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Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.
Ann Neurol. 2022 Aug;92(2):304-321. doi: 10.1002/ana.26381. Epub 2022 May 28.
Ann Neurol. 2022.
PMID: 35471564
Free PMC article.
Are Cognitive Changes in Hereditary Spastic Paraplegias Restricted to Complicated Forms?
Jacinto-Scudeiro LA, Dariva Machado G, Ayres A, Burguêz D, Polese-Bonato M, González-Salazar C, Siebert M, Cavalcante França M Jr, Olchik MR, Morales Saute JA.
Jacinto-Scudeiro LA, et al. Among authors: morales saute ja.
Front Neurol. 2019 May 24;10:508. doi: 10.3389/fneur.2019.00508. eCollection 2019.
Front Neurol. 2019.
PMID: 31231294
Free PMC article.
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Novel AHDC1 Gene Mutation in a Brazilian Individual: Implications of Xia-Gibbs Syndrome.
Cardoso-Dos-Santos AC, Oliveira Silva T, Silveira Faccini A, Woycinck Kowalski T, Bertoli-Avella A, Morales Saute JA, Schuler-Faccini L, de Oliveira Poswar F.
Cardoso-Dos-Santos AC, et al. Among authors: morales saute ja.
Mol Syndromol. 2020 Feb;11(1):24-29. doi: 10.1159/000505843. Epub 2020 Feb 1.
Mol Syndromol. 2020.
PMID: 32256298
Free PMC article.
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Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability.
Erdinc D, Rodríguez-Luis A, Fassad MR, Mackenzie S, Watson CM, Valenzuela S, Xie X, Menger KE, Sergeant K, Craig K, Hopton S, Falkous G; Genomics England Research Consortium; Poulton J, Garcia-Moreno H, Giunti P, de Moura Aschoff CA, Morales Saute JA, Kirby AJ, Toro C, Wolfe L, Novacic D, Greenbaum L, Eliyahu A, Barel O, Anikster Y, McFarland R, Gorman GS, Schaefer AM, Gustafsson CM, Taylor RW, Falkenberg M, Nicholls TJ.
Erdinc D, et al. Among authors: morales saute ja.
EMBO Mol Med. 2023 May 8;15(5):e16775. doi: 10.15252/emmm.202216775. Epub 2023 Apr 4.
EMBO Mol Med. 2023.
PMID: 37013609
Free PMC article.
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SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins.
Lone MA, Aaltonen MJ, Zidell A, Pedro HF, Morales Saute JA, Mathew S, Mohassel P, Bönnemann CG, Shoubridge EA, Hornemann T.
Lone MA, et al. Among authors: morales saute ja.
J Clin Invest. 2022 Sep 15;132(18):e161908. doi: 10.1172/JCI161908.
J Clin Invest. 2022.
PMID: 35900868
Free PMC article.
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When ataxia is not just ataxia.
Kieling C, Morales Saute JA, Jardim LB.
Kieling C, et al. Among authors: morales saute ja.
Nat Clin Pract Neurol. 2007 May;3(5):E2. doi: 10.1038/ncpneuro0503.
Nat Clin Pract Neurol. 2007.
PMID: 17479070
No abstract available.
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Invasive liver abscess syndrome with central nervous system involvement caused by hypermucoviscous Klebsiella pneumoniae: positive string test.
de Oliveira Franco Á, Uberti Dos Santos V, von Ameln Lovison O, Zavascki AP, Barth AL, Morales Saute JA, Muxfeldt Bianchin M.
de Oliveira Franco Á, et al. Among authors: morales saute ja.
Lancet. 2024 May 18;403(10440):2257-2258. doi: 10.1016/S0140-6736(24)00737-2.
Lancet. 2024.
PMID: 38762326
No abstract available.
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