Browsing by Author "Voermans, N.C."

Now showing items 1-50 of 185

Reduced specific force in patients with mild and severe facioscapulohumeral muscular dystrophy
Lassche, S. ; Voermans, N.C. ; Schreuder, T.H.A. ; Heerschap, A. ; Kusters, B. ; Ottenheijm, C.A.C. ; Hopman, M.T.E. ; Engelen, B.G.M. van
2021, Article / Letter to editor (Muscle and Nerve, vol. 63, iss. 1, (2021), pp. 60-67)
Correlation Between Quantitative MRI and Muscle Histopathology in Muscle Biopsies from Healthy Controls and Patients with IBM, FSHD and OPMD
Lassche, S. ; Kusters, B. ; Heerschap, A. ; Schyns, M.V.P.; Ottenheijm, C.A.C. ; Voermans, N.C. ; Engelen, B.G.M. van
2020, Article / Letter to editor (Journal of Neuromuscular Diseases, vol. 7, iss. 4, (2020), pp. 495-504)
Different phenotypes in dermatomyositis associated with anti-MDA5 antibody: Study of 121 cases
Allenbach, Yves; Uzunhan, Yurdagul; Toquet, Segolene; Leroux, Gaelle; Gallay, Laure; Marquet, Alicia; Voermans, N.C. ; Nunes, H.; Benveniste, O.
2020, Article / Letter to editor (Neurology, vol. 95, iss. 1, (2020), pp. E70-E78)
Muscle ultrasound is a responsive biomarker in facioscapulohumeral dystrophy
Goselink, R.J.M. ; Schreuder, T.H.A. ; Mul, K. ; Voermans, N.C. ; Erasmus, C.E. ; Engelen, B.G.M. van ; Alfen, N. van
2020, Article / Letter to editor (Neurology, vol. 94, iss. 14, (2020), pp. E1488-E1494)
Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome
Donkervoort, S.; Mohassel, P.; Laugwitz, L.; Zaki, M.S.; Kamsteeg, E.J. ; Maroofian, R.; Chao, K.R.; Verschuuren-Bemelmans, C.C.; Horber, V.; Fock, A.J.M.; McCarty, R.M.; Jain, M.S.; Biancavilla, V.; McMacken, G.; Nalls, M.; Voermans, N.C. ; Elbendary, H.M.; Snyder, M.; Cai, C.; Lehky, T.J.; Stanley, V.; Iannaccone, S.T.; Foley, A.R.; Lochmüller, H.; Gleeson, J.; Houlden, H.; Haack, T.B.; Horvath, R.; Bönnemann, C.G. et al. sine al.
2020, Article / Letter to editor (American Journal of Medical Genetics. Part A, vol. 182, iss. 10, (2020), pp. 2272-2283)
HyperCKemia and rhabdomyolysis in the neuroleptic malignant and serotonin syndromes: A literature review
Kruijt, N.; Bersselaar, L.R. van den ; Wijma, J.; Verbeeck, W.J.; Coenen, M.J.H. ; Neville, J.; Snoeck, M.; Kamsteeg, E.J. ; Jungbluth, H.; Kramers, C. ; Voermans, N.C. et al. sine al.
2020, Article / Letter to editor (Neuromuscular Disorders, vol. 30, iss. 12, (2020), pp. 949-958)
[Exertional heat stroke in athletes and soldiers]
Bersselaar, L.R. van den ; Bongers, C.C.W.G.; Eijsvogels, T.M.H. ; Hopman, M.T.E. ; Rijswick, M.H. van; Kruijt, N.; Peters, V.; Snoeck, M.M.J.; Voermans, N.C.
2020, Article / Letter to editor (Nederlands Tijdschrift voor Geneeskunde, vol. 164, (2020), article D5190)
Adaptive thermogenesis enhances the life-threatening response to heat in mice with an Ryr1 mutation
Wang, Hui J.; Lee, Chang Seok; Yee, Rachel Sue Zhen; Groom, Linda; Friedman, Inbar; Babcock, Lyle; Voermans, N.C. ; Riazi, S.; Hamilton, Susan L.
