Publications
-
Hernández-Ainsa C, Nascimento-Osorio A, Jou-Munoz C, Artuch-Iriberri R, Montoya C, Ruiz-Pesini E and Emperador S.
Generation of an induced pluripotent stem cell line from a compound heterozygous patient in TK2 gene
STEM CELL RESEARCH . 59: 102632-102632.
-
Pijuan-Marquilles J, Cantarero-Abad L, Natera-de Benito D, Altimir A, Altisent A, Díaz-Osorio Y, Carrera-García L, Exposito-Escudero JM, Ortez-Gonzalez CI, Nascimento-Osorio A, Hoenicka J and Palau F.
Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases
FRONTIERS IN NEUROSCIENCE . 16: 784880-784880. Number of citations: 7
-
Parasyri, M, Brandstroem, P, Uusimaa, J, Ostergaard, E, Hikmat, O, Isohanni, P, Naess, K, de Coo, IFM, Nascimento-Osorio A, Nuutinen, M, Lindberg, C, Bindoff, LA, Tulinius, M, Darin, N and Sofou, K.
Renal Phenotype in Mitochondrial Diseases: A Multicenter Study
Kidney Diseases . : 148-159. Number of citations: 1
-
Mercuri E, Deconinck N, Mazzone ES, Nascimento-Osorio A, Oskoui M, Saito K, Vuillerot C, Baranello G, Boespflug-Tanguy O, Goemans N, Kirschner J, Kostera-Pruszczyk A, Servais L, Gerber M, Gorni K, Khwaja O, Kletzl H, Scalco RS, Staunton H, Yeung WY, Martin C, Fontoura P, Day JW and SUNFISH Study Group.
Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2) : a phase 3, double-blind, randomised, placebo-controlled trial
LANCET NEUROLOGY . 21(1): 42-52. Number of citations: 78
-
Bertrán K, Sans-Capdevila O, Nascimento-Osorio A, Ortez-Gonzalez CI, Natera-de Benito D and Iranzo de Riquer A.
Sleep breathing disorders in pediatric patients with spinal muscular atrophy 2
SLEEP MEDICINE . 89: 85-89. Number of citations: 2
-
Molera C, Sarishvili T, Nascimento-Osorio A, Rtskhiladze I, Muñoz Bartolo G, Fernández Cebrián S, Valverde Fernández J, Muñoz Cabello B, Graham RJ, Miller W, Sepulveda B, Kamath BM, Meng H and Lawlor MW.
Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report
Journal of neuromuscular diseases . 9(1): 73-82. Number of citations: 10
-
Domínguez-González C, Madruga-Garrido M, Hirano M, Martí I, Martín MA, Munell F, Nascimento-Osorio A, Olivé M, Quan J, Sardina MD, Martí R and Paradas C.
Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency.
ORPHANET JOURNAL OF RARE DISEASES . 16(1): 407-407. Number of citations: 2
-
Bellusci M, Paredes-Fuentes AJ, Ruiz-Pesini E, Gómez B, Martín MA, Montoya J and Artuch-Iriberri R.
The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call
GENES . 12(10): 1590. Number of citations: 8
-
Trifunov S, Paredes-Fuentes AJ, Badosa-Gallego MC, Codina-Bergadà A, Montoya C, Ruiz-Pesini E, Jou-Munoz C, Garrabou G, Grau-Junyent JM, Yubero-Siles D, Montero-Sanchez R, Muchart-Lopez J, Ortigoza-Escobar JD, O'Callaghan-Gordo M, Nascimento-Osorio A, Català-Temprano A, Garcia-Cazorla A, Jimenez-Mallebrera C and Artuch-Iriberri R.
Circulating Cell-Free Mitochondrial DNA in Cerebrospinal Fluid as a Biomarker for Mitochondrial Diseases
CLINICAL CHEMISTRY . 67(8): 1113-1121. Number of citations: 6
-
Alonso-Jiménez A, Fernández-Simón E, Natera-de Benito D, Ortez-Gonzalez CI, García C, Montiel E, Belmonte I, Pedrosa I, Segovia S, Piñol-Jurado P, Carrasco-Rozas A, Suárez-Calvet X, Jimenez-Mallebrera C, Nascimento-Osorio A, Llauger J, Nuñez-Peralta C, Montesinos P, Alonso-Pérez J, Gallardo E, Illa I and Díaz-Manera J.
Platelet Derived Growth Factor-AA Correlates With Muscle Function Tests and Quantitative Muscle Magnetic Resonance in Dystrophinopathies
FRONTIERS IN NEUROLOGY . 12: 659922-659922. Number of citations: 4