Scala M - Search Results

1

Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213.

Ognibene M, Scala M, Iacomino M, Schiavetti I, Madia F, Traverso M, Guerrisi S, Di Duca M, Caroli F, Baldassari S, Tappino B, Romano F, Uva P, Vozzi D, Chelleri C, Piatelli G, Diana MC, Zara F, Capra V, Pavanello M, De Marco P. Ognibene M, et al. Among authors: scala m. Cancers (Basel). 2023 Mar 22;15(6):1916. doi: 10.3390/cancers15061916. Cancers (Basel). 2023. PMID: 36980803 Free PMC article.

2

Atypical choroid plexus papilloma: spontaneous resolution of diffuse leptomeningeal contrast enhancement after primary tumor removal in 2 pediatric cases.

Scala M, Morana G, Milanaccio C, Pavanello M, Nozza P, Garrè ML. Scala M, et al. J Neurosurg Pediatr. 2017 Sep;20(3):284-288. doi: 10.3171/2017.2.PEDS16526. Epub 2017 Jul 7. J Neurosurg Pediatr. 2017. PMID: 28686125

3

A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions.

Scala M, Accogli A, De Grandis E, Allegri A, Bagowski CP, Shoukier M, Maghnie M, Capra V. Scala M, et al. Am J Med Genet A. 2018 Mar;176(3):663-667. doi: 10.1002/ajmg.a.38593. Epub 2018 Jan 5. Am J Med Genet A. 2018. PMID: 29314551 Review.

4

When and why is surgical revascularization indicated for the treatment of moyamoya syndrome in patients with RASopathies? A systematic review of the literature and a single institute experience.

Scala M, Fiaschi P, Capra V, Garrè ML, Tortora D, Ravegnani M, Pavanello M. Scala M, et al. Childs Nerv Syst. 2018 Jul;34(7):1311-1323. doi: 10.1007/s00381-018-3833-7. Epub 2018 May 24. Childs Nerv Syst. 2018. PMID: 29797062

5

CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations.

Accogli A, Scala M, Calcagno A, Napoli F, Di Iorgi N, Arrigo S, Mancardi MM, Prato G, Pisciotta L, Nagel M, Severino M, Capra V. Accogli A, et al. Among authors: scala m. Eur J Med Genet. 2019 Mar;62(3):198-203. doi: 10.1016/j.ejmg.2018.07.014. Epub 2018 Jul 17. Eur J Med Genet. 2019. PMID: 30026055

6

Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome.

Accogli A, Scala M, Calcagno A, Castello R, Torella A, Musacchia F, Allegri AME, Mancardi MM, Maghnie M, Severino M; Telethon Undiagnosed Diseases Program; Nigro V, Capra V. Accogli A, et al. Among authors: scala m. Am J Med Genet A. 2018 Dec;176(12):2835-2840. doi: 10.1002/ajmg.a.40534. Epub 2018 Sep 20. Am J Med Genet A. 2018. PMID: 30238602 Review.

7

Familial ROBO1 deletion associated with ectopic posterior pituitary, duplication of the pituitary stalk and anterior pituitary hypoplasia.

Scala M, Accogli A, Allegri AME, Tassano E, Severino M, Morana G, Maghnie M, Capra V. Scala M, et al. J Pediatr Endocrinol Metab. 2019 Jan 28;32(1):95-99. doi: 10.1515/jpem-2018-0272. J Pediatr Endocrinol Metab. 2019. PMID: 30530901

8

Radiation-Induced Moyamoya Syndrome After Proton Therapy in Child with Clival Chordoma: Natural History and Surgical Treatment.

Scala M, Vennarini S, Garrè ML, Tortora D, Cianchetti M, Fellin F, Lorentini S, Pavanello M. Scala M, et al. World Neurosurg. 2019 Mar;123:306-309. doi: 10.1016/j.wneu.2018.12.048. Epub 2018 Dec 22. World Neurosurg. 2019. PMID: 30583132

9

Aggressive desmoid fibromatosis in Kabuki syndrome: Expanding the tumor spectrum.

Scala M, Morana G, Sementa AR, Merla G, Piatelli G, Capra V, Pavanello M. Scala M, et al. Pediatr Blood Cancer. 2019 Sep;66(9):e27831. doi: 10.1002/pbc.27831. Epub 2019 May 27. Pediatr Blood Cancer. 2019. PMID: 31131956 No abstract available.

10

Pelizaeus-Merzbacher Disease due to PLP1 Frameshift Mutation in a Female with Nonrandom Skewed X-Chromosome Inactivation.

Scala M, Traverso M, Capra V, Vari MS, Severino M, Grossi S, Zara F, Striano P, Minetti C. Scala M, et al. Neuropediatrics. 2019 Aug;50(4):268-270. doi: 10.1055/s-0039-1688954. Epub 2019 May 28. Neuropediatrics. 2019. PMID: 31137068 No abstract available.

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