Publications
-
Kölker S, Valayannopoulos V, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Baric I, Karall D, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Boy SP, Rasmussen MB, Burgard P, Chabrol B, Chakrapani A, Chapman K, Cortès I Saladelafont E, Couce ML, de Meirleir L, Dobbelaere D, Furlan F, Gleich F, González MJ, Gradowska W, Grünewald S, Honzik T, Hörster F, Ioannou H, Jalan A, Häberle J, Haege G, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, Murphy E, de Baulny HO, Ortez-Gonzalez CI, Pedrón CC, Pintos-Morell G, Pena-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Lund AM and Garcia-Cazorla A.
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
JOURNAL OF INHERITED METABOLIC DISEASE . 38(6): 1059-1074. Number of citations: 158
-
Juan-Mateu J, Gonzalez-Quereda L, Rodriguez MJ, Baena M, Verdura E, Nascimento-Osorio A, Ortez-Gonzalez CI, Baiget M and Gallano P.
DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations
PLoS One . 10(8): . Number of citations: 79
-
Ortez-Gonzalez CI, Duarte ST, Ormazabal-Herrero A, Serrano M, Pérez A, Pons R, Pineda M, Yapici Z, Fernández-Alvarez E, Domingo-Jiménez R, De Castro P, Artuch-Iriberri R and Garcia-Cazorla A.
Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxylase deficiency
MOLECULAR GENETICS AND METABOLISM . 114(1): 34-40. Number of citations: 13
-
Rodrigues F, Grenha J, Ortez-Gonzalez CI, Nascimento-Osorio A, Morte B, M-Belinchón M, Armstrong-Moron J and Colomer J.
Hypotonic male infant and MCT8 deficiency - a diagnosis to think about
BMC PEDIATRICS . 14: 252-252. Number of citations: 15
-
Kalko SG, Paco-Mercader S, Jou-Munoz C, Rodríguez MA, Meznaric M, Rogac M, Jekovec-Vrhovsek M, Sciacco M, Moggio M, Fagiolari G, De Paepe B, De Meirleir L, Ferrer I, Roig-Quilis M, Munell F, Montoya J, López-Gallardo E, Ruiz-Pesini E, Artuch-Iriberri R, Montero-Sanchez R, Torner-Rubies F, Nascimento-Osorio A, Ortez-Gonzalez CI, Colomer J and Jimenez-Mallebrera C.
Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies
BMC Genomics . 15: 91-91. Number of citations: 100
-
Ortez-Gonzalez CI, Jou-Munoz C, Cortés-Saladelafont E, Moreno J, Pérez A, Ormazabal-Herrero A, Pérez-Cerdá C, Pérez B, Artuch-Iriberri R, Cusi V and Garcia-Cazorla A.
Infantile parkinsonism and gabaergic hypotransmission in a patient with pyruvate carboxylase deficiency
Gene . 532(2): 302-306. Number of citations: 12
-
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.
-
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: 19
-
Duarte ST, Armstrong-Moron J, Roche-Martinez A, Ortez-Gonzalez CI, Pérez A, O'Callaghan-Gordo M, Pereira A, Sanmartí F, Ormazabal-Herrero A, Artuch-Iriberri R, Pineda M and Garcia-Cazorla A.
Abnormal Expression of Cerebrospinal Fluid Cation Chloride Cotransporters in Patients with Rett Syndrome
PLoS One . 8(7): . Number of citations: 60
-
Molero M, Serrano M, Ormazabal-Herrero A, Pérez-Dueñas B, Garcia-Cazorla A, Pons R and Artuch-Iriberri R.
Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 55(6): 559-566. Number of citations: 37