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Year Number of Results
1999 1
2018 1
2022 1
2023 1
2024 0

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Page 1
Severity of GNAO1-Related Disorder Correlates with Changes in G-Protein Function.
Domínguez-Carral J, Ludlam WG, Junyent Segarra M, Fornaguera Marti M, Balsells S, Muchart J, Čokolić Petrović D, Espinoza I, Ortigoza-Escobar JD, Martemyanov KA; GNAO1-Study Group. Domínguez-Carral J, et al. Ann Neurol. 2023 Nov;94(5):987-1004. doi: 10.1002/ana.26758. Epub 2023 Aug 31. Ann Neurol. 2023. PMID: 37548038
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder.
Cappuccio G, De Bernardi ML, Morlando A, Peduto C, Scala I, Pinelli M, Bellacchio E, Gallo FG, Magli A, Plaitano C, Serrano M, Pías L, Català J, Bolasell M, Torella A, Nigro V, Zanni G, Brunetti-Pierri N. Cappuccio G, et al. Among authors: pias l. Am J Med Genet A. 2022 Oct;188(10):3032-3040. doi: 10.1002/ajmg.a.62911. Epub 2022 Jul 25. Am J Med Genet A. 2022. PMID: 35876338 Free PMC article.
Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience.
Batllori M, Molero-Luis M, Ormazabal A, Montero R, Sierra C, Ribes A, Montoya J, Ruiz-Pesini E, O'Callaghan M, Pias L, Nascimento A, Palau F, Armstrong J, Yubero D, Ortigoza-Escobar JD, García-Cazorla A, Artuch R. Batllori M, et al. Among authors: pias l. J Inherit Metab Dis. 2018 Nov;41(6):1147-1158. doi: 10.1007/s10545-018-0224-x. Epub 2018 Jul 4. J Inherit Metab Dis. 2018. PMID: 29974349
Primary extramedullary plasmacytoma of the palate.
Seoane J, De la Cruz A, Pomareda M, Varela-Centelles PI, Pias L. Seoane J, et al. Among authors: pias l. Otolaryngol Head Neck Surg. 1999 Apr;120(4):530. doi: 10.1053/hn.1999.v120.a87039. Otolaryngol Head Neck Surg. 1999. PMID: 10187947 No abstract available.