Masnada S - Search Results

1

Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical Features.

Piccoli C, Bronner N, Gavazzi F, Dubbs H, De Simone M, De Giorgis V, Orcesi S, Fazzi E, Galli J, Masnada S, Tonduti D, Varesio C, Vanderver A, Vossough A, Adang L. Piccoli C, et al. Among authors: masnada s. Pediatr Neurol. 2021 Feb;115:1-6. doi: 10.1016/j.pediatrneurol.2020.10.012. Epub 2020 Nov 2. Pediatr Neurol. 2021. PMID: 33307271 Free PMC article.

2

Intravenous methylprednisolone pulse therapy for children with epileptic encephalopathy.

Pera MC, Randazzo G, Masnada S, Dontin SD, De Giorgis V, Balottin U, Veggiotti P. Pera MC, et al. Among authors: masnada s. Funct Neurol. 2015 Jul-Sep;30(3):173-9. doi: 10.11138/fneur/2015.30.3.173. Funct Neurol. 2015. PMID: 26910177 Free PMC article.

3

Neurobehavioral consequences of continuous spike and waves during slow sleep (CSWS) in a pediatric population: A pattern of developmental hindrance.

De Giorgis V, Filippini M, Macasaet JA, Masnada S, Veggiotti P. De Giorgis V, et al. Among authors: masnada s. Epilepsy Behav. 2017 Sep;74:1-9. doi: 10.1016/j.yebeh.2017.01.018. Epub 2017 Jun 24. Epilepsy Behav. 2017. PMID: 28654799

4

Ketogenic diet use in children with intractable epilepsy secondary to malformations of cortical development: A two- centre experience.

Pasca L, Caraballo RH, De Giorgis V, Reyes JG, Macasaet JA, Masnada S, Armeno M, Musicco M, Tagliabue A, Veggiotti P. Pasca L, et al. Among authors: masnada s. Seizure. 2018 Apr;57:34-37. doi: 10.1016/j.seizure.2018.03.005. Epub 2018 Mar 8. Seizure. 2018. PMID: 29554640 Free article.

5

Overall cognitive profiles in patients with GLUT1 Deficiency Syndrome.

De Giorgis V, Masnada S, Varesio C, Chiappedi MA, Zanaboni M, Pasca L, Filippini M, Macasaet JA, Valente M, Ferraris C, Tagliabue A, Veggiotti P. De Giorgis V, et al. Among authors: masnada s. Brain Behav. 2019 Mar;9(3):e01224. doi: 10.1002/brb3.1224. Epub 2019 Feb 4. Brain Behav. 2019. PMID: 30714351 Free PMC article.

6

Quality of Life in Chronic Ketogenic Diet Treatment: The GLUT1DS Population Perspective.

Varesio C, Pasca L, Parravicini S, Zanaboni MP, Ballante E, Masnada S, Ferraris C, Bertoli S, Tagliabue A, Veggiotti P, De Giorgis V. Varesio C, et al. Among authors: masnada s. Nutrients. 2019 Jul 19;11(7):1650. doi: 10.3390/nu11071650. Nutrients. 2019. PMID: 31330987 Free PMC article.

7

Novel mutations in SLC16A2 associated with a less severe phenotype of MCT8 deficiency.

Masnada S, Groenweg S, Saletti V, Chiapparini L, Castellotti B, Salsano E, Visser WE, Tonduti D. Masnada S, et al. Metab Brain Dis. 2019 Dec;34(6):1565-1575. doi: 10.1007/s11011-019-00464-7. Epub 2019 Jul 22. Metab Brain Dis. 2019. PMID: 31332729

8

Glucose transporter 1 deficiency syndrome: nutritional and growth pattern phenotypes at diagnosis.

Bertoli S, Masnada S, De Amicis R, Sangiorgio A, Leone A, Gambino M, Lessa C, Tagliabue A, Ferraris C, De Giorgis V, Battezzati A, Zuccotti GV, Veggiotti P, Mameli C. Bertoli S, et al. Among authors: masnada s. Eur J Clin Nutr. 2020 Sep;74(9):1290-1298. doi: 10.1038/s41430-020-0662-z. Epub 2020 May 13. Eur J Clin Nutr. 2020. PMID: 32404902

9

3D facial morphometry in Italian patients affected by Aicardi syndrome.

Masnada S, Gibelli D, Dolci C, De Giorgis V, Cappella A, Veggiotti P, Sforza C; Italian Aicardi Study Group. Masnada S, et al. Am J Med Genet A. 2020 Oct;182(10):2325-2332. doi: 10.1002/ajmg.a.61791. Epub 2020 Aug 15. Am J Med Genet A. 2020. PMID: 32798292 Free article.

10

Phenotypic spectrum of short-chain enoyl-Coa hydratase-1 (ECHS1) deficiency.

Masnada S, Parazzini C, Bini P, Barbarini M, Alberti L, Valente M, Chiapparini L, De Silvestri A, Doneda C, Iascone M, Saielli LA, Cereda C, Veggiotti P, Corbetta C, Tonduti D. Masnada S, et al. Eur J Paediatr Neurol. 2020 Sep;28:151-158. doi: 10.1016/j.ejpn.2020.07.007. Epub 2020 Jul 29. Eur J Paediatr Neurol. 2020. PMID: 32800686

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