Neurological manifestations of Ehlers-Danlos syndrome(s): A review

Por Castori, Marco, C. Voermans, Nicol
Publicado no Iran J Neurol (2014)

Hydrocephalus induced chorea

Por Voermans, Nicol, Schutte, Pieter, Bloem, Bastiaan R
Publicado em 2009

Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy?

Por Scalco, Renata S, Snoeck, Marc, Quinlivan, Ros, Treves, Susan, Laforét, Pascal, Jungbluth, Heinz, Voermans, Nicol C
Publicado no BMJ Open Sport Exerc Med (2016)

Titin-based stiffening of muscle fibers in Ehlers-Danlos Syndrome

Por Ottenheijm, Coen A. C., Voermans, Nicol C., Hudson, Bryan D., Irving, Thomas, Stienen, Ger J. M., van Engelen, Baziel G., Granzier, Henk
Publicado em 2012

Clinical features, lectin staining, and a novel GNE frameshift mutation in HIBM

Por Voermans, Nicol C., Guillard, M., Doedée, R., Lammens, M., Huizing, Marjan, Padberg, G.W., Wevers, R.A., van Engelen, B.G., Lefeber, D.J.
Publicado em 2010

High prevalence of incomplete right bundle branch block in facioscapulohumeral muscular dystrophy without cardiac symptoms

Por van Dijk, Gaby Pons, van der Kooi, Elly, Behin, Anthony, Smeets, Joep, Timmermans, Janneke, van der Maarel, Silvère, Padberg, George, Voermans, Nicol, van Engelen, Baziel
Publicado no Funct Neurol (2014)

Sarcomeric dysfunction contributes to muscle weakness in facioscapulohumeral muscular dystrophy

Por Lassche, Saskia, Stienen, Ger J.M., Irving, Tom C., van der Maarel, Silvère M., Voermans, Nicol C., Padberg, George W., Granzier, Henk, van Engelen, Baziel G.M., Ottenheijm, Coen A.C.
Publicado em 2013

Determining the role of sarcomeric proteins in facioscapulohumeral muscular dystrophy: a study protocol

Por Lassche, Saskia, Ottenheijm, Coen AC, Voermans, Nicol C, Westeneng, Henk-Jan, Janssen, Barbara H, van der Maarel, Silvère M, Hopman, Maria T, Padberg, George W, Stienen, Ger JM, van Engelen, Baziel GM
Publicado em 2013

Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2

Por van den Boogaard, Marlinde L, JFL Lemmers, Richard, Camaño, Pilar, van der Vliet, Patrick J, Voermans, Nicol, van Engelen, Baziel GM, Lopez de Munain, Adolfo, Tapscott, Stephen J, van der Stoep, Nienke, Tawil, Rabi, van der Maarel, Silvère M
Publicado no Eur J Hum Genet (2016)

Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice

Por Zou, Yaqun, Zwolanek, Daniela, Izu, Yayoi, Gandhy, Shreya, Schreiber, Gudrun, Brockmann, Knut, Devoto, Marcella, Tian, Zuozhen, Hu, Ying, Veit, Guido, Meier, Markus, Stetefeld, Jörg, Hicks, Debbie, Straub, Volker, Voermans, Nicol C., Birk, David E., Barton, Elisabeth R., Koch, Manuel, Bönnemann, Carsten G.
Publicado em 2014

Facioscapulohumeral dystrophy in children: design of a prospective, observational study on natural history, predictors and clinical impact (iFocus FSHD)

Por Goselink, Rianne J. M., Schreuder, Tim H. A., Mul, Karlien, Voermans, Nicol C., Pelsma, Maaike, de Groot, Imelda J. M., van Alfen, Nens, Franck, Bas, Theelen, Thomas, Lemmers, Richard J., Mah, Jean K., van der Maarel, Silvère M., van Engelen, Baziel G., Erasmus, Corrie E.
Publicado no BMC Neurol (2016)

Mosaicism for dominant collagen VI mutations as a cause for intra-familial phenotypic variability

Por Donkervoort, Sandra, Hu, Ying, Stojkovic, Tanya, Voermans, Nicol, Foley, A. Reghan, Leach, Meganne E, Dastgir, Jahannaz, Bolduc, Veronique, Cullup, Thomas, de Becdelièvre, Alix, Yang, Lin, Su, Hai, Meilleur, Katherine, Schindler, Alice B., Kamsteeg, Erik-Jan, Richard, Pascale, Butterfield, Russell, Winder, Thomas L., Crawford, Thomas, Weiss, Robert B., Muntoni, Francesco, Allamand, Valérie, Bönnemann, Carsten G.
Publicado no Hum Mutat (2015)

Mutation-Specific Effects on Thin Filament Length in Thin Filament Myopathy

Por de Winter, Josine M., Joureau, Barbara, Lee, Eun-Jeong, Kiss, Balázs, Yuen, Michaela, Gupta, Vandana A., Pappas, Christopher T., Gregorio, Carol C., Stienen, Ger J. M., Edvardson, Simon, Wallgren-Pettersson, Carina, Lehtokari, Vilma-Lotta, Pelin, Katarina, Malfatti, Edoardo, Romero, Norma B., van Engelen, Baziel G., Voermans, Nicol C., Donkervoort, Sandra, Bönnemann, C. G., Clarke, Nigel F., Beggs, Alan H., Granzier, Henk, Ottenheijm, Coen A. C.
Publicado no Ann Neurol (2016)