Publicaciones
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Nou-Fontanet L, Ousingsawat J, Aziz M, Maroofian R, Karimiani EG, Fernández-López A, Candela-Cantó SA, Rumià J, Dominguez AM, Schreiber R, Kunzelmann K and Ortigoza-Escobar JD.
Case Report of Pediatric HPCA-Associated Dystonia: Analysis of Ca(2+) and K(+) Channel Dynamics and Experience With Pallidal Deep Brain Stimulation.
PEDIATRIC NEUROLOGY . 172: 46-52.
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Rodriguez H, Nou-Fontanet L, Ormazabal-Herrero A, Casado-Rio M, Arias AY, Pias-Peleteiro LD, Gutierrez A, Perera A, Garcia-Cazorla A, Fons-Estupina C and Artuch-Iriberri R.
Cerebrospinal amino acid profiling in a large cohort of neuropediatric patients with epilepsy
NEUROBIOLOGY OF DISEASE . 216: 107098-107098.
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Domínguez-Carral J, Reinhard C, Soliani L, Cif L and Ortigoza-Escobar JD.
Exploring the Impact of Dyskinetic Crises in GNAO1-Related Disorders: A Survey for Parents and Caregivers.
Movement Disorders Clinical Practice . 12(10): 1615-1621.
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Nou-Fontanet L, Musokhranova U, Ramírez-Camacho A, Delgadillo V, Insuga VS, Fernández LA, Alonso-Colmenero I, Arzimanoglou A, Garcia-Cazorla A, De Oyarzabal-Sanz AL and Fons-Estupina C.
AFG2A-related encephalopathy: Effectiveness of ketogenic diet in epilepsy and mitochondrial dynamics modulation
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 58: 20-26. Nº de citas: 1
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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: .
