Publications
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López-Marquez A, Carrasco-López C, Martínez-Cano A, Lemoine P, Pierreux CE and Santisteban P.
Sox9 is involved in the thyroid differentiation program and is regulated by crosstalk between TSH, TGFß and thyroid transcription factors
SCIENTIFIC REPORTS . 12(1): 2144-2144. Number of citations: 7
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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: 10
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Dobaño C, Alonso S, Vidal M, Jiménez A, Rubio R, Santano R, Barrios D, Pons Tomas G, Melé Casas M, Hernández García M, Girona M, Puyol L, Baro B, Millat-Martínez P, Ajanovic S, Balanza N, Arias S, Rodrigo Melero N, Carolis C, García-Miquel A, Bonet-Carné E, Claverol J, Cubells M, Fortuny-Guasch C, Fumadó V, Codina-Bergadà A, Bassat Q, Munoz-Almagro C, Fernández de Sevilla-Estrach M, Gratacós E, Izquierdo L, García-García JJ, Aguilar R, Jordán-García I and Moncunill G.
Multiplex Antibody Analysis of IgM, IgA and IgG to SARS-CoV-2 in Saliva and Serum From Infected Children and Their Close Contacts
FRONTIERS IN IMMUNOLOGY . 13: 751705-751705. Number of citations: 17
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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: 4
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Girona M, Argüello G, Esteve-Solé A, Bobillo-Perez S, Paolo-Burgos X, Bonet E, Mensa-Vilaró A, Codina-Bergadà A, Hernández-Garcia M, Jou-Munoz C, Alsina L and Jordán-García I.
Low levels of CIITA and high levels of SOCS1 predict COVID-19 disease severity in children and adults
iScience . 25(1): 103595-103595. Number of citations: 3
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Estévez-Arias B, Carrera-García L, Nascimento-Osorio A, Cantarero-Abad L, Hoenicka J and Palau F.
Genetic approaches and pathogenic pathways in the clinical management of Charcot-Marie-Tooth disease
Journal of Translational Genetics and Genomics . 6(3): 333-352. Number of citations: 3
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López-Marquez A, Martínez-Pizarro A, Pérez B, Richard E and Desviat LR.
Modeling Splicing Variants Amenable to Antisense Therapy by Use of CRISPR-Cas9-Based Gene Editing in HepG2 Cells.
Methods In Molecular Biology (clifton, N.J.) . 2434: 167-184. Number of citations: 1
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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: 108
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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: 4
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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: 20