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Genetic diagnosis of basal ganglia disease in childhood.
Baide-Mairena H, Marti-Sánchez L, Marcé-Grau A, Cazurro-Gutiérrez A, Sanchez-Montanez A, Delgado I, Moreno-Galdó A, Macaya-Ruiz A, García-Arumí E, Pérez-Dueñas B; Childhood Basal Ganglia Disease Group. Baide-Mairena H, et al. Dev Med Child Neurol. 2022 Jun;64(6):743-752. doi: 10.1111/dmcn.15125. Epub 2022 Jan 5. Dev Med Child Neurol. 2022. PMID: 34988976 Free article.
Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.
Hamilton EM, Polder E, Vanderver A, Naidu S, Schiffmann R, Fisher K, Raguž AB, Blumkin L; H-ABC Research Group; van Berkel CG, Waisfisz Q, Simons C, Taft RJ, Abbink TE, Wolf NI, van der Knaap MS. Hamilton EM, et al. Brain. 2014 Jul;137(Pt 7):1921-30. doi: 10.1093/brain/awu110. Epub 2014 Apr 30. Brain. 2014. PMID: 24785942 Free PMC article.
Treatment of genetic defects of thiamine transport and metabolism.
Ortigoza-Escobar JD, Molero-Luis M, Arias A, Martí-Sánchez L, Rodriguez-Pombo P, Artuch R, Pérez-Dueñas B. Ortigoza-Escobar JD, et al. Expert Rev Neurother. 2016 Jul;16(7):755-63. doi: 10.1080/14737175.2016.1187562. Epub 2016 May 23. Expert Rev Neurother. 2016. PMID: 27191787 Review.
Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.
Yubero D, Montero R, Martín MA, Montoya J, Ribes A, Grazina M, Trevisson E, Rodriguez-Aguilera JC, Hargreaves IP, Salviati L, Navas P, Artuch R; CoQ deficiency study group; Jou C, Jimenez-Mallebrera C, Nascimento A, Pérez-Dueñas B, Ortez C, Ramos F, Colomer J, O'Callaghan M, Pineda M, García-Cazorla A, Espinós C, Ruiz A, Macaya A, Marcé-Grau A, Garcia-Villoria J, Arias A, Emperador S, Ruiz-Pesini E, Lopez-Gallardo E, Neergheen V, Simões M, Diogo L, Blázquez A, González-Quintana A, Delmiro A, Domínguez-González C, Arenas J, García-Silva MT, Martín E, Quijada P, Hernández-Laín A, Morán M, Rivas Infante E, Ávila Polo R, Paradas Lópe C, Bautista Lorite J, Martínez Fernández EM, Cortés AB, Sánchez-Cuesta A, Cascajo MV, Alcázar M, Brea-Calvo G. Yubero D, et al. Mitochondrion. 2016 Sep;30:51-8. doi: 10.1016/j.mito.2016.06.007. Epub 2016 Jun 30. Mitochondrion. 2016. PMID: 27374853
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.
Rice GI, Kitabayashi N, Barth M, Briggs TA, Burton ACE, Carpanelli ML, Cerisola AM, Colson C, Dale RC, Danti FR, Darin N, De Azua B, De Giorgis V, De Goede CGL, Desguerre I, De Laet C, Eslahi A, Fahey MC, Fallon P, Fay A, Fazzi E, Gorman MP, Gowrinathan NR, Hully M, Kurian MA, Leboucq N, Lin JS, Lines MA, Mar SS, Maroofian R, Martí-Sanchez L, McCullagh G, Mojarrad M, Narayanan V, Orcesi S, Ortigoza-Escobar JD, Pérez-Dueñas B, Petit F, Ramsey KM, Rasmussen M, Rivier F, Rodríguez-Pombo P, Roubertie A, Stödberg TI, Toosi MB, Toutain A, Uettwiller F, Ulrick N, Vanderver A, Waldman A, Livingston JH, Crow YJ. Rice GI, et al. Neuropediatrics. 2017 Jun;48(3):166-184. doi: 10.1055/s-0037-1601449. Epub 2017 Apr 10. Neuropediatrics. 2017. PMID: 28561207 Free PMC article.
Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study.
Darling A, Tello C, Martí MJ, Garrido C, Aguilera-Albesa S, Tomás Vila M, Gastón I, Madruga M, González Gutiérrez L, Ramos Lizana J, Pujol M, Gavilán Iglesias T, Tustin K, Lin JP, Zorzi G, Nardocci N, Martorell L, Lorenzo Sanz G, Gutiérrez F, García PJ, Vela L, Hernández Lahoz C, Ortigoza Escobar JD, Martí Sánchez L, Moreira F, Coelho M, Correia Guedes L, Castro Caldas A, Ferreira J, Pires P, Costa C, Rego P, Magalhães M, Stamelou M, Cuadras Pallejà D, Rodríguez-Blazquez C, Martínez-Martín P, Lupo V, Stefanis L, Pons R, Espinós C, Temudo T, Pérez Dueñas B. Darling A, et al. Mov Disord. 2017 Nov;32(11):1620-1630. doi: 10.1002/mds.27129. Epub 2017 Aug 28. Mov Disord. 2017. PMID: 28845923 Free article.
Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood.
Baide-Mairena H, Gaudó P, Marti-Sánchez L, Emperador S, Sánchez-Montanez A, Alonso-Luengo O, Correa M, Grau AM, Ortigoza-Escobar JD, Artuch R, Vázquez E, Del Toro M, Garrido-Pérez N, Ruiz-Pesini E, Montoya J, Bayona-Bafaluy MP, Pérez-Dueñas B. Baide-Mairena H, et al. Mol Genet Metab. 2019 Mar;126(3):250-258. doi: 10.1016/j.ymgme.2019.01.001. Epub 2019 Jan 5. Mol Genet Metab. 2019. PMID: 30642748 Review.
152 results