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Page 1
Hippocampal rotation is associated with ventricular atrial size.
Whitehead MT, Limperopoulos C, Schlatterer SD, Mulkey SB, Fraser JL, du Plessis AJ. Whitehead MT, et al. Among authors: fraser jl. Pediatr Radiol. 2023 Aug;53(9):1941-1950. doi: 10.1007/s00247-023-05687-6. Epub 2023 May 15. Pediatr Radiol. 2023. PMID: 37183230
Leukoencephalopathy With Calcifications and Cysts.
Jones FJ, Elser H, Mendez A, Fraser JL, Orthmann-Murphy J. Jones FJ, et al. Among authors: fraser jl. Neurology. 2024 Nov 12;103(9):e209936. doi: 10.1212/WNL.0000000000209936. Epub 2024 Sep 30. Neurology. 2024. PMID: 39348617 No abstract available.
Systemic complications of Aicardi Goutières syndrome using real-world data.
Peixoto de Barcelos I, Jan AK, Modesti N, Woidill S, Gavazzi F, Isaacs D, D'Aiello R, Sevagamoorthy A, Charlton L, Pizzino A, Schmidt J, van Haren K, Keller S, Eichler F, Emrick LT, Fraser JL, Shults J, Vanderver A, Adang LA. Peixoto de Barcelos I, et al. Among authors: fraser jl. Mol Genet Metab. 2024 Sep-Oct;143(1-2):108578. doi: 10.1016/j.ymgme.2024.108578. Epub 2024 Sep 15. Mol Genet Metab. 2024. PMID: 39332260
Glial Origins of Inherited White Matter Disorders.
Sevagamoorthy A, Vanderver A, Fraser JL, Orthmann-Murphy J. Sevagamoorthy A, et al. Among authors: fraser jl. Cold Spring Harb Perspect Biol. 2024 Aug 12:a041457. doi: 10.1101/cshperspect.a041457. Online ahead of print. Cold Spring Harb Perspect Biol. 2024. PMID: 39134377
Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency.
Fortin O, Christoffel K, Shoaib AB, Venkatesan C, Cilli K, Schroeder JW, Alves C, Ganetzky RD, Fraser JL. Fortin O, et al. Among authors: fraser jl. Neurology. 2024 Aug 27;103(4):e209728. doi: 10.1212/WNL.0000000000209728. Epub 2024 Aug 5. Neurology. 2024. PMID: 39102617
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
Chen Y, Dawes R, Kim HC, Ljungdahl A, Stenton SL, Walker S, Lord J, Lemire G, Martin-Geary AC, Ganesh VS, Ma J, Ellingford JM, Delage E, D'Souza EN, Dong S, Adams DR, Allan K, Bakshi M, Baldwin EE, Berger SI, Bernstein JA, Bhatnagar I, Blair E, Brown NJ, Burrage LC, Chapman K, Coman DJ, Compton AG, Cunningham CA, D'Souza P, Danecek P, Délot EC, Dias KR, Elias ER, Elmslie F, Evans CA, Ewans L, Ezell K, Fraser JL, Gallacher L, Genetti CA, Goriely A, Grant CL, Haack T, Higgs JE, Hinch AG, Hurles ME, Kuechler A, Lachlan KL, Lalani SR, Lecoquierre F, Leitão E, Fevre AL, Leventer RJ, Liebelt JE, Lindsay S, Lockhart PJ, Ma AS, Macnamara EF, Mansour S, Maurer TM, Mendez HR, Metcalfe K, Montgomery SB, Moosajee M, Nassogne MC, Neumann S, O'Donoghue M, O'Leary M, Palmer EE, Pattani N, Phillips J, Pitsava G, Pysar R, Rehm HL, Reuter CM, Revencu N, Riess A, Rius R, Rodan L, Roscioli T, Rosenfeld JA, Sachdev R, Shaw-Smith CJ, Simons C, Sisodiya SM, Snell P, St Clair L, Stark Z, Stewart HS, Tan TY, Tan NB, Temple SEL, Thorburn DR, Tifft CJ, Uebergang E, VanNoy GE, Vasudevan P, Vilain E, Viskochil DH, Wedd L, Wheeler MT, White SM, Wojcik M, Wolfe LA, Wolfenson Z, Wright CF, Xiao C, Zocche … See abstract for full author list ➔ Chen Y, et al. Among authors: fraser jl. Nature. 2024 Aug;632(8026):832-840. doi: 10.1038/s41586-024-07773-7. Epub 2024 Jul 11. Nature. 2024. PMID: 38991538 Free PMC article.
Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy.
Adang LA, Groeschel S, Grzyb C, D'Aiello R, Gavazzi F, Sherbini O, Bronner N, Patel A, Vincent A, Sevagamoorthy A, Mutua S, Muirhead K, Schmidt J, Pizzino A, Yu E, Jin D, Eichler F, Fraser JL, Emrick L, Van Haren K, Boulanger JM, Ruzhnikov M, Sylvain M, Nguyen CÉ, Potic A, Keller S, Fatemi A, Uebergang E, Poe M, Yazdani PA, Bernat J, Lindstrom K, Bonkowsky JL, Bernard G, Stutterd CA, Orchard P, Gupta AO, Ljungberg M, Groenborg S, Zambon A, Locatelli S, Fumagalli F, Elguen S, Kehrer C, Krägeloh-Mann I, Shults J, Vanderver A, Escolar ML. Adang LA, et al. Among authors: fraser jl. Mol Genet Metab. 2024 Aug;142(4):108521. doi: 10.1016/j.ymgme.2024.108521. Epub 2024 Jun 29. Mol Genet Metab. 2024. PMID: 38964050
70 results