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Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function.
Mendoza-Ferreira N, Coutelier M, Janzen E, Hosseinibarkooie S, Löhr H, Schneider S, Milbradt J, Karakaya M, Riessland M, Pichlo C, Torres-Benito L, Singleton A, Zuchner S, Brice A, Durr A, Hammerschmidt M, Stevanin G, Wirth B. Mendoza-Ferreira N, et al. Among authors: torres benito l. Neurol Genet. 2018 Jan 19;4(1):e209. doi: 10.1212/NXG.0000000000000209. eCollection 2018 Feb. Neurol Genet. 2018. PMID: 29379881 Free PMC article.
The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype.
Hosseinibarkooie S, Peters M, Torres-Benito L, Rastetter RH, Hupperich K, Hoffmann A, Mendoza-Ferreira N, Kaczmarek A, Janzen E, Milbradt J, Lamkemeyer T, Rigo F, Bennett CF, Guschlbauer C, Büschges A, Hammerschmidt M, Riessland M, Kye MJ, Clemen CS, Wirth B. Hosseinibarkooie S, et al. Among authors: torres benito l. Am J Hum Genet. 2016 Sep 1;99(3):647-665. doi: 10.1016/j.ajhg.2016.07.014. Epub 2016 Aug 4. Am J Hum Genet. 2016. PMID: 27499521 Free PMC article.
Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis.
Riessland M, Kaczmarek A, Schneider S, Swoboda KJ, Löhr H, Bradler C, Grysko V, Dimitriadi M, Hosseinibarkooie S, Torres-Benito L, Peters M, Upadhyay A, Biglari N, Kröber S, Hölker I, Garbes L, Gilissen C, Hoischen A, Nürnberg G, Nürnberg P, Walter M, Rigo F, Bennett CF, Kye MJ, Hart AC, Hammerschmidt M, Kloppenburg P, Wirth B. Riessland M, et al. Among authors: torres benito l. Am J Hum Genet. 2017 Feb 2;100(2):297-315. doi: 10.1016/j.ajhg.2017.01.005. Epub 2017 Jan 26. Am J Hum Genet. 2017. PMID: 28132687 Free PMC article.
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: torres benito l. 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.
Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy.
Gonçalves IDCG, Brecht J, Thelen MP, Rehorst WA, Peters M, Lee HJ, Motameny S, Torres-Benito L, Ebrahimi-Fakhari D, Kononenko NL, Altmüller J, Vilchez D, Sahin M, Wirth B, Kye MJ. Gonçalves IDCG, et al. Among authors: torres benito l. Sci Rep. 2018 May 21;8(1):7907. doi: 10.1038/s41598-018-26347-y. Sci Rep. 2018. PMID: 29784949 Free PMC article.
Author Correction: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy.
Gonçalves IDCG, Brecht J, Thelen MP, Rehorst WA, Peters M, Lee HJ, Motameny S, Torres-Benito L, Ebrahimi-Fakhari D, Kononenko NL, Altmüller J, Vilchez D, Sahin M, Wirth B, Kye MJ. Gonçalves IDCG, et al. Among authors: torres benito l. Sci Rep. 2018 Jul 3;8(1):10294. doi: 10.1038/s41598-018-28202-6. Sci Rep. 2018. PMID: 29967434 Free PMC article.
Author Correction: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy.
Gonçalves IDCG, Brecht J, Thelen MP, Rehorst WA, Peters M, Lee HJ, Motameny S, Torres-Benito L, Ebrahimi-Fakhari D, Kononenko NL, Altmüller J, Vilchez D, Sahin M, Wirth B, Kye MJ. Gonçalves IDCG, et al. Among authors: torres benito l. Sci Rep. 2020 May 13;10(1):8206. doi: 10.1038/s41598-020-64694-x. Sci Rep. 2020. PMID: 32398663 Free PMC article.
17 results