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

Year Number of Results
1988 1
1992 2
1993 1
1994 2
1995 2
1996 1
1997 5
1998 1
1999 9
2000 1
2001 5
2002 7
2003 4
2004 4
2005 4
2006 13
2007 5
2008 8
2009 8
2010 12
2011 10
2012 7
2013 9
2014 14
2015 13
2016 9
2017 9
2018 7
2019 17
2020 16
2021 16
2022 20
2023 18
2024 7

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232 results

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Page 1
Corrigendum: Newborn screening for X-linked adrenoleukodystrophy in Italy: diagnostic algorithm and disease monitoring.
Bonaventura E, Alberti L, Lucchi S, Cappelletti L, Fazzone S, Cattaneo E, Bellini M, Izzo G, Parazzini C, Bosetti A, Di Profio E, Fiore G, Ferrario M, Mameli C, Sangiorgio A, Masnada S, Zuccotti GV, Veggiotti P, Spaccini L, Iascone M, Verduci E, Cereda C, Tonduti D; XALD-NBS Study Group. Bonaventura E, et al. Among authors: veggiotti p. Front Neurol. 2024 Mar 6;15:1376447. doi: 10.3389/fneur.2024.1376447. eCollection 2024. Front Neurol. 2024. PMID: 38510379 Free PMC article.
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.
Cavirani B, Spagnoli C, Caraffi SG, Cavalli A, Cesaroni CA, Cutillo G, De Giorgis V, Frattini D, Marchetti GB, Masnada S, Peron A, Rizzi S, Varesio C, Spaccini L, Vignoli A, Canevini MP, Veggiotti P, Garavelli L, Fusco C. Cavirani B, et al. Among authors: veggiotti p. Int J Mol Sci. 2024 Jan 19;25(2):1248. doi: 10.3390/ijms25021248. Int J Mol Sci. 2024. PMID: 38279250 Free PMC article.
Role of Daytime Continuous Polysomnography in the Diagnosis of Pediatric Narcolepsy Type 1.
Pizza F, Vignatelli L, Vandi S, Zenesini C, Biscarini F, Franceschini C, Antelmi E, Ingravallo F, Mignot E, Bruni O, Nobili L, Veggiotti P, Ferri R, Plazzi G. Pizza F, et al. Among authors: veggiotti p. Neurology. 2024 Jan 9;102(1):e207815. doi: 10.1212/WNL.0000000000207815. Epub 2023 Dec 14. Neurology. 2024. PMID: 38165365 Free PMC article.
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Calì E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, Taylor JC, Oprea G, Skrahina V, Rehman KU, Abd Elmaksoud M, Bassiony M, El Said HG, Abdel-Hamid MS, Al Shalan M, Seo G, Kim S, Lee H, Khang R, Issa MY, Elbendary HM, Rafat K, Marinakis NM, Traeger-Synodinos J, Ververi A, Sourmpi M, Eslahi A, Khadivi Zand F, Beiraghi Toosi M, Babaei M, Jackson A; SYNAPS Study Group; Bertoli-Avella A, Pagnamenta AT, Niceta M, Battini R, Corsello A, Leoni C, Chiarelli F, Dallapiccola B, Faqeih EA, Tallur KK, Alfadhel M, Alobeid E, Maddirevula S, Mankad K, Banka S, Ghayoor-Karimiani E, Tartaglia M, Chung WK, Green R, Alkuraya FS, Jepson JEC, Houlden H. Salpietro V, et al. Am J Hum Genet. 2024 Jan 4;111(1):200-210. doi: 10.1016/j.ajhg.2023.11.012. Epub 2023 Dec 20. Am J Hum Genet. 2024. PMID: 38118446 Free PMC article.
Corticosteroids versus clobazam for treatment of children with epileptic encephalopathy with spike-wave activation in sleep (RESCUE ESES): a multicentre randomised controlled trial.
van Arnhem MML, van den Munckhof B, Arzimanoglou A, Perucca E, Metsähonkala L, Rubboli G, Søndergaard Khinchi M, de Saint-Martin A, Klotz KA, Jacobs J, Cross JH, Garcia Morales I, Otte WM, van Teeseling HC, Leijten FSS, Braun KPJ, Jansen FE; RESCUE ESES study group. van Arnhem MML, et al. Lancet Neurol. 2024 Feb;23(2):147-156. doi: 10.1016/S1474-4422(23)00409-X. Epub 2023 Dec 8. Lancet Neurol. 2024. PMID: 38081201 Clinical Trial.
Electroclinical features and phenotypic differences in adenylosuccinate lyase deficiency: Long-term follow-up of seven patients from four families and appraisal of the literature.
Cutillo G, Masnada S, Lesca G, Ville D, Accorsi P, Giordano L, Pichiecchio A, Valente M, Borrelli P, Ferraro OE, Veggiotti P. Cutillo G, et al. Among authors: veggiotti p. Epilepsia Open. 2024 Feb;9(1):106-121. doi: 10.1002/epi4.12837. Epub 2023 Nov 27. Epilepsia Open. 2024. PMID: 37842880 Free PMC article.
A novel de novo HCN2 loss-of-function variant causing developmental and epileptic encephalopathy treated with a ketogenic diet.
DiFrancesco JC, Ragona F, Murano C, Frosio A, Melgari D, Binda A, Calamaio S, Prevostini R, Mauri M, Canafoglia L, Castellotti B, Messina G, Gellera C, Previtali R, Veggiotti P, Milanesi R, Barbuti A, Solazzi R, Freri E, Granata T, Rivolta I. DiFrancesco JC, et al. Among authors: veggiotti p. Epilepsia. 2023 Dec;64(12):e222-e228. doi: 10.1111/epi.17777. Epub 2023 Oct 7. Epilepsia. 2023. PMID: 37746765
Ketonemia variability through menstrual cycle in patients undergoing classic ketogenic diet.
Pasca L, Ferraris C, Guglielmetti M, Varesio C, Totaro M, Trentani C, Marazzi C, Brambilla I, Ballante E, Armeno M, Valenzuela GR, Caraballo RH, Veggiotti P, Tagliabue A, De Giorgis V. Pasca L, et al. Among authors: veggiotti p. Front Nutr. 2023 Jul 27;10:1188055. doi: 10.3389/fnut.2023.1188055. eCollection 2023. Front Nutr. 2023. PMID: 37575326 Free PMC article.
232 results