2020, Article / Letter to editor (Nature Communications, vol. 11, iss. 1, (2020), article 5099)
Evaluation of blood gene expression levels in facioscapulohumeral muscular dystrophy patients
Signorelli, M.; Mason, A.G.; Mul, K. ; Evangelista, T.; Mei, Hailiang; Voermans, N.C. ; Engelen, B.G.M. van ; Maarel, S.M. van der; Spitali, P.
2020, Article / Letter to editor (Scientific Reports, vol. 10, iss. 1, (2020), article 17547)
Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)
Scalco, R.S.; Lucia, A.; Santalla, Alfredo; Martinuzzi, Andrea; Vavla, Marinela; Reni, Gianluigi; Voermans, N.C. ; Kouwenberg, C.V.; Quinlivan, R.; Vissing, J.
2020, Article / Letter to editor (Orphanet Journal of Rare Diseases, vol. 15, iss. 1, (2020), article 330)
Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots
Conte, F. ; Morava, E. ; Abu Bakar, N.; Wortmann, S.B.; Poerink, A.J.; Grunewald, S.; Crushell, E.; Al-Gazali, L.; Vries, M.C. de ; MØrkrid, L.; Hertecant, J.; Holmefjord, K.S.B.; Kronn, D.; Feigenbaum, A.; Fingerhut, R.; Wong, S.Y.W.; Scherpenzeel, M. van ; Voermans, N.C. ; Lefeber, D.J. et al. sine al.
2020, Article / Letter to editor (Molecular Genetics and Metabolism, vol. 131, iss. 1-2, (2020), pp. 135-146)
250th ENMC International Workshop: Clinical trial readiness in nemaline myopathy 6-8 September 2019, Hoofdorp, the Netherlands
Neuhaus, S.B.; Wallgren-Pettersson, C. ; Bönnemann, C.G.; Doorduin, J. ; Voermans, N.C. ; Schara, U.; Servais, L.
2020, Article / Letter to editor (Neuromuscular Disorders, vol. 30, iss. 10, (2020), pp. 866-875)
KBTBD13 is an actin-binding protein that modulates muscle kinetics
Winter, Josine M. de; Molenaar, J.P. ; Yuen, M.; Pijl, Robbert van der; Shen, S.; Conijn, Stefan; Kleef, E.S.B. van ; Lassche, S. ; Rodenburg, R.J.T. ; Kusters, B. ; Doorduin, J. ; Engelen, B.G.M. van ; Voermans, N.C. ; Ottenheijm, C.A.C. et al. sine al.
2020, Article / Letter to editor (Journal of Clinical Investigation, vol. 130, iss. 2, (2020), pp. 754-767)
Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients
Molenaar, J.P.F. ; Verhoeven, J.I. ; Rodenburg, R.J.T. ; Kamsteeg, E.J. ; Erasmus, C.E. ; Vicart, S.; Behin, A.; Bassez, G.; Magot, A.; Pereon, Y.; Brandom, B.W.; Guglielmi, V.; Vattemi, G.; Chevessier, F.; Mathieu, J.; Franques, J.; Suetterlin, K.; Hanna, M.G.; Guyant-Marechal, L.; Snoeck, M.M.; Roberts, M.E.; Kuntzer, T.; Fernandez-Torron, R.; Martinez-Arroyo, A.; Seeger, J.; Kusters, B. ; Treves, S.; Engelen, B.G.M. van ; Eymard, B.; Voermans, N.C. ; Sternberg, D. et al. sine al.
2020, Article / Letter to editor (Brain, vol. 143, iss. 2, (2020), pp. 452-466)
Preserved single muscle fiber specific force in facioscapulohumeral muscular dystrophy
Lassche, S. ; Voermans, N.C. ; Pijl, R. van der; Berg, Marloes van den; Heerschap, A. ; Hees, H.W. van ; Kusters, B. ; Maarel, Silvere M. van der; Ottenheijm, C.A.C. ; Engelen, B.G.M. van
2020, Article / Letter to editor (Neurology, vol. 94, iss. 11, (2020), pp. e1157-e1170)
Myostatin: a Circulating Biomarker Correlating with Disease in Myotubular Myopathy Mice and Patients
Koch, C.; Buono, S.; Menuet, A.; Robé, A.; Djeddi, S.; Kretz, C.; Gomez-Oca, R.; Depla, M.; Monseur, A.; Thielemans, L.; Servais, L.; Voermans, N.C. ; Laporte, J.; Cowling, B.S. et al. sine al.
