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Page 1
[Disulfiram neuropathy. Report of 3 cases].
Bevilacqua JA, Díaz M, Díaz V, Silva C, Fruns M. Bevilacqua JA, et al. Rev Med Chil. 2002 Sep;130(9):1037-42. Rev Med Chil. 2002. PMID: 12434653 Spanish.
Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy.
Alonso-Jimenez A, Kroon RHMJM, Alejaldre-Monforte A, Nuñez-Peralta C, Horlings CGC, van Engelen BGM, Olivé M, González L, Verges-Gil E, Paradas C, Márquez C, Garibaldi M, Gallano P, Rodriguez MJ, Gonzalez-Quereda L, Dominguez Gonzalez C, Vissing J, Fornander F, Eisum AV, García-Sobrino T, Pardo J, García-Figueiras R, Muelas N, Vilchez JJ, Kapetanovic S, Tasca G, Monforte M, Ricci E, Gomez MT, Bevilacqua JA, Diaz-Jara J, Zamorano II, Carlier RY, Laforet P, Pelayo-Negro A, Ramos-Fransi A, Martínez A, Marini-Bettolo C, Straub V, Gutiérrez G, Stojkovic T, Martín MA, Morís G, Fernández-Torrón R, Lopez De Munaín A, Cortes-Vicente E, Querol L, Rojas-García R, Illa I, Diaz-Manera J. Alonso-Jimenez A, et al. Among authors: bevilacqua ja. J Neurol Neurosurg Psychiatry. 2019 May;90(5):576-585. doi: 10.1136/jnnp-2018-319578. Epub 2018 Dec 8. J Neurol Neurosurg Psychiatry. 2019. PMID: 30530568
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
Schiava M, Ikenaga C, Villar-Quiles RN, Caballero-Ávila M, Topf A, Nishino I, Kimonis V, Udd B, Schoser B, Zanoteli E, Souza PVS, Tasca G, Lloyd T, Lopez-de Munain A, Paradas C, Pegoraro E, Nadaj-Pakleza A, De Bleecker J, Badrising U, Alonso-Jiménez A, Kostera-Pruszczyk A, Miralles F, Shin JH, Bevilacqua JA, Olivé M, Vorgerd M, Kley R, Brady S, Williams T, Domínguez-González C, Papadimas GK, Warman-Chardon J, Claeys KG, de Visser M, Muelas N, LaForet P, Malfatti E, Alfano LN, Nair SS, Manousakis G, Kushlaf HA, Harms MB, Nance C, Ramos-Fransi A, Rodolico C, Hewamadduma C, Cetin H, García-García J, Pál E, Farrugia ME, Lamont PJ, Quinn C, Nedkova-Hristova V, Peric S, Luo S, Oldfors A, Taylor K, Ralston S, Stojkovic T, Weihl C, Diaz-Manera J; VCP International Study Group; VCP International Study Group. Schiava M, et al. Among authors: bevilacqua ja. J Neurol Neurosurg Psychiatry. 2022 Jul 27:jnnp-2022-328921. doi: 10.1136/jnnp-2022-328921. Online ahead of print. J Neurol Neurosurg Psychiatry. 2022. PMID: 35896379 Free PMC article.
Detection of gene variants associated with recessive limb-girdle muscular weakness and Pompe disease in a global cohort of patients through the application of next-generation sequencing analysis.
Bevilacqua JA, Al-Salti AM, Al Madani A, Alves da Fonseca A, Durmus H, Chai J, Alshehri A, Ribeiro MG, Sgobbi P, Nikitin SS, Vargas S, Furtado A, Thibault N, Araujo R, Daba N. Bevilacqua JA, et al. Front Genet. 2024 Nov 29;15:1477291. doi: 10.3389/fgene.2024.1477291. eCollection 2024. Front Genet. 2024. PMID: 39678382 Free PMC article.
A centronuclear myopathy-causing mutation in dynamin-2 disrupts neuronal morphology and excitatory synaptic transmission in a murine model of the disease.
Arriagada-Diaz J, Flores-Muñoz C, Gómez-Soto B, Labraña-Allende M, Mattar-Araos M, Prado-Vega L, Hinostroza F, Gajardo I, Guerra-Fernández MJ, Bevilacqua JA, Cárdenas AM, Bitoun M, Ardiles AO, Gonzalez-Jamett AM. Arriagada-Diaz J, et al. Among authors: bevilacqua ja. Neuropathol Appl Neurobiol. 2023 Aug;49(4):e12918. doi: 10.1111/nan.12918. Neuropathol Appl Neurobiol. 2023. PMID: 37317811
50 results