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Van Broeckhoven C

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Publications:

Title Authors Year Journal
Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA. Van Broeckhoven C 2004 Nucleic acids research
POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. Van Broeckhoven C 2004 Neurology
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
Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. Van Broeckhoven C 2003 European journal of human genetics : EJHG
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Van Broeckhoven C 2001 Nature genetics
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