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

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2003 1
2006 1
2008 1
2009 1
2010 2
2011 3
2012 6
2013 6
2014 7
2015 4
2016 5
2017 5
2018 2
2020 2
2021 3
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

45 results

Results by year

Filters applied: . Clear all
Page 1
Ketogenic dietary therapies in epilepsy: recommendations of the Italian League against Epilepsy Dietary Therapy Study Group.
De Giorgis V, Tagliabue A, Bisulli F, Brambilla I, Camerini A, Cusmai R, Darra F, Dianin A, Domenica E, Lodi MAM, Matricardi S, Messana T, Operto F, Ragona F, Russo E, Varesio C, Volpi L, Zanaboni MP, Pasca L, Veggiotti P. De Giorgis V, et al. Among authors: cusmai r. Front Neurol. 2023 Jul 10;14:1215618. doi: 10.3389/fneur.2023.1215618. eCollection 2023. Front Neurol. 2023. PMID: 37497012 Free PMC article.
Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in GPAA1.
Castle AMR, Salian S, Bassan H, Sofrin-Drucker E, Cusmai R, Herman KC, Heron D, Keren B, Johnstone DL, Mears W, Morlot S, Nguyen TTM, Rock R, Stolerman E, Russo J, Burns WB, Jones JR, Serpieri V, Wallaschek H, Zanni G, Dyment DA, Campeau PM. Castle AMR, et al. Among authors: cusmai r. Neurol Genet. 2021 Oct 21;7(6):e631. doi: 10.1212/NXG.0000000000000631. eCollection 2021 Dec. Neurol Genet. 2021. PMID: 34703884 Free PMC article.
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. Among authors: cusmai r. 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
The Ketogenic Diet Increases In Vivo Glutathione Levels in Patients with Epilepsy.
Napolitano A, Longo D, Lucignani M, Pasquini L, Rossi-Espagnet MC, Lucignani G, Maiorana A, Elia D, De Liso P, Dionisi-Vici C, Cusmai R. Napolitano A, et al. Among authors: cusmai r. Metabolites. 2020 Dec 10;10(12):504. doi: 10.3390/metabo10120504. Metabolites. 2020. PMID: 33321705 Free PMC article.
Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function.
Zilmer M, Edmondson AC, Khetarpal SA, Alesi V, Zaki MS, Rostasy K, Madsen CG, Lepri FR, Sinibaldi L, Cusmai R, Novelli A, Issa MY, Fenger CD, Abou Jamra R, Reutter H, Briuglia S, Agolini E, Hansen L, Petäjä-Repo UE, Hintze J, Raymond KM, Liedtke K, Stanley V, Musaev D, Gleeson JG, Vitali C, O'Brien WT, Gardella E, Rubboli G, Rader DJ, Schjoldager KT, Møller RS. Zilmer M, et al. Among authors: cusmai r. Brain. 2020 Apr 1;143(4):1114-1126. doi: 10.1093/brain/awaa063. Brain. 2020. PMID: 32293671 Free PMC article.
Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study.
Trivisano M, Pietrafusa N, Terracciano A, Marini C, Mei D, Darra F, Accorsi P, Battaglia D, Caffi L, Canevini MP, Cappelletti S, Cesaroni E, de Palma L, Costa P, Cusmai R, Giordano L, Ferrari A, Freri E, Fusco L, Granata T, Martino T, Mastrangelo M, Bova SM, Parmeggiani L, Ragona F, Sicca F, Striano P, Specchio LM, Tondo I, Zambrelli E, Zamponi N, Zanus C, Boniver C, Vecchi M, Avolio C, Dalla Bernardina B, Bertini E, Guerrini R, Vigevano F, Specchio N. Trivisano M, et al. Among authors: cusmai r. Epilepsia. 2018 Dec;59(12):2260-2271. doi: 10.1111/epi.14600. Epub 2018 Nov 19. Epilepsia. 2018. PMID: 30451291
ATP1A3-related epileptic encephalopathy responding to ketogenic diet.
Schirinzi T, Graziola F, Cusmai R, Fusco L, Nicita F, Elia M, Travaglini L, Bertini E, Curatolo P, Vigevano F, Capuano A. Schirinzi T, et al. Among authors: cusmai r. Brain Dev. 2018 May;40(5):433-438. doi: 10.1016/j.braindev.2018.01.002. Epub 2018 Feb 1. Brain Dev. 2018. PMID: 29395663
Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.
Romaniello R, Arrigoni F, Panzeri E, Poretti A, Micalizzi A, Citterio A, Bedeschi MF, Berardinelli A, Cusmai R, D'Arrigo S, Ferraris A, Hackenberg A, Kuechler A, Mancardi M, Nuovo S, Oehl-Jaschkowitz B, Rossi A, Signorini S, Tüttelmann F, Wahl D, Hehr U, Boltshauser E, Bassi MT, Valente EM, Borgatti R. Romaniello R, et al. Among authors: cusmai r. Eur Radiol. 2017 Dec;27(12):5093. doi: 10.1007/s00330-017-4986-6. Eur Radiol. 2017. PMID: 28900662 No abstract available.
Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.
Romaniello R, Arrigoni F, Panzeri E, Poretti A, Micalizzi A, Citterio A, Bedeschi MF, Berardinelli A, Cusmai R, D'Arrigo S, Ferraris A, Hackenberg A, Kuechler A, Mancardi M, Nuovo S, Oehl-Jaschkowitz B, Rossi A, Signorini S, Tüttelmann F, Wahl D, Hehr U, Boltshauser E, Bassi MT, Valente EM, Borgatti R. Romaniello R, et al. Among authors: cusmai r. Eur Radiol. 2017 Dec;27(12):5080-5092. doi: 10.1007/s00330-017-4945-2. Epub 2017 Jul 4. Eur Radiol. 2017. PMID: 28677066
45 results