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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.
Martínez-Santamaría L, Maseda R, de Arriba MDC, Membrilla JA, Sigüenza AI, Mascías J, García M, Quintana L, Esteban-Rodríguez I, Hernández-Fernández CP, Illera N, Duarte B, Guerrero-Aspizúa S, Woodley DT, Del Río M, de Lucas R, Larcher F, Escámez MJ. Martínez-Santamaría L, et al. Among authors: mascias j. 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
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.
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.
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