Scala M - Search Results

1

Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasia.

Romano F, Amadori E, Madia F, Severino M, Capra V, Rizzo R, Barone R, Corradi B, Maragliano L, Shams Nosrati MS, Falace A, Striano P, Zara F, Scala M. Romano F, et al. Among authors: scala m. Front Pediatr. 2023 Dec 21;11:1326552. doi: 10.3389/fped.2023.1326552. eCollection 2023. Front Pediatr. 2023. PMID: 38178912 Free PMC article.

2

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.

3

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

4

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

5

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.

6

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

7

Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females.

Scala M, Torella A, Severino M, Morana G, Castello R, Accogli A, Verrico A, Vari MS, Cappuccio G, Pinelli M, Vitiello G, Terrone G, D'Amico A; TUDP consortium; Nigro V, Capra V. Scala M, et al. Eur J Hum Genet. 2019 Aug;27(8):1254-1259. doi: 10.1038/s41431-019-0392-7. Epub 2019 Apr 1. Eur J Hum Genet. 2019. PMID: 30936465 Free PMC article.

8

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.

9

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.

10

Abnormal circadian rhythm in patients with GRIN1-related developmental epileptic encephalopathy.

Scala M, Amadori E, Fusco L, Marchese F, Capra V, Minetti C, Vari MS, Striano P. Scala M, et al. Eur J Paediatr Neurol. 2019 Jul;23(4):657-661. doi: 10.1016/j.ejpn.2019.05.011. Epub 2019 May 24. Eur J Paediatr Neurol. 2019. PMID: 31176596

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