2020, Article / Letter to editor (Molecular Therapy. Methods & Clinical Development, vol. 17, (2020), pp. 1178-1189)
Intracellular calcium leak as a therapeutic target for RYR1-related myopathies
Kushnir, A.; Todd, J.J.; Witherspoon, J.W.; Yuan, Q.; Reiken, S.; Lin, H.; Munce, R.H.; Wajsberg, B.; Melville, Z.; Clarke, O.B.; Wedderburn-Pugh, K.; Wronska, A.; Razaqyar, M.S.; Chrismer, I.C.; Shelton, M.O.; Mankodi, A.; Grunseich, C.; Tarnopolsky, M.A.; Tanji, K.; Hirano, M.; Riazi, S.; Kraeva, N.; Voermans, N.C. ; Gruber, A.; Allen, C.; Meilleur, K.G.; Marks, A.R. et al. sine al.
2020, Article / Letter to editor (Acta Neuropathologica, vol. 139, iss. 6, (2020), pp. 1089-1104)
Scapular dyskinesis in myotonic dystrophy type 1: clinical characteristics and genetic investigations
Voermans, N.C. ; Bilt, R.C. van der; Ijspeert, J.; Hogrel, J.Y.; Jeanpierre, M.; Behin, A.; Engelen, B.G.M. van ; Padberg, G.W. ; Eymard, B.; Bassez, G.
2019, Article / Letter to editor (Journal of Neurology, vol. 266, iss. 12, (2019), pp. 2987-2996)
High incidence of falls in patients with myotonic dystrophy type 1 and 2: A prospective study
Berends, Joost; Tieleman, A.A. ; Horlings, G.C. ; Smulders, Fran H. P.; Voermans, N.C. ; Engelen, B.G.M. van ; Raaphorst, J.
2019, Article / Letter to editor (Neuromuscular Disorders, vol. 29, iss. 10, (2019), pp. 758-765)
SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain
Lemmers, R.; Stoep, N. van der; Vliet, P.J.V.; Moore, S.A.; San Leon Granado, D.; Johnson, K.; Topf, A.; Straub, V.; Evangelista, T.; Mozaffar, T.; Kimonis, V.; Shaw, N.D.; Selvatici, R.; Ferlini, A.; Voermans, N.C. ; Engelen, B.G.M. van ; Sacconi, S.; Tawil, R.; Lamers, M.; Maarel, S.M. van der et al. sine al.
2019, Article / Letter to editor (Journal of Medical Genetics, vol. 56, iss. 10, (2019), pp. 693-700)
Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-l-Ribitol Pyrophosphorylase A Muscular Dystrophy
Tol, W. van ; Scherpenzeel, M. van ; Alsady, M. ; Riemersma, M. ; Hermans, E. ; Kragt, E.; Tasca, G.; Kamsteeg, E.J. ; Pennings, M.; Beusekom, E. van ; Vermeulen, J.R.; Bokhoven, H. van ; Voermans, N.C. ; Willemsen, M.A. ; Ashikov, A.M. ; Lefeber, D.J. et al. sine al.
2019, Article / Letter to editor (Clinical Chemistry, vol. 65, iss. 10, (2019), pp. 1295-1306)
Early onset as a marker for disease severity in facioscapulohumeral muscular dystrophy
Goselink, R.J.M. ; Mul, K. ; Kernebeek, C.R. van ; Lemmers, R.; Maarel, S.M. van der; Schreuder, T.H.A. ; Erasmus, C.E. ; Padberg, G.W. ; Statland, J.M.; Voermans, N.C. ; Engelen, B.G.M. van et al. sine al.
2019, Article / Letter to editor (Neurology, vol. 92, iss. 4, (2019), pp. e378-e385)
The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations
Knuiman, G.J.; Kusters, B. ; Eshuis, L.; Snoeck, M.; Lammens, M.; Heytens, L.; Ridder, W. De; Baets, J.; Scalco, R.S.; Quinlivan, R.; Holton, J.; Bodi, I.; Wraige, E.; Radunovic, A.; Landenberg, C. von; Reimann, J.; Kamsteeg, E.J. ; Sewry, C.; Jungbluth, H.; Voermans, N.C. et al. sine al.
