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2006 2
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2010 5
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2013 10
2014 7
2015 14
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2019 12
2020 10
2021 10
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2023 13
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121 results

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Page 1
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… See abstract for full author list ➔ Nicolas A, et al. Among authors: soraru g. 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: soraru g. 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.
Effect of RNS60 in amyotrophic lateral sclerosis: a phase II multicentre, randomized, double-blind, placebo-controlled trial.
Beghi E, Pupillo E, Bianchi E, Bonetto V, Luotti S, Pasetto L, Bendotti C, Tortarolo M, Sironi F, Camporeale L, Sherman AV, Paganoni S, Scognamiglio A, De Marchi F, Bongioanni P, Del Carratore R, Caponnetto C, Diamanti L, Martinelli D, Calvo A, Filosto M, Padovani A, Piccinelli SC, Ricci C, Dalla Giacoma S, De Angelis N, Inghilleri M, Spataro R, La Bella V, Logroscino G, Lunetta C, Tarlarini C, Mandrioli J, Martinelli I, Simonini C, Zucchi E, Monsurrò MR, Ricciardi D, Trojsi F, Riva N, Filippi M, Simone IL, Sorarù G, Spera C, Florio L, Messina S, Russo M, Siciliano G, Conte A, Saddi MV, Carboni N, Mazzini L; RNS60-ALS Study Group. Beghi E, et al. Among authors: soraru g. Eur J Neurol. 2023 Jan;30(1):69-86. doi: 10.1111/ene.15573. Epub 2022 Oct 7. Eur J Neurol. 2023. PMID: 36148821 Free PMC article. Clinical Trial.
Randomized, double-blind, placebo-controlled trial of rapamycin in amyotrophic lateral sclerosis.
Mandrioli J, D'Amico R, Zucchi E, De Biasi S, Banchelli F, Martinelli I, Simonini C, Lo Tartaro D, Vicini R, Fini N, Gianferrari G, Pinti M, Lunetta C, Gerardi F, Tarlarini C, Mazzini L, De Marchi F, Scognamiglio A, Sorarù G, Fortuna A, Lauria G, Bella ED, Caponnetto C, Meo G, Chio A, Calvo A, Cossarizza A. Mandrioli J, et al. Among authors: soraru g. Nat Commun. 2023 Aug 17;14(1):4970. doi: 10.1038/s41467-023-40734-8. Nat Commun. 2023. PMID: 37591957 Free PMC article. Clinical Trial.
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, Alahmady N, Renton AE, Topp SD, Gibbs JR, Cookson MR, Sabir MS, Dalgard CL, Troakes C, Jones AR, Shatunov A, Iacoangeli A, Al Khleifat A, Ticozzi N, Silani V, Gellera C, Blair IP, Dobson-Stone C, Kwok JB, Bonkowski ES, Palvadeau R, Tienari PJ, Morrison KE, Shaw PJ, Al-Chalabi A, Brown RH Jr, Calvo A, Mora G, Al-Saif H, Gotkine M, Leigh F, Chang IJ, Perlman SJ, Glass I, Scott AI, Shaw CE, Basak AN, Landers JE, Chiò A, Crawford TO, Smith BN, Traynor BJ; FALS Sequencing Consortium; American Genome Center; International ALS Genomics Consortium; and ITALSGEN Consortium; Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp SD, Scotter EL, Kenna KP, Keagle P, Tiloca C, Vance C, Troakes C, Colombrita C, King A, Pensato V, Castellotti B, Baas F, Ten Asbroek ALMA, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Stevic Z, D'Alfonso S, Mazzini L, Comi GP, Del Bo R, Ceroni M, Gagliardi S, Querin G, Bertolin C, van Rheenen W, Rademakers R, van Blitterswijk M, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Williams KL, Nicholson GA, Blair IP, Leblond-Manry C, Rouleau GA, Hardiman O, Morrison KE, Veldink J… See abstract for full author list ➔ Johnson JO, et al. Among authors: soraru g. JAMA Neurol. 2021 Oct 1;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598. JAMA Neurol. 2021. PMID: 34459874 Free PMC article.
Defective excitation-contraction coupling and mitochondrial respiration precede mitochondrial Ca2+ accumulation in spinobulbar muscular atrophy skeletal muscle.
Marchioretti C, Zanetti G, Pirazzini M, Gherardi G, Nogara L, Andreotti R, Martini P, Marcucci L, Canato M, Nath SR, Zuccaro E, Chivet M, Mammucari C, Pacifici M, Raffaello A, Rizzuto R, Mattarei A, Desbats MA, Salviati L, Megighian A, Sorarù G, Pegoraro E, Belluzzi E, Pozzuoli A, Biz C, Ruggieri P, Romualdi C, Lieberman AP, Babu GJ, Sandri M, Blaauw B, Basso M, Pennuto M. Marchioretti C, et al. Among authors: soraru g. Nat Commun. 2023 Feb 6;14(1):602. doi: 10.1038/s41467-023-36185-w. Nat Commun. 2023. PMID: 36746942 Free PMC article.
LSD1/PRMT6-targeting gene therapy to attenuate androgen receptor toxic gain-of-function ameliorates spinobulbar muscular atrophy phenotypes in flies and mice.
Prakasam R, Bonadiman A, Andreotti R, Zuccaro E, Dalfovo D, Marchioretti C, Tripathy D, Petris G, Anderson EN, Migazzi A, Tosatto L, Cereseto A, Battaglioli E, Sorarù G, Lim WF, Rinaldi C, Sambataro F, Pourshafie N, Grunseich C, Romanel A, Pandey UB, Contestabile A, Ronzitti G, Basso M, Pennuto M. Prakasam R, et al. Among authors: soraru g. Nat Commun. 2023 Feb 6;14(1):603. doi: 10.1038/s41467-023-36186-9. Nat Commun. 2023. PMID: 36746939 Free PMC article.
AR cooperates with SMAD4 to maintain skeletal muscle homeostasis.
Forouhan M, Lim WF, Zanetti-Domingues LC, Tynan CJ, Roberts TC, Malik B, Manzano R, Speciale AA, Ellerington R, Garcia-Guerra A, Fratta P, Sorarú G, Greensmith L, Pennuto M, Wood MJA, Rinaldi C. Forouhan M, et al. Among authors: soraru g. Acta Neuropathol. 2022 Jun;143(6):713-731. doi: 10.1007/s00401-022-02428-1. Epub 2022 May 6. Acta Neuropathol. 2022. PMID: 35522298 Free PMC article.
Beyond motor neurons: expanding the clinical spectrum in Kennedy's disease.
Manzano R, Sorarú G, Grunseich C, Fratta P, Zuccaro E, Pennuto M, Rinaldi C. Manzano R, et al. Among authors: soraru g. J Neurol Neurosurg Psychiatry. 2018 Aug;89(8):808-812. doi: 10.1136/jnnp-2017-316961. Epub 2018 Jan 20. J Neurol Neurosurg Psychiatry. 2018. PMID: 29353237 Free PMC article. Review.
Mitochondrial implications in bulbospinal muscular atrophy (Kennedy disease).
Finsterer J, Mishra A, Wakil S, Pennuto M, Soraru G. Finsterer J, et al. Among authors: soraru g. Amyotroph Lateral Scler Frontotemporal Degener. 2015;17(1-2):112-8. doi: 10.3109/21678421.2015.1089910. Epub 2015 Oct 1. Amyotroph Lateral Scler Frontotemporal Degener. 2015. PMID: 26428534 Review.
121 results