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Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.
Gonzalez-Quereda L, Rodriguez MJ, Diaz-Manera J, Alonso-Perez J, Gallardo E, Nascimento A, Ortez C, Natera-de Benito D, Olive M, Gonzalez-Mera L, Munain AL, Zulaica M, Poza JJ, Jerico I, Torne L, Riera P, Milisenda J, Sanchez A, Garrabou G, Llano I, Madruga-Garrido M, Gallano P. Gonzalez-Quereda L, et al. Among authors: milisenda j. Genes (Basel). 2020 May 11;11(5):539. doi: 10.3390/genes11050539. Genes (Basel). 2020. PMID: 32403337 Free PMC article.
Imbalance in mitochondrial dynamics and apoptosis in pregnancies among HIV-infected women on HAART with obstetric complications.
Guitart-Mampel M, Hernandez AS, Moren C, Catalan-Garcia M, Tobias E, Gonzalez-Casacuberta I, Juarez-Flores DL, Gatell JM, Cardellach F, Milisenda JC, Grau JM, Gratacos E, Figueras F, Garrabou G. Guitart-Mampel M, et al. J Antimicrob Chemother. 2017 Sep 1;72(9):2578-2586. doi: 10.1093/jac/dkx187. J Antimicrob Chemother. 2017. PMID: 28859443
Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies.
Natera-de Benito D, Foley AR, Domínguez-González C, Ortez C, Jain M, Mebrahtu A, Donkervoort S, Hu Y, Fink M, Yun P, Ogata T, Medina J, Vigo M, Meilleur KG, Leach ME, Dastgir J, Díaz-Manera J, Carrera-García L, Expósito-Escudero J, Alarcon M, Cuadras D, Montiel-Morillo E, Milisenda JC, Dominguez-Rubio R, Olivé M, Colomer J, Jou C, Jimenez-Mallebrera C, Bönnemann CG, Nascimento A. Natera-de Benito D, et al. Among authors: milisenda jc. Neurology. 2021 Mar 9;96(10):e1413-e1424. doi: 10.1212/WNL.0000000000011499. Epub 2021 Jan 13. Neurology. 2021. PMID: 33441455 Free PMC article.
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.
Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch R, Gallano P, Garrabou G, González JR, Grinberg D, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA, Beltran S; Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium. Bullich G, et al. J Mol Diagn. 2022 May;24(5):529-542. doi: 10.1016/j.jmoldx.2022.02.003. J Mol Diagn. 2022. PMID: 35569879 Free article.
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.
Nascimento A, Bruels CC, Donkervoort S, Foley AR, Codina A, Milisenda JC, Estrella EA, Li C, Pijuan J, Draper I, Hu Y, Stafki SA, Pais LS, Ganesh VS, O'Donnell-Luria A, Syeda SB, Carrera-García L, Expósito-Escudero J, Yubero D, Martorell L, Pinal-Fernandez I, Lidov HGW, Mammen AL, Grau-Junyent JM, Ortez C, Palau F, Ghosh PS, Darras BT, Jou C, Kunkel LM, Hoenicka J, Bönnemann CG, Kang PB, Natera-de Benito D. Nascimento A, et al. Among authors: milisenda jc. Acta Neuropathol. 2023 Apr;145(4):479-496. doi: 10.1007/s00401-023-02551-7. Epub 2023 Feb 17. Acta Neuropathol. 2023. PMID: 36799992 Free PMC article.
Mitochondrial DNA disturbances and deregulated expression of oxidative phosphorylation and mitochondrial fusion proteins in sporadic inclusion body myositis.
Catalán-García M, Garrabou G, Morén C, Guitart-Mampel M, Hernando A, Díaz-Ramos À, González-Casacuberta I, Juárez DL, Bañó M, Enrich-Bengoa J, Emperador S, Milisenda JC, Moreno P, Tobías E, Zorzano A, Montoya J, Cardellach F, Grau JM. Catalán-García M, et al. Among authors: milisenda jc. Clin Sci (Lond). 2016 Oct 1;130(19):1741-51. doi: 10.1042/CS20160080. Epub 2016 Jul 13. Clin Sci (Lond). 2016. PMID: 27413019
Mitochondrial toxicity and caspase activation in HIV pregnant women.
Hernandez S, Moren C, Catalán-García M, Lopez M, Guitart-Mampel M, Coll O, Garcia L, Milisenda J, Justamante A, Gatell JM, Cardellach F, Gratacos E, Miro Ò, Garrabou G. Hernandez S, et al. Among authors: milisenda j. J Cell Mol Med. 2017 Jan;21(1):26-34. doi: 10.1111/jcmm.12935. Epub 2016 Aug 30. J Cell Mol Med. 2017. PMID: 27577111 Free PMC article.
80 results