Publications
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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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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 . : .
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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, Munoz-Pujol, Gerard, Maroofian, Reza, Bertoli-Avella, Aida M, Gómez-Chiari M, Muchart-Lopez J, Paredes-Fuentes, Abraham J, O'Callaghan-Gordo M, Machado-Casas, Irene S, Cristian, Ingrid, Morrison, Jennifer, Garcia-Cazorla A, Codina-Bergadà A, Miryounesi, Mohammad, Zonic, Emir, Bauer, Peter, Cheema, Huma, Anjum, Muhammad Nadeem, Al-Sannaa, Nouriya, Abd Elmaksoud, Marwa, Ababneh, Faroug, Alijanpour, Sahar, Tonekaboni, Seyed Hassan, Fayazi, Afshin, Urbaniak, Maria, Barba, Uxia, Hoenicka J, Palau F, Houlden, Henry, Ortigoza-Escobar JD, Ribes, Antonia, Santos-Ocana, Carlos, Tyler, Millie, Gaffney, Patrick, Carroll, Christopher J, Tort, Frederic, Wierenga, Klaas J, Webb, Bryn D, Artuch-Iriberri R, Baide-Mairena, Heidy 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
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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 . 22(06): 466-469.
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Amato ME, Balsells S, Martorell-Sampol L, Alcalá-San Martin A, Ansell K, Børresen ML, Johnson H, Korff C, Garcia-Tarodo S, Lefranc J, Denommé-Pichon AS, Sarrazin E, Szabo NZ, Saraiva JM, Wicher D, Goverde A, Bindels-de Heus KGCB, Barakat TS and Ortigoza-Escobar JD.
Developmental and epileptic encephalopathy 56 due to YWHAG variants: 12 new cases and review of the literature
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 53: 63-72. Number of citations: 3
