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Cathepsin D as biomarker in cerebrospinal fluid of nusinersen-treated patients with spinal muscular atrophy.
Eur J Neurol. 2022 Jul;29(7):2084-2096. doi: 10.1111/ene.15331. Epub 2022 May 4.
Eur J Neurol. 2022.
PMID: 35318785
NCALD Antisense Oligonucleotide Therapy in Addition to Nusinersen further Ameliorates Spinal Muscular Atrophy in Mice.
Torres-Benito L, Schneider S, Rombo R, Ling KK, Grysko V, Upadhyay A, Kononenko NL, Rigo F, Bennett CF, Wirth B.
Torres-Benito L, et al. Among authors: rombo r.
Am J Hum Genet. 2019 Jul 3;105(1):221-230. doi: 10.1016/j.ajhg.2019.05.008. Epub 2019 Jun 20.
Am J Hum Genet. 2019.
PMID: 31230718
Free PMC article.
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Combinatorial ASO-mediated therapy with low dose SMN and the protective modifier Chp1 is not sufficient to ameliorate SMA pathology hallmarks.
Muinos-Bühl A, Rombo R, Janzen E, Ling KK, Hupperich K, Rigo F, Bennett CF, Wirth B.
Muinos-Bühl A, et al. Among authors: rombo r.
Neurobiol Dis. 2022 Sep;171:105795. doi: 10.1016/j.nbd.2022.105795. Epub 2022 Jun 18.
Neurobiol Dis. 2022.
PMID: 35724821
Free article.
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Long-Term SMN- and Ncald-ASO Combinatorial Therapy in SMA Mice and NCALD-ASO Treatment in hiPSC-Derived Motor Neurons Show Protective Effects.
Muiños-Bühl A, Rombo R, Ling KK, Zilio E, Rigo F, Bennett CF, Wirth B.
Muiños-Bühl A, et al. Among authors: rombo r.
Int J Mol Sci. 2023 Feb 20;24(4):4198. doi: 10.3390/ijms24044198.
Int J Mol Sci. 2023.
PMID: 36835624
Free PMC article.
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Neurocalcin Delta Knockout Impairs Adult Neurogenesis Whereas Half Reduction Is Not Pathological.
Upadhyay A, Hosseinibarkooie S, Schneider S, Kaczmarek A, Torres-Benito L, Mendoza-Ferreira N, Overhoff M, Rombo R, Grysko V, Kye MJ, Kononenko NL, Wirth B.
Upadhyay A, et al. Among authors: rombo r.
Front Mol Neurosci. 2019 Feb 12;12:19. doi: 10.3389/fnmol.2019.00019. eCollection 2019.
Front Mol Neurosci. 2019.
PMID: 30853885
Free PMC article.
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De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation.
Mendoza-Ferreira N, Karakaya M, Cengiz N, Beijer D, Brigatti KW, Gonzaga-Jauregui C, Fuhrmann N, Hölker I, Thelen MP, Zetzsche S, Rombo R, Puffenberger EG, De Jonghe P, Deconinck T, Zuchner S, Strauss KA, Carson V, Schrank B, Wunderlich G, Baets J, Wirth B.
Mendoza-Ferreira N, et al. Among authors: rombo r.
Am J Hum Genet. 2020 Oct 1;107(4):763-777. doi: 10.1016/j.ajhg.2020.08.018. Epub 2020 Sep 15.
Am J Hum Genet. 2020.
PMID: 32937143
Free PMC article.
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Effect of chaetocin on renal cell carcinoma cells and cytokine-induced killer cells.
Rombo R, Weiher H, Schmidt-Wolf IG.
Rombo R, et al.
Ger Med Sci. 2016 Apr 18;14:Doc04. doi: 10.3205/000231. eCollection 2016.
Ger Med Sci. 2016.
PMID: 27141211
Free PMC article.
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