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Year Number of Results
2000 1
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2003 12
2004 8
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2007 8
2008 6
2009 5
2010 3
2011 7
2012 14
2013 18
2014 17
2015 14
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2017 11
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2020 29
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2023 25
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280 results

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Page 1
A Comprehensive Update on Late-Onset Pompe Disease.
Labella B, Cotti Piccinelli S, Risi B, Caria F, Damioli S, Bertella E, Poli L, Padovani A, Filosto M. Labella B, et al. Among authors: filosto m. Biomolecules. 2023 Aug 22;13(9):1279. doi: 10.3390/biom13091279. Biomolecules. 2023. PMID: 37759679 Free PMC article. Review.
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium; Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium; Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium; Gitler AD, Harris T, Myers RM; NYGC ALS Consortium; Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation; Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium; Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium; Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium; Corcia P, Laaks… See abstract for full author list ➔ Nicolas A, et al. Neuron. 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027. Neuron. 2018. PMID: 29566793 Free PMC article.
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.
van Rheenen W, van der Spek RAA, Bakker MK, van Vugt JJFA, Hop PJ, Zwamborn RAJ, de Klein N, Westra HJ, Bakker OB, Deelen P, Shireby G, Hannon E, Moisse M, Baird D, Restuadi R, Dolzhenko E, Dekker AM, Gawor K, Westeneng HJ, Tazelaar GHP, van Eijk KR, Kooyman M, Byrne RP, Doherty M, Heverin M, Al Khleifat A, Iacoangeli A, Shatunov A, Ticozzi N, Cooper-Knock J, Smith BN, Gromicho M, Chandran S, Pal S, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Sendtner M, Meyer T, Başak N, van der Kooi AJ, Ratti A, Fogh I, Gellera C, Lauria G, Corti S, Cereda C, Sproviero D, D'Alfonso S, Sorarù G, Siciliano G, Filosto M, Padovani A, Chiò A, Calvo A, Moglia C, Brunetti M, Canosa A, Grassano M, Beghi E, Pupillo E, Logroscino G, Nefussy B, Osmanovic A, Nordin A, Lerner Y, Zabari M, Gotkine M, Baloh RH, Bell S, Vourc'h P, Corcia P, Couratier P, Millecamps S, Meininger V, Salachas F, Mora Pardina JS, Assialioui A, Rojas-García R, Dion PA, Ross JP, Ludolph AC, Weishaupt JH, Brenner D, Freischmidt A, Bensimon G, Brice A, Durr A, Payan CAM, Saker-Delye S, Wood NW, Topp S, Rademakers R, Tittmann L, Lieb W, Franke A, Ripke S, Braun A, Kraft J, Whiteman DC, Olsen CM, Uitterlinden AG, Hofman A, Rietschel … See abstract for full author list ➔ van Rheenen W, et al. Among authors: filosto m. Nat Genet. 2021 Dec;53(12):1636-1648. doi: 10.1038/s41588-021-00973-1. Epub 2021 Dec 6. Nat Genet. 2021. PMID: 34873335 Free PMC article.
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network.
Hirano M, Carelli V, De Giorgio R, Pironi L, Accarino A, Cenacchi G, D'Alessandro R, Filosto M, Martí R, Nonino F, Pinna AD, Baldin E, Bax BE, Bolletta A, Bolletta R, Boschetti E, Cescon M, D'Angelo R, Dotti MT, Giordano C, Gramegna LL, Levene M, Lodi R, Mandel H, Morelli MC, Musumeci O, Pugliese A, Scarpelli M, Siniscalchi A, Spinazzola A, Tal G, Torres-Torronteras J, Vignatelli L, Zaidman I, Zoller H, Rinaldi R, Zeviani M. Hirano M, et al. Among authors: filosto m. J Inherit Metab Dis. 2021 Mar;44(2):376-387. doi: 10.1002/jimd.12300. Epub 2020 Sep 8. J Inherit Metab Dis. 2021. PMID: 32898308 Free PMC article. Review.
Atypical CIDP: diagnostic criteria, progression and treatment response. Data from the Italian CIDP Database.
Doneddu PE, Cocito D, Manganelli F, Fazio R, Briani C, Filosto M, Benedetti L, Mazzeo A, Marfia GA, Cortese A, Fierro B, Jann S, Beghi E, Clerici AM, Carpo M, Schenone A, Luigetti M, Lauria G, Antonini G, Rosso T, Siciliano G, Cavaletti G, Liberatore G, Santoro L, Peci E, Tronci S, Ruiz M, Cotti Piccinelli S, Toscano A, Mataluni G, Piccolo L, Cosentino G, Sabatelli M, Nobile-Orazio E; Italian CIDP Database study group. Doneddu PE, et al. Among authors: filosto m. J Neurol Neurosurg Psychiatry. 2019 Feb;90(2):125-132. doi: 10.1136/jnnp-2018-318714. Epub 2018 Oct 8. J Neurol Neurosurg Psychiatry. 2019. PMID: 30297520 Free article.
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: filosto m. 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.
Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants.
Dardis A, Zampieri S, Gellera C, Carrozzo R, Cattarossi S, Peruzzo P, Dariol R, Sechi A, Deodato F, Caccia C, Verrigni D, Gasperini S, Fiumara A, Fecarotta S, Carecchio M, Filosto M, Santoro L, Borroni B, Bordugo A, Brancati F, Russo CV, Di Rocco M, Toscano A, Scarpa M, Bembi B. Dardis A, et al. Among authors: filosto m. J Clin Med. 2020 Mar 3;9(3):679. doi: 10.3390/jcm9030679. J Clin Med. 2020. PMID: 32138288 Free PMC article.
Long-term treatment of SOD1 ALS with tofersen: a multicentre experience in 17 patients.
Sabatelli M, Cerri F, Zuccarino R, Patanella AK, Bernardo D, Bisogni G, Tanel R, Sansone V, Filosto M, Lattante S, Martello F, Doronzio PN, Stano S, Zanfini BA, Coccia M, Costantini EM, Lizio A, Lucioli G, Padovani A, Merlini GP, Conte A. Sabatelli M, et al. Among authors: filosto m. J Neurol. 2024 Aug;271(8):5177-5186. doi: 10.1007/s00415-024-12437-7. Epub 2024 Jun 3. J Neurol. 2024. PMID: 38829431
Unclassified clinical presentations of chronic inflammatory demyelinating polyradiculoneuropathy.
Doneddu PE, Akyil H, Manganelli F, Briani C, Cocito D, Benedetti L, Mazzeo A, Fazio R, Filosto M, Cosentino G, Di Stefano V, Antonini G, Marfia GA, Inghilleri M, Siciliano G, Clerici AM, Carpo M, Schenone A, Luigetti M, Lauria G, Matà S, Rosso T, Minicuci GM, Lucchetta M, Cavaletti G, Liberatore G, Spina E, Campagnolo M, Peci E, Germano F, Gentile L, Strano C, Cotti Piccinelli S, Vegezzi E, Leonardi L, Mataluni G, Ceccanti M, Schirinzi E, Romozzi M, Nobile-Orazio E; Italian CIDP Database study group. Doneddu PE, et al. Among authors: filosto m. J Neurol Neurosurg Psychiatry. 2023 Aug;94(8):614-621. doi: 10.1136/jnnp-2022-331011. Epub 2023 Apr 4. J Neurol Neurosurg Psychiatry. 2023. PMID: 37015771 Free article.
280 results