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Van Goethem G

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Publications:

Title Authors Year Journal
A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes. Van Goethem G 2010 Archives of neurology
Mitochondrial mosaics in the liver of 3 infants with mtDNA defects. Van Goethem G 2009 BMC clinical pathology
Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA. Van Goethem G 2004 Nucleic acids research
POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. Van Goethem G 2004 Neurology
Patient homozygous for a recessive POLG mutation presents with features of MERRF. Van Goethem G 2003 Neurology
Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. Van Goethem G 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 Goethem G 2003 Neuromuscular disorders : NMD
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Van Goethem G 2001 Nature genetics

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