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Page 1
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: gellera c. Epilepsia. 2023 Dec;64(12):e222-e228. doi: 10.1111/epi.17777. Epub 2023 Oct 7. Epilepsia. 2023. PMID: 37746765
Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypes.
Castellotti B, Canafoglia L, Freri E, Tappatà M, Messina G, Magri S, DiFrancesco JC, Fanella M, Di Bonaventura C, Morano A, Granata T, Gellera C, Franceschetti S, Michelucci R. Castellotti B, et al. Among authors: gellera c. Epilepsia Open. 2023 Jun;8(2):645-650. doi: 10.1002/epi4.12697. Epub 2023 Feb 9. Epilepsia Open. 2023. PMID: 36719163 Free PMC article.
Case report: Marked electroclinical improvement by fluoxetine treatment in a patient with KCNT1-related drug-resistant focal epilepsy.
Mosca I, Freri E, Ambrosino P, Belperio G, Granata T, Canafoglia L, Ragona F, Solazzi R, Filareto I, Castellotti B, Messina G, Gellera C, DiFrancesco JC, Soldovieri MV, Taglialatela M. Mosca I, et al. Among authors: gellera c. Front Cell Neurosci. 2024 Apr 4;18:1367838. doi: 10.3389/fncel.2024.1367838. eCollection 2024. Front Cell Neurosci. 2024. PMID: 38644974 Free PMC article.
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.
Fogh I, Ratti A, Gellera C, Lin K, Tiloca C, Moskvina V, Corrado L, Sorarù G, Cereda C, Corti S, Gentilini D, Calini D, Castellotti B, Mazzini L, Querin G, Gagliardi S, Del Bo R, Conforti FL, Siciliano G, Inghilleri M, Saccà F, Bongioanni P, Penco S, Corbo M, Sorbi S, Filosto M, Ferlini A, Di Blasio AM, Signorini S, Shatunov A, Jones A, Shaw PJ, Morrison KE, Farmer AE, Van Damme P, Robberecht W, Chiò A, Traynor BJ, Sendtner M, Melki J, Meininger V, Hardiman O, Andersen PM, Leigh NP, Glass JD, Overste D, Diekstra FP, Veldink JH, van Es MA, Shaw CE, Weale ME, Lewis CM, Williams J, Brown RH, Landers JE, Ticozzi N, Ceroni M, Pegoraro E, Comi GP, D'Alfonso S, van den Berg LH, Taroni F, Al-Chalabi A, Powell J, Silani V; SLAGEN Consortium and Collaborators. Fogh I, et al. Among authors: gellera c. Hum Mol Genet. 2014 Apr 15;23(8):2220-31. doi: 10.1093/hmg/ddt587. Epub 2013 Nov 20. Hum Mol Genet. 2014. PMID: 24256812 Free PMC article.
Analysis of miRNA rare variants in amyotrophic lateral sclerosis and in silico prediction of their biological effects.
Brusati A, Ratti A, Pensato V, Peverelli S, Gentilini D, Dalla Bella E, Sorce MN, Meneri M, Gagliardi D, Corti S, Gellera C, Lauria Pinter G, Ticozzi N, Silani V. Brusati A, et al. Among authors: gellera c. Front Genet. 2022 Dec 7;13:1055313. doi: 10.3389/fgene.2022.1055313. eCollection 2022. Front Genet. 2022. PMID: 36568378 Free PMC article.
Preliminary insights into RNA in CSF of pediatric SMA patients after 6 months of nusinersen.
Garofalo M, Bonanno S, Marcuzzo S, Pandini C, Scarian E, Dragoni F, Di Gerlando R, Bordoni M, Parravicini S, Gellera C, Masson R, Dosi C, Zanin R, Pansarasa O, Cereda C, Berardinelli A, Gagliardi S. Garofalo M, et al. Among authors: gellera c. Biol Direct. 2023 Sep 13;18(1):57. doi: 10.1186/s13062-023-00413-6. Biol Direct. 2023. PMID: 37705059 Free PMC article.
Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset.
Porcu L, Fichera M, Nanetti L, Rulli E, Giunti P, Parkinson MH, Durr A, Ewenczyk C, Boesch S, Nachbauer W, Indelicato E, Klopstock T, Stendel C, Rodríguez de Rivera FJ, Schöls L, Fleszar Z, Giordano I, Didszun C, Castaldo A, Rai M, Klockgether T, Pandolfo M, Schulz JB, Reetz K, Mariotti C; EFACTS Study Group. Porcu L, et al. Ann Clin Transl Neurol. 2023 Nov;10(11):2000-2012. doi: 10.1002/acn3.51886. Epub 2023 Aug 28. Ann Clin Transl Neurol. 2023. PMID: 37641437 Free PMC article.
A novel KCNC1 gain-of-function variant causing developmental and epileptic encephalopathy: "Precision medicine" approach with fluoxetine.
Ambrosino P, Ragona F, Mosca I, Vannicola C, Canafoglia L, Solazzi R, Rivolta I, Freri E, Granata T, Messina G, Castellotti B, Gellera C, Soldovieri MV, DiFrancesco JC, Taglialatela M. Ambrosino P, et al. Among authors: gellera c. Epilepsia. 2023 Jul;64(7):e148-e155. doi: 10.1111/epi.17656. Epub 2023 Jun 2. Epilepsia. 2023. PMID: 37203213
Adult-onset leukodystrophy with vanishing white matter: a case series of 19 patients.
Benzoni C, Moscatelli M, Farina L, Magri S, Ciano C, Scaioli V, Alverà S, Cammarata G, Bianchi-Marzoli S, Castellani M, Zito FM, Marotta G, Piacentini S, Villacara A, Mantegazza R, Gellera C, Durães J, Gouveia A, Matos A, do Carmo Macário M, Pareyson D, Taroni F, Di Bella D, Salsano E. Benzoni C, et al. Among authors: gellera c. J Neurol. 2023 Sep;270(9):4219-4234. doi: 10.1007/s00415-023-11762-7. Epub 2023 May 12. J Neurol. 2023. PMID: 37171481
222 results