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Did you mean marina gandia (1 results)?
Clinical spectrum and frequency of Charcot-Marie-Tooth disease in Italy: Data from the National CMT Registry.
Pisciotta C, Bertini A, Tramacere I, Manganelli F, Fabrizi GM, Schenone A, Tozza S, Cavallaro T, Taioli F, Ferrarini M, Grandis M, Bellone E, Mandich P, Previtali SC, Falzone Y, Allegri I, Padua L, Pazzaglia C, Quattrone A, Valentino P, Gentile L, Russo M, Calabrese D, Moroni I, Pagliano E, Saveri P, Magri S, Baratta S, Taroni F, Mazzeo A, Santoro L, Vita G, Pareyson D; Italian CMT Network. Pisciotta C, et al. Among authors: grandis m. Eur J Neurol. 2023 Aug;30(8):2461-2470. doi: 10.1111/ene.15860. Epub 2023 May 26. Eur J Neurol. 2023. PMID: 37170966
Glycans of myelin proteins.
Sedzik J, Jastrzebski JP, Grandis M. Sedzik J, et al. Among authors: grandis m. J Neurosci Res. 2015 Jan;93(1):1-18. doi: 10.1002/jnr.23462. Epub 2014 Sep 12. J Neurosci Res. 2015. PMID: 25213400 Review.
Inherited neuropathies.
Schenone A, Nobbio L, Monti Bragadin M, Ursino G, Grandis M. Schenone A, et al. Among authors: grandis m. Curr Treat Options Neurol. 2011 Apr;13(2):160-79. doi: 10.1007/s11940-011-0115-z. Curr Treat Options Neurol. 2011. PMID: 21286948
RFC1 expansions are a common cause of idiopathic sensory neuropathy.
Currò R, Salvalaggio A, Tozza S, Gemelli C, Dominik N, Galassi Deforie V, Magrinelli F, Castellani F, Vegezzi E, Businaro P, Callegari I, Pichiecchio A, Cosentino G, Alfonsi E, Marchioni E, Colnaghi S, Gana S, Valente EM, Tassorelli C, Efthymiou S, Facchini S, Carr A, Laura M, Rossor AM, Manji H, Lunn MP, Pegoraro E, Santoro L, Grandis M, Bellone E, Beauchamp NJ, Hadjivassiliou M, Kaski D, Bronstein AM, Houlden H, Reilly MM, Mandich P, Schenone A, Manganelli F, Briani C, Cortese A. Currò R, et al. Among authors: grandis m. Brain. 2021 Jun 22;144(5):1542-1550. doi: 10.1093/brain/awab072. Brain. 2021. PMID: 33969391 Free PMC article.
Response to Dr. Wee.
Jann S, Fazio R, Cocito D, Toscano A, Schenone A, Marfia GA, Antonini G, Franceschini LT, Mazzeo A, Grandis M, Velardo D, Mataluni G, Peci E. Jann S, et al. Among authors: grandis m. Pain Med. 2020 Oct 1;21(10):2604. doi: 10.1093/pm/pnaa056. Pain Med. 2020. PMID: 32457998 No abstract available.
Congenital myopathies: clinical phenotypes and new diagnostic tools.
Cassandrini D, Trovato R, Rubegni A, Lenzi S, Fiorillo C, Baldacci J, Minetti C, Astrea G, Bruno C, Santorelli FM; Italian Network on Congenital Myopathies. Cassandrini D, et al. Ital J Pediatr. 2017 Nov 15;43(1):101. doi: 10.1186/s13052-017-0419-z. Ital J Pediatr. 2017. PMID: 29141652 Free PMC article. Review.
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1-Related Myopathies.
Dosi C, Rubegni A, Baldacci J, Galatolo D, Doccini S, Astrea G, Berardinelli A, Bruno C, Bruno G, Comi GP, Donati MA, Dotti MT, Filosto M, Fiorillo C, Giannini F, Gigli GL, Grandis M, Lopergolo D, Magri F, Maioli MA, Malandrini A, Massa R, Matà S, Melani F, Messina S, Mignarri A, Moggio M, Pennisi EM, Pegoraro E, Ricci G, Sacchini M, Schenone A, Sampaolo S, Sciacco M, Siciliano G, Tasca G, Tonin P, Tupler R, Valente M, Volpi N, Cassandrini D, Santorelli FM. Dosi C, et al. Among authors: grandis m. Genes (Basel). 2023 Jan 23;14(2):298. doi: 10.3390/genes14020298. Genes (Basel). 2023. PMID: 36833224 Free PMC article.
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
Currò R, Dominik N, Facchini S, Vegezzi E, Sullivan R, Galassi Deforie V, Fernández-Eulate G, Traschütz A, Rossi S, Garibaldi M, Kwarciany M, Taroni F, Brusco A, Good JM, Cavalcanti F, Hammans S, Ravenscroft G, Roxburgh RH; RFC1 repeat expansion study group; Parolin Schnekenberg R, Rugginini B, Abati E, Manini A, Quartesan I, Ghia A, Lòpez de Munaìn A, Manganelli F, Kennerson M, Santorelli FM, Infante J, Marques W, Jokela M, Murphy SM, Mandich P, Fabrizi GM, Briani C, Gosal D, Pareyson D, Ferrari A, Prados F, Yousry T, Khurana V, Kuo SH, Miller J, Troakes C, Jaunmuktane Z, Giunti P, Hartmann A, Basak N, Synofzik M, Stojkovic T, Hadjivassiliou M, Reilly MM, Houlden H, Cortese A. Currò R, et al. Brain. 2024 Jan 9:awad436. doi: 10.1093/brain/awad436. Online ahead of print. Brain. 2024. PMID: 38193360
Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease.
Maggi L, Bello L, Bonanno S, Govoni A, Caponnetto C, Passamano L, Grandis M, Trojsi F, Cerri F, Gardani A, Ferraro M, Gadaleta G, Zangaro V, Caumo L, Maioli M, Tanel R, Saccani E, Meneri M, Vacchiano V, Ricci G, Sorarù G, D'Errico E, Bortolani S, Pavesi G, Gellera C, Zanin R, Corti S, Silvestrini M, Politano L, Schenone A, Previtali SC, Berardinelli A, Turri M, Verriello L, Coccia M, Mantegazza R, Liguori R, Filosto M, Marrosu G, Tiziano FD, Siciliano G, Simone IL, Mongini T, Comi G, Pegoraro E. Maggi L, et al. Among authors: grandis m. J Neurol Neurosurg Psychiatry. 2022 Dec;93(12):1253-1261. doi: 10.1136/jnnp-2022-329320. Epub 2022 Oct 11. J Neurol Neurosurg Psychiatry. 2022. PMID: 36220341
Case report: Episodic ataxia without ataxia?
Gaudio A, Gotta F, Ponti C, Sanguineri F, Trevisan L, Geroldi A, Patrone S, Gemelli C, Cabona C, Astrea G, Fiorillo C, Gustincich S, Grandis M, Mandich P. Gaudio A, et al. Among authors: grandis m. Front Neurol. 2023 Oct 26;14:1224241. doi: 10.3389/fneur.2023.1224241. eCollection 2023. Front Neurol. 2023. PMID: 37965175 Free PMC article.
90 results