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Page 1
Plasma metabolome and skin proteins in Charcot-Marie-Tooth 1A patients.
Soldevilla B, Cuevas-Martín C, Ibáñez C, Santacatterina F, Alberti MA, Simó C, Casasnovas C, Márquez-Infante C, Sevilla T, Pascual SI, Sánchez-Aragó M, Espinos C, Palau F, Cuezva JM. Soldevilla B, et al. Among authors: casasnovas c. PLoS One. 2017 Jun 2;12(6):e0178376. doi: 10.1371/journal.pone.0178376. eCollection 2017. PLoS One. 2017. PMID: 28575008 Free PMC article.
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.
Matuozzo D, Talouarn E, Marchal A, Zhang P, Manry J, Seeleuthner Y, Zhang Y, Bolze A, Chaldebas M, Milisavljevic B, Gervais A, Bastard P, Asano T, Bizien L, Barzaghi F, Abolhassani H, Abou Tayoun A, Aiuti A, Alavi Darazam I, Allende LM, Alonso-Arias R, Arias AA, Aytekin G, Bergman P, Bondesan S, Bryceson YT, Bustos IG, Cabrera-Marante O, Carcel S, Carrera P, Casari G, Chaïbi K, Colobran R, Condino-Neto A, Covill LE, Delmonte OM, El Zein L, Flores C, Gregersen PK, Gut M, Haerynck F, Halwani R, Hancerli S, Hammarström L, Hatipoğlu N, Karbuz A, Keles S, Kyheng C, Leon-Lopez R, Franco JL, Mansouri D, Martinez-Picado J, Metin Akcan O, Migeotte I, Morange PE, Morelle G, Martin-Nalda A, Novelli G, Novelli A, Ozcelik T, Palabiyik F, Pan-Hammarström Q, de Diego RP, Planas-Serra L, Pleguezuelo DE, Prando C, Pujol A, Reyes LF, Rivière JG, Rodriguez-Gallego C, Rojas J, Rovere-Querini P, Schlüter A, Shahrooei M, Sobh A, Soler-Palacin P, Tandjaoui-Lambiotte Y, Tipu I, Tresoldi C, Troya J, van de Beek D, Zatz M, Zawadzki P, Al-Muhsen SZ, Alosaimi MF, Alsohime FM, Baris-Feldman H, Butte MJ, Constantinescu SN, Cooper MA, Dalgard CL, Fellay J, Heath JR, Lau YL, Lifton RP, Maniatis T, Mogensen TH, v… See abstract for full author list ➔ Matuozzo D, et al. Genome Med. 2023 Apr 5;15(1):22. doi: 10.1186/s13073-023-01173-8. Genome Med. 2023. PMID: 37020259 Free PMC article.
CSF Findings in Relation to Clinical Characteristics, Subtype, and Disease Course in Patients With Guillain-Barré Syndrome.
Al-Hakem H, Doets AY, Stino AM, Zivkovic SA, Andersen H, Willison HJ, Cornblath DR, Gorson KC, Islam Z, Mohammad QD, Sindrup SH, Kusunoki S, Davidson A, Casasnovas C, Bateman K, Miller JAL, van den Berg B, Verboon C, Roodbol J, Leonhard SE, Arends S, Luijten LWG, Benedetti L, Kuwabara S, Van den Bergh P, Monges S, Marfia GA, Shahrizaila N, Galassi G, Pereon Y, Bürmann J, Kuitwaard K, Kleyweg RP, Marchesoni C, Sedano Tous MJ, Querol L, Martín-Aguilar L, Wang Y, Nobile-Orazio E, Rinaldi S, Schenone A, Pardo J, Vermeij FH, Waheed W, Lehmann HC, Granit V, Stein B, Cavaletti G, Gutiérrez-Gutiérrez G, Barroso FA, Visser LH, Katzberg HD, Dardiotis E, Attarian S, van der Kooi AJ, Eftimov F, Wirtz PW, Samijn JPA, Gilhuis HJ, Hadden RDM, Holt JKL, Sheikh KA, Kolb N, Karafiath S, Vytopil M, Antonini G, Feasby TE, Faber C, Kramers H, Busby M, Roberts RC, Silvestri NJ, Fazio R, van Dijk GW, Garssen MPJ, Verschuuren J, Harbo T, Jacobs BC; IGOS Consortium. Al-Hakem H, et al. Among authors: casasnovas c. Neurology. 2023 Jun 6;100(23):e2386-e2397. doi: 10.1212/WNL.0000000000207282. Epub 2023 Apr 19. Neurology. 2023. PMID: 37076309
Safety and efficacy of rozanolixizumab in patients with generalised myasthenia gravis (MycarinG): a randomised, double-blind, placebo-controlled, adaptive phase 3 study.
