Publications
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Bladen CL, Thompson R, Jackson JM, Garland C, Wegel C, Ambrosini A, Pisano P, Walter MC, Schreiber O, Lusakowska A, Jedrzejowska M, Kostera-Pruszczyk A, van der Pol L, Wadman RI, Gredal O, Karaduman A, Topaloglu H, Yilmaz O, Matyushenko V, Rasic VM, Kosac A, Karcagi V, Garami M, Herczegfalvi A, Monges S, Moresco A, Chertkoff L, Chamova T, Guergueltcheva V, Butoianu N, Craiu D, Korngut L, Campbell C, Haberlova J, Strenkova J, Alejandro M, Jimenez A, Ortiz GG, Enriquez GV, Rodrigues M, Roxburgh R, Dawkins H, Youngs L, Lahdetie J, Angelkova N, Saugier-Veber P, Cuisset JM, Bloetzer C, Jeannet PY, Klein A, Nascimento-Osorio A, Tizzano E, Salgado D, Mercuri E, Sejersen T, Kirschner J, Rafferty K, Straub V, Bushby K, Verschuuren J, Beroud C and Lochmüller H.
Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe.
JOURNAL OF NEUROLOGY . 261(1): 152-163. Number of citations: 76
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Jou-Munoz C, Nascimento-Osorio A, Ortez-Gonzalez CI, Cusi V, Joan R. Corbera Torredeflò, Suñol M, Colomer J and Jimenez-Mallebrera C.
Late onset infantile Pompe's disease, variability in clinical and histophatological spectrum.
NEUROMUSCULAR DISORDERS . 23(9-10): 706-737.
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Paco-Mercader S, Kalko SG, Jou-Munoz C, Rodríguez MA, Corbera J, Muntoni F, Feng L, Rivas E, Torner-Rubies F, Gualandi F, Gomez-Foix AM, Ferrer A, Ortez-Gonzalez CI, Nascimento-Osorio A, Colomer J and Jimenez-Mallebrera C.
Gene Expression Profiling Identifies Molecular Pathways Associated with Collagen VI Deficiency and Provides Novel Therapeutic Targets
PLoS One . 8(10): . Number of citations: 22
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Febrer A, Vigo M, Rodriguez N, Medina J, Colomer J and Nascimento-Osorio A.
Fractures in spinal muscular atrophy
REVISTA DE NEUROLOGIA . 57(5): 207-211. Number of citations: 6
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Montero-Sanchez R, Grazina M, López-Gallardo E, Montoya J, Briones P, Navarro-Sastre A, Land JM, Hargreaves IP, Artuch-Iriberri R and Jimenez-Mallebrera C.
Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes
Mitochondrion . 13(4): 337-341. Number of citations: 49
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Juan-Mateu J, González-Quereda L, Rodríguez MJ, Verdura E, Lázaro K, Jou-Munoz C, Nascimento-Osorio A, Jimenez-Mallebrera C, Colomer J, Monges S, Lubieniecki F, Foncuberta ME, Pascual-Pascual SI, Molano J, Baiget M and Gallano P.
Interplay between DMD Point Mutations and Splicing Signals in Dystrophinopathy Phenotypes
PLoS One . 8(3): 59916. Number of citations: 42
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Jiménez E, Garcia-Cazorla A, Colomer J, Nascimento-Osorio A, Iriondo-Sanz M and Campistol-Plana J.
Hypotonia in the neonatal period: 12 years' experience
REVISTA DE NEUROLOGIA . 56(2): 72-78. Number of citations: 5
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Calpena E, Casado-Rio M, Martínez-Rubio D, Nascimento-Osorio A, Colomer J, Gargallo-Burriel E, Garcia-Cazorla A, Palau F, Artuch-Iriberri R and Espinós C.
5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes
JIMD Reports . 7: 123-128. Number of citations: 14
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Navarro-Sastre A, Tort F, Garcia-Villoria J, Pons MR, Nascimento-Osorio A, Colomer J, Campistol-Plana J, Yoldi ME, López-Gallardo E, Montoya J, Unceta M, Martinez MJ, Briones P and Ribes A.
Mitochondrial DNA depletion syndrome: New descriptions and the use of citrate synthase as a helpful tool to better characterise the patients
MOLECULAR GENETICS AND METABOLISM . 107(3): 409-415. Number of citations: 38
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Juan-Mateu J, Rodríguez MJ, Nascimento-Osorio A, Jimenez-Mallebrera C, González-Quereda L, Rivas E, Paradas C, Madruga M, Sánchez-Ayaso P, Jou-Munoz C, González-Mera L, Munell F, Roig-Quilis M, Rabasa M, Hernández-Lain A, Díaz-Manera J, Gallardo E, Pascual J, Verdura E, Colomer J, Baiget M, Olivé M and Gallano P.
Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy
ORPHANET JOURNAL OF RARE DISEASES . 7: 82-82. Number of citations: 42