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Genetic characterization identifies bottom-of-sulcus dysplasia as an mTORopathy.
Lee WS, Stephenson SEM, Pope K, Gillies G, Maixner W, Macdonald-Laurs E, MacGregor D, D'Arcy C, Jackson G, Harvey AS, Leventer RJ, Lockhart PJ. Lee WS, et al. Neurology. 2020 Nov 3;95(18):e2542-e2551. doi: 10.1212/WNL.0000000000010670. Epub 2020 Aug 26. Neurology. 2020. PMID: 32847954
One-Stage, Limited-Resection Epilepsy Surgery for Bottom-of-Sulcus Dysplasia.
Macdonald-Laurs E, Maixner WJ, Bailey CA, Barton SM, Mandelstam SA, Yuan-Mou Yang J, Warren AEL, Kean MJ, Francis P, MacGregor D, D'Arcy C, Wrennall JA, Davidson A, Pope K, Leventer RJ, Freeman JL, Wray A, Jackson GD, Harvey AS. Macdonald-Laurs E, et al. Neurology. 2021 Jul 13;97(2):e178-e190. doi: 10.1212/WNL.0000000000012147. Epub 2021 May 4. Neurology. 2021. PMID: 33947776
An unexpected disease course for a patient with diffuse midline glioma.
Malalasekera VS, D'Arcy CE, Mignone C, Wray AC, Nazarian J, Freeman JL, Hansford JR. Malalasekera VS, et al. Pediatr Blood Cancer. 2021 Oct;68(10):e29205. doi: 10.1002/pbc.29205. Epub 2021 Jul 10. Pediatr Blood Cancer. 2021. PMID: 34245217 No abstract available.
Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function.
Van Bergen NJ, Hock DH, Spencer L, Massey S, Stait T, Stark Z, Lunke S, Roesley A, Peters H, Lee JY, Le Fevre A, Heath O, Mignone C, Yang JY, Ryan MM, D'Arcy C, Nash M, Smith S, Caruana NJ, Thorburn DR, Stroud DA, White SM, Christodoulou J, Brown NJ. Van Bergen NJ, et al. Int J Mol Sci. 2022 Jan 17;23(2):986. doi: 10.3390/ijms23020986. Int J Mol Sci. 2022. PMID: 35055180 Free PMC article.
245 results