J. Van Lent

发表

Genetic pain loss disorders

David L. Bennett, T. Hornemann, Y. Parman, 2022, Nature Reviews Disease Primers.

A reference human induced pluripotent stem cell line for large-scale collaborative studies.

Sonja W. Scholz, M. Nalls, D. Vitale, 2022, Cell stem cell.

Epidiaphyseal versus Other Intercalary Allografts for Tumors of the Lower Limb

R. Brand, H. Kroon, R. Deijkers, 2005, Clinical orthopaedics and related research.

Induced pluripotent stem cell-derived motor neurons of CMT type 2 patients reveal progressive mitochondrial dysfunction

B. Asselbergh, W. D. De Vos, V. Timmerman, 2021, Brain : a journal of neurology.

Defects in Axonal Transport in Inherited Neuropathies

V. Timmerman, J. Baets, D. Beijer, 2019, Journal of neuromuscular diseases.

A reference induced pluripotent stem cell line for large-scale collaborative studies

Sonja W. Scholz, M. Nalls, D. Vitale, 2021, bioRxiv.

A weakened interface in the P182L variant of HSP27 associated with severe Charcot‐Marie‐Tooth neuropathy causes aberrant binding to interacting proteins

J. Louis, B. Asselbergh, A. Baldwin, 2021, The EMBO journal.

Contiguous gene syndrome due to a maternally inherited 8.41 Mb distal deletion of chromosome band Xp22.3 in a boy with short stature, ichthyosis, epilepsy, mental retardation, cerebral cortical heterotopias and Dandy–Walker malformation

J. Herbergs, M. Vreeburg, A. Stegmann, 2008, American journal of medical genetics. Part A.

Downregulation of PMP22 ameliorates myelin defects in iPSC-derived human organoid cultures of CMT1A

B. Asselbergh, V. Timmerman, L. Van Den Bosch, 2022, Brain : a journal of neurology.