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Evaluation of Systemic Gentamicin as Translational Readthrough Therapy for a Patient With Epidermolysis Bullosa Simplex With Muscular Dystrophy Owing to PLEC1 Pathogenic Nonsense Variants.
JAMA Dermatol. 2022 Apr 1;158(4):439-443. doi: 10.1001/jamadermatol.2022.0112.
JAMA Dermatol. 2022.
PMID: 35234827
Free PMC article.
Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide.
García-Redondo A, Dols-Icardo O, Rojas-García R, Esteban-Pérez J, Cordero-Vázquez P, Muñoz-Blanco JL, Catalina I, González-Muñoz M, Varona L, Sarasola E, Povedano M, Sevilla T, Guerrero A, Pardo J, López de Munain A, Márquez-Infante C, de Rivera FJ, Pastor P, Jericó I, de Arcaya AÁ, Mora JS, Clarimón J; C9ORF72 Spanish Study Group; Gonzalo-Martínez JF, Juárez-Rufián A, Atencia G, Jiménez-Bautista R, Morán Y, Mascías J, Hernández-Barral M, Kapetanovic S, García-Barcina M, Alcalá C, Vela A, Ramírez-Ramos C, Galán L, Pérez-Tur J, Quintáns B, Sobrido MJ, Fernández-Torrón R, Poza JJ, Gorostidi A, Paradas C, Villoslada P, Larrodé P, Capablo JL, Pascual-Calvet J, Goñi M, Morgado Y, Guitart M, Moreno-Laguna S, Rueda A, Martín-Estefanía C, Cemillán C, Blesa R, Lleó A.
García-Redondo A, et al. Among authors: mascias j.
Hum Mutat. 2013 Jan;34(1):79-82. doi: 10.1002/humu.22211. Epub 2012 Oct 11.
Hum Mutat. 2013.
PMID: 22936364
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Long-term survival analysis of masitinib in amyotrophic lateral sclerosis.
Mora JS, Bradley WG, Chaverri D, Hernández-Barral M, Mascias J, Gamez J, Gargiulo-Monachelli GM, Moussy A, Mansfield CD, Hermine O, Ludolph AC.
Mora JS, et al. Among authors: mascias j.
Ther Adv Neurol Disord. 2021 Jul 19;14:17562864211030365. doi: 10.1177/17562864211030365. eCollection 2021.
Ther Adv Neurol Disord. 2021.
PMID: 34457038
Free PMC article.
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Masitinib as an add-on therapy to riluzole in patients with amyotrophic lateral sclerosis: a randomized clinical trial.
Mora JS, Genge A, Chio A, Estol CJ, Chaverri D, Hernández M, Marín S, Mascias J, Rodriguez GE, Povedano M, Paipa A, Dominguez R, Gamez J, Salvado M, Lunetta C, Ballario C, Riva N, Mandrioli J, Moussy A, Kinet JP, Auclair C, Dubreuil P, Arnold V, Mansfield CD, Hermine O; AB10015 STUDY GROUP.
Mora JS, et al. Among authors: mascias j.
Amyotroph Lateral Scler Frontotemporal Degener. 2020 Feb;21(1-2):5-14. doi: 10.1080/21678421.2019.1632346. Epub 2019 Jul 7.
Amyotroph Lateral Scler Frontotemporal Degener. 2020.
PMID: 31280619
Free article.
Clinical Trial.
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[Acute dystonia secondary to treatment with betahistine].
Mascías J, Pérez OS, Chaverri D, Mora JS.
Mascías J, et al.
Neurologia. 2000 Nov;15(9):417.
Neurologia. 2000.
PMID: 11195153
Spanish.
No abstract available.
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A phase II-III trial of olesoxime in subjects with amyotrophic lateral sclerosis.
Lenglet T, Lacomblez L, Abitbol JL, Ludolph A, Mora JS, Robberecht W, Shaw PJ, Pruss RM, Cuvier V, Meininger V; Mitotarget study group.
Lenglet T, et al.
Eur J Neurol. 2014 Mar;21(3):529-36. doi: 10.1111/ene.12344. Epub 2014 Jan 21.
Eur J Neurol. 2014.
PMID: 24447620
Clinical Trial.
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Acute painful diabetic neuropathy following severe weight loss.
Castellanos F, Mascias J, Zabala JA, Ricart C, Cabello A, Garcia-Merino A.
Castellanos F, et al. Among authors: mascias j.
Muscle Nerve. 1996 Apr;19(4):463-7. doi: 10.1002/(SICI)1097-4598(199604)19:4<463::AID-MUS6>3.0.CO;2-A.
Muscle Nerve. 1996.
PMID: 8622725
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