Van Broeckhoven C
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Publications:
| Title | Authors | Year | Journal |
|---|---|---|---|
| POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. | Van Broeckhoven C | 2004 | Neurology |
| Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA. | Van Broeckhoven C | 2004 | Nucleic acids research |
| Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. | Van Broeckhoven C | 2003 | European journal of human genetics : EJHG |
| Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. | Van Broeckhoven C | 2003 | Neuromuscular disorders : NMD |
| Patient homozygous for a recessive POLG mutation presents with features of MERRF. | Van Broeckhoven C | 2003 | Neurology |
| Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. | Van Broeckhoven C | 2001 | Nature genetics |