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GDF15 is a dynamic biomarker of the integrated stress response in the central nervous system.
Asundi J, Zhang C, Donnelly-Roberts D, Solorio JZ, Challagundla M, Connelly C, Boch C, Chen J, Richter M, Maneshi MM, Swensen AM, Lebon L, Schiffmann R, Sanyal S, Sidrauski C, Kolumam G, Baruch A. Asundi J, et al. Among authors: schiffmann r. CNS Neurosci Ther. 2024 Feb;30(2):e14600. doi: 10.1111/cns.14600. CNS Neurosci Ther. 2024. PMID: 38357857 Free PMC article.
Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature.
Potic A, Perrier S, Radovic T, Gavrilovic S, Ostojic J, Tran LT, Thiffault I, Pastinen T, Schiffmann R, Bernard G. Potic A, et al. Among authors: schiffmann r. Orphanet J Rare Dis. 2023 Jul 13;18(1):187. doi: 10.1186/s13023-023-02802-6. Orphanet J Rare Dis. 2023. PMID: 37443037 Free PMC article. Review.
Optimizing human α-galactosidase for treatment of Fabry disease.
Hallows WC, Skvorak K, Agard N, Kruse N, Zhang X, Zhu Y, Botham RC, Chng C, Shukla C, Lao J, Miller M, Sero A, Viduya J, Ismaili MHA, McCluskie K, Schiffmann R, Silverman AP, Shen JS, Huisman GW. Hallows WC, et al. Among authors: schiffmann r. Sci Rep. 2023 Mar 23;13(1):4748. doi: 10.1038/s41598-023-31777-4. Sci Rep. 2023. PMID: 36959353 Free PMC article.
Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.
Koch RL, Soler-Alfonso C, Kiely BT, Asai A, Smith AL, Bali DS, Kang PB, Landstrom AP, Akman HO, Burrow TA, Orthmann-Murphy JL, Goldman DS, Pendyal S, El-Gharbawy AH, Austin SL, Case LE, Schiffmann R, Hirano M, Kishnani PS. Koch RL, et al. Among authors: schiffmann r. Mol Genet Metab. 2023 Mar;138(3):107525. doi: 10.1016/j.ymgme.2023.107525. Epub 2023 Jan 25. Mol Genet Metab. 2023. PMID: 36796138 Review.
Dysregulated DNA methylation in the pathogenesis of Fabry disease.
Shen JS, Balaji U, Shigeyasu K, Okugawa Y, Jabbarzadeh-Tabrizi S, Day TS, Arning E, Marshall J, Cheng SH, Gu J, Schiffmann R, Bottiglieri T, Goel A. Shen JS, et al. Among authors: schiffmann r. Mol Genet Metab Rep. 2022 Sep 26;33:100919. doi: 10.1016/j.ymgmr.2022.100919. eCollection 2022 Dec. Mol Genet Metab Rep. 2022. PMID: 36186841 Free PMC article.
Therapy Trial Design in Vanishing White Matter: An Expert Consortium Opinion.
van der Knaap MS, Bonkowsky JL, Vanderver A, Schiffmann R, Krägeloh-Mann I, Bertini E, Bernard G, Fatemi SA, Wolf NI, Saunier-Vivar E, Rauner R, Dekker H, van Bokhoven P, van de Ven P, Leferink PS. van der Knaap MS, et al. Among authors: schiffmann r. Neurol Genet. 2022 Feb 2;8(2):e657. doi: 10.1212/NXG.0000000000000657. eCollection 2022 Apr. Neurol Genet. 2022. PMID: 35128050 Free PMC article. Review.
Corrigendum to "Long-term follow-up of renal function in patients treated with migalastat for Fabry disease" [Bichet et al., MGM Reports; 28 (2021) 100786].
Bichet DG, Torra R, Wallace E, Hughes D, Giugliani R, Skuban N, Krusinska E, Feldt-Rasmussen U, Schiffmann R, Nicholls K. Bichet DG, et al. Among authors: schiffmann r. Mol Genet Metab Rep. 2021 Oct 2;29:100807. doi: 10.1016/j.ymgmr.2021.100807. eCollection 2021 Dec. Mol Genet Metab Rep. 2021. PMID: 34934630 Free PMC article.
322 results