Publicacions
-
Nevado J, García-Miñaúr S, Palomares-Bralo M, Vallespín E, Guillén-Navarro E, Rosell J, Bel-Fenellós C, Mori MÁ, Milá M, Del Campo M, Barrúz P, Santos-Simarro F, Obregón G, Orellana C, Pachajoa H, Tenorio JA, Galán E, Cigudosa JC, Moresco A, Saleme C, Castillo S, Gabau E, Pérez-Jurado L, Barcia A, Martín MS, Mansilla E, Vallcorba I, García-Murillo P, Cammarata-Scalisi F, Gonçalves Pereira N, Blanco-Lago R, Serrano M, Ortigoza-Escobar JD, Gener B, Seidel VA, Tirado P and Lapunzina P.
Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals.
Frontiers in Genetics . 13: 652454-652454. Nº de cites: 25
-
Nguyen QTR, Ortigoza-Escobar JD, Burgunder JM, Mariotti C, Saft C, Hjermind LE, Youssov K, Landwehrmeyer GB and Bachoud-Lévi AC.
Combining Literature Review With a Ground Truth Approach for Diagnosing Huntington's Disease Phenocopy
FRONTIERS IN NEUROLOGY . 13: 817753-817753. Nº de cites: 3
-
Soliani L, Martorell-Sampol L, Yubero-Siles D, Verges C, Petit V and Ortigoza-Escobar JD.
Paroxysmal Non-Kinesigenic Dyskinesia: Utility of the Quantification of GLUT1 in Red Blood Cells
Movement Disorders Clinical Practice . 9(2): 252-254. Nº de cites: 1
-
Tamura N, Sakai S, Martorell-Sampol L, Colomé-Roura R, Mizuike A, Goto A, Ortigoza-Escobar JD and Hanada K.
Intellectual-disability-associated mutations in the ceramide transport protein gene CERT1 lead to aberrant function and subcellular distribution
JOURNAL OF BIOLOGICAL CHEMISTRY . 297(5): 101338-101338. Nº de cites: 11
-
Hikmat O, Isohanni P, Keshavan N, Ferla MP, Fassone E, Abbott MA, Bellusci M, Darin N, Dimmock D, Ghezzi D, Houlden H, Invernizzi F, Kamarus Jaman NB, Kurian MA, Morava E, Naess K, Ortigoza-Escobar JD, Parikh S, Pennisi A, Barcia G, Tylleskär KB, Brackman D, Wortmann SB, Taylor JC, Bindoff LA, Fellman V and Rahman S.
Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease
Annals of Clinical and Translational Neurology . 8(11): 2155-2165. Nº de cites: 12
-
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. Nº de cites: 9
-
Pijuan-Marquilles J, Ortigoza-Escobar JD, Juan Jairo Ortiz Guerra, Alcalá-San Martin A, Calvo MJ, Cubells M, Hernando-Davalillo C, Palau F and Hoenicka J.
PLXNA2 and LRRC40 as candidate genes in autism spectrum disorder
AUTISM RESEARCH . 14(6): 1088-1100. Nº de cites: 8
-
Marti-Sanchez L, Baide-Mairena H, Marcé-Grau A, Pons R, Skouma A, López-Laso E, Sigatullina M, Rizzo C, Semeraro M, Martinelli D, Carrozzo R, Dionisi-Vici C, LUIS GONZÁLEZ GUTIÉRREZ-SOLANA, Correa-Vela M, Ortigoza-Escobar JD, Sánchez-Montañez Á, Vazquez É, Delgado I, Aguilera-Albesa S, Yoldi ME, Ribes A, Tort F, Pollini L, Galosi S, Leuzzi V, Tolve M, Pérez-Gay L, Aldamiz-Echevarría L, Del Toro M, Arranz A, Roelens F, Urreizti R, Artuch-Iriberri R, Macaya A and Pérez-Dueñas B.
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene
JOURNAL OF INHERITED METABOLIC DISEASE . 44(2): 401-414. Nº de cites: 31
-
Reinhard C, Bachoud-Lévi AC, Bäumer T, Bertini E, Brunelle A, Buizer AI, Federico A, Gasser T, Groeschel S, Hermanns S, Klockgether T, Krägeloh-Mann I, Landwehrmeyer GB, Leber I, Macaya A, Mariotti C, Meissner WG, Molnar MJ, Nonnekes J, Ortigoza-Escobar JD, Pérez Dueñas B, Renna Linton L, Schöls L, Schuele R, Tijssen MAJ, Vandenberghe R, Volkmer A, Wolf NI and Graessner H.
The European Reference Network for Rare Neurological Diseases.
FRONTIERS IN NEUROLOGY . 11: 616569-616569. Nº de cites: 27
-
Ortigoza-Escobar JD.
A Proposed Diagnostic Algorithm for Inborn Errors of Metabolism Presenting With Movements Disorders.
FRONTIERS IN NEUROLOGY . 11: 582160-582160. Nº de cites: 12