Sartori S - Search Results

1

Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohort.

Falsaperla R, Vari MS, Toldo I, Murgia A, Sartori S, Vecchi M, Suppiej A, Burlina A, Mastrangelo M, Leuzzi V, Marchiani V, De Liso P, Capovilla G, Striano P, Vitaliti G; Italian Society of Pediatric Neurology (SINP: Società Italiana di Neurologia Pediatrica). Falsaperla R, et al. Among authors: sartori s. Metab Brain Dis. 2018 Feb;33(1):261-269. doi: 10.1007/s11011-017-0150-x. Epub 2017 Nov 25. Metab Brain Dis. 2018. PMID: 29178011

2

A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease.

Salviati L, Trevisson E, Baldoin MC, Toldo I, Sartori S, Calderone M, Tenconi R, Laverda A. Salviati L, et al. Among authors: sartori s. Neurogenetics. 2007 Jan;8(1):57-60. doi: 10.1007/s10048-006-0065-x. Epub 2006 Oct 10. Neurogenetics. 2007. PMID: 17031678

3

Increased level of N-acetylaspartylglutamate (NAAG) in the CSF of a patient with Pelizaeus-Merzbacher-like disease due to mutation in the GJA12 gene.

Sartori S, Burlina AB, Salviati L, Trevisson E, Toldo I, Laverda AM, Burlina AP. Sartori S, et al. Eur J Paediatr Neurol. 2008 Jul;12(4):348-50. doi: 10.1016/j.ejpn.2007.07.011. Epub 2007 Sep 18. Eur J Paediatr Neurol. 2008. PMID: 17881259

4

Angelman syndrome due to a novel splicing mutation of the UBE3A gene.

Sartori S, Anesi L, Polli R, Toldo I, Casarin A, Drigo P, Murgia A. Sartori S, et al. J Child Neurol. 2008 Aug;23(8):912-5. doi: 10.1177/0883073808316367. Epub 2008 May 16. J Child Neurol. 2008. PMID: 18487518

5

Benign nocturnal alternating hemiplegia of childhood: The first clinical report with paroxysmal events home-video recordings.

Sartori S, Vecchi M, Toldo I, Boniver C, Dalla Bernardina B, Maria Laverda A. Sartori S, et al. Mov Disord. 2008 Aug 15;23(11):1605-8. doi: 10.1002/mds.22180. Mov Disord. 2008. PMID: 18618665

6

Unilateral hypoglossal nerve palsy due to neurovascular conflict in a child.

Toldo I, Manara R, Sartori S, Suppiej A, Drigo P. Toldo I, et al. Among authors: sartori s. Brain Dev. 2009 Jun;31(6):461-4. doi: 10.1016/j.braindev.2008.08.009. Epub 2008 Sep 25. Brain Dev. 2009. PMID: 18819762

7

Diffusion-weighted imaging findings in hemolytic uremic syndrome with central nervous system involvement.

Toldo I, Manara R, Cogo P, Sartori S, Murer L, Battistella PA, Laverda AM. Toldo I, et al. Among authors: sartori s. J Child Neurol. 2009 Feb;24(2):247-50. doi: 10.1177/0883073808323022. Epub 2008 Dec 12. J Child Neurol. 2009. PMID: 19074752

8

A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome.

Sartori S, Di Rosa G, Polli R, Bettella E, Tricomi G, Tortorella G, Murgia A. Sartori S, et al. Am J Med Genet A. 2009 Feb;149A(2):232-6. doi: 10.1002/ajmg.a.32606. Am J Med Genet A. 2009. PMID: 19161156

9

Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria.

Artuso R, Mencarelli MA, Polli R, Sartori S, Ariani F, Pollazzon M, Marozza A, Cilio MR, Specchio N, Vigevano F, Vecchi M, Boniver C, Dalla Bernardina B, Parmeggiani A, Buoni S, Hayek G, Mari F, Renieri A, Murgia A. Artuso R, et al. Among authors: sartori s. Brain Dev. 2010 Jan;32(1):17-24. doi: 10.1016/j.braindev.2009.02.004. Epub 2009 Apr 10. Brain Dev. 2010. PMID: 19362436

10

Early cortical cytotoxic edema in meningococcal meningitis.

Citton V, Toldo I, Calderone M, Sartori S, Manara R. Citton V, et al. Among authors: sartori s. Pediatr Neurol. 2009 Aug;41(2):146-50. doi: 10.1016/j.pediatrneurol.2009.02.021. Pediatr Neurol. 2009. PMID: 19589467

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