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Browsing by Author "Voermans, N.C."
Now showing items 1-50 of 175
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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.; et al.2020, Article / Letter to editor (Acta Neuropathologica, vol. 139, iss. 6, (2020), pp. 1089-1104)
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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.; et al.2020, Article / Letter to editor (Molecular Therapy. Methods & Clinical Development, vol. 17, (2020), pp. 1178-1189)
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Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients ; ; ; ; ; Vicart, S.; Behin, A.; Bassez, G.; Magot, A.; Pereon, Y.; et al.2020, Article / Letter to editor (Brain, vol. 143, iss. 2, (2020), pp. 452-466)
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KBTBD13 is an actin-binding protein that modulates muscle kinetics Winter, Josine M. de; ; Yuen, M.; Pijl, Robbert van der; Shen, S.; Conijn, Stefan; ; ; ; ; et al.2020, Article / Letter to editor (Journal of Clinical Investigation, vol. 130, iss. 2, (2020), pp. 754-767)
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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.; et al.2019, Article / Letter to editor (Journal of Medical Genetics, vol. 56, iss. 10, (2019), pp. 693-700)
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The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations Knuiman, G.J.; ; Eshuis, L.; Snoeck, M.; Lammens, M.; Heytens, L.; Ridder, W. De; Baets, J.; Scalco, R.S.; Quinlivan, R.; et al.2019, Article / Letter to editor (Journal of Neurology, vol. 266, iss. 4, (2019), pp. 876-887)
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Early onset as a marker for disease severity in facioscapulohumeral muscular dystrophy ; ; ; Lemmers, R.; Maarel, S.M. van der; ; ; ; Statland, J.M.; ; et al.2019, Article / Letter to editor (Neurology, vol. 92, iss. 4, (2019), pp. e378-e385)
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Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service ; ; ; ; ; ; ; Bulk, S.; Verschuuren-Bemelmans, C.C.; Gerkes, E.H.; et al.2019, Article / Letter to editor (Journal of Neuromuscular Diseases, vol. 6, iss. 2, (2019), pp. 241-258)
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Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-l-Ribitol Pyrophosphorylase A Muscular Dystrophy ; ; ; ; ; Kragt, E.; Tasca, G.; ; Pennings, M.; ; et al.2019, Article / Letter to editor (Clinical Chemistry, vol. 65, iss. 10, (2019), pp. 1295-1306)
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FSHD type 2 and Bosma arhinia microphthalmia syndrome Two faces of the same mutation ; Lemmers, Richard J. L. F.; Kriek, M.; Vliet, P.J. van der; Boogaard, M.L. van den; Badrising, U.A.; ; ; ; Shaw, N.D.; et al.2018, Article / Letter to editor (Neurology, vol. 91, iss. 6, (2018), pp. E562-E570)
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Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency ; ; Marquardt, T.; Thiel, C; ; Hansikova, H.; Crushell, E.; Sykut-Cegielska, J.; Bowling, F.; MØrkrid, L.; et al.2018, Article / Letter to editor (Translational Research, vol. 199, (2018), pp. 62-76)
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Is Fatigue a Disease-Specific or Generic Symptom in Chronic Medical Conditions? Menting, J.; ; ; ; ; ; ; ; ; ; et al.2018, Article / Letter to editor (Health Psychology, vol. 37, iss. 6, (2018), pp. 530-543)
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Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction Wesdorp, F.M.; Koning Gans, P.A.M. de; ; ; ; ; ; ; ; ; et al.2018, Article / Letter to editor (Human Genetics, vol. 137, iss. 5, (2018), pp. 389-400)
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Skeletal muscle morphology, protein synthesis, and gene expression in Ehlers-Danlos syndrome Nygaard, R.H.; Jensen, J.K.; ; Heinemeier, K.M.; Schjerling, P.; Holm, L.; Agergaard, J.; Mackey, A.L.; Andersen, J.L.; Remvig, L.; et al.2017, Article / Letter to editor (Journal of Applied Physiology, vol. 123, iss. 2, (2017), pp. 482-488)
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Neurological and spinal manifestations of the Ehlers-Danlos syndromes Henderson, F.C.; Austin, C.; Benzel, E.; Bolognese, P.; Ellenbogen, R.; Francomano, C.A.; Ireton, C.; Klinge, P.; Koby, M.; Long, D.; et al.2017, Article / Letter to editor (American Journal of Medical Genetics Part C : Seminars in Medical Genetics, vol. 175, iss. 1, (2017), pp. 195-211)
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Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues Biancalana, V.; Scheidecker, S.; Miguet, M.; Laquerriere, A.; Romero, N.B.; Stojkovic, T.; Neto, O. Abath; Mercier, S.; ; Tanner, L.; et al.2017, Article / Letter to editor (Acta Neuropathologica, vol. 134, iss. 6, (2017), pp. 889-904)
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