
Neurological phenotype of Potocki-Lupski syndrome.
Ciaccio C, Pantaleoni C, Milani D, Alfei E, Sciacca FL, Canafoglia L, Erbetta A, D'Arrigo S. Ciaccio C, et al. Among authors: alfei e. Am J Med Genet A. 2020 Oct;182(10):2317-2324. doi: 10.1002/ajmg.a.61789. Epub 2020 Aug 15. Am J Med Genet A. 2020. PMID: 33043631
Rock around DYRK1A: Ethnic diversity, clinical challenges.
Moroni A, Pezzani L, Alfei E, Scatigno A, Cereda A, Marzaroli M, Guuva C, Gabbiadini S, Pezzoli L, Marchetti D, Spaccini L, Iascone M. Moroni A, et al. Among authors: alfei e. Am J Med Genet A. 2023 May;191(5):1459-1464. doi: 10.1002/ajmg.a.63140. Epub 2023 Feb 11. Am J Med Genet A. 2023. PMID: 36772973
CDKL5 deficiency disorder in males: Five new variants and review of the literature.
Siri B, Varesio C, Freri E, Darra F, Gana S, Mei D, Porta F, Fontana E, Galati G, Solazzi R, Niceta M, Veggiotti P, Alfei E. Siri B, et al. Among authors: alfei e. Eur J Paediatr Neurol. 2021 Jul;33:9-20. doi: 10.1016/j.ejpn.2021.04.007. Epub 2021 Apr 30. Eur J Paediatr Neurol. 2021. PMID: 33989939 Review.
EEG at onset and MRI predict long-term clinical outcome in Aicardi syndrome.
Masnada S, Alfei E, Formica M, Previtali R, Accorsi P, Arrigoni F, Bonanni P, Borgatti R, Darra F, Fusco C, De Giorgis V, Giordano L, La Briola F, Orcesi S, Osanni E, Parazzini C, Pinelli L, Rebessi E, Romaniello R, Romeo A, Spagnoli C, Uebler C, Varesio C, Viri M, Zucca C, Pichiecchio A, Veggiotti P. Masnada S, et al. Among authors: alfei e. Clin Neurophysiol. 2022 Oct;142:112-124. doi: 10.1016/j.clinph.2022.07.496. Epub 2022 Aug 3. Clin Neurophysiol. 2022. PMID: 36030575
CGH Findings in Children with Complex and Essential Autistic Spectrum Disorder.
Annunziata S, Bulgheroni S, D'Arrigo S, Esposito S, Taddei M, Saletti V, Alfei E, Sciacca FL, Rizzo A, Pantaleoni C, Riva D. Annunziata S, et al. Among authors: alfei e. J Autism Dev Disord. 2023 Feb;53(2):615-623. doi: 10.1007/s10803-020-04833-5. Epub 2021 Jan 4. J Autism Dev Disord. 2023. PMID: 33394245
Menkes disease complicated by concurrent ACY1 deficiency: A case report.
Mauri A, Saielli LA, Alfei E, Iascone M, Marchetti D, Cattaneo E, Di Lauro A, Antonelli L, Alberti L, Bonaventura E, Veggiotti P, Spaccini L, Cereda C. Mauri A, et al. Among authors: alfei e. Front Genet. 2023 Mar 2;14:1077625. doi: 10.3389/fgene.2023.1077625. eCollection 2023. Front Genet. 2023. PMID: 36936426 Free PMC article.
PDCD10 gene mutations in multiple cerebral cavernous malformations.
Cigoli MS, Avemaria F, De Benedetti S, Gesu GP, Accorsi LG, Parmigiani S, Corona MF, Capra V, Mosca A, Giovannini S, Notturno F, Ciccocioppo F, Volpi L, Estienne M, De Michele G, Antenora A, Bilo L, Tavoni A, Zamponi N, Alfei E, Baranello G, Riva D, Penco S. Cigoli MS, et al. Among authors: alfei e. PLoS One. 2014 Oct 29;9(10):e110438. doi: 10.1371/journal.pone.0110438. eCollection 2014. PLoS One. 2014. PMID: 25354366 Free PMC article.
35 results