Publications
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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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Maroofian R, Ortigoza-Escobar JD, Rohilla P, Alvi JR, Mushiba AM, Almontashiri NAM, Efthymiou S, Sultan T, Balla T and Houlden H.
Recessive Loss of PI4K2A Function Causes a Developmental and Epileptic Dyskinetic Encephalopathy with Prominent Orolingual Dyskinesia.
MOVEMENT DISORDERS . 40(10): 2243-2250.
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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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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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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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Ousingsawat J, Talbi K, Gómez-Martín H, Koy A, Fernández-Jaén A, Tekgül H, Serdaroglu E, Ortigoza-Escobar JD, Schreiber R and Kunzelmann K.
Dystonia caused by ANO3 variants is due to attenuated Ca2+ influx by ORAI1
BMC MEDICINE . 23(1): 12-12. Number of citations: 1
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Julià-Palacios NA, Muñoz-Pujol, G, Maroofian, R, Bertoli-Avella, AM, Gómez-Chiari M, Muchart-Lopez J, Paredes-Fuentes, AJ, O'Callaghan-Gordo M, Machado-Casas, IS, Cristian, I, Morrison, J, Garcia-Cazorla A, Codina-Bergadà A, Miryounesi, M, Zonic, E, Bauer, P, Cheema, H, Anjum, MN, Al-Sannaa, N, Abd Elmaksoud, M, Ababneh, F, Alijanpour, S, Tonekaboni, SH, Fayazi, A, Urbaniak, M, Barba, U, Hoenicka J, Palau F, Houlden, H, Ortigoza-Escobar JD, Ribes, A, Santos-Ocaña, C, Tyler, M, Gaffney, P, Carroll, CJ, Tort, F, Wierenga, KJ, Webb, BD, Artuch-Iriberri R, Baide HS and Urreizti R.
Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases
brain communications . 7(5): .
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Neugebauer J, Reinson K, Bellusci M, Park JH, Hikmat O, Bertini E, Schiff M and Rahman S.
Current global vitamin and cofactor prescribing practices for primary mitochondrial diseases: Results of a European reference network survey.
JOURNAL OF INHERITED METABOLIC DISEASE . 48(1): . Number of citations: 1
