Giacomini T - Search Results

1

CASK related disorder: Epilepsy and developmental outcome.

Giacomini T, Nuovo S, Zanni G, Mancardi MM, Cusmai R, Pepi C, Bertini E, Valente EM, Battini R, Ferrari A, Romaniello R, Zucca C, Borgatti R, Uccella S, Severino M, Striano P, Pistorio A, Prato G, De Grandis E, Nobili L, Pisciotta L. Giacomini T, et al. Eur J Paediatr Neurol. 2021 Mar;31:61-69. doi: 10.1016/j.ejpn.2021.02.006. Epub 2021 Feb 19. Eur J Paediatr Neurol. 2021. PMID: 33640666

2

Antiepileptic drugs in Rett Syndrome.

Pintaudi M, Calevo MG, Vignoli A, Baglietto MG, Hayek Y, Traverso M, Giacomini T, Giordano L, Renieri A, Russo S, Canevini M, Veneselli E. Pintaudi M, et al. Among authors: giacomini t. Eur J Paediatr Neurol. 2015 Jul;19(4):446-52. doi: 10.1016/j.ejpn.2015.02.007. Epub 2015 Mar 5. Eur J Paediatr Neurol. 2015. PMID: 25814391

3

Characterization of the Phenotype Associated with Microduplication Reciprocal to NF1 Microdeletion Syndrome.

Tassano E, Giacomini T, Severino M, Gamucci A, Fiorio P, Gimelli G, Ronchetto P. Tassano E, et al. Among authors: giacomini t. Cytogenet Genome Res. 2017;152(1):22-28. doi: 10.1159/000477292. Epub 2017 Jun 13. Cytogenet Genome Res. 2017. PMID: 28605748

4

3q29 microduplication syndrome: Description of two new cases and delineation of the minimal critical region.

Tassano E, Uccella S, Giacomini T, Severino M, Siri L, Gherzi M, Celle ME, Porta S, Gimelli G, Ronchetto P. Tassano E, et al. Among authors: giacomini t. Eur J Med Genet. 2018 Aug;61(8):428-433. doi: 10.1016/j.ejmg.2018.02.011. Epub 2018 Mar 1. Eur J Med Genet. 2018. PMID: 29501613

5

Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype.

Pisciotta L, Capra V, Accogli A, Giacomini T, Prato G, Tavares P, Pinto-Basto J, Morana G, Mancardi MM. Pisciotta L, et al. Among authors: giacomini t. Neuropediatrics. 2018 Jun;49(3):217-221. doi: 10.1055/s-0038-1639372. Epub 2018 Apr 9. Neuropediatrics. 2018. PMID: 29631299

6

ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum.

Bertamino M, Severino M, Grossi A, Rusmini M, Tortora D, Gandolfo C, Pederzoli S, Malattia C, Picco P, Striano P, Ceccherini I, Di Rocco M; Gaslini Pediatric Stroke Group. Bertamino M, et al. Eur J Paediatr Neurol. 2018 Jul;22(4):725-728. doi: 10.1016/j.ejpn.2018.04.002. Epub 2018 Apr 12. Eur J Paediatr Neurol. 2018. PMID: 29709427

7

Reversible cerebral vasoconstriction complicating cerebral atherosclerotic vascular disease in Schimke immuno-osseous dysplasia.

Severino M, Giacomini T, Verrina E, Prato G, Rossi A. Severino M, et al. Among authors: giacomini t. Neuroradiology. 2018 Sep;60(9):885-888. doi: 10.1007/s00234-018-2052-y. Epub 2018 Jul 6. Neuroradiology. 2018. PMID: 29978300 No abstract available.

8

Intragenic Microdeletion of ULK4 and Partial Microduplication of BRWD3 in Siblings with Neuropsychiatric Features and Obesity.

Tassano E, Uccella S, Giacomini T, Striano P, Severino M, Porta S, Gimelli G, Ronchetto P. Tassano E, et al. Among authors: giacomini t. Cytogenet Genome Res. 2018;156(1):14-21. doi: 10.1159/000491871. Epub 2018 Aug 8. Cytogenet Genome Res. 2018. PMID: 30086552 Review.

9

Clinical and Molecular Characterization of Two Patients with CNTN6 Copy Number Variations.

Tassano E, Uccella S, Giacomini T, Severino M, Fiorio P, Gimelli G, Ronchetto P. Tassano E, et al. Among authors: giacomini t. Cytogenet Genome Res. 2018;156(3):144-149. doi: 10.1159/000494152. Epub 2018 Dec 4. Cytogenet Genome Res. 2018. PMID: 30508811

10

Migrating focal seizures in Autosomal Dominant Sleep-related Hypermotor Epilepsy with KCNT1 mutation.

Cataldi M, Nobili L, Zara F, Combi R, Prato G, Giacomini T, Capra V, De Marco P, Ferini-Strambi L, Mancardi MM. Cataldi M, et al. Among authors: giacomini t. Seizure. 2019 Apr;67:57-60. doi: 10.1016/j.seizure.2019.02.019. Epub 2019 Mar 7. Seizure. 2019. PMID: 30903923 Free article. No abstract available.

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