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Page 1
MBOAT7 encephalopathy: Characterizing the neurology and epileptology.
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, Bayat A. De la Rosa SO, et al. Among authors: ortigoza escobar jd. Epilepsia. 2025 Mar 21. doi: 10.1111/epi.18376. Online ahead of print. Epilepsia. 2025. PMID: 40116760
A proposal to involve people living with rare and complex conditions in the development of clinical practice guidelines.
Granja-Dominguez A, Martin-Gomez C, Ortigoza-Escobar JD, Rodriguez-Lopez R, Gonzalez-Bermudez L, Dantone S, Pavanello S, Blasco-Amaro JA. Granja-Dominguez A, et al. Among authors: ortigoza escobar jd. Patient Educ Couns. 2025 Jun;135:108708. doi: 10.1016/j.pec.2025.108708. Epub 2025 Feb 19. Patient Educ Couns. 2025. PMID: 40010061 Free article. Review.
Biotin-Thiamine-Responsive Basal Ganglia Disease.
Tabarki B, Al-Hashem A, Ortigoza-Escobar JD, Alsharhan H, Alfadhel M. Tabarki B, et al. Among authors: ortigoza escobar jd. 2013 Nov 21 [updated 2025 Jan 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2013 Nov 21 [updated 2025 Jan 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 24260777 Free Books & Documents. Review.
Dystonia caused by ANO3 variants is due to attenuated Ca2+ influx by ORAI1.
Ousingsawat J, Talbi K, Gómez-Martín H, Koy A, Fernández-Jaén A, Tekgül H, Serdaroğlu E, Ortigoza-Escobar JD, Schreiber R, Kunzelmann K. Ousingsawat J, et al. Among authors: ortigoza escobar jd. BMC Med. 2025 Jan 7;23(1):12. doi: 10.1186/s12916-024-03839-5. BMC Med. 2025. PMID: 39773217 Free PMC article.
Systematic review of thyroid function in NKX2-1-related disorders: Treatment and follow-up.
Carmona-Hidalgo B, Herrera-Ramos E, Rodríguez-López R, Nou-Fontanet L, C Moreno J, Blasco-Amaro JA, Léger J, Ortigoza-Escobar JD; NKX2-1-Related Disorders Guideline Working Group. Carmona-Hidalgo B, et al. Among authors: ortigoza escobar jd. PLoS One. 2024 Oct 28;19(10):e0309064. doi: 10.1371/journal.pone.0309064. eCollection 2024. PLoS One. 2024. PMID: 39466809 Free PMC article.
Developmental and epileptic encephalopathy 56 due to YWHAG variants: 12 new cases and review of the literature.
Amato ME, Balsells S, Martorell L, Alcalá San Martín 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, Ortigoza-Escobar JD. Amato ME, et al. Among authors: ortigoza escobar jd. Eur J Paediatr Neurol. 2024 Nov;53:63-72. doi: 10.1016/j.ejpn.2024.10.005. Epub 2024 Oct 9. Eur J Paediatr Neurol. 2024. PMID: 39413657
79 results