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Aicardi-Goutières syndrome type 6: report of ADAR variant and clinical outcome after ruxolitinib treatment in the neonatal period.
Gabaldon-Albero A, Martin-Grau C, Marti-Masanet M, Lopez-Jimenez A, Llorens R, Beseler-Soto B, Martin-Zamora S, Lopez B, Calvo I, Hernandez-Muela S, Rosello M, Orellana C, Martinez F. Gabaldon-Albero A, et al. Among authors: orellana c. Pediatr Rheumatol Online J. 2024 Dec 28;22(1):110. doi: 10.1186/s12969-024-01036-5. Pediatr Rheumatol Online J. 2024. PMID: 39732715 Free PMC article.
Use of glucagon-like peptide type 1 receptor agonists in kidney transplant recipients.
Vigara LA, Villanego F, Orellana C, Eady M, Sánchez MG, Alonso M, García MB, Amaro JM, García T, Mazuecos A. Vigara LA, et al. Among authors: orellana c. Nefrologia (Engl Ed). 2024 Nov-Dec;44(6):885-893. doi: 10.1016/j.nefroe.2024.11.007. Epub 2024 Dec 6. Nefrologia (Engl Ed). 2024. PMID: 39645509 Free article.
Trust in government moderates the association between fear of COVID-19 as well as empathic concern and preventive behaviour.
Karakulak A, Tepe B, Dimitrova R, Abdelrahman M, Akaliyski P, Alaseel R, Alkamali YA, Amin A, Lizarzaburu Aguinaga DA, Andres A, Aruta JJBR, Assiotis M, Avanesyan H, Ayub N, Bacikova-Sleskova M, Baikanova R, Bakkar B, Bartoluci S, Benitez D, Bodnar I, Bolatov A, Borchet J, Bosnar K, Broche-Pérez Y, Buzea C, Cassibba R, Carbonell MM, Chen BB, Dimitrovska GR, Công Doanh D, Dominguez Espinosa ADC, Edine WG, Ferenczi N, Fernández-Morales R, Gaete J, Gan Y, Giolo S, Giordani RCF, Friehs MT, Gindi S, Gjoneska B, Godoy JC, Del Pilar Grazioso M, Hancheva C, Hapunda G, Hihara S, Husain MS, Islam MS, Janovská A, Javakhishvili N, Jovanović V, Kabir RS, Abdul Kadir NB, Karl J, Katović D, Kauyzbay Z, Kawashima TD, Kazmierczak M, Khanna R, Khosla M, Klicperová-Baker M, Kozina A, Krauss SE, Landabur R, Lefringhausen K, Lewandowska-Walter A, Liang YH, Makashvili A, Malik S, Manrique-Millones D, Mastrotheodoros S, McGrath B, Mechili EA, Mejía M, Mhizha S, Michalek-Kwiecien J, Miconi D, Mohsen F, Moreta-Herrera R, Muhl C, Muradyan M, Musso P, Naterer A, Nemat A, Neto F, Neto J, Palacio LMA, Okati-Aliabad H, Orellana CI, Orellana LM, Mishra SK, Park J, Pavlova I, Peralta E, Petrytsa P, Pišot … See abstract for full author list ➔ Karakulak A, et al. Among authors: orellana ci. Commun Psychol. 2023 Dec 15;1(1):43. doi: 10.1038/s44271-023-00046-5. Commun Psychol. 2023. PMID: 39242865 Free PMC article.
New variants expand the neurological phenotype of COQ7 deficiency.
Fabra MA, Paredes-Fuentes AJ, Torralba Carnerero M, Moreno Férnandez de Ayala DJ, Arroyo Luque A, Sánchez Cuesta A, Staiano C, Sanchez-Pintos P, Luz Couce M, Tomás M, Marco-Hernández AV, Orellana C, Martínez F, Roselló M, Caro A, Oltra Soler JS, Monfort S, Sánchez A, Rausell D, Vitoria I, Del Toro M, Garcia-Cazorla A, Julia-Palacios NA, Jou C, Yubero D, López LC, Hernández Camacho JD, López Lluch G, Ballesteros Simarro M, Rodríguez Aguilera JC, Calvo GB, Cascajo Almenara MV, Artuch R, Santos-Ocaña C. Fabra MA, et al. Among authors: orellana c. J Inherit Metab Dis. 2024 Sep;47(5):1047-1068. doi: 10.1002/jimd.12776. Epub 2024 Jul 8. J Inherit Metab Dis. 2024. PMID: 38973597
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 Caused by a Novel PIGA Variant Not Associated with a Skewed X-Inactivation Pattern.
Gabaldon-Albero A, Cordon L, Sempere A, Pedrola L, Martin-Grau C, Oltra S, Monfort S, Caro-Llopis A, Dominguez-Martinez M, Hernandez-Muela S, Rosello M, Orellana C, Martinez F. Gabaldon-Albero A, et al. Among authors: orellana c. Genes (Basel). 2024 Jun 18;15(6):802. doi: 10.3390/genes15060802. Genes (Basel). 2024. PMID: 38927738 Free PMC article.
276 results