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Acetyl-dl-leucine in Niemann-Pick type C: A case series.
Bremova T, Malinová V, Amraoui Y, Mengel E, Reinke J, Kolníková M, Strupp M. Bremova T, et al. Among authors: amraoui y. Neurology. 2015 Oct 20;85(16):1368-75. doi: 10.1212/WNL.0000000000002041. Epub 2015 Sep 23. Neurology. 2015. PMID: 26400580
A cross-sectional, prospective ocular motor study in 72 patients with Niemann-Pick disease type C.
Bremova-Ertl T, Abel L, Walterfang M, Salsano E, Ardissone A, Malinová V, Kolníková M, Gascón Bayarri J, Reza Tavasoli A, Reza Ashrafi M, Amraoui Y, Mengel E, Kolb SA, Brecht A, Bardins S, Strupp M. Bremova-Ertl T, et al. Among authors: amraoui y. Eur J Neurol. 2021 Sep;28(9):3040-3050. doi: 10.1111/ene.14955. Epub 2021 Jul 12. Eur J Neurol. 2021. PMID: 34096670 Free PMC article.
Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker.
te Vruchte D, Speak AO, Wallom KL, Al Eisa N, Smith DA, Hendriksz CJ, Simmons L, Lachmann RH, Cousins A, Hartung R, Mengel E, Runz H, Beck M, Amraoui Y, Imrie J, Jacklin E, Riddick K, Yanjanin NM, Wassif CA, Rolfs A, Rimmele F, Wright N, Taylor C, Ramaswami U, Cox TM, Hastings C, Jiang X, Sidhu R, Ory DS, Arias B, Jeyakumar M, Sillence DJ, Wraith JE, Porter FD, Cortina-Borja M, Platt FM. te Vruchte D, et al. Among authors: amraoui y. J Clin Invest. 2014 Mar;124(3):1320-8. doi: 10.1172/JCI72835. J Clin Invest. 2014. PMID: 24487591 Free PMC article.
Plasma neurofilament light, glial fibrillary acidic protein and lysosphingolipid biomarkers for pharmacodynamics and disease monitoring of GM2 and GM1 gangliosidoses patients.
Welford RWD, Farine H, Steiner M, Garzotti M, Dobrenis K, Sievers C, Strasser DS, Amraoui Y, Groenen PMA, Giugliani R, Mengel E. Welford RWD, et al. Among authors: amraoui y. Mol Genet Metab Rep. 2022 Feb 1;30:100843. doi: 10.1016/j.ymgmr.2022.100843. eCollection 2022 Mar. Mol Genet Metab Rep. 2022. PMID: 35242574 Free PMC article.
Retinal and optic nerve degeneration in α-mannosidosis.
Matlach J, Zindel T, Amraoui Y, Arash-Kaps L, Hennermann JB, Pitz S. Matlach J, et al. Among authors: amraoui y. Orphanet J Rare Dis. 2018 Jun 1;13(1):88. doi: 10.1186/s13023-018-0829-z. Orphanet J Rare Dis. 2018. PMID: 29859105 Free PMC article.
21 results