Détail de l'auteur
Documents disponibles écrits par cet auteur (40)
trié(s) par (Pertinence décroissant(e), Date de parution décroissant(e), Date de parution décroissant(e), Système de projection du document croissant(e)) | Mettre toutes les notices dans le panier | Faire une suggestion | Ajouter un critère de recherche
Feeding and Swallowing Problems in Infants with Spinal Muscular Atrophy Type 1: an Observational Study
van der Heul AMB, Cuppen I, Wadman RI, et al.
Journal of Neuromuscular Diseases, 2020
Population-based analysis of survival in spinal muscular atrophy
Wijngaarde CA, Stam M, Otto LAM, et al.
Neurology, 2020, 94, 15
Natural history of lung function in spinal muscular atrophy
Wijngaarde CA, Veldhoen ES, van Eijk RPA, et al.
Orphanet journal of rare diseases, 2020, 15, 1, p 88
European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy
Kirschner J, Butoianu N, Goemans N, et al.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2020
Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiency
Bleeker JC, Visser G, Clarke K, et al.
Journal of inherited metabolic disease, 2020
Quantitative MRI of skeletal muscle in a cross-sectional cohort of patients with spinal muscular atrophy types 2 and 3
Otto LAM, van der Pol WL, Schlaffke L, et al.
NMR in biomedicine, 2020
Biomarker profiles of endothelial activation and dysfunction in rare systemic autoimmune diseases: implications for cardiovascular risk
Wienke J, Mertens JS, Garcia S, et al.
Rheumatology (Oxford, England), 2020
Drug treatment for spinal muscular atrophy types II and III
Wadman RI, van der Pol WL, Bosboom WM, et al.
The Cochrane database of systematic reviews, 2020, 1
Drug treatment for spinal muscular atrophy type I
Wadman RI, van der Pol WL, Bosboom WM, et al.
The Cochrane database of systematic reviews, 2019, 12
Abnormal coagulation parameters are a common non-neuromuscular feature in patients with spinal muscular atrophy
Wijngaarde CA, Huisman A, Wadman RI, et al.
Journal of neurology, neurosurgery, and psychiatry, 2019
Natural course of scoliosis and lifetime risk of scoliosis surgery in spinal muscular atrophy.
Wijngaarde CA, Brink RC, de Kort FAS, et al.
Neurology, 2019
Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes
Bleeker JC, Bleeker JC, Kok IL, et al.
Journal of inherited metabolic disease, 2019, 42, 3, p 414
Participation and mental well-being of mothers of home-living patients with spinal muscular atrophy
Cremers CH, Cremers CH, Fischer MJ, et al.
Neuromuscular disorders : NMD, 2019, 29, 4, p 321
Galectin-9 and CXCL10 as biomarkers for disease activity in juvenile dermatomyositis: a longitudinal cohort study and multi-cohort validation
Wienke J, Bellutti Enders F, Lim J, et al.
Arthritis & rheumatology (Hoboken, N.J.), 2019
Assessment of fatigability in patients with spinal muscular atrophy: development and content validity of a set of endurance tests
Bartels B, Habets LE, Stam M, et al.
BMC neurology, 2019, 19, 1
Psychological well-being in adults with spinal muscular atrophy: the contribution of participation and psychological needs
Fischer MJ, Asselman FL, Kruitwagen-van Reenen ET, et al.
Disability and rehabilitation, 2019
Bulbar Problems Self-Reported by Children and Adults with Spinal Muscular Atrophy
van der Heul AMB, Wijngaarde CA, Wadman RI, et al.
Journal of Neuromuscular Diseases, 2019, 6, 3, p 361
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)
Stam M, Stam M, Wadman RI, et al.
BMJ Open, 2018, 8, 7
Limited maximal mouth opening in patients with spinal muscular atrophy complicates endotracheal intubation: An observational study
Wijngaarde CA, Wijngaarde CA, Stam M, et al.
European journal of anaesthesiology, 2018, 35, 8, p 629
Muscle strength and motor function throughout life in a cross-sectional cohort of 180 patients with spinal muscular atrophy types 1c-4
Wadman RI, Wijngaarde CA, Stam M, et al.
European journal of neurology, 2018, 25, 3, p 512
Association of motor milestones, SMN2 copy and outcome in spinal muscular atrophy types 0-4
Wadman RI, Stam M, Gijzen M, et al.
Journal of neurology, neurosurgery, and psychiatry, 2017, 88, 4, p 365
Cardiac pathology in spinal muscular atrophy: a systematic review
Wijngaarde CA, Blank AC, Stam M, et al.
Orphanet journal of rare diseases, 2017, 12, 1
Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial
Bertini E, Dessaud E, Mercuri E, et al.
The Lancet. Neurology, 2017, 16, 7, p 513
Correlates of health related quality of life in adult patients with Spinal Muscular Atrophy
Kruitwagen-van Reenen ET, Wadman RI, Visser-Meily JM, et al.
Muscle & Nerve, 2016, 54, 5, p 850
Mandibular dysfunction as a reflection of bulbar involvement in SMA type 2 and 3
van Bruggen HW, Wadman RI, Bronkhorst EM, et al.
Neurology, 2016, 86, 6, p 552
