Vari MS - Search Results

1

Pediatric SARS-CoV-2-Related Diplopia and Mesencephalic Abnormalities.

Signa S, Brolatti N, Trincianti C, Tortora D, Saffioti C, Di Marco E, Acquila M, Amadori E, Fiorillo C, Ricci E, Striano P, Castagnola E, Vari MS. Signa S, et al. Among authors: vari ms. Neurol Clin Pract. 2022 Oct;12(5):e124-e128. doi: 10.1212/CPJ.0000000000200076. Neurol Clin Pract. 2022. PMID: 36380889 Free PMC article.

2

Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies.

International League Against Epilepsy Consortium on Complex Epilepsies. International League Against Epilepsy Consortium on Complex Epilepsies. Nat Commun. 2018 Dec 10;9(1):5269. doi: 10.1038/s41467-018-07524-z. Nat Commun. 2018. PMID: 30531953 Free PMC article.

3

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.

Montanucci L, Lewis-Smith D, Collins RL, Niestroj LM, Parthasarathy S, Xian J, Ganesan S, Macnee M, Brünger T, Thomas RH, Talkowski M; Epi25 Collaborative; Helbig I, Leu C, Lal D. Montanucci L, et al. Nat Commun. 2023 Jul 20;14(1):4392. doi: 10.1038/s41467-023-39539-6. Nat Commun. 2023. PMID: 37474567 Free PMC article.

4

Todd Paralysis in Rolandic Epilepsy.

Striano P, Vari MS. Striano P, et al. Among authors: vari ms. Pediatr Neurol Briefs. 2015 Jul;29(7):50. doi: 10.15844/pedneurbriefs-29-7-1. Pediatr Neurol Briefs. 2015. PMID: 26933588 Free PMC article.

5

Management of genetic epilepsies: From empirical treatment to precision medicine.

Striano P, Vari MS, Mazzocchetti C, Verrotti A, Zara F. Striano P, et al. Among authors: vari ms. Pharmacol Res. 2016 May;107:426-429. doi: 10.1016/j.phrs.2016.04.006. Epub 2016 Apr 11. Pharmacol Res. 2016. PMID: 27080588

6

De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy.

Vari MS, Traverso M, Bellini T, Madia F, Pinto F, Minetti C, Striano P, Zara F. Vari MS, et al. Seizure. 2017 Aug;50:80-82. doi: 10.1016/j.seizure.2017.06.011. Epub 2017 Jun 15. Seizure. 2017. PMID: 28633043 Free article.

7

Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities.

Accogli A, Iacomino M, Pinto F, Orsini A, Vari MS, Selmi R, Torella A, Nigro V, Minetti C, Severino M, Striano P, Capra V, Zara F. Accogli A, et al. Among authors: vari ms. Neurol Genet. 2017 Aug 9;3(5):e179. doi: 10.1212/NXG.0000000000000179. eCollection 2017 Oct. Neurol Genet. 2017. PMID: 28815207 Free PMC article. No abstract available.

8

A novel homozygous MFN2 mutation associated with severe and atypical CMT2 phenotype.

Iapadre G, Morana G, Vari MS, Pinto F, Lanteri P, Tessa A, Santorelli FM, Striano P, Verrotti A. Iapadre G, et al. Among authors: vari ms. Eur J Paediatr Neurol. 2018 May;22(3):563-567. doi: 10.1016/j.ejpn.2017.12.020. Epub 2018 Jan 5. Eur J Paediatr Neurol. 2018. PMID: 29361379

9

Erratum to "De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy" [Seizure 57 (2018) 63-65].

Vari MS, Traverso M, Bellini T, Madia F, Pinto F, Striano P, Minetti C, Zara F. Vari MS, et al. Seizure. 2018 Apr;57:R1. doi: 10.1016/j.seizure.2018.04.003. Seizure. 2018. PMID: 29685396 Free article. No abstract available.

10

Multiorgan mitochondrial dysfunction is not a main feature of MFN2 mutations (Reply to: CMT2 due to homozygous MFN2 variants is a multiorgan mitochondrial disorder).

Striano P, Iapadre G, Vari MS, Verrotti A. Striano P, et al. Among authors: vari ms. Eur J Paediatr Neurol. 2018 Sep;22(5):892-893. doi: 10.1016/j.ejpn.2018.04.011. Epub 2018 Apr 30. Eur J Paediatr Neurol. 2018. PMID: 29748043 No abstract available.

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