Bernardo P - Search Results

1

Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense RNF213 Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literature Review.

Santoro C, Mirone G, Zanobio M, Ranucci G, D'Amico A, Cicala D, Iascone M, Bernardo P, Piccolo V, Ronchi A, Limongelli G, Carotenuto M, Nigro V, Cinalli G, Piluso G. Santoro C, et al. Among authors: bernardo p. Int J Mol Sci. 2022 Aug 11;23(16):8952. doi: 10.3390/ijms23168952. Int J Mol Sci. 2022. PMID: 36012218 Free PMC article. Review.

2

Multiple spinal nerve enlargement and SOS1 mutation: Further evidence of overlap between neurofibromatosis type 1 and Noonan phenotype.

Santoro C, Giugliano T, Melone MAB, Cirillo M, Schettino C, Bernardo P, Cirillo G, Perrotta S, Piluso G. Santoro C, et al. Among authors: bernardo p. Clin Genet. 2018 Jan;93(1):138-143. doi: 10.1111/cge.13047. Epub 2017 Sep 15. Clin Genet. 2018. PMID: 28456002

3

UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism.

Giugliano T, Santoro C, Torella A, Del Vecchio Blanco F, Bernardo P, Nigro V, Piluso G. Giugliano T, et al. Among authors: bernardo p. Am J Med Genet A. 2018 Mar;176(3):722-726. doi: 10.1002/ajmg.a.38589. Epub 2017 Dec 28. Am J Med Genet A. 2018. PMID: 29283210

4

Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?

Santoro C, Bernardo P, Coppola A, Pugliese U, Cirillo M, Giugliano T, Piluso G, Cinalli G, Striano S, Bravaccio C, Perrotta S. Santoro C, et al. Among authors: bernardo p. Ital J Pediatr. 2018 Mar 22;44(1):41. doi: 10.1186/s13052-018-0477-x. Ital J Pediatr. 2018. PMID: 29566708 Free PMC article.

5

Report on a child with neurofibromatosis type 2 and unilateral moyamoya: further evidence of cerebral vasculopathy in NF2.

Santoro C, Palladino F, Bernardo P, Cinalli G, Mirone G, Giugliano T, Piluso G, Perrotta S. Santoro C, et al. Among authors: bernardo p. Neurol Sci. 2019 Jul;40(7):1475-1476. doi: 10.1007/s10072-019-3728-8. Epub 2019 Jan 21. Neurol Sci. 2019. PMID: 30666475 No abstract available.

6

Epilepsy in Rett Syndrome: can seizures play an encephalopathic effect in this disorder?

Bernardo P, Coppola A, Terrone G, Riccio MP, Santoro C, Del Giudice E, Bravaccio C. Bernardo P, et al. Minerva Pediatr. 2019 Aug;71(4):391-393. doi: 10.23736/S0026-4946.19.05309-X. Epub 2019 Apr 5. Minerva Pediatr. 2019. PMID: 30961341 No abstract available.

7

High-functioning autism spectrum disorder with fluent speech and late-onset epilepsy: an unusual presentation of Inv-Dup (15) syndrome.

Bernardo P, Del Gaudio L, Madia F, Riccio MP, Marino M, Santoro C, Caccavale C, Striano S, Bravaccio C, Coppola A. Bernardo P, et al. Neurocase. 2019 Feb-Apr;25(1-2):62-65. doi: 10.1080/13554794.2019.1602144. Epub 2019 Apr 16. Neurocase. 2019. PMID: 30991884

8

Clinical evolution and epilepsy outcome in three patients with CDKL5-related developmental encephalopathy.

Bernardo P, Ferretti A, Terrone G, Santoro C, Bravaccio C, Striano S, Coppola A, Striano P. Bernardo P, et al. Epileptic Disord. 2019 Jun 1;21(3):271-277. doi: 10.1684/epd.2019.1071. Epileptic Disord. 2019. PMID: 31225800

9

Epilepsy in NF1: a systematic review of the literature.

Bernardo P, Cinalli G, Santoro C. Bernardo P, et al. Childs Nerv Syst. 2020 Oct;36(10):2333-2350. doi: 10.1007/s00381-020-04710-7. Epub 2020 Jul 1. Childs Nerv Syst. 2020. PMID: 32613422

10

Epilepsy surgery in neurofibromatosis type 1: an overlooked therapeutic approach.

Bernardo P, Santoro C, Rubino A, Mirone G, Cinalli G. Bernardo P, et al. Childs Nerv Syst. 2020 Dec;36(12):2909-2910. doi: 10.1007/s00381-020-04841-x. Epub 2020 Jul 30. Childs Nerv Syst. 2020. PMID: 32734402 No abstract available.

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