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Author/Creator Voermans, Nicol

1. A 22-year follow-up reveals a variable disease severity in early-onset facioscapulohumeral dystrophy. (September 2018)

Authors:
Goselink, Rianne J.M.; van Kernebeek, Caroline R.; Mul, Karlien; Lemmers, Richard J.L.F.; van der Maarel, Silvère M.; Brouwer, Oebele F.; Voermans, Nicol; Padberg, George W.; Erasmus, Corrie E.; van Engelen, Baziel G.M.
Journal:
European journal of paediatric neurology
Issue:
Volume 22:Number 5(2018:Sep.)
Page Start:
782
Record Type:
Journal Article
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2. Autosomal recessive limb‐girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients. Issue 2 (6th May 2019)

Authors:
ten Dam, Leroy; Frankhuizen, Wendy S.; Linssen, Wim H.J.P.; Straathof, Chiara S.; Niks, Erik H.; Faber, Karin; Fock, Annemarie; Kuks, Jan B.; Brusse, Esther; de Coo, René; Voermans, Nicol; Verrips, Aad; Hoogendijk, Jessica E.; van der Pol, Ludo; Westra, Dineke; de Visser, Marianne; van der Kooi, ...
Journal:
Clinical genetics
Issue:
Volume 96:Issue 2(2019)
Page Start:
126
Record Type:
Journal Article
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5. Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2. (22nd June 2018)

Authors:
Lemmers, Richard J L F; van der Vliet, Patrick J; Vreijling, Jeroen P; Henderson, Don; van der Stoep, Nienke; Voermans, Nicol; van Engelen, Baziel; Baas, Frank; Sacconi, Sabrina; Tawil, Rabi; van der Maarel, Silvère M
Journal:
Human molecular genetics
Issue:
Volume 27:Number 20(2018:Oct. 15)
Page Start:
3488
Record Type:
Journal Article
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6. Different phenotypes in dermatomyositis associated with anti-MDA5 antibody: Study of 121 cases. (7th July 2020)

Authors:
Allenbach, Yves; Uzunhan, Yurdagul; Toquet, Ségolène; Leroux, Gaëlle; Gallay, Laure; Marquet, Alicia; Meyer, Alain; Guillaud, Constance; Limal, Nicolas; Gagnadoux, Frédéric; Hervier, Baptiste; Borie, Raphaël; Deligny, Christophe; Terrier, Benjamin; Berezne, Alice; Audia, Sylvain; Champtiaux, Nico...
Journal:
Neurology
Issue:
Volume 95:Number 1(2020)
Page Start:
Record Type:
Journal Article
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7. Facioscapulohumeral dystrophy in children: design of a prospective, observational study on natural history, predictors and clinical impact (iFocus FSHD). Issue 1 (December 2016)

Authors:
Goselink, Rianne; Schreuder, Tim; Mul, Karlien; Voermans, Nicol; Pelsma, Maaike; de Groot, Imelda; van Alfen, Nens; Franck, Bas; Theelen, Thomas; Lemmers, Richard; Mah, Jean; van der Maarel, Silvère; van Engelen, Baziel; Erasmus, Corrie
Journal:
BMC neurology
Issue:
Volume 16:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
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8. International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): Diagnosis, follow‐up, and management. Issue 1 (15th September 2020)

Authors:
Altassan, Ruqaiah; Radenkovic, Silvia; Edmondson, Andrew C.; Barone, Rita; Brasil, Sandra; Cechova, Anna; Coman, David; Donoghue, Sarah; Falkenstein, Kristina; Ferreira, Vanessa; Ferreira, Carlos; Fiumara, Agata; Francisco, Rita; Freeze, Hudson; Grunewald, Stephanie; Honzik, Tomas; Jaeken, Jaak; ...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 44:Issue 1(2021)
Page Start:
148
Record Type:
Journal Article
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