Anatomic & metabolic brain markers of the m.3243A>G mutation: A multi-parametric 7T MRI study

Por Haast, Roy A.M., Ivanov, Dimo, IJsselstein, Rutger J.T., Sallevelt, Suzanne C.E.H., Jansen, Jacobus F.A., Smeets, Hubert J.M., de Coo, Irenaeus F.M., Formisano, Elia, Uludağ, Kâmil
Publicado no Neuroimage Clin (2018)

Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype

Por Hellebrekers, Debby M E I, Sallevelt, Suzanne C E H, Theunissen, Tom E J, Hendrickx, Alexandra T M, Gottschalk, Ralph W, Hoeijmakers, Janneke G J, Habets, Daphna D, Bierau, Jörgen, Schoonderwoerd, Kees G, Smeets, Hubert J M
Publicado no Eur J Hum Genet (2017)

De novo mtDNA point mutations are common and have a low recurrence risk

Por Sallevelt, Suzanne C E H, de Die-Smulders, Christine E M, Hendrickx, Alexandra T M, Hellebrekers, Debby M E I, de Coo, Irenaeus F M, Alston, Charlotte L, Knowles, Charlotte, Taylor, Robert W, McFarland, Robert, Smeets, Hubert J M
Publicado no J Med Genet (2017)

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

Por Wilson, Ian J., Carling, Phillipa J., Alston, Charlotte L., Floros, Vasileios I., Pyle, Angela, Hudson, Gavin, Sallevelt, Suzanne C.E.H., Lamperti, Costanza, Carelli, Valerio, Bindoff, Laurence A., Samuels, David C., Wonnapinij, Passorn, Zeviani, Massimo, Taylor, Robert W., Smeets, Hubert J.M., Horvath, Rita, Chinnery, Patrick F
Publicado no Hum Mol Genet (2016)

Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect

Por Theunissen, Tom E. J., Gerards, Mike, Hellebrekers, Debby M. E. I., van Tienen, Florence H., Kamps, Rick, Sallevelt, Suzanne C. E. H., Hartog, Elvira N. M. M.-D., Scholte, Hans R., Verdijk, Robert M., Schoonderwoerd, Kees, de Coo, Irenaeus F. M., Szklarczyk, Radek, Smeets, Hubert J. M.
Publicado no Front Mol Neurosci (2017)

Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease

Por Kamps, Rick, Szklarczyk, Radek, Theunissen, Tom E., Hellebrekers, Debby M. E. I., Sallevelt, Suzanne C. E. H., Boesten, Iris B., de Koning, Bart, van den Bosch, Bianca J., Salomons, Gajja S., Simas-Mendes, Marisa, Verdijk, Rob, Schoonderwoerd, Kees, de Coo, Irenaeus F. M., Vanoevelen, Jo M., Smeets, Hubert J. M.
Publicado no Eur J Hum Genet (2018)