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Research Output

A gain-of-function sodium channel beta 2-subunit mutation in painful diabetic neuropathy

Alsaloum, M., Estacion, M., Almomani, R., Gerrits, M. M., Boenhof, G. J., Ziegler, D., Malik, R., Ferdousi, M., Lauria, G., Merkies, I. S. J., Faber, C. G., Dib-Hajj, S., Waxman, S. G., de Greef, B., Hoeijmakers, J. G. J., Sopacua, M., Smeets, H. J. M., Vanoevelen, J. M., Eijkenboom, Lindsey, P. & 21 others, Almomani, R., Taiana, M., Marchi, M., Lombardi, R., Cazzato, D., Boneschi, F. M., Zauli, A., Clarelli, F., Santoro, S., Lopez, A. B., Quattrini, A., Cestele, S., Chever, O., Tavakoli, M., Malik, R., Kapetis, D., Xenakis, M. N., Mantegazza, M., Battiato, F., Strom, A. & PROPANE Study Grp, May 2019, In : Molecular Pain. 15, p. 1-14 14 p., 1744806919849802.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients

ten Dam, L., Frankhuizen, W. S., Linssen, W. H. J. P., Straathof, C. S., Niks, E. H., Faber, K., Fock, A., Kuks, J. B., Brusse, E., de Coo, R., Voermans, N., Verrips, A., Hoogendijk, J. E., van Der Pol, L., Westra, D., de Visser, M., van der Kooi, A. J. & Ginjaar, I., Aug 2019, In : Clinical Genetics. 96, 2, p. 126-133 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

A zebrafish model to study small-fiber neuropathy reveals a potential role for GDAP1

Eijkenboom, I., Vanoevelen, J. M., Hoeijmakers, J. G. J., Wijnen, I., Gerards, M., Faber, C. G. & Smeets, H. J. M., Jul 2019, In : Mitochondrion. 47, p. 273-281 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Dystrophin is expressed in smooth muscle and afferent nerve fibers in the rat urinary bladder

Lionarons, J. M., Hoogland, G., Hendriksen, R. G. F., Faber, C. G., Hellebrekers, D. M. J., Van Koeveringe, G. A., Schipper, S. & Vles, J. S. H., Aug 2019, In : Muscle & Nerve. 60, 2, p. 202-210 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Expression of pathogenic SCN9A mutations in the zebrafish: A model to study small-fiber neuropathy

Eijkenboom, I., Sopacua, M., Otten, A., Gerrits, M., Hoeijmakers, J., Waxman, S. G., Lombardi, R., Lauria, G., Merkies, I. S. J., J.M. Smeets, H., Faber, K., Vanoevelen, J. & PROPANE Study Grp, Jan 2019, In : Experimental Neurology. 311, p. 257-264 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access