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Page 1
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy.
Mei D, Balestrini S, Parrini E, Gambardella A, Annesi G, De Giorgis V, Gana S, Bassi MT, Zucca C, Elia M, Vetri L, Castellotti B, Ragona F, Mastrangelo M, Pisani F, d'Orsi G, Carella M, Pruna D, Giglio S, Marini C, Cesaroni E, Riva A, Scala M, Licchetta L, Minardi R, Contaldo I, Gambardella ML, Cossu A, Proietti J, Cantalupo G; LICE Collaborative Group; Trivisano M, De Dominicis A, Specchio N, Tassi L, Guerrini R. Mei D, et al. J Med Genet. 2024 Dec 22:jmg-2024-110328. doi: 10.1136/jmg-2024-110328. Online ahead of print. J Med Genet. 2024. PMID: 39613335 Free article.
Bilateral Dentate Nuclei Hyperintensities and Response to 4-Aminopyridine in a Patient With Childhood-Onset GAA-FGF14-Related Ataxia.
Mitrotti P, Vegezzi E, Zangaglia R, Palmieri I, Dicaire MJ, Gana S, Aghdas SR, Nicolosi S, Pichiecchio A, Tassorelli C, Valente EM, Avenali M. Mitrotti P, et al. Among authors: valente em. Neurol Genet. 2024 Nov 1;10(6):e200208. doi: 10.1212/NXG.0000000000200208. eCollection 2024 Dec. Neurol Genet. 2024. PMID: 39512794 Free PMC article.
Genetic and Epidemiological Insights into RAB32-Linked Parkinson's Disease.
Radefeldt M, Lemke S, Chaichoompu K, Paul JJ, Curado F, Valzania F, Cavallieri F, Fioravanti V, Valente EM, Avenali M, Negrotti A, Hanagasi HA, Thonke S, Matarazzo M, Panzavolta A, Cerami C, Westenberger A, Klein C, Bauer P, Beetz C. Radefeldt M, et al. Among authors: valente em. Mov Disord. 2024 Oct 26. doi: 10.1002/mds.30041. Online ahead of print. Mov Disord. 2024. PMID: 39460989
CSF d18:1 sphingolipid species in Parkinson disease and dementia with Lewy bodies with and without GBA1 variants.
Lerche S, Wurster I, Valente EM, Avenali M, Samaniego D, Martínez-Vicente M, Hernández-Vara J, Laguna A, Sturchio A, Svenningsson P, France NP, Barlow C, Sankaranarayanan S, Brockmann K. Lerche S, et al. Among authors: valente em. NPJ Parkinsons Dis. 2024 Oct 24;10(1):198. doi: 10.1038/s41531-024-00820-0. NPJ Parkinsons Dis. 2024. PMID: 39448669 Free PMC article.
Neuroradiologic, Clinical, and Genetic Characterization of Cerebellar Heterotopia: A Pediatric Multicentric Study.
Pasca L, Arrigoni F, Romaniello R, Severino MS, Politano D, D'Abrusco F, Garau J, De Giorgis V, Carpani A, Signorini S, Orcesi S, D'Arco F, Alfei E, Cattaneo E, Rognone E, Uccella S, Divizia MT, Infantino P, Valente EM, Borgatti R, Pichiecchio A. Pasca L, et al. Among authors: valente em. AJNR Am J Neuroradiol. 2024 Dec 27. doi: 10.3174/ajnr.A8450. Online ahead of print. AJNR Am J Neuroradiol. 2024. PMID: 39406511
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome.
D'Abrusco F, Serpieri V, Taccagni CM, Garau J, Cattaneo L, Boggioni M, Gana S, Battini R, Bertini E, Zanni G, Boltshauser E, Borgatti R, Romaniello R, Signorini S, Leuzzi V, Caputi C, Manti F, D'Arrigo S, De Laurentiis A, Graziano C, Lemke JR, Morelli F, Petković Ramadža D, Sirchia F, Giorgio E, Valente EM. D'Abrusco F, et al. Among authors: valente em. Eur J Hum Genet. 2024 Oct 11. doi: 10.1038/s41431-024-01703-x. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39394465
RAB32 mutation in Parkinson's disease.
Monfrini E, Minardi R, Valzania F, Calandra-Buonaura G, Mandich P, Di Fonzo A; ParkNet Study Group. Monfrini E, et al. Lancet Neurol. 2024 Oct;23(10):961-962. doi: 10.1016/S1474-4422(24)00324-7. Lancet Neurol. 2024. PMID: 39304252 No abstract available.
Family History in Parkinson's Disease: A National Cross-Sectional Study.
Arienti F, Casazza G, Franco G, Lazzeri G, Monfrini E, Di Maio A, Erro R, Barone P, Tamma F, Caputo E, Volontè MA, Cacciaguerra L, Pilotto A, Padovani A, Comi C, Magistrelli L, Valzania F, Cavallieri F, Avanzino L, Marchese R, Sensi M, Carroli G, Eleopra R, Cilia R, Spagnolo F, Tessitore A, De Micco R, Ceravolo R, Palermo G, Malaguti MC, Lopiano L, Tocco P, Sorbera C, Tinazzi M, Ciammola A, Ottaviani D, Valente EM, Albanese A, Blandini F, Canesi M, Antonini A, Carecchio M, Fetoni V, Colosimo C, Volpe D, Tambasco N, Cossu G, Zappia M; Italian Study Group on Family History in PD; Di Fonzo A. Arienti F, et al. Among authors: valente em. Mov Disord Clin Pract. 2024 Nov;11(11):1434-1440. doi: 10.1002/mdc3.14206. Epub 2024 Sep 13. Mov Disord Clin Pract. 2024. PMID: 39269187 Free PMC article.
Genome-wide association study of copy number variations in Parkinson's disease.
Landoulsi Z, Sreelatha AAK, Schulte C, Bobbili DR, Montanucci L, Leu C, Niestroj LM, Hassanin E, Domenighetti C, Pavelka L, Sugier PE, Radivojkov-Blagojevic M, Lichtner P, Portugal B, Edsall C, Kru Ger J, Hernandez DG, Blauwendraat C, Mellick GD, Zimprich A, Pirker W, Tan M, Rogaeva E, Lang AE, Koks S, Taba P, Lesage S, Brice A, Corvol JC, Chartier-Harlin MC, Mutez E, Brockmann K, Deutschländer AB, Hadjigeorgiou GM, Dardiotis E, Stefanis L, Simitsi AM, Valente EM, Petrucci S, Straniero L, Zecchinelli A, Pezzoli G, Brighina L, Ferrarese C, Annesi G, Quattrone A, Gagliardi M, Burbulla LF, Matsuo H, Nakayama A, Hattori N, Nishioka K, Chung SJ, Kim YJ, Kolber P, van de Warrenburg BP, Bloem BR, Singleton AB, Toft M, Pihlstrom L, Guedes LC, Ferreira JJ, Bardien S, Carr J, Tolosa E, Ezquerra M, Pastor P, Wirdefeldt K, Pedersen NL, Ran C, Belin AC, Puschmann A, Clarke CE, Morrison KE, Krainc D, Farrer MJ, Lal D, Elbaz A, Gasser T, Krüger R, Sharma M, May P. Landoulsi Z, et al. Among authors: valente em. medRxiv [Preprint]. 2024 Aug 22:2024.08.21.24311915. doi: 10.1101/2024.08.21.24311915. medRxiv. 2024. PMID: 39228715 Free PMC article. Preprint.
378 results