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ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Schlüter A, Vélez-Santamaría V, Verdura E, Rodríguez-Palmero A, Ruiz M, Fourcade S, Planas-Serra L, Launay N, Guilera C, Martínez JJ, Homedes-Pedret C, Albertí-Aguiló MA, Zulaika M, Martí I, Troncoso M, Tomás-Vila M, Bullich G, García-Pérez MA, Sobrido-Gómez MJ, López-Laso E, Fons C, Del Toro M, Macaya A; HSP/ataxia workgroup; Beltran S, Gutiérrez-Solana LG, Pérez-Jurado LA, Aguilera-Albesa S, de Munain AL, Casasnovas C, Pujol A. Schlüter A, et al. Among authors: casasnovas c. Genome Med. 2023 Sep 7;15(1):68. doi: 10.1186/s13073-023-01214-2. Genome Med. 2023. PMID: 37679823 Free PMC article.
Bulbar involvement in patients with antiganglioside antibodies against NeuNAc(alpha2-3)Gal.
Rojas-Garcia R, Gallardo E, De Luna N, Juarez C, Martinez-Hernandez E, Carvajal A, Casasnovas C, Fages E, Davila-González P, Illa I. Rojas-Garcia R, et al. Among authors: casasnovas c. J Neurol Neurosurg Psychiatry. 2010 Jun;81(6):623-8. doi: 10.1136/jnnp.2009.183517. Epub 2009 Sep 2. J Neurol Neurosurg Psychiatry. 2010. PMID: 19726412
Electrodiagnosis of Guillain-Barre syndrome in the International GBS Outcome Study: Differences in methods and reference values.
Arends S, Drenthen J, van den Bergh P, Franssen H, Hadden RDM, Islam B, Kuwabara S, Reisin RC, Shahrizaila N, Amino H, Antonini G, Attarian S, Balducci C, Barroso F, Bertorini T, Binda D, Brannagan TH, Buermann J, Casasnovas C, Cavaletti G, Chao CC, Dimachkie MM, Fulgenzi EA, Galassi G, Gutiérrez Gutiérrez G, Harbo T, Hartung HP, Hsieh ST, Kiers L, Lehmann HC, Manganelli F, Marfia GA, Mataluni G, Pardo J, Péréon Y, Rajabally YA, Santoro L, Sekiguchi Y, Stein B, Stettner M, Uncini A, Verboon C, Verhamme C, Vytopil M, Waheed W, Wang M, Zivkovic S, Jacobs BC, Cornblath DR; IGOS consortium. Arends S, et al. Among authors: casasnovas c. Clin Neurophysiol. 2022 Jun;138:231-240. doi: 10.1016/j.clinph.2021.12.014. Epub 2022 Jan 13. Clin Neurophysiol. 2022. PMID: 35078730 Free article.
Oral fingolimod for chronic inflammatory demyelinating polyradiculoneuropathy (FORCIDP Trial): a double-blind, multicentre, randomised controlled trial.
Hughes R, Dalakas MC, Merkies I, Latov N, Léger JM, Nobile-Orazio E, Sobue G, Genge A, Cornblath D, Merschhemke M, Ervin CM, Agoropoulou C, Hartung HP; FORCIDP Trial Investigators. Hughes R, et al. Lancet Neurol. 2018 Aug;17(8):689-698. doi: 10.1016/S1474-4422(18)30202-3. Epub 2018 Jul 9. Lancet Neurol. 2018. PMID: 30001923 Free article. Clinical Trial.
Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy.
Abbott JA, Meyer-Schuman R, Lupo V, Feely S, Mademan I, Oprescu SN, Griffin LB, Alberti MA, Casasnovas C, Aharoni S, Basel-Vanagaite L, Züchner S, De Jonghe P, Baets J, Shy ME, Espinós C, Demeler B, Antonellis A, Francklyn C. Abbott JA, et al. Among authors: casasnovas c. Hum Mutat. 2018 Mar;39(3):415-432. doi: 10.1002/humu.23380. Epub 2017 Dec 26. Hum Mutat. 2018. PMID: 29235198 Free PMC article.
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.
Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain.
Sivera R, Frasquet M, Lupo V, García-Sobrino T, Blanco-Arias P, Pardo J, Fernández-Torrón R, de Munain AL, Márquez-Infante C, Villarreal L, Carbonell P, Rojas-García R, Segovia S, Illa I, Frongia AL, Nascimento A, Ortez C, García-Romero MDM, Pascual SI, Pelayo-Negro AL, Berciano J, Guerrero A, Casasnovas C, Camacho A, Esteban J, Chumillas MJ, Barreiro M, Díaz C, Palau F, Vílchez JJ, Espinós C, Sevilla T. Sivera R, et al. Among authors: casasnovas c. Sci Rep. 2017 Jul 27;7(1):6677. doi: 10.1038/s41598-017-06894-6. Sci Rep. 2017. PMID: 28751717 Free PMC article.
Evaluation of afferent pain pathways in adrenomyeloneuropathic patients.
Yagüe S, Veciana M, Casasnovas C, Ruiz M, Pedro J, Valls-Solé J, Pujol A. Yagüe S, et al. Among authors: casasnovas c. Clin Neurophysiol. 2018 Mar;129(3):507-515. doi: 10.1016/j.clinph.2017.12.011. Epub 2017 Dec 24. Clin Neurophysiol. 2018. PMID: 29367165
115 results