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Individuals' experiences in genetic counseling and predictive testing for familial amyotrophic lateral sclerosis.
J Genet Couns. 2024 Mar 13. doi: 10.1002/jgc4.1890. Online ahead of print.
J Genet Couns. 2024.
PMID: 38477424
Two cases of MT-ND5-related mitochondrial disorder misdiagnosed as seronegative neuromyelitis optica spectrum disorder.
Wilkins SR, Yu AW, Steigerwald C, Tanji K, Iglesias AD, Hirano M, Kister I, Riley CS, Abreu NJ.
Wilkins SR, et al.
Mult Scler. 2023 Jun;29(7):892-897. doi: 10.1177/13524585231172947. Epub 2023 May 25.
Mult Scler. 2023.
PMID: 37227101
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Pearls & Oy-sters: CSF1R-Related Leukoencephalopathy With Spinal Cord Lesions Mimicking Multiple Sclerosis.
Jain A, Arena VP, Steigerwald C, Borja MJ, Kister I, Abreu NJ.
Jain A, et al.
Neurology. 2023 Sep 12;101(11):e1178-e1181. doi: 10.1212/WNL.0000000000207502. Epub 2023 Jul 5.
Neurology. 2023.
PMID: 37407261
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Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype.
Garber A, Weingarten LS, Abreu NJ, Elloumi HZ, Haack T, Hildebrant C, Martínez-Gil N, Mathews J, Müller AJ, Valenzuela Palafoll I, Steigerwald C, Chung WK.
Garber A, et al.
Am J Med Genet A. 2024 Feb 29:e63578. doi: 10.1002/ajmg.a.63578. Online ahead of print.
Am J Med Genet A. 2024.
PMID: 38425142
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CLN2 disease resulting from a novel homozygous deep intronic splice variant in TPP1 discovered using long-read sequencing.
Steigerwald C, Borsuk J, Pappas J, Galey M, Scott A, Devaney JM, Miller DE, Abreu NJ.
Steigerwald C, et al.
Mol Genet Metab. 2023 Dec;140(4):107713. doi: 10.1016/j.ymgme.2023.107713. Epub 2023 Oct 30.
Mol Genet Metab. 2023.
PMID: 37922835
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Relapsing White Matter Disease and Subclinical Optic Neuropathy: From the National Multiple Sclerosis Society Case Conference Proceedings.
O'Neill KA, Dugue A, Abreu NJ, Balcer LJ, Branche M, Galetta S, Graves J, Kister I, Magro C, Miller C, Newsome SD, Pappas J, Rucker J, Steigerwald C, William CM, Zamvil SS, Grossman SN, Krupp LB.
O'Neill KA, et al.
Neurol Neuroimmunol Neuroinflamm. 2024 Mar;11(2):e200194. doi: 10.1212/NXI.0000000000200194. Epub 2024 Jan 5.
Neurol Neuroimmunol Neuroinflamm. 2024.
PMID: 38181317
Free PMC article.
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