Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 15

1.

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.

Am J Hum Genet. 2019 Jul 3;105(1):221-230. doi: 10.1016/j.ajhg.2019.05.008. Epub 2019 Jun 20.

PMID:
31230718
2.

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.

Front Mol Neurosci. 2019 Feb 12;12:19. doi: 10.3389/fnmol.2019.00019. eCollection 2019.

3.

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.

Sci Rep. 2018 Jul 3;8(1):10294. doi: 10.1038/s41598-018-28202-6.

4.

CHP1 reduction ameliorates spinal muscular atrophy pathology by restoring calcineurin activity and endocytosis.

Janzen E, Mendoza-Ferreira N, Hosseinibarkooie S, Schneider S, Hupperich K, Tschanz T, Grysko V, Riessland M, Hammerschmidt M, Rigo F, Bennett CF, Kye MJ, Torres-Benito L, Wirth B.

Brain. 2018 Aug 1;141(8):2343-2361. doi: 10.1093/brain/awy167.

5.

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.

Sci Rep. 2018 May 21;8(1):7907. doi: 10.1038/s41598-018-26347-y. Erratum in: Sci Rep. 2018 Jul 3;8(1):10294.

6.

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.

Neurol Genet. 2018 Jan 19;4(1):e209. doi: 10.1212/NXG.0000000000000209. eCollection 2018 Feb.

7.

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.

Am J Hum Genet. 2017 Feb 2;100(2):297-315. doi: 10.1016/j.ajhg.2017.01.005. Epub 2017 Jan 26.

8.

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.

Am J Hum Genet. 2016 Sep 1;99(3):647-665. doi: 10.1016/j.ajhg.2016.07.014. Epub 2016 Aug 4.

9.

Plastin 3 is upregulated in iPSC-derived motoneurons from asymptomatic SMN1-deleted individuals.

Heesen L, Peitz M, Torres-Benito L, Hölker I, Hupperich K, Dobrindt K, Jungverdorben J, Ritzenhofen S, Weykopf B, Eckert D, Hosseini-Barkooie SM, Storbeck M, Fusaki N, Lonigro R, Heller R, Kye MJ, Brüstle O, Wirth B.

Cell Mol Life Sci. 2016 May;73(10):2089-104. doi: 10.1007/s00018-015-2084-y. Epub 2015 Nov 16.

PMID:
26573968
10.

Notch signaling pathway is activated in motoneurons of spinal muscular atrophy.

Caraballo-Miralles V, Cardona-Rossinyol A, Garcera A, Torres-Benito L, Soler RM, Tabares L, Lladó J, Olmos G.

Int J Mol Sci. 2013 May 29;14(6):11424-37. doi: 10.3390/ijms140611424.

11.

Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality.

Ackermann B, Kröber S, Torres-Benito L, Borgmann A, Peters M, Hosseini Barkooie SM, Tejero R, Jakubik M, Schreml J, Milbradt J, Wunderlich TF, Riessland M, Tabares L, Wirth B.

Hum Mol Genet. 2013 Apr 1;22(7):1328-47. doi: 10.1093/hmg/dds540. Epub 2012 Dec 20.

PMID:
23263861
12.

Structural and functional maturation of active zones in large synapses.

Cano R, Torres-Benito L, Tejero R, Biea AI, Ruiz R, Betz WJ, Tabares L.

Mol Neurobiol. 2013 Feb;47(1):209-19. doi: 10.1007/s12035-012-8347-9. Epub 2012 Sep 20. Review.

PMID:
22992975
13.

SMN requirement for synaptic vesicle, active zone and microtubule postnatal organization in motor nerve terminals.

Torres-Benito L, Neher MF, Cano R, Ruiz R, Tabares L.

PLoS One. 2011;6(10):e26164. doi: 10.1371/journal.pone.0026164. Epub 2011 Oct 12.

14.

Synaptic defects in spinal muscular atrophy animal models.

Torres-Benito L, Ruiz R, Tabares L.

Dev Neurobiol. 2012 Jan;72(1):126-33. doi: 10.1002/dneu.20912. Review.

15.

Altered intracellular Ca2+ homeostasis in nerve terminals of severe spinal muscular atrophy mice.

Ruiz R, Casañas JJ, Torres-Benito L, Cano R, Tabares L.

J Neurosci. 2010 Jan 20;30(3):849-57. doi: 10.1523/JNEUROSCI.4496-09.2010.

Supplemental Content

Loading ...
Support Center