Martin JJ
Publications:
| Title | Authors | Year | Journal |
|---|---|---|---|
| Mitochondrial mosaics in the liver of 3 infants with mtDNA defects. | Martin JJ | 2009 | BMC clinical pathology |
| POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. | Martin JJ | 2004 | Neurology |
| Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. | Martin JJ | 2003 | Neuromuscular disorders : NMD |
| Patient homozygous for a recessive POLG mutation presents with features of MERRF. | Martin JJ | 2003 | Neurology |
| Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. | Martin JJ | 2001 | Nature genetics |
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