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Year Number of Results
2009 1
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73 results

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Page 1
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia.
Invernizzi F, Izzo R, Colangelo I, Legati A, Zanetti N, Garavaglia B, Lamantea E, Peverelli L, Ardissone A, Moroni I, Maggi L, Bonanno S, Fiori L, Velardo D, Magri F, Comi GP, Ronchi D, Ghezzi D, Lamperti C. Invernizzi F, et al. Among authors: ardissone a. Genes (Basel). 2023 Jul 2;14(7):1393. doi: 10.3390/genes14071393. Genes (Basel). 2023. PMID: 37510298 Free PMC article.
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
Tatton-Brown K, Loveday C, Yost S, Clarke M, Ramsay E, Zachariou A, Elliott A, Wylie H, Ardissone A, Rittinger O, Stewart F, Temple IK, Cole T; Childhood Overgrowth Collaboration; Mahamdallie S, Seal S, Ruark E, Rahman N. Tatton-Brown K, et al. Among authors: ardissone a. Am J Hum Genet. 2017 May 4;100(5):725-736. doi: 10.1016/j.ajhg.2017.03.010. Am J Hum Genet. 2017. PMID: 28475857 Free PMC article.
Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group.
Mancuso M, Papadopoulou MT, Ng YS, Ardissone A, Bellusci M, Bertini E, Di Vito L, Evangelista T, Fons C, Hikmat O, Horvath R, Klopstock T, Kornblum C, Lamperti C, Licchetta L, Molnar MJ, Varhaug KN, O'Callaghan M, Pressler RM, Schiff M, Servidei S, Szabo N, Gorman GS, Cross JH, Rahman S. Mancuso M, et al. Among authors: ardissone a. Eur J Neurol. 2024 Jul;31(7):e16275. doi: 10.1111/ene.16275. Epub 2024 Apr 4. Eur J Neurol. 2024. PMID: 38576261 Free PMC article.
Natural history of Becker muscular dystrophy: DMD gene mutations predict clinical severity.
Gorgoglione D, Sabbatini D, Riguzzi P, Capece G, Pane M, Servidei S, Briganti M, Sancricca C, Bruschi F, Ardissone A, Masson R, Gallone A, Maggi L, Picillo E, Politano L, Petrosino A, Vianello S, Penzo M, Villa M, Sframeli M, Allegra C, Barp A, Di Bari A, Salmin F, Albamonte E, Colacicco G, Panicucci C, Traverso M, Palermo C, Lerario A, Velardo D, D'Angelo MG, Berardinelli A, Gardani A, Nicotra R, Parravicini S, Siciliano G, Ricci G, Torri F, Gadaleta G, Urbano G, Rolle E, Ricci F, D'Amico A, Catteruccia M, Pini A, Giannotta M, Battini R, Marinella G, Previtali SC, Zambon AA, Ferlini A, Fortunato F, Magri F, Mongini TE, Sansone VA, Bruno C, Messina S, Nigro V, Moroni I, Mercuri E, Bello L, Pegoraro E. Gorgoglione D, et al. Among authors: ardissone a. Brain. 2025 May 13;148(5):1695-1706. doi: 10.1093/brain/awae358. Brain. 2025. PMID: 39499670
Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8.
Carli S, Levarlet A, Diodato D, Bertini ES, Martinelli D, Malandrini A, Lopergolo D, Gallus GN, Ganetzky RD, La Morgia C, Carelli V, Primiano G, Domínguez-González C, Serrano-Lorenzo P, Martín MA, Ardissone A, Lamperti C, Nicoletta V, Klopstock T, Distelmaier F, Zeng L, Büchner B, Mancuso M, Schuelke M, Prigione A, Garone C. Carli S, et al. Among authors: ardissone a. Neurology. 2025 Apr;104(7):e213462. doi: 10.1212/WNL.0000000000213462. Epub 2025 Mar 20. Neurology. 2025. PMID: 40112238 Free PMC article.
Arginase 1 deficiency: a treatable form of spastic paraplegia.
Burlina A, Ardissone A, Battini R, Burlina A, Gasperini S, Pession A, Porta F, Vici CD. Burlina A, et al. Among authors: ardissone a. Neurol Sci. 2025 Sep;46(9):4219-4228. doi: 10.1007/s10072-025-08153-3. Epub 2025 Apr 16. Neurol Sci. 2025. PMID: 40237972 Free PMC article. Review.
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Merkevicius K, Smirnov D, Schlieben LD, Ganetzky R, Feichtinger RG, Jiang H, Fang F, Ebihara T, Murayama K, Ferrera G, Ardissone A, Rokicki D, Wesol-Kucharska D, Schröder S, Bauer P, Bertoli-Avella A, Østergaard E, Freisinger P, Janssen MCH, Wagner M, Abouyousef O, Alhaddad B, AlAbdi L, Alkuraya F, Alston CL, Baghdasaryan A, Barca D, Barić I, Bellusci M, Bevot A, Boltshauser E, Borggraefe I, Bouchereau J, Bruno C, Burnyte B, Calhoun A, Casas K, Coker M, Crushell E, De Lonlay P, Dionisi-Vici C, Distelmaier F, Falk MJ, Ferreira AC, Ferreira CR, Ficicioglu C, Fatma Gokçay G, Häberle J, Heath O, Hellenschmidt A, Hoefele J, Hoffmann GF, Honzik T, Huemer M, Janeiro P, Karaa A, Seher Kasapkara Ç, Kern I, Klepper J, Klopstock T, Knerr I, Koch J, Krumina Z, Lamperti C, Lebigot E, Liu Z, Maier EM, Martinelli D, McFarland R, Mendelsohn B, Molnar MJ, Mundy H, Nassogne MC, Oliveira A, Õunap K, Panicucci C, Parikh S, Peters H, Pichard S, Plecko B, Ramadža DP, Repetto GM, Rivera I, Rodenburg RJ, Rossi A, Schiff M, Seidemann K, Smith WE, Soares S, Siri B, Steinbrucker K, Striano P, Sykut-Cegielska J, Tal G, Taylor RW, Tsiakas K, Kalkan Ucar S, van Konijnenburg EH, Woidy M, Yaplito-Lee J, Y… See abstract for full author list ➔ Merkevicius K, et al. Among authors: ardissone a. Brain. 2025 Nov 14:awaf430. doi: 10.1093/brain/awaf430. Online ahead of print. Brain. 2025. PMID: 41239557
Open-label evaluation of oral trehalose in patients with neuronal ceroid lipofuscinoses.
Della Vecchia S, Gammaldi N, Ricca I, Mero S, Doccini S, Ardissone A, Bagnoli S, Battini R, Colombi E, Favaro J, Furlan R, Giordano L, Ingannato A, Mandelli A, Manzoni FMP, Milito G, Moroni I, Nacmias B, Nardocci N, Parmeggiani L, Pezzini F, Pietrafusa N, Sartori S, Specchio N, Trivisano M, Ets ACL, Simonati A, Santorelli FM; A-NCL ETS Group. Della Vecchia S, et al. Among authors: ardissone a. J Neurol. 2025 Jan 7;272(1):94. doi: 10.1007/s00415-024-12790-7. J Neurol. 2025. PMID: 39775944
73 results