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Page 1
Adult-onset neurodegeneration in XMEN disease.
Benavides D, Ebrahim A, Ravell JC, Lenardo M, Gahl WA, Toro C. Benavides D, et al. J Neuroimmunol. 2024 Jan 15;386:578251. doi: 10.1016/j.jneuroim.2023.578251. Epub 2023 Nov 24. J Neuroimmunol. 2024. PMID: 38041964
Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B.
Loftus SK, Gillis MF, Lundh L, Baxter LL, Wedel JC, Watkins-Chow DE, Donovan FX; NISC Comparative Sequencing Program; Sergeev YV, Oetting WS, Pavan WJ, Adams DR. Loftus SK, et al. Am J Hum Genet. 2023 Jul 6;110(7):1123-1137. doi: 10.1016/j.ajhg.2023.05.012. Epub 2023 Jun 15. Am J Hum Genet. 2023. PMID: 37327787 Free PMC article.
Relationship between age at initiation of cysteamine treatment, adherence with therapy, and glomerular kidney function in infantile nephropathic cystinosis.
Nießl C, Boulesteix AL, Oh J, Palm K, Schlingmann P, Wygoda S, Haffner D, Wühl E, Tönshoff B, Buescher A, Billing H, Hoppe B, Zirngibl M, Kettwig M, Moeller K, Acham-Roschitz B, Arbeiter K, Bald M, Benz M, Galiano M, John-Kroegel U, Klaus G, Marx-Berger D, Moser K, Mueller D, Patzer L, Pohl M, Seitz B, Treikauskas U, von Vigier RO, Gahl WA, Hohenfellner K. Nießl C, et al. Mol Genet Metab. 2022 Aug;136(4):268-273. doi: 10.1016/j.ymgme.2022.06.010. Epub 2022 Jul 2. Mol Genet Metab. 2022. PMID: 35835062 Free PMC article.
21 results