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ROBERT NAVIAUX, M.D., PH.D.
M.D., PH.D.
Ph.D. Medical Genetics
NPI: 1275745879Individual
Specialties, Licenses & Credentials
Ph.D. Medical GeneticsPrimary
Medical Genetics, Ph.D. Medical Genetics
Code: 170100000X
G61267(CA)
Research & Publications (20)
Retained features of embryonic metabolism in the adult MRL mouse.
PMID 19131261·Mol Genet Metab·2009
7-preclinical
Developing a systematic approach to the diagnosis and classification of mitochondrial disease.
PMID 16120397·Mitochondrion·2004
8-other
POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.
PMID 15122711·Ann Neurol·2004
5-case
Determination of DNA mutation load