Brody syndrome: a clinically heterogeneous entity distinct from Brody disease: a review of literature and a cross-sectional clinical study in 17 patients
Voermans, N C, Laan, A E, Oosterhof, A, van Kuppevelt, T H, Drost, G, Lammens, M, Kamsteeg, E J, Scotton, C, Gualandi, F, Guglielmi, V, van den Heuvel, L, Vattemi, G, van Engelen, B G
Published in Neuromuscular disorders : NMD (01.11.2012)
Published in Neuromuscular disorders : NMD (01.11.2012)
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Recognizing the tenascin‐X deficient type of Ehlers–Danlos syndrome: a cross‐sectional study in 17 patients
Demirdas, S., Dulfer, E., Robert, L., Kempers, M., van Beek, D., Micha, D., van Engelen, B.G., Hamel, B., Schalkwijk, J., Loeys, B., Maugeri, A., Voermans, N.C.
Published in Clinical genetics (01.03.2017)
Published in Clinical genetics (01.03.2017)
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Disease specificity of autoantibodies to cytosolic 5′-nucleotidase 1A in sporadic inclusion body myositis versus known autoimmune diseases
Herbert, Megan K, Stammen-Vogelzangs, Judith, Verbeek, Marcel M, Rietveld, Anke, Lundberg, Ingrid E, Chinoy, Hector, Lamb, Janine A, Cooper, Robert G, Roberts, Mark, Badrising, Umesh A, De Bleecker, Jan L, Machado, Pedro M, Hanna, Michael G, Plestilova, Lenka, Vencovsky, Jiri, van Engelen, Baziel G, Pruijn, Ger J M
Published in Annals of the rheumatic diseases (01.04.2016)
Published in Annals of the rheumatic diseases (01.04.2016)
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Autoantibodies to cytosolic 5′-nucleotidase 1A in inclusion body myositis
Pluk, Helma, van Hoeve, Bas J. A., van Dooren, Sander H. J., Stammen-Vogelzangs, Judith, van der Heijden, Annemarie, Schelhaas, Helenius J., Verbeek, Marcel M., Badrising, Umesh A., Arnardottir, Snjolaug, Gheorghe, Karina, Lundberg, Ingrid E., Boelens, Wilbert C., van Engelen, Baziel G., Pruijn, Ger J. M.
Published in Annals of neurology (01.03.2013)
Published in Annals of neurology (01.03.2013)
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Journal Article
Fatigue Is a Frequent and Clinically Relevant Problem in Ehlers-Danlos Syndrome
Voermans, Nicol C., MD, Knoop, Hans, PhD, van de Kamp, Nicole, MSc, Hamel, Ben C., MD, PhD, Bleijenberg, Gijs, PhD, van Engelen, Baziel G., MD, PhD
Published in Seminars in arthritis and rheumatism (01.12.2010)
Published in Seminars in arthritis and rheumatism (01.12.2010)
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Correlates of outcome and response to IVIg in 88 patients with multifocal motor neuropathy
Cats, E A, van der Pol, W-L, Piepers, S, Franssen, H, Jacobs, B C, van den Berg-Vos, R M, Kuks, J B, van Doorn, P A, van Engelen, B G, Verschuuren, J J, Wokke, J H, Veldink, J H, van den Berg, L H
Published in Neurology (31.08.2010)
Published in Neurology (31.08.2010)
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Neuromuscular involvement in various types of Ehlers-Danlos syndrome
Voermans, Nicol C., van Alfen, Nens, Pillen, Sigrid, Lammens, Martin, Schalkwijk, Joost, Zwarts, Machiel J., van Rooij, Iris A., Hamel, Ben C. J., van Engelen, Baziel G.
Published in Annals of neurology (01.06.2009)
Published in Annals of neurology (01.06.2009)
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Functional impairments, fatigue and quality of life in RYR1-related myopathies: A questionnaire study
van Ruitenbeek, E., Custers, J.A.E., Verhaak, C., Snoeck, M., Erasmus, C.E., Kamsteeg, E.J., Schouten, M.I., Coleman, C., Treves, S., Van Engelen, B.G., Jungbluth, H., Voermans, N.C.
Published in Neuromuscular disorders : NMD (01.01.2019)
Published in Neuromuscular disorders : NMD (01.01.2019)
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Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous mutation in lamin A/C gene
Muchir, Antoine, van Engelen, Baziel G, Lammens, Martin, Mislow, John M, McNally, Elizabeth, Schwartz, Ketty, Bonne, Gisèle
Published in Experimental cell research (10.12.2003)
Published in Experimental cell research (10.12.2003)
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High Frequency of Neuropathic Pain in Ehlers-Danlos Syndrome: An Association with Axonal Polyneuropathy and Compression Neuropathy?
Voermans, Nicol C., MD, Knoop, Hans, PhD, van Engelen, Baziel G., MD, PhD
Published in Journal of pain and symptom management (01.05.2011)
Published in Journal of pain and symptom management (01.05.2011)
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Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation
Voermans, N.C., Kempers, M., Lammens, M., van Alfen, N., Janssen, M.C., Bönnemann, C., van Engelen, B.G., Hamel, B.C.
Published in American journal of medical genetics. Part A (01.04.2012)
Published in American journal of medical genetics. Part A (01.04.2012)
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Clinical and molecular overlap between myopathies and inherited connective tissue diseases
Voermans, N.C, Bönnemann, C.G, Huijing, P.A, Hamel, B.C, van Kuppevelt, T.H, de Haan, A, Schalkwijk, J, van Engelen, B.G, Jenniskens, G.J
Published in Neuromuscular disorders : NMD (01.11.2008)
Published in Neuromuscular disorders : NMD (01.11.2008)
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Sleep disturbances in chronic progressive external ophthalmoplegia
Smits, B. W., Westeneng, H.J., van Hal, M. A., van Engelen, B. G., Overeem, S.
Published in European journal of neurology (01.01.2012)
Published in European journal of neurology (01.01.2012)
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Protein Complexes in the Archaeon Methanothermobacter thermautotrophicus Analyzed by Blue Native/SDS-PAGE and Mass Spectrometry
Farhoud, Murtada H, Wessels, Hans J C T, Steenbakkers, Peter J M, Mattijssen, Sandy, Wevers, Ron A, van Engelen, Baziel G, Jetten, Mike S M, Smeitink, Jan A, van den Heuvel, Lambert P, Keltjens, Jan T
Published in Molecular & cellular proteomics (01.11.2005)
Published in Molecular & cellular proteomics (01.11.2005)
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Proteasome-mediated degradation of integral inner nuclear membrane protein emerin in fibroblasts lacking A-type lamins
Muchir, Antoine, Massart, Catherine, van Engelen, Baziel G., Lammens, Martin, Bonne, Gisèle, Worman, Howard J.
Published in Biochemical and biophysical research communications (29.12.2006)
Published in Biochemical and biophysical research communications (29.12.2006)
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Neuromuscular features in Marfan syndrome
Voermans, NC, Timmermans, J, Van Alfen, N, Pillen, S, Op Den Akker, J, Lammens, M, Zwarts, MJ, Van Rooij, IALM, Hamel, BC, Van Engelen, BG
Published in Clinical genetics (01.07.2009)
Published in Clinical genetics (01.07.2009)
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