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EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders.
Atalaia A, Wandrei D, Lalout N, Thompson R, Tassoni A, 't Hoen PAC, Athanasiou D, Baker SA, Sakellariou P, Paliouras G, D'Angelo C, Horvath R, Mancuso M, van der Beek N, Kornblum C, Kirschner J, Pareyson D, Bassez G, Blacas L, Jacoupy M, Eng C, Lamy F, Plançon JP, Haberlova J, Brusse E, Hoeijmakers JGJ, de Visser M, Claeys KG, Paradas C, Toscano A, Silani V, Gyenge M, Reviers E, Hamroun D, Vroom E, Wilkinson MD, Lochmuller H, Evangelista T. Atalaia A, et al. Among authors: silani v. Orphanet J Rare Dis. 2024 Feb 14;19(1):66. doi: 10.1186/s13023-024-03059-3. Orphanet J Rare Dis. 2024. PMID: 38355534 Free PMC article. Review.
Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey.
El-Hassar L, Amara A, Sanson B, Lacatus O, Amir Belhouchet A, Kroneman M, Claeys K, Plançon JP, Rodolico C, Primiano G, Trojsi F, Filosto M, Mongini TE, Bortolani S, Monforte M, Carraro E, Maggi L, Ricci F, Silani V, Orsucci D, Créange A, Péréon Y, Stojkovic T, van der Beek NAME, Toscano A, Pareyson D, Attarian S, Van den Bergh PYK, Remiche G, Hoeijmakers JGJ, Badrising U, Voermans NC, Kaindl AM, Schara-Schmidt U, Schoser B, Gazzerro E, Haberlová J, Voháňka S, Pál E, Molnar MJ, Leonardis L, Tournev IL, Osorio AN, Olivé M, Muelas N, Alonso-Perez J, Plá F, de Visser M, Siciliano G, Sacconi S. El-Hassar L, et al. Among authors: silani v. J Neuromuscul Dis. 2023;10(2):173-184. doi: 10.3233/JND-221525. J Neuromuscul Dis. 2023. PMID: 36373291 Free article.
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. Among authors: silani v. Neuron. 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027. Neuron. 2018. PMID: 29566793 Free PMC article.
Behavioral Disorders of Spatial Cognition in Patients with Mild Cognitive Impairment Due to Alzheimer's Disease (The BDSC-MCI Project): Ecological Validity of the Corsi Learning Suvra-Span Test.
Cammisuli DM, Marchesi G, Bellocchio V, Aiello EN, Poletti B, Verde F, Silani V, Ticozzi N, Zago S, Difonzo T, Isella V, Pomati S, Granese V, Vignati B, Prete LA, Castelnuovo G. Cammisuli DM, et al. Among authors: silani v. J Pers Med. 2024 May 17;14(5):539. doi: 10.3390/jpm14050539. J Pers Med. 2024. PMID: 38793121
Mutations in the tail and rod domains of the neurofilament heavy-chain gene increase the risk of ALS.
Marriott H, Spargo TP, Al Khleifat A, Andersen PM, Başak NA, Cooper-Knock J, Corcia P, Couratier P, de Carvalho M, Drory V, Gotkine M, Landers JE, McLaughlin R, Pardina JSM, Morrison KE, Pinto S, Shaw CE, Shaw PJ, Silani V, Ticozzi N, van Damme P, van den Berg LH, Vourc'h P, Weber M, Veldink JH; Project MinE ALS Sequencing Consortium; Dobson RJ, Schwab P, Al-Chalabi A, Iacoangeli A. Marriott H, et al. Among authors: silani v. Ann Clin Transl Neurol. 2024 May 22. doi: 10.1002/acn3.52083. Online ahead of print. Ann Clin Transl Neurol. 2024. PMID: 38775181 Free article.
Clinical validity of the Italian adaptation of the Uniform Data Set Neuropsychological Test Battery (I-UDSNB) in Mild Cognitive Impairment and Alzheimer's Disease.
Conca F, Esposito V, Catricalà E, Manenti R, L'Abbate F, Quaranta D, Giuffrè GM, Rossetto F, Solca F, Orso B, Inguscio E, Crepaldi V, De Matteis M, Rotondo E, Manera M, Caruso G, Catania V, Canu E, Rundo F, Cotta Ramusino M, Filippi M, Fundarò C, Piras F, Arighi A, Tiraboschi P, Stanzani Maserati M, Pardini M, Poletti B, Silani V, Marra C, Di Tella S, Cotelli M, Lodi R, Tagliavini F, Cappa SF. Conca F, et al. Among authors: silani v. Alzheimers Res Ther. 2024 May 4;16(1):98. doi: 10.1186/s13195-024-01465-0. Alzheimers Res Ther. 2024. PMID: 38704608 Free PMC article.
Longitudinal Feasibility of the Montreal Cognitive Assessment (MoCA) in Non-Demented ALS Patients.
Aiello EN, Solca F, Torre S, Colombo E, Maranzano A, De Lorenzo A, Patisso V, Treddenti M, Curti B, Morelli C, Doretti A, Verde F, Ferrucci R, Barbieri S, Ruggiero F, Priori A, Silani V, Ticozzi N, Poletti B. Aiello EN, et al. Among authors: silani v. Eur Neurol. 2024 Apr 20:1-5. doi: 10.1159/000538828. Online ahead of print. Eur Neurol. 2024. PMID: 38643758
Clinical and neuroanatomical characterization of the semantic behavioral variant of frontotemporal dementia in a multicenter Italian cohort.
Ghirelli A, Spinelli EG, Canu E, Basaia S, Castelnovo V, Cecchetti G, Sibilla E, Domi T, Magnani G, Caso F, Caroppo P, Prioni S, Villa C, Rossi G, Tremolizzo L, Appollonio I, Verde F, Ticozzi N, Silani V, Filippi M, Agosta F. Ghirelli A, et al. Among authors: silani v. J Neurol. 2024 Apr 10. doi: 10.1007/s00415-024-12338-9. Online ahead of print. J Neurol. 2024. PMID: 38597943
Hypothalamic involvement in multiple system atrophy: A structural MRI study.
Pasquini J, Firbank MJ, Best L, Foster V, Galley D, Silani V, Ceravolo R, Petrides G, Brooks DJ, Anderson KN, Pavese N. Pasquini J, et al. Among authors: silani v. J Neurol Sci. 2024 May 15;460:122985. doi: 10.1016/j.jns.2024.122985. Epub 2024 Apr 2. J Neurol Sci. 2024. PMID: 38581741 Free article.
475 results