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Multiple Independent Gene Disorders Causing Bardet-Biedl Syndrome, Congenital Hypothyroidism, and Hearing Loss in a Single Indian Patient.
Brain Sci. 2023 Aug 16;13(8):1210. doi: 10.3390/brainsci13081210.
Brain Sci. 2023.
PMID: 37626566
Free PMC article.
Subacute Partially Reversible Leukoencephalopathy Expands the Aicardi-Goutières Syndrome Phenotype.
Peixoto de Barcelos I, Bueno C, S Godoy LF, Pessoa A, A Costa L, C Monti F, Souza-Cabral K, Listik C, Castro D, Della-Ripa B, Freua F, C Pires L, T Krüger L, D Gherpelli JL, B Piazzon F, P Monteiro F, T Lucato L, Kok F.
Peixoto de Barcelos I, et al.
Brain Sci. 2023 Aug 5;13(8):1169. doi: 10.3390/brainsci13081169.
Brain Sci. 2023.
PMID: 37626525
Free PMC article.
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Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
Sheppard SE, Bryant L, Wickramasekara RN, Vaccaro C, Robertson B, Hallgren J, Hulen J, Watson CJ, Faundes V, Duffourd Y, Lee P, Simon MC, de la Cruz X, Padilla N, Flores-Mendez M, Akizu N, Smiler J, Pellegrino Da Silva R, Li D, March M, Diaz-Rosado A, Peixoto de Barcelos I, Choa ZX, Lim CY, Dubourg C, Journel H, Demurger F, Mulhern M, Akman C, Lippa N, Andrews M, Baldridge D, Constantino J, van Haeringen A, Snoeck-Streef I, Chow P, Hing A, Graham JM Jr, Au M, Faivre L, Shen W, Mao R, Palumbos J, Viskochil D, Gahl W, Tifft C, Macnamara E, Hauser N, Miller R, Maffeo J, Afenjar A, Doummar D, Keren B, Arn P, Macklin-Mantia S, Meerschaut I, Callewaert B, Reis A, Zweier C, Brewer C, Saggar A, Smeland MF, Kumar A, Elmslie F, Deshpande C, Nizon M, Cogne B, van Ierland Y, Wilke M, van Slegtenhorst M, Koudijs S, Chen JY, Dredge D, Pier D, Wortmann S, Kamsteeg EJ, Koch J, Haynes D, Pollack L, Titheradge H, Ranguin K, Denommé-Pichon AS, Weber S, Pérez de la Fuente R, Sánchez Del Pozo J, Lezana Rosales JM, Joset P, Steindl K, Rauch A, Mei D, Mari F, Guerrini R, Lespinasse J, Tran Mau-Them F, Philippe C, Dauriat B, Raymond L, Moutton S, Cueto-González AM, Tan TY, Mignot C, Grotto S, Rena…
See abstract for full author list ➔
Sheppard SE, et al. Among authors: peixoto de barcelos i.
Sci Adv. 2023 Mar 10;9(10):eade1463. doi: 10.1126/sciadv.ade1463. Epub 2023 Mar 10.
Sci Adv. 2023.
PMID: 36897941
Free PMC article.
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Pearls & Oy-sters: Paroxysmal Exercise-Induced Dyskinesias Due to Pyruvate Dehydrogenase Deficiency.
de Gusmao CM, Peixoto de Barcelos I, Pinto ALR, Silveira-Moriyama L.
de Gusmao CM, et al. Among authors: peixoto de barcelos i.
Neurology. 2023 Jul 4;101(1):46-49. doi: 10.1212/WNL.0000000000207142. Epub 2023 Feb 20.
Neurology. 2023.
PMID: 36805432
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Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings.
Paiva ARB, Pessoa ALS, Nóbrega PR, Moreno CAM, Lynch DS, Taniguti LM, Kitajima JP, Freua F, Della-Ripa B, Cunha P, Peixoto de Barcelos I, Macedo-Souza LI, Takeuchi CA, Garcia AMS, Nardes F, Fontão R, Antoniuk SA, Troncoso M, Spécola N, Durand C, Madeiro BACS, Doriqui MJR, Vergara D, Houlden H, Kok F.
Paiva ARB, et al. Among authors: peixoto de barcelos i.
J Neurol Neurosurg Psychiatry. 2023 May;94(5):405-408. doi: 10.1136/jnnp-2022-330135. Epub 2023 Feb 3.
J Neurol Neurosurg Psychiatry. 2023.
PMID: 36737246
No abstract available.
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A 47-Year-Old Man Presenting With Seizures and Prior Stroke.
Camacho-Caballero K, Malaga M, Peixoto de Barcelos I, Prentice AF, Berkowitz AL.
Camacho-Caballero K, et al. Among authors: peixoto de barcelos i.
Neurohospitalist. 2023 Jan;13(1):74-77. doi: 10.1177/19418744221122877. Epub 2022 Oct 10.
Neurohospitalist. 2023.
PMID: 36531844
Free PMC article.
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