2019, Article / Letter to editor (Journal of Neurology, vol. 266, iss. 4, (2019), pp. 876-887)
Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients
Dam, Leroy ten; Frankhuizen, Wendy S.; Linssen, Wim H.J.P.; Straathof, C.S.; Niks, Erik H.; Faber, Karin; Voermans, N.C. ; Westra, D. ; Kooi, A.J. van der; Ginjaar, Ieke
2019, Article / Letter to editor (Clinical Genetics, vol. 96, iss. 2, (2019), pp. 126-133)
Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies
Bachmann, Christoph; Noreen, Faiza; Voermans, N.C. ; Schaer, Primo L.; Vissing, J.; Fock, J.M.; Kusters, B. ; Zorzato, F.; Treves, S.
2019, Article / Letter to editor (Human Mutation, vol. 40, iss. 7, (2019), pp. 962-974)
Skeletal muscle toxicity associated with tyrosine kinase inhibitor therapy in patients with chronic myeloid leukemia
Janssen, L. ; Frambach, S.J.C.M. ; Allard, N.A.E.; Hopman, M.T.E. ; Schirris, T.J.J.; Voermans, N.C. ; Rodenburg, R.J.T. ; Blijlevens, N.M.A. ; Timmers, S.
2019, Article / Letter to editor (Leukemia, vol. 33, iss. 8, (2019), pp. 2116-2120)
Author response: A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1
Voermans, N.C. ; Goselink, R.J.M.
2019, Article / Letter to editor (Neurology, vol. 92, iss. 13, (2019), pp. 637)
Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome
Syx, D.; Wandele, I. De; Symoens, S.; Rycke, R. de; Hougrand, O.; Voermans, N.C. ; Paepe, A. De; Malfait, F.
2019, Article / Letter to editor (Human Molecular Genetics, vol. 28, iss. 11, (2019), pp. 1853-1864)
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service
Westra, D. ; Schouten, M.I. ; Stunnenberg, B.C. ; Kusters, B. ; Saris, C.G.J. ; Erasmus, C.E. ; Engelen, B.G.M. van ; Bulk, S.; Verschuuren-Bemelmans, C.C.; Gerkes, E.H.; Geus, C. de; Zwaag, P.A. van der; Chan, S.; Chung, B.; Barge-Schaapveld, D.; Kriek, M.; Sznajer, Y.; Spaendonck-Zwarts, K.Y. van; Kooi, A.J. van der; Krause, A.; Schonewolf-Greulich, B.; Die-Smulders, C.E. de; Sallevelt, S.; Krapels, I.P.C. ; Rasmussen, M.; Maystadt, I.; Kievit, A.J.; Witting, N.; Pennings, M.; Meijer, R; Gillissen, C.; Kamsteeg, E.J. ; Voermans, N.C. et al. sine al.
2019, Article / Letter to editor (Journal of Neuromuscular Diseases, vol. 6, iss. 2, (2019), pp. 241-258)
Muscle fiber dysfunction contributes to weakness in inclusion body myositis
Lassche, S. ; Rietveld, A. ; Heerschap, A. ; Hees, H.W.H. van ; Hopman, M.T.E. ; Voermans, N.C. ; Saris, C.G.J. ; Engelen, B.G.M. van ; Ottenheijm, C.A.
2019, Article / Letter to editor (Neuromuscular Disorders, vol. 29, iss. 6, (2019), pp. 468-476)
Functional impairments, fatigue and quality of life in RYR1-related myopathies: A questionnaire study
Ruitenbeek, E. van; Custers, J.A.E. ; Verhaak, C.M. ; Snoeck, M.; Erasmus, C.E. ; Kamsteeg, E.J. ; Schouten, M.I. ; Engelen, B.G.M. van ; Jungbluth, H.; Voermans, N.C.
