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229 results

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Page 1
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.
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.
Six-minute walk test as outcome measure of fatigability in adults with spinal muscular atrophy treated with nusinersen.
Govoni A, Ricci G, Bonanno S, Bello L, Magri F, Meneri M, Torri F, Caponnetto C, Passamano L, Grandis M, Trojsi F, Cerri F, Gadaleta G, Capece G, Caumo L, Tanel R, Saccani E, Vacchiano V, Sorarù G, D'Errico E, Tramacere I, Bortolani S, Rolle E, Gellera C, Zanin R, Silvestrini M, Politano L, Schenone A, Previtali SC, Berardinelli A, Turri M, Verriello L, Coccia M, Mantegazza R, Liguori R, Filosto M, Maioli MA, Simone IL, Mongini T, Corti S, Manca ML, Pegoraro E, Siciliano G, Comi GP, Maggi L. Govoni A, et al. Among authors: gellera c. Muscle Nerve. 2024 Oct;70(4):816-823. doi: 10.1002/mus.28225. Epub 2024 Aug 2. Muscle Nerve. 2024. PMID: 39096012
Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data.
Saez-Atienzar S, Souza CDS, Chia R, Beal SN, Lorenzini I, Huang R, Levy J, Burciu C, Ding J, Gibbs JR, Jones A, Dewan R, Pensato V, Peverelli S, Corrado L, van Vugt JJFA, van Rheenen W, Tunca C, Bayraktar E, Xia M; International ALS Genomics Consortium; ITALSGEN Consortium; SLAGEN Consortium; Project MinE ALS Sequencing Consortium; Iacoangeli A, Shatunov A, Tiloca C, Ticozzi N, Verde F, Mazzini L, Kenna K, Al Khleifat A, Opie-Martin S, Raggi F, Filosto M, Piccinelli SC, Padovani A, Gagliardi S, Inghilleri M, Ferlini A, Vasta R, Calvo A, Moglia C, Canosa A, Manera U, Grassano M, Mandrioli J, Mora G, Lunetta C, Tanel R, Trojsi F, Cardinali P, Gallone S, Brunetti M, Galimberti D, Serpente M, Fenoglio C, Scarpini E, Comi GP, Corti S, Del Bo R, Ceroni M, Pinter GL, Taroni F, Bella ED, Bersano E, Curtis CJ, Lee SH, Chung R, Patel H, Morrison KE, Cooper-Knock J, Shaw PJ, Breen G, Dobson RJB, Dalgard CL; American Genome Center; Scholz SW, Al-Chalabi A, van den Berg LH, McLaughlin R, Hardiman O, Cereda C, Sorarù G, D'Alfonso S, Chandran S, Pal S, Ratti A, Gellera C, Johnson K, Doucet-O'Hare T, Pasternack N, Wang T, Nath A, Siciliano G, Silani V, Başak AN, Veldink JH, Camu W, Glass J… See abstract for full author list ➔ Saez-Atienzar S, et al. Among authors: gellera c. Cell Genom. 2024 Nov 13;4(11):100679. doi: 10.1016/j.xgen.2024.100679. Epub 2024 Oct 21. Cell Genom. 2024. PMID: 39437787 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.
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.
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.
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
CLN6-related continuum phenotype caused by aberrant splicing.
Invernizzi F, Castellotti B, Reale C, Panteghini C, Colangelo I, Solazzi R, Ragona F, Giordano L, Galli J, Rossi Sebastiano D, Marucci G, Cuccarini V, Didato G, Gellera C, Garavaglia B, Granata T, Canafoglia L. Invernizzi F, et al. Among authors: gellera c. Epilepsia Open. 2024 Dec 24. doi: 10.1002/epi4.13119. Online ahead of print. Epilepsia Open. 2024. PMID: 39718800 Free article.
229 results