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Journal of Neurology, Neurosurgery, and Psychiatry|June 17, 2010
Quantification of SMN protein in leucocytes from spinal muscular atrophy patients: effects of treatment with valproic acidSanne Piepers, Jan-Maarten Cobben, Peter Sodaar, et al.
Plos One|November 29, 2016
A Comparative Study of SMN Protein and mRNA in Blood and Fibroblasts in Patients with Spinal Muscular Atrophy and Healthy ControlsRenske I Wadman, Marloes Stam, Marc D Jansen, et al.
Neurology. Genetics|June 25, 2021
SMN1 Duplications Are Associated With Progressive Muscular Atrophy, but Not With Multifocal Motor Neuropathy and Primary Lateral SclerosisJeroen W Bos, Ewout J N Groen, Renske I Wadman, et al.
NMR in Biomedicine|July 19, 2020
Quantitative MRI of skeletal muscle in a cross-sectional cohort of patients with spinal muscular atrophy types 2 and 3Louise A M Otto, W-Ludo van der Pol, Lara Schlaffke, et al.
Brain Communications|September 21, 2020
Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophyRenske I Wadman, Marc D Jansen, Marloes Stam, et al.
Journal of Neurology|January 1, 2015
Association of IgM monoclonal gammopathy with progressive muscular atrophy and multifocal motor neuropathy: a case-control studyLotte Vlam, Sanne Piepers, Nadia A Sutedja, et al.
European Journal of Neurology|December 10, 2025
Motor Unit Patterns Correlate With Severity in Symptomatic Patients With Spinal Muscular AtrophyLeandra A A Ros, W Ludo van der Pol, Diederik J L Stikvoort García, et al.
BMJ Open|August 1, 2018
Protocol for a phase II, monocentre, double-blind, placebo-controlled, cross-over trial to assess efficacy of pyridostigmine in patients with spinal muscular atrophy types 2-4 (SPACE trial)Marloes Stam, Renske I Wadman, Camiel A Wijngaarde, 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.
Molecular Therapy. Methods & Clinical Development|December 10, 2024
Patient-specific responses to SMN2 splice-modifying treatments in spinal muscular atrophy fibroblastsIlaria Signoria, Maria M Zwartkruis, Lotte Geerlofs, et al.
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