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Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology|November 9, 2025
Respiratory muscle activity and fatigue response during respiratory endurance testing in patients with spinal muscular atrophyKim Kant-Smits, Lisa Pomp, Laura E Habets, 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 <i>SMN2</i> splice-modifying treatments in spinal muscular atrophy fibroblastsIlaria Signoria, Maria M Zwartkruis, Lotte Geerlofs, et al.
Neurology|June 6, 2019
Natural course of scoliosis and lifetime risk of scoliosis surgery in spinal muscular atrophyCamiel A Wijngaarde, Rob C Brink, Floor A S de Kort, et al.
Neurology|May 7, 2026
Lung Function and Respiratory Muscle Strength in Symptomatic Children and Adults With Spinal Muscular Atrophy Treated With NusinersenFemke Vercoelen, Lieke A P Arts, Marit E M de Bruijne, 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.
Orphanet Journal of Rare Diseases|April 12, 2020
Natural history of lung function in spinal muscular atrophyCamiel A Wijngaarde, Esther S Veldhoen, Ruben P A van Eijk, et al.
Orphanet Journal of Rare Diseases|February 22, 2022
Natural history of respiratory muscle strength in spinal muscular atrophy: a prospective national cohort studyEsther S Veldhoen, Camiel A Wijngaarde, Erik H J Hulzebos, et al.
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