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108 results

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Page 1
Case report: A single novel calpain 3 gene variant associated with mild myopathy.
Massucco S, Fossa P, Fiorillo C, Faedo E, Gemelli C, Barresi R, Ripolone M, Patrone S, Gaudio A, Mandich P, Gotta F, Baratto S, Traverso M, Pisciotta L, Zaottini F, Camera M, Scarsi E, Grandis M. Massucco S, et al. Among authors: traverso m. Front Genet. 2024 Dec 5;15:1437859. doi: 10.3389/fgene.2024.1437859. eCollection 2024. Front Genet. 2024. PMID: 39703226 Free PMC article.
HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.
Dofash LNH, Miles LB, Saito Y, Rivas E, Calcinotto V, Oveissi S, Serrano RJ, Templin R, Ramm G, Rodger A, Haywood J, Ingley E, Clayton JS, Taylor RL, Folland CL, Groth D, Hock DH, Stroud DA, Gorokhova S, Donkervoort S, Bönnemann CG, Sud M, VanNoy GE, Mangilog BE, Pais L, O'Donnell-Luria A, Madruga-Garrido M, Scala M, Fiorillo C, Baratto S, Traverso M, Malfatti E, Bruno C, Zara F, Paradas C, Ogata K, Nishino I, Laing NG, Bryson-Richardson RJ, Cabrera-Serrano M, Ravenscroft G. Dofash LNH, et al. Among authors: traverso m. Brain. 2024 Nov 12:awae371. doi: 10.1093/brain/awae371. Online ahead of print. Brain. 2024. PMID: 39531736
Natural history of Becker muscular dystrophy: DMD gene mutations predict clinical severity.
Gorgoglione D, Sabbatini D, Riguzzi P, Capece G, Pane M, Servidei S, Briganti M, Sancricca C, Bruschi F, Ardissone A, Masson R, Gallone A, Maggi L, Picillo E, Politano L, Petrosino A, Vianello S, Penzo M, Villa M, Sframeli M, Allegra C, Barp A, Di Bari A, Salmin F, Albamonte E, Colacicco G, Panicucci C, Traverso M, Palermo C, Lerario A, Velardo D, D'Angelo MG, Berardinelli A, Gardani A, Nicotra R, Parravicini S, Siciliano G, Ricci G, Torri F, Gadaleta G, Urbano G, Rolle E, Ricci F, D'Amico A, Catteruccia M, Pini A, Giannotta M, Battini R, Marinella G, Previtali SC, Zambon AA, Ferlini A, Fortunato F, Magri F, Mongini TE, Sansone VA, Bruno C, Messina S, Nigro V, Moroni I, Mercuri E, Bello L, Pegoraro E. Gorgoglione D, et al. Among authors: traverso m. Brain. 2024 Nov 5:awae358. doi: 10.1093/brain/awae358. Online ahead of print. Brain. 2024. PMID: 39499670
The neurological core features of the infantile-onset multisystem neurologic, endocrine, and pancreatic disease: A novel nonsense mutation in an Italian family.
Mammi A, Geroldi A, Patrone S, Gotta F, Origone P, Gaudio A, La Barbera A, Sanguineri F, Ponti C, Iacomino M, Traverso M, Ferlazzo E, Schenone A, Pascarella A, Marsico O, Mandich P, Bellone E. Mammi A, et al. Among authors: traverso m. J Peripher Nerv Syst. 2024 Jun;29(2):279-285. doi: 10.1111/jns.12636. Epub 2024 Jun 14. J Peripher Nerv Syst. 2024. PMID: 38874107
Expanding the phenotype of UPF3B-related disorder: Case reports and literature review.
Romano F, Haanpää MK, Pomianowski P, Peraino AR, Pollard JR, Di Feo MF, Traverso M, Severino M, Derchi M, Henzen E, Zara F, Faravelli F, Capra V, Scala M. Romano F, et al. Among authors: traverso m. Am J Med Genet A. 2024 Jun;194(6):e63534. doi: 10.1002/ajmg.a.63534. Epub 2024 Feb 6. Am J Med Genet A. 2024. PMID: 38318947 Review.
108 results