Bril V, Drużdż A, Grosskreutz J, Habib AA, Mantegazza R, Sacconi S, Utsugisawa K, Vissing J, Vu T, Boehnlein M, Bozorg A, Gayfieva M, Greve B, Woltering F, Kaminski HJ; MG0003 study team. Bril V, et al. Lancet Neurol. 2023 May;22(5):383-394. doi: 10.1016/S1474-4422(23)00077-7. Lancet Neurol. 2023. PMID: 37059507 Clinical Trial.
Efficacy and safety of vutrisiran for patients with hereditary transthyretin-mediated amyloidosis with polyneuropathy: a randomized clinical trial.
Adams D, Tournev IL, Taylor MS, Coelho T, Planté-Bordeneuve V, Berk JL, González-Duarte A, Gillmore JD, Low SC, Sekijima Y, Obici L, Chen C, Badri P, Arum SM, Vest J, Polydefkis M; HELIOS-A Collaborators. Adams D, et al. Amyloid. 2023 Mar;30(1):1-9. doi: 10.1080/13506129.2022.2091985. Epub 2022 Jul 23. Amyloid. 2023. PMID: 35875890 Clinical Trial.
A narrative review and expert recommendations on the assessment of the clinical manifestations, follow-up, and management of post-OLT patients with ATTRv amyloidosis.
Casasnovas C, Lladó L, Borrachero C, Pérez-Santamaría PV, Muñoz-Beamud F, Losada-López IA, Baliellas-Comellas MC, González-Moreno J. Casasnovas C, et al. Ther Adv Neurol Disord. 2023 Aug 24;16:17562864231191590. doi: 10.1177/17562864231191590. eCollection 2023. Ther Adv Neurol Disord. 2023. PMID: 37655225 Free PMC article. Review.
Eculizumab improves fatigue in refractory generalized myasthenia gravis.
Andersen H, Mantegazza R, Wang JJ, O'Brien F, Patra K, Howard JF Jr; REGAIN Study Group. Andersen H, et al. Qual Life Res. 2019 Aug;28(8):2247-2254. doi: 10.1007/s11136-019-02148-2. Epub 2019 Mar 23. Qual Life Res. 2019. PMID: 30905021 Free PMC article. Clinical Trial.
Long-term outcome in chronic inflammatory demyelinating polyneuropathy patients treated with intravenous immunoglobulin: a retrospective study.
Querol L, Rojas-Garcia R, Casasnovas C, Sedano MJ, Muñoz-Blanco JL, Alberti MA, Paradas C, Sevilla T, Pardo J, Capablo JL, Sivera R, Guerrero A, Gutierrez-Rivas E, Illa I. Querol L, et al. Among authors: casasnovas c. Muscle Nerve. 2013 Dec;48(6):870-6. doi: 10.1002/mus.23843. Epub 2013 Sep 11. Muscle Nerve. 2013. PMID: 23512566
Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy.
Lupo V, García-García F, Sancho P, Tello C, García-Romero M, Villarreal L, Alberti A, Sivera R, Dopazo J, Pascual-Pascual SI, Márquez-Infante C, Casasnovas C, Sevilla T, Espinós C. Lupo V, et al. Among authors: casasnovas c. J Mol Diagn. 2016 Mar;18(2):225-34. doi: 10.1016/j.jmoldx.2015.10.005. Epub 2016 Jan 2. J Mol Diagn. 2016. PMID: 26752306 Free article.
116 results