Publicacions
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Cunha P, Petit E, Coutelier M, Coarelli G, Mariotti C, Faber J, Van Gaalen J, Damasio J, Fleszar Z, Tosi M, Rocca C, De Michele G, Minnerop M, Ewenczyk C, Santorelli FM, Heinzmann A, Bird T, Amprosi M, Indelicato E, Benussi A, Charles P, Stendel C, Romano S, Scarlato M, Le Ber I, Bassi MT, Serrano M, Schmitz-Hübsch T, Doss S, Van Velzen GAJ, Thomas Q, Trabacca A, Ortigoza-Escobar JD, D'Arrigo S, Timmann D, Pantaleoni C, Martinuzzi A, Besse-Pinot E, Marsili L, Cioffi E, Nicita F, Giorgetti A, Moroni I, Romaniello R, Casali C, Ponger P, Casari G, De Bot ST, Ristori G, Blumkin L, Borroni B, Goizet C, Marelli C, Boesch S, Anheim M, Filla A, Houlden H, Bertini E, Klopstock T, Synofzik M, Riant F, Zanni G, Magri S, Di Bella D, Nanetti L, Sequeiros J, Oliveira J, Van de Warrenburg B, Schöls L, Taroni F, Brice A and Durr A.
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias
AMERICAN JOURNAL OF HUMAN GENETICS . 110(7): 1098-1109. Nº de cites: 10
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Casas-Alba D, Aguilar A, Alonso I, García MT, Cilio MR and Fons-Estupina C.
Relationship Between Epileptic Activity and Developmental Outcome in KCNQ2-Related Epilepsy
PEDIATRIC NEUROLOGY . 144: 11-15.
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Muñoz-Pujol G, Ortigoza-Escobar JD, Paredes-Fuentes AJ, Jou-Munoz C, Ugarteburu O, Gort L, Yubero-Siles D, Garcia-Cazorla A, O'Callaghan-Gordo M, Campistol-Plana J, Muchart-Lopez J, Yépez VA, Gusic M, Gagneur J, Prokisch H, Artuch-Iriberri R, Ribes A, Urreizti R and Tort F.
Leigh syndrome is the main clinical characteristic of PTCD3 deficiency
BRAIN PATHOLOGY . 33(3): . Nº de cites: 5
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Soliani L, Alcalá-San Martin A, Balsells S, Hernando-Davalillo C and Ortigoza-Escobar JD.
Chromosome Microarray Analysis for the Investigation of Deletions in Pediatric Movement Disorders: A Systematic Review of the Literature
Movement Disorders Clinical Practice . 10(4): 547-557. Nº de cites: 1
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Ponce J, Cobo-Cobo T, Murillo C, Gonce A, Domínguez N, Crovetto F, Guirado L, Palacio-Navarro A and Mar Bennasar Sans.
Preterm Prelabour Rupture of Membranes before Viability in Twin Pregnancies: What Can We Expect?
Journal of Clinical Medicine . 12(8): . Nº de cites: 1
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Amato, ME, Ricart S, Vicente-Villa MA, Martorell-Sampol L, Armstrong-Moron J, Fernandez-Isern G, Mascaro, JM, Balsells S, Alonso, I, Serrano M and Ortigoza-Escobar JD.
Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report
clinical case reports . 11(4): . Nº de cites: 1
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Sourbron, J, Auvin, S, Arzimanoglou A, Cross, JH, Hartmann, H, Pressler, R, Riney, K, Sugai, K, Wilmshurst, JM, Yozawitz, E and Lagae, L.
Medical treatment in infants and young children with epilepsy: Off-label use of antiseizure medications. Survey Report of ILAE Task Force Medical Therapies in Children
Epilepsia Open . 8(1): 77-89. Nº de cites: 10
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Martín-Gómez C, Ortigoza-Escobar JD, Nou-Fontanet L, Molina-Linde JM, Bachoud-Lévi AC, Léger J and Blasco-Amaro JA.
Exploring the values, preferences, and information needs of patients with NKX2-1-related disorders: A qualitative study protocol
PLoS One . 18(2): .
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Becerra V, Hinojosa J, Candela-Cantó SA, Culebras D, Alamar AM, Armero-Campos G, Gastón Echaniz Barbero, Artés D, Munuera-del Cerro JL and Muchart-Lopez J.
The impact of 1.5-T intraoperative magnetic resonance imaging in pediatric tumor surgery: Safety, utility, and challenges
Frontiers in oncology . 12: 1021335-1021335. Nº de cites: 1
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Ortigoza-Escobar JD.
Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism
TREMOR AND OTHER HYPERKINETIC MOVEMENTS . 13: 36-36.