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Auteur van der Pol WL |
Documents disponibles écrits par cet auteur (40)



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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
Revue : Journal of Neuromuscular Diseases Titre : Feeding and Swallowing Problems in Infants with Spinal Muscular Atrophy Type 1: an Observational Study Type de document : Article Auteurs : van der Heul AMB, Auteur ; Cuppen I ; Wadman RI ; Asselman F ; Schoenmakers MAGC ; van de Woude DR ; Gerrits E ; van der Pol WL ; van den Engel-Hoek L Editeur : Netherlands Année de publication : 04/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32333596 / DOI : 10.3233/JND-190465
N° Profil MNM : 2020042 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32333596 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Population-based analysis of survival in spinal muscular atrophy
Wijngaarde CA, Stam M, Otto LAM, et al.
Neurology, 2020, 94, 15
Revue : Neurology, 94, 15 Titre : Population-based analysis of survival in spinal muscular atrophy Type de document : Article Auteurs : Wijngaarde CA ; Stam M ; Otto LAM ; van Eijk RPA ; Cuppen I ; Veldhoen ES ; van den Berg LH ; Wadman RI ; van der Pol WL Editeur : United States Année de publication : 04/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32217777 / DOI : 10.1212/WNL.0000000000009248
N° Profil MNM : 2020032 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32217777 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
Revue : Orphanet journal of rare diseases, 15, 1 Titre : Natural history of lung function in spinal muscular atrophy Type de document : Article Auteurs : Wijngaarde CA, Auteur ; Veldhoen ES ; van Eijk RPA ; Stam M ; Otto LAM ; Asselman FL ; WÃ sten-van Asperen RM ; Hulzebos EHJ ; Verweij-van den Oudenrijn LP ; Bartels B ; Cuppen I ; Wadman RI ; van den Berg LH ; van der Ent CK ; van der Pol WL Année de publication : 04/2020 Pages : p 88 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32276635 / DOI : 10.1186/s13023-020-01367-y
N° Profil MNM : 2020041 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32276635 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
Revue : European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society Titre : European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy Type de document : Article Auteurs : Kirschner J ; Butoianu N ; Goemans N ; Haberlova J ; Kostera-Pruszczyk A ; Mercuri E ; van der Pol WL ; Quijano-Roy S ; Sejersen T ; Tizzano EF ; Ziegler A ; Servais L ; Muntoni F Année de publication : 2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32763124 / DOI : 10.1016/j.ejpn.2020.07.001
N° Profil MNM : 2020081 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32763124 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
Revue : Journal of inherited metabolic disease Titre : Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiency Type de document : Article Auteurs : Bleeker JC ; Visser G ; Clarke K ; Ferdinandusse S ; de Haan FH ; Houtkooper RH ; Ijlst L ; Kok IL ; Langeveld M ; van der Pol WL ; de Sain-van der Velden MGM ; Sibeijn-Kuiper A ; Takken T ; Wanders RJA ; van Weeghel M ; Wijburg FA ; van der Woude LH ; Wust RCI ; Cox PJ ; Jeneson JAL Editeur : United States Année de publication : 01/2020 Langues : Anglais (eng) Mots-clés : alimentation-nutrition ; déficit en acyl-CoA déshydrogénase ; essai clinique ; lipidose musculaire ; maladie neuromusculaire ; myopathie métabolique héréditaire ; prise en charge thérapeutique Lien associé : NCT03531554 Pubmed / DOI : Pubmed : 31955429 / DOI : 10.1002/jimd.12217
N° Profil MNM : 2020012 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31955429 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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