Alexandra T.M. Hendrickx

Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause

Tom E. J. Theunissen, Minh Nguyen, Rick Kamps et al. · Frontiers in Genetics · 2018 · 94 citations · Full text

Clinical Symptoms, Genetics, Genetic Epidemiology +20

The unfolding clinical spectrum of <i>POLG</i> mutations

Marinus J. Blok, B.J.C. van den Bosch, Eveline Jongen et al. · Journal of Medical Genetics · 2009 · 85 citations · Full text

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

Suzanne C.E.H. Sallevelt, Christine de Die‐Smulders, Alexandra T.M. Hendrickx et al. · Journal of Medical Genetics · 2016 · 71 citations · Full text

Defective complex I assembly due to <i>C20orf7</i> mutations as a new cause of Leigh syndrome

Mike Gerards, Wim J. Sluiter, B.J.C. van den Bosch et al. · Journal of Medical Genetics · 2009 · 68 citations · Full text

Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease

Marinus J. Blok, Liesbeth Spruijt, I.F.M. de Coo et al. · Journal of Medical Genetics · 2007 · 65 citations · Full text