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The FEBS Journal|January 29, 2022
The mitochondrial protein Sideroflexin 3 (SFXN3) influences neurodegeneration pathways in vivoLeire M Ledahawsky, Maria Eirini Terzenidou, Ruairidh Edwards, et al.
Human Molecular Genetics|March 17, 2025
A de novo deletion underlying spinal muscular atrophy: implications for carrier testing and genetic counselingMaria M Zwartkruis, Mirjam S de Pagter, Demi Gommers, et al.
Clinical Chemistry and Laboratory Medicine|January 12, 2024
Neurofilament light protein as a biomarker for spinal muscular atrophy: a review and reference rangesSherif Bayoumy, Inge M W Verberk, Lisa Vermunt, et al.
Molecular Therapy. Methods & Clinical Development|December 10, 2024
Patient-specific responses to <i>SMN2</i> splice-modifying treatments in spinal muscular atrophy fibroblastsIlaria Signoria, Maria M Zwartkruis, Lotte Geerlofs, et al.
Brain Communications|November 16, 2022
Population-based assessment of nusinersen efficacy in children with spinal muscular atrophy: a 3-year follow-up studyFéline E V Scheijmans, Inge Cuppen, Ruben P A van Eijk, et al.
Journal of Neuroinflammation|April 17, 2024
IgM anti-GM2 antibodies in patients with multifocal motor neuropathy target Schwann cells and are associated with early onsetKevin Budding, Jeroen W Bos, Kim Dijkxhoorn, et al.
Archives of Neurology|February 10, 2010
FUS mutations in familial amyotrophic lateral sclerosis in the NetherlandsEwout J N Groen, Michael A van Es, Paul W J van Vught, et al.
Plos Genetics|April 21, 2017
Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophyPenelope J Boyd, Wen-Yo Tu, Hannah K Shorrock, et al.
Neurology. Genetics|February 12, 2020
Analysis of <i>FUS</i>, <i>PFN2, TDP-43</i>, and <i>PLS3</i> as potential disease severity modifiers in spinal muscular atrophyRenske I Wadman, Marc D Jansen, Chantall A D Curial, et al.
Acta Neuropathologica|May 12, 2016
Comparative interactomics analysis of different ALS-associated proteins identifies converging molecular pathwaysAnna M Blokhuis, Max Koppers, Ewout J N Groen, et al.
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