Articles with public access mandates - Nicol VoermansLearn more
Not available anywhere: 10
Prior medical conditions and the risk of amyotrophic lateral sclerosis
M Seelen, PTC van Doormaal, AE Visser, MHB Huisman, ...
Journal of neurology 261, 1949-1956, 2014
Mandates: Netherlands Organisation for Health Research and Development
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues
V Biancalana, S Scheidecker, M Miguet, A Laquerrière, NB Romero, ...
Acta neuropathologica 134, 889-904, 2017
Mandates: National Institute of Health and Medical Research, France, Fondazione …
Bi-allelic AEBP1 mutations in two patients with Ehlers–Danlos syndrome
D Syx, I De Wandele, S Symoens, R De Rycke, O Hougrand, N Voermans, ...
Human Molecular Genetics 28 (11), 1853-1864, 2019
Mandates: Research Foundation (Flanders)
PGM1 deficiency: substrate use during exercise and effect of treatment with galactose
NC Voermans, N Preisler, KL Madsen, MCH Janssen, B Kusters, ...
Neuromuscular Disorders 27 (4), 370-376, 2017
Mandates: Netherlands Organisation for Scientific Research, Netherlands Organisation …
Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy
N Kraeva, L Heytens, H Jungbluth, S Treves, N Voermans, E Kamsteeg, ...
Neuromuscular Disorders 25 (7), 567-576, 2015
Mandates: Swiss National Science Foundation
Large-scale screening in sporadic amyotrophic lateral sclerosis identifies genetic modifiers in C9orf72 repeat carriers
AM Dekker, M Seelen, PTC van Doormaal, W van Rheenen, RJP Bothof, ...
Neurobiology of aging 39, 220. e9-220. e15, 2016
Mandates: European Commission, Netherlands Organisation for Health Research and …
Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-l-Ribitol Pyrophosphorylase A Muscular Dystrophy
W van Tol, M van Scherpenzeel, M Alsady, M Riemersma, E Hermans, ...
Clinical Chemistry 65 (10), 1295-1306, 2019
Mandates: Netherlands Organisation for Scientific Research, European Commission
A novel Ile1455Thr variant in the skeletal muscle sodium channel alpha-subunit in a patient with a severe adult-onset proximal myopathy with electrical myotonia and a patient …
M Bednarz, BC Stunnenberg, B Kusters, EJ Kamsteeg, CG Saris, ...
Neuromuscular Disorders 27 (2), 175-182, 2017
Mandates: US National Institutes of Health, Federal Ministry of Education and Research …
NEM6, KBTBD13-related congenital myopathy: myopathological analysis in 18 Dutch patients reveals ring rods fibers, cores, nuclear clumps, and granulo-filamentous protein material
K Bouman, B Küsters, JM De Winter, C Gillet, ESB Van Kleef, L Eshuis, ...
Journal of Neuropathology & Experimental Neurology 80 (4), 366-376, 2021
Mandates: US National Institutes of Health, Agence Nationale de la Recherche
P. 120EUROMAC: A European registry for patients with McArdle disease and other very rare muscle glycogenoses
T Pinós, R Scalco, A Lucia, M Martin, A Martinuzzi, A Toscano, ...
Neuromuscular Disorders 29, S83, 2019
Mandates: Government of Spain
Available somewhere: 74
Statin-induced myopathy is associated with mitochondrial complex III inhibition
TJJ Schirris, GH Renkema, T Ritschel, NC Voermans, A Bilos, ...
Cell metabolism 22 (3), 399-407, 2015
Mandates: German Research Foundation
Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis
N Dlamini, NC Voermans, S Lillis, K Stewart, EJ Kamsteeg, G Drost, ...
Neuromuscular Disorders 23 (7), 540-548, 2013
Mandates: US National Institutes of Health, UK Medical Research Council
Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice
Y Zou, D Zwolanek, Y Izu, S Gandhy, G Schreiber, K Brockmann, ...
Human molecular genetics 23 (9), 2339-2352, 2014
Mandates: US National Institutes of Health, Heart and Stroke Foundation of Canada …
Balance control in patients with distal versus proximal muscle weakness
CGC Horlings, UM Küng, BGM Van Engelen, NC Voermans, ...
Neuroscience 164 (4), 1876-1886, 2009
Mandates: Swiss National Science Foundation
A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene
S Løseth, NC Voermans, T Torbergsen, S Lillis, C Jonsrud, S Lindal, ...
Journal of neurology 260, 1504-1510, 2013
Mandates: UK Medical Research Council
Galactose in human metabolism, glycosylation and congenital metabolic diseases: Time for a closer look
F Conte, N van Buuringen, NC Voermans, DJ Lefeber
Biochimica et Biophysica Acta (BBA)-General Subjects 1865 (8), 129898, 2021
Mandates: Netherlands Organisation for Scientific Research
MRI in sarcoglycanopathies: a large international cohort study
G Tasca, M Monforte, J Díaz-Manera, G Brisca, C Semplicini, A D’Amico, ...
Journal of Neurology, Neurosurgery & Psychiatry 89 (1), 72-77, 2018
Mandates: National Institute for Health Research, UK, European Commission
Mutation‐specific effects on thin filament length in thin filament myopathy
JM Winter, B Joureau, EJ Lee, B Kiss, M Yuen, VA Gupta, CT Pappas, ...
Annals of neurology 79 (6), 959-969, 2016
Mandates: US National Institutes of Health, National Health and Medical Research …
Epigenetic changes as a common trigger of muscle weakness in congenital myopathies
O Rokach, M Sekulic-Jablanovic, N Voermans, J Wilmshurst, K Pillay, ...
Human molecular genetics 24 (16), 4636-4647, 2015
Mandates: Swiss National Science Foundation, British Heart Foundation, UK Medical …
Sarcomeric dysfunction contributes to muscle weakness in facioscapulohumeral muscular dystrophy
S Lassche, GJM Stienen, TC Irving, SM van der Maarel, NC Voermans, ...
Neurology 80 (8), 733-737, 2013
Mandates: US National Institutes of Health
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