2019, Article / Letter to editor (Neuromuscular Disorders, vol. 29, iss. 1, (2019), pp. 30-38)
A novel role for the extracellular matrix glycoprotein-Tenascin-X in gastric function
Aktar, Rubina; Peiris, Madusha; Fikree, Asma; Eaton, S.; Kritas, Stamatiki; Kentish, Stephen J.; Voermans, N.C. ; Aziz, Qasim; Blackshaw, L.Ashley
2019, Article / Letter to editor (Journal of Physiology, vol. 597, iss. 6, (2019), pp. 1503-1515)
Evidence of ER stress and UPR activation in patients with Brody disease and Brody syndrome
Guglielmi, V.; Voermans, N.C. ; Oosterhof, A. ; Nowis, D.; Engelen, B.G.M. van ; Tomelleri, G.; Vattemi, G.
2018, Article / Letter to editor (Neuropathology and Applied Neurobiology, vol. 44, iss. 5, (2018), pp. 533-536)
Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction
Wesdorp, F.M.; Koning Gans, P.A.M. de; Schraders, M. ; Oostrik, J. ; Huijnen, M.A. ; Venselaar, H. ; Beynon, A.J. ; Gaalen, J. van ; Piai, V. ; Voermans, N.C. ; Rossum, M.M. van ; Hartel, B.P. ; Lelieveld, S.H.; Wiel, L.J.M. van de ; Verbist, B.M.; Rotteveel, L.J.C. ; Dooren, M.F. van; Lichtner, P.; Kunst, H.P.M. ; Feenstra, I. ; Admiraal, R.J.C. ; Yntema, H.G. ; Hoefsloot, L.H. ; Pennings, R.J.E. ; Kremer, H. et al. sine al.
2018, Article / Letter to editor (Human Genetics, vol. 137, iss. 5, (2018), pp. 389-400)
PREPL deficiency: delineation of the phenotype and development of a functional blood assay
Regal, Luc; Martensson, Emma; Maystadt, I.; Voermans, N.C. ; Lederer, Damien; Burlina, A.; Schouten, M.I. ; Kamsteeg, E.J. ; Creemers, John W.M.
2018, Article / Letter to editor (Genetics in Medicine, vol. 20, iss. 1, (2018), pp. 109-118)
MRI in sarcoglycanopathies: a large international cohort study
Tasca, Giorgio; Monforte, Mauro; Diaz-Manera, Jordi; Brisca, Giacomo; Semplicini, Claudio; D'Amico, Adele; Voermans, N.C. ; Engelen, B.G.M. van ; Ricci, Enzo; Bruno, Claudio
2018, Article / Letter to editor (Journal of Neurology, Neurosurgery, and Psychiatry, vol. 89, iss. 1, (2018), pp. 72-77)
Is Fatigue a Disease-Specific or Generic Symptom in Chronic Medical Conditions?
Menting, J.; Tack, C.J. ; Bleijenberg, G. ; Donders, R. ; Droogleever Fortuyn, H.A. ; Fransen, J. ; Kalkman, J.S. ; Strik-Albers, M.A.W. ; Alfen, N. van ; Voermans, N.C. ; Engelen, B.G.M. van ; Knoop, H. et al. sine al.
2018, Article / Letter to editor (Health Psychology, vol. 37, iss. 6, (2018), pp. 530-543)
Lifetime endogenous estrogen exposure and disease severity in female patients with facioscapulohumeral muscular dystrophy
Mul, K. ; Horlings, G.C. ; Voermans, N.C. ; Schreuder, T.H.A. ; Engelen, B.G.M. van
2018, Article / Letter to editor (Neuromuscular Disorders, vol. 28, iss. 6, (2018), pp. 508-511)
Two new cases of mitochondrial myopathy with exercise intolerance, hyperlactatemia and cardiomyopathy, caused by recessive SLC25A4 mutations
Tosserams, Anouk; Papadopoulos, Constantinos; Jardel, Claude; Lemiere, Isabelle; Romero, N.B.; Lonlay, Pascale De; Voermans, N.C. ; Hogrel, J.Y.; Laforet, P.
2018, Article / Letter to editor (Mitochondrion, vol. 39, (2018), pp. 26-29)
Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome
Witting, N.; Laforet, P.; Voermans, N.C. ; Roux-Buisson, N.; Bompaire, F.; Rendu, J.; Kamsteeg, E.J. ; Vissing, J.; Behin, A.
2018, Article / Letter to editor (Acta Neurologica Scandinavica, vol. 137, iss. 5, (2018), pp. 452-461)
Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study
Goselink, R.J.M. ; Schreuder, T.H.A. ; Alfen, N. van ; Groot, I.J.M. de ; Jansen, M. ; Lemmers, Richard J. L. F.; Theelen, T. ; Voermans, N.C. ; Engelen, B.G.M. van ; Erasmus, C.E.
2018, Article / Letter to editor (Annals of Neurology, vol. 84, iss. 5, (2018), pp. 627-637)
Quantitative muscle MRI and ultrasound for facioscapulohumeral muscular dystrophy: complementary imaging biomarkers
Mul, K. ; Horlings, G.C. ; Vincenten, S.C.C.; Voermans, N.C. ; Engelen, B.G.M. van ; Alfen, N. van
2018, Article / Letter to editor (Journal of Neurology, vol. 265, iss. 11, (2018), pp. 2646-2655)
Dejerine-Sottas disease in childhood-Genetic and sonographic heterogeneity
Hobbelink, Sanne M.R.; Brockley, Cain R.; Kennedy, Rachel A.; Carroll, Kate; Valle, Katy de; Rao, Padma; Voermans, N.C. ; Ryan, Monique M.; Yiu, Eppie M.
2018, Article / Letter to editor (Brain and Behavior, vol. 8, iss. 4, (2018), article e00919)
Graves' disease and celiac disease in a patient with myotonic dystrophy type 2
Damen, M.J.; Meer, A. van der ; Voermans, N.C. ; Tieleman, A.A.
2018, Article / Letter to editor (Neuromuscular Disorders, vol. 28, iss. 10, (2018), pp. 878-880)
Phenotype-genotype relations in facioscapulohumeral muscular dystrophy type 1
Mul, K. ; Voermans, N.C. ; Lemmers, Richard J. L. F.; Jonker, M.A. ; Vliet, Patrick J. van der; Padberg, G.W. ; Maarel, Silvere M. van der; Horlings, G.C.
2018, Article / Letter to editor (Clinical Genetics, vol. 94, iss. 6, (2018), pp. 521-527)
A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1
Wohlgemuth, M. ; Lemmers, Richard J.; Jonker, M.A. ; Kooi, Elly van der; Horlings, G.C. ; Engelen, B.G.M. van ; Padberg, G.W. ; Voermans, N.C.
2018, Article / Letter to editor (Neurology, vol. 91, iss. 5, (2018), pp. E444-E454)
Repeatability and reliability of muscle relaxation properties induced by motor cortical stimulation
Molenaar, J.P. ; Voermans, N.C. ; Jong, L.A de; Stegeman, D.F. ; Doorduin, J. ; Engelen, B.G.M. van
2018, Article / Letter to editor (Journal of Applied Physiology, vol. 124, iss. 6, (2018), pp. 1597-1604)
FSHD type 2 and Bosma arhinia microphthalmia syndrome Two faces of the same mutation
Mul, K. ; Lemmers, Richard J. L. F.; Kriek, M.; Vliet, P.J. van der; Boogaard, M.L. van den; Badrising, U.A.; Voermans, N.C. ; Engelen, B.G.M. van ; Horlings, G.C. ; Shaw, N.D.; Maarel, S.M. van der et al. sine al.
2018, Article / Letter to editor (Neurology, vol. 91, iss. 6, (2018), pp. E562-E570)
Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency
AbuBakar, N. Bin ; Voermans, N.C. ; Marquardt, T.; Thiel, C; Janssen, M.C.H. ; Hansikova, H.; Crushell, E.; Sykut-Cegielska, J.; Bowling, F.; MØrkrid, L.; Vissing, J.; Morava, E. ; Scherpenzeel, M. van ; Lefeber, D.J. et al. sine al.
2018, Article / Letter to editor (Translational Research, vol. 199, (2018), pp. 62-76)
Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2
Lemmers, Richard J. L. F.; Vliet, P.J. van der; Vreijling, Jeroen P.; Henderson, D.; Stoep, N. van der; Voermans, N.C. ; Engelen, B.G.M. van ; Tawil, R.; Maarel, S.M. van der
2018, Article / Letter to editor (Human Molecular Genetics, vol. 27, iss. 20, (2018), pp. 3488-3497)

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