Kristof Verhoeven

Trends in diagnosis, referral, red flag onset, patient profiles and natural outcome of de novo cardiac amyloidosis and their multidisciplinary implications

P. de Paepe, M. Lycke, M. Lambert, 2021, Acta cardiologica.

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

S. Marie, W. Robberecht, B. Engelen, 2012, Human mutation.

Bone scan findings in erythromelalgia.

I. Willekens, F. De Geeter, S. Vandecasteele, 2018, Hellenic journal of nuclear medicine.

C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD

J. Shorter, S. Janssens, B. Dermaut, 2023, Acta Neuropathologica.

Exome Sequencing and Multigene Panel Testing in 1,411 Patients With Adult-Onset Neurologic Disorders

B. Bergmans, B. Poppe, P. Santens, 2023, Neurology: Genetics.