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Page 1
SCARB1 downregulation in adrenal insufficiency with Allgrove syndrome.
Bitetto G, Lopez G, Ronchi D, Pittaro A, Melzi V, Peverelli E, Cribiù FM, Comi GP, Mantovani G, Di Fonzo A. Bitetto G, et al. Among authors: comi gp. Orphanet J Rare Dis. 2023 Jun 19;18(1):152. doi: 10.1186/s13023-023-02763-w. Orphanet J Rare Dis. 2023. PMID: 37331934 Free PMC article.
The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development.
Heslop E, Csimma C, Straub V, McCall J, Nagaraju K, Wagner KR, Caizergues D, Korinthenberg R, Flanigan KM, Kaufmann P, McNeil E, Mendell J, Hesterlee S, Wells DJ, Bushby K; TACT. Heslop E, et al. Orphanet J Rare Dis. 2015 Apr 23;10:49. doi: 10.1186/s13023-015-0258-1. Orphanet J Rare Dis. 2015. PMID: 25902795 Free PMC article. Review.
A rare association of Guillain-Barré syndrome/Miller-Fisher syndrome overlap syndrome and Herpes Simplex Virus Type 1 infection: trigger or exacerbating factor?
Alberti C, Molitierno N, Iacobelli V, Velardo D, Comi GP, Corti S, Parisi M, Abati E. Alberti C, et al. Among authors: comi gp. Ther Adv Neurol Disord. 2024 Dec 3;17:17562864241297086. doi: 10.1177/17562864241297086. eCollection 2024. Ther Adv Neurol Disord. 2024. PMID: 39628849 Free PMC article.
Lewy pathology formation in patient-derived GBA1 Parkinson's disease midbrain organoids.
Frattini E, Faustini G, Lopez G, Carsana EV, Tosi M, Trezzi I, Magni M, Soldà G, Straniero L, Facchi D, Samarani M, Martá-Ariza M, De Luca CMG, Vezzoli E, Pittaro A, Stepanyan A, Silipigni R, Rosety I, Schwamborn JC, Sardi SP, Moda F, Corti S, Comi GP, Blandini F, Tritsch NX, Bortolozzi M, Ferrero S, Cribiù FM, Wisniewski T, Asselta R, Aureli M, Bellucci A, Di Fonzo A. Frattini E, et al. Among authors: comi gp. Brain. 2024 Nov 21:awae365. doi: 10.1093/brain/awae365. Online ahead of print. Brain. 2024. PMID: 39570889
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: comi gp. 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.
Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
Cortese A, Beecroft SJ, Facchini S, Curro R, Cabrera-Serrano M, Stevanovski I, Chintalaphani SR, Gamaarachchi H, Weisburd B, Folland C, Monahan G, Scriba CK, Dofash L, Johari M, Grosz BR, Ellis M, Fearnley LG, Tankard R, Read J, Merve A, Dominik N, Vegezzi E, Schnekenberg RP, Fernandez-Eulate G, Masingue M, Giovannini D, Delatycki MB, Storey E, Gardner M, Amor DJ, Nicholson G, Vucic S, Henderson RD, Robertson T, Dyke J, Fabian V, Mastaglia F, Davis MR, Kennerson M; OPDM study group; Quinlivan R, Hammans S, Tucci A, Bahlo M, McLean CA, Laing NG, Stojkovic T, Houlden H, Hanna MG, Deveson IW, Lockhart PJ, Lamont PJ, Fahey MC, Bugiardini E, Ravenscroft G. Cortese A, et al. Nat Commun. 2024 Oct 17;15(1):8955. doi: 10.1038/s41467-024-53151-2. Nat Commun. 2024. PMID: 39419991 Free PMC article. No abstract available.
Exploiting the role of CSF NfL, CHIT1, and miR-181b as potential diagnostic and prognostic biomarkers for ALS.
Gagliardi D, Rizzuti M, Masrori P, Saccomanno D, Del Bo R, Sali L, Meneri M, Scarcella S, Milone I, Hersmus N, Ratti A, Ticozzi N, Silani V, Poesen K, Van Damme P, Comi GP, Corti S, Verde F. Gagliardi D, et al. Among authors: comi gp. J Neurol. 2024 Dec;271(12):7557-7571. doi: 10.1007/s00415-024-12699-1. Epub 2024 Sep 28. J Neurol. 2024. PMID: 39340541 Free PMC article.
530 results