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Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry.
Martinez-Marin RJ, Reyes-Leiva D, Nascimento A, Muelas N, Dominguez-González C, Paradas C, Olivé M, García-Romero M, Pascual-Pascual SI, Grau JM, Barba-Romero MA, Gomez-Caravaca MT, de Las Heras J, Casquero P, Mendoza MD, de León JC, Gutierrez A, Morís G, Blanco-Lago R, Ramos-Fransi A, Pintós G, García-Antelo MJ, Rabasa M, Morgado Y, Usón M, Miralles FJ, Bárcena-Llona JE, Gómez-Belda AB, Pedraza-Hueso MI, Hortelano M, Colomé A, Garcia-Martin G, Lopez de Munain A, Jericó I, Galán-Dávila L, Pardo J, Salgueiro-Origlia G, Alonso-Pérez J, Pla-Junca F, Schiava M, Segovia-Simón S, Díaz-Manera J. Martinez-Marin RJ, et al. Among authors: galan davila l. Neuromuscul Disord. 2024 Jan;34:1-8. doi: 10.1016/j.nmd.2023.10.001. Epub 2023 Nov 13. Neuromuscul Disord. 2024. PMID: 38087756
Erratum: Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies.
Dou J, Bakulski K, Guo K, Hur J, Zhao L, Saez-Atienzar S, Stark A, Chia R, García-Redondo A, Rojas-Garcia R, Vázquez Costa JF, Santiago RF, Bandres-Ciga S, Gómez-Garre P, Periñán MT, Mir P, Pérez-Tur J, Cardona F, Menendez-Gonzalez M, Riancho J, Borrego-Hernández D, Galán-Dávila L, Ceberio JI, Pastor P, Paradas C, Dols-Icardo O; Spanish Neurological Consortium; Traynor BJ, Feldman EL, Goutman SA. Dou J, et al. Among authors: galan davila l. Neurol Genet. 2023 Jul 25;9(5):e200095. doi: 10.1212/NXG.0000000000200095. eCollection 2023 Oct. Neurol Genet. 2023. PMID: 37521204 Free PMC article.
Eplontersen for Hereditary Transthyretin Amyloidosis With Polyneuropathy.
Coelho T, Marques W Jr, Dasgupta NR, Chao CC, Parman Y, França MC Jr, Guo YC, Wixner J, Ro LS, Calandra CR, Kowacs PA, Berk JL, Obici L, Barroso FA, Weiler M, Conceição I, Jung SW, Buchele G, Brambatti M, Chen J, Hughes SG, Schneider E, Viney NJ, Masri A, Gertz MR, Ando Y, Gillmore JD, Khella S, Dyck PJB, Waddington Cruz M; NEURO-TTRansform Investigators. Coelho T, et al. JAMA. 2023 Oct 17;330(15):1448-1458. doi: 10.1001/jama.2023.18688. JAMA. 2023. PMID: 37768671 Free PMC article.
Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies.
Dou J, Bakulski K, Guo K, Hur J, Zhao L, Saez-Atienzar S, Stark A, Chia R, García-Redondo A, Rojas-Garcia R, Vázquez Costa JF, Fernandez Santiago R, Bandres-Ciga S, Gómez-Garre P, Periñán MT, Mir P, Pérez-Tur J, Cardona F, Menendez-Gonzalez M, Riancho J, Borrego-Hernández D, Galán-Dávila L, Infante Ceberio J, Pastor P, Paradas C, Dols-Icardo O, Traynor BJ, Feldman EL, Goutman SA; Spanish Neurological Consortium. Dou J, et al. Among authors: galan davila l. Neurol Genet. 2023 May 31;9(4):e200079. doi: 10.1212/NXG.0000000000200079. eCollection 2023 Aug. Neurol Genet. 2023. PMID: 37293291 Free PMC article.
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.
Case Report: Novel STIM1 Gain-of-Function Mutation in a Patient With TAM/STRMK and Immunological Involvement.
de la Fuente-Munoz E, Van Den Rym A, García-Solis B, Ochoa Grullón J, Guevara-Hoyer K, Fernández-Arquero M, Galán Dávila L, Matías-Guiú J, Sánchez-Ramón S, Pérez de Diego R. de la Fuente-Munoz E, et al. Among authors: galan davila l. Front Immunol. 2022 Jun 24;13:917601. doi: 10.3389/fimmu.2022.917601. eCollection 2022. Front Immunol. 2022. PMID: 35812399 Free PMC article.
Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to TWNK Mutations.
Bermejo-Guerrero L, de Fuenmayor-Fernández de la Hoz CP, Serrano-Lorenzo P, Blázquez-Encinar A, Gutiérrez-Gutiérrez G, Martínez-Vicente L, Galán-Dávila L, García-García J, Arenas J, Muelas N, Hernández-Laín A, Domínguez-González C, Martín MA. Bermejo-Guerrero L, et al. Among authors: galan davila l. J Clin Med. 2021 Dec 22;11(1):22. doi: 10.3390/jcm11010022. J Clin Med. 2021. PMID: 35011763 Free PMC article.
Red flags in patients with hereditary transthyretin amyloidosis at diagnosis in a non-endemic area of Spain.
Silva-Hernández L, Horga Hernández A, Valls Carbó A, Guerrero Sola A, Montalvo-Moraleda MT, Galán Dávila L. Silva-Hernández L, et al. Among authors: galan davila l. Neurologia (Engl Ed). 2020 Sep 4:S0213-4853(20)30212-7. doi: 10.1016/j.nrl.2020.06.009. Online ahead of print. Neurologia (Engl Ed). 2020. PMID: 32896462 Free article. English, Spanish.
16 results