Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

738 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review.
Garau J, Cavallera V, Valente M, Tonduti D, Sproviero D, Zucca S, Battaglia D, Battini R, Bertini E, Cappanera S, Chiapparini L, Crasà C, Crichiutti G, Dalla Giustina E, D'Arrigo S, De Giorgis V, De Simone M, Galli J, La Piana R, Messana T, Moroni I, Nardocci N, Panteghini C, Parazzini C, Pichiecchio A, Pini A, Ricci F, Saletti V, Salvatici E, Santorelli FM, Sartori S, Tinelli F, Uggetti C, Veneselli E, Zorzi G, Garavaglia B, Fazzi E, Orcesi S, Cereda C. Garau J, et al. Among authors: sartori s. J Clin Med. 2019 May 26;8(5):750. doi: 10.3390/jcm8050750. J Clin Med. 2019. PMID: 31130681 Free PMC article.
Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies.
Cassandrini D, Biancheri R, Tessa A, Di Rocco M, Di Capua M, Bruno C, Denora PS, Sartori S, Rossi A, Nozza P, Emma F, Mezzano P, Politi MR, Laverda AM, Zara F, Pavone L, Simonati A, Leuzzi V, Santorelli FM, Bertini E. Cassandrini D, et al. Among authors: sartori s. Neurology. 2010 Oct 19;75(16):1459-64. doi: 10.1212/WNL.0b013e3181f88173. Neurology. 2010. PMID: 20956791
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
Santorelli FM, Garavaglia B, Cardona F, Nardocci N, Bernardina BD, Sartori S, Suppiej A, Bertini E, Claps D, Battini R, Biancheri R, Filocamo M, Pezzini F, Simonati A. Santorelli FM, et al. Among authors: sartori s. Orphanet J Rare Dis. 2013 Feb 2;8:19. doi: 10.1186/1750-1172-8-19. Orphanet J Rare Dis. 2013. PMID: 23374165 Free PMC article.
White matter and cerebellar involvement in alternating hemiplegia of childhood.
Severino M, Pisciotta L, Tortora D, Toselli B, Stagnaro M, Cordani R, Morana G, Zicca A, Kotzeva S, Zanaboni C, Montobbio G, Rossi A, De Grandis E; IBAHC Consortium. Severino M, et al. J Neurol. 2020 May;267(5):1300-1311. doi: 10.1007/s00415-020-09698-3. Epub 2020 Jan 16. J Neurol. 2020. PMID: 31950366
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study.
Nuovo S, Micalizzi A, Romaniello R, Arrigoni F, Ginevrino M, Casella A, Serpieri V, D'Arrigo S, Briguglio M, Salerno GG, Rossato S, Sartori S, Leuzzi V, Battini R, Ben-Zeev B, Graziano C, Mirabelli Badenier M, Brankovic V, Nardocci N, Spiegel R, Petković Ramadža D, Vento G, Marti I, Simonati A, Dipresa S, Freri E, Mazza T, Bassi MT, Bosco L, Travaglini L, Zanni G, Bertini ES, Vanacore N, Borgatti R, Valente EM. Nuovo S, et al. Among authors: sartori s. J Med Genet. 2022 Apr;59(4):399-409. doi: 10.1136/jmedgenet-2020-107497. Epub 2021 Mar 5. J Med Genet. 2022. PMID: 34085948
An Italian consensus on the management of Lennox-Gastaut syndrome.
Riva A, Coppola A, Bonaventura CD, Elia M, Ferlazzo E, Gobbi G, Marini C, Meletti S, Romeo A, Santoro K, Verrotti A, Capovilla G, Striano P; Italian LGS Delphi Group. Riva A, et al. Seizure. 2022 Oct;101:134-140. doi: 10.1016/j.seizure.2022.07.004. Epub 2022 Jul 15. Seizure. 2022. PMID: 35981474 Free article.
Early Immunotherapy and Longer Corticosteroid Treatment Are Associated With Lower Risk of Relapsing Disease Course in Pediatric MOGAD.
Nosadini M, Eyre M, Giacomini T, Valeriani M, Della Corte M, Praticò AD, Annovazzi P, Cordani R, Cordelli DM, Crichiutti G, Di Rosa G, Dolcemascolo V, Fetta A, Freri E, Gallo P, Gastaldi M, Granata T, Grazian L, Iorio R, Lombardini M, Margoni M, Mariotto S, Matricardi S, Melani F, Nardocci N, Papetti L, Passarini A, Pisani F, Po' C, Puthenparampil M, Ragona F, Savasta S, Siliquini S, Toldo I, Tozzo A, Turco EC, Varone A, Vogrig A, Zuliani L, Bugin S, Rossato S, Orsini A, Cantalupo G, Mancardi MM, Ferilli MAN, Foiadelli T, Sartori S. Nosadini M, et al. Among authors: sartori s. Neurol Neuroimmunol Neuroinflamm. 2022 Nov 29;10(1):e200065. doi: 10.1212/NXI.0000000000200065. Print 2023 Jan. Neurol Neuroimmunol Neuroinflamm. 2022. PMID: 36446614 Free PMC article.
738 results