Publicacions
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Ortigoza-Escobar JD, Zamani M, Dorison N, Sadeghian S, Azizimalamiri R, Alvi JR, Sultan T, Galehdari H, Shariati G, Saberi A, Leeuwen L, Zifarelli G, Bauer P, d'Hardemare V, Doummar D, Roze E, Travaglini L, Nicita F, Ojea Ponce N, Zahraei SM, Alabdi L, Tamim A, Hashem MO, Ababneh F, Morrow MM, Curry C, Tam A, Ruedy J, Bhambhani V, Veith R, Strømme P, Efthymiou S, Alkuraya FS, Moreno-De-Luca A, Burglen L, Houlden H and Maroofian R.
Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders.
MOVEMENT DISORDERS . 39(9): 1624-1630.
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Moya Quiros V, Adham A, Convers P, Lesca G, Mauguiere F, Soulier H, Arzimanoglou A, Bayat A, Braakman H, Camdessanche JP, Casenave P, Chaton L, Chaix Y, Chochoi M, Depienne C, Desportes V, De Ridder J, Dinkelacker V, Gardella E, Kluger GJ, Jung J, Lemesle Martin M, Mancardi MM, Mueller M, Poulat AL, Platzer K, Roubertie A, Stokman MF, Vulto-van Silfhout AT, Wiegand G and Mazzola L.
Electro-Clinical Features and Functional Connectivity Analysis in SYN1-Related Epilepsy
ANNALS OF NEUROLOGY . : .
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Rots, D, Choufani, S, Faundes, V, Dingemans, AJM, Joss, S, Foulds, N, Jones, EA, Stewart, S, Vasudevan, P, Dabir, T, Park, SM, Jewell, R, Brown, N, Pais, L, Jacquemont, S, Jizi, K, van Ravenswaaij-Arts, CMA, Kroes, HY, Stumpel, CTRM, Ockeloen, CW, Diets, IJ, Nizon, M, Vincent, M, Cogne, B, Besnard, T, Kambouris, M, Anderson, E, Zackai, EH, McDougall, C, Donoghue, S, O'Donnell-Luria, A, Valivullah, Z, O'Leary, M, Srivastava, S, Byers, H, Leslie, N, Mazzola, S, Tiller, GE, Vera, M, Shen, JJ, Boles, R, Jain, V, Brischoux-Boucher, E, Kinning, E, Simpson, BN, Giltay, JC, Harris, J, Keren, B, Guimier, A, Marijon, P, de Vries, BBA, Motter, CS, Mendelsohn, BA, Coffino, S, Gerkes, EH, Afenjar, A, Visconti, P, Bacchelli, E, Maestrini, E, Delahaye-Duriez, A, Gooch, C, Hendriks, Y, Adams, H, Thauvin-Robinet, C, Josephi-Taylor, S, Bertoli, M, Parker, MJ, Rutten, JW, Caluseriu, O, Vernon, HJ, Kaziyev, J, Zhu, J, Kremen, J, Frazier, Z, Osika, H, Breault, D, Nair, S, Lewis, SME, Ceroni, F, Viggiano, M, Posar, A, Brittain, H, Giovanna, T, Giulia, G, Quteineh, L, Leuchter, RHV, Zonneveld-Huijssoon, E, Mellado, C, Marey, I, Coudert, A, Alvarez, MIA, Kennis, MGP, Bouman, A, Roifman, M, Rodríguez, MIA, Ortigoza-Escobar JD, Vernimmen, V, Sinnema, M, Pfundt, R, Brunner, HG, Vissers, LELM, Kleefstra, T, Weksberg, R and Banka, S.
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes
AMERICAN JOURNAL OF HUMAN GENETICS . 111(8): 1626-1642. Nº de cites: 1
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Carmona-Hidalgo, B, Martín-Gómez, C, Herrera-Ramos, E, Rodríguez-López, R, Fontanet, LN, Moreno, JC, Blasco-Amaro, JA, Léger, J and Ortigoza-Escobar JD.
Systematic review of thyroid function in NKX2-1-related disorders: Screening and diagnosis
PLoS One . 19(7): .
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Nou-Fontanet L, Nguyen QTR, Bachoud-Levi AC, Reinhard C and Ortigoza-Escobar JD.
Insights from European Reference Network for rare neurological disorders study surveys on diagnosis, treatment, and management of NKX2-1-related disorders.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 51: 110-117.
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Villafuerte, B, Carrasco-López, C, Herranz, A, Garzón, L, Simón, R, Natera-de Benito D, Alikhani, P, Tenorio, J, Garcia-Santiago, F, Solis, M, del-Pozo, A, Lapunzina, P, Ortigoza-Escobar JD, Santisteban, P and Moreno, JC.
A Novel Missense Variant in the NKX2-1 Homeodomain Prevents Transcriptional Rescue by TAZ
THYROID . 34(7): 942-948.
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Candela-Cantó SA, Hinojosa J, Muchart-Lopez J, Jou-Munoz C, Palau, L, Carlos Valera Dávila, Flores, C, Palacio-Navarro A, Climent MA, Pascual, A, González, A, Culebras, D, Alamar AM, Becerra, V, Aparicio J and Rumiá, J.
Temporo-Parieto-Occipital Disconnection by Robot-Assisted Magnetic Resonance Imaging-Guided Laser Interstitial Thermal Therapy for Refractory Epilepsy in a Pediatric Patient: Proof-of-Principle Case Report and Surgical Nuances
WORLD NEUROSURGERY . 187: 124-132.
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Nou-Fontanet L, Marti-Sanchez L, Martorell-Sampol L, Casas J and Ortigoza-Escobar JD.
Atypical Mowat-Wilson Syndrome: Dystonia, Choreoathetosis and Cognitive Features.
Movement Disorders Clinical Practice . 11(7): 889-893.
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Lasa-Aranzasti, A, Larasati, YA, Cardoso, JD, Solis, GP, Koval, A, Cazurro-Gutiérrez, A, Ortigoza-Escobar JD, Miranda, MC, De la Casa-Fages, B, Moreno-Galdó, A, Tizzano, EF, Gómez-Andrés, D, Verdura, E, Katanaev, VL and Pérez-Dueñas, B.
Clinical and Molecular Profiling in GNAO1 Permits Phenotype-Genotype Correlation
MOVEMENT DISORDERS . : . Nº de cites: 3
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Barbera, Anna Revert, Martorell, Loreto, Boix Lluch C, Armstrong-Moron J, Carrera, Laura, Nascimento-Osorio A and Ortigoza-Escobar JD.
Clinical Response of Levodopa in CTNNB1 -Related Dystonia
Journal of Pediatric Neurology . : .