Publicacions
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De la Rosa SO, Rizzo V, Jauss RT, Bartolomaeus T, Escolar M, Bernard G, Gavrilova R, Ahrens-Nicklas R, Lemire G, Boycott KM, Mercimek-Andrews S, Prontera P, Costa C, Rakic B, Boerkoel CF, Huynh S, Huh L, Sherr E, Argilli E, Ortigoza-Escobar JD, Casas-Alba D, Nunes T, Koolen DA, Platzer K, Khinchi MS, Gardella E, Fenger CD, Møller RS and Bayat A.
MBOAT7 encephalopathy: Characterizing the neurology and epileptology.
Epilepsia . 66(7): 2379-2390.
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Wang T, Domínguez-Carral J, Ludlam WG, Segarra MJ, Marti MF, Bruining H, Martemyanov KA, Linkenkaer-Hansen K and Ortigoza-Escobar JD.
Neuronal oscillatory imbalances in GNAO1-related disorders associated with disease severity
Epilepsia . : .
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Karagianni MD, Schijns OEMG, Brotis A, Tasiou A, Auer C, Blauwblomme T, Budke M, Campos AR, Candela-Cantó SA, Clusmann H, Consales A, Cossu M, Delev D, Dorfer C, Dorfmüller G, Egge A, Eröss L, Ferrand-Sorbets S, Giordano F, Isler C, Ivanovic J, Kalbhenn T, Karppinen A, Koroknay-Pal P, Krayenbühl N, von Lehe M, Marras CE, Mavridis I, Nilsson D, Onken J, Raftopoulos C, Rizzi M, van Roost D, Rössler K, Roth J, Rumia J, Seromenho-Santos A, Sauvigny T, Scavarda D, Scheiwe C, Schaller K, Schuind S, Strauss I, Theys T, Uzan M and Fountas KN.
Anterior temporal lobectomy and selective AmygdaloHippocampectomy complications across Europe: review, meta-analysis, and Delphi consensus.
Brain and Spine . 5: 104304-104304.
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Lersch, R, Hartlieb, T, Pieper, T, Kudernatsch, M, Hofer, W, Barba, C, Guerrini, R, Giordano, F, Pommella, M, Schubert-Bast, S, Syrbe, S, Rego, R, Pinheiro, J, Feucht, M, Beck, A, Coras, R, Blumcke, I, Alber, M, Tacke, M, Rémi, J, Vollmar, C, Kunz, M, Shetty, J, Mclellan, A, Sokol, D, Kandasamy, J, Klotz, KA, San Antonio-Arce, V, Schulze-Bonhage, A, Pepper, J, Lo, WB, Arzimanoglou A, Francione, S, Braun, CJ and Borggraefe, I.
Seizure outcomes following epilepsy surgery in pediatric and young adult patients with high-grade brain tumors: Results from a European survey
Epilepsia . 66(6): 1865-1875.
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Granja-Dominguez A, Martin-Gomez C, Ortigoza-Escobar JD, Rodriguez-Lopez R, Gonzalez-Bermudez L, Dantone S, Pavanello S and Blasco-Amaro JA.
A proposal to involve people living with rare and complex conditions in the development of clinical practice guidelines
PATIENT EDUCATION AND COUNSELING . 135: 108708-108708.
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Michel K, Ruiz-Ramos, A, Nou-Fontanet, L, Martín-Gomez, C, Hidalgo, BC, Isabel-Gomez, R, Rosario-Lozano, MP, Rodriguez-Lopez, R, Wagner, TOF, Blasco-Amaro, JA, Griese, M and Ortigoza-Escobar JD.
Respiratory and other organ manifestations in NKX2-1-related disorders: a systematic review
Frontiers in Medicine . 12: .
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Moya-Mendez ME, Bidzimou MT, Muralidharan P, Zhang Z, Ezekian JE, Perelli RM, Parker LE, Prange L, Boggs A, Kim JJ, Howard TS, Word TA, Wehrens XHT, Reyes Valenzuela G, Caraballo R, Garone G, Vigevano F, Weckhuysen S, Millevert C, Troncoso M, Matamala M, Balestrini S, Sisodiya SM, Poole J, Zucca C, Panagiotakaki E, Papadopoulou MT, Tchaicha S, Zawadzka M, Mazurkiewicz-Beldzinska M, Fons-Estupina C, Anticona-Huaynate J, De Grandis E, Cordani R, Pisciotta L, Groppa S, Paryjas S, Ragona F, Mangia E, Granata T, Megvinov A, Pavlicek M, Ess K, Simmons CQ, George AL Jr, Vavassori R, Mikati MA and Landstrom AP.
ATP1A3 Variants, Variably Penetrant Short QT Intervals, and Lethal Ventricular Arrhythmias
JAMA PEDIATRICS . 179(5): 529-539. Nº de cites: 1
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Ghasemi, MR, Fateh, ST, Ben-Mahmoud, A, Gupta, V, Stühn, LG, Lesca, G, Chatron, N, Platzer, K, Edery, P, Sadeghi, H, Isidor, B, Cogné, B, Schulz, HL, Krauspe-Stübecke, I, Periyasamy, R, Nampoothiri, S, Mirfakhraie, R, Alijanpour, S, Syrbe, S, Pfeifer, U, Spranger, S, Grundmann-Hauser, K, Haack, TB, Papadopoulou, MT, Gonçalves, TD, Panagiotakaki, E, Arzimanoglou A, Tonekaboni, SH, Rossi, M, Korenke, GC, Lacassie, Y, Jang, MH, Layman, LC, Miryounesi, M and Kim, HG.
Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG)
AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 197(5): .
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Adler, S, D'Arco, F, Mankad, K, Kyncl, M, Arzimanoglou A and Marusic, P.
Harmonization of MRI sequences across ERN EpiCARE centers
Epilepsia Open . 10(2): 587-592.
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Valdiva, DP, Roldán, P, Manfrellotti, R, Gagliano, D, Mosteiro, A, Candela-Cantó SA, Ferrés, A, Gómez, L, Rumià, J, Prats-Galino, A, Villa, B, Di Somma, A and Ensenat, J.
Transorbital laser surgery for epilepsy: Anatomic-radiological feasibility of transorbital magnetic resonance imaging-guided laser interstitial thermal therapy (MRIgLITT) for amygdalohippocampectomy in refractory epilepsy
Clinical Neurology and Neurosurgery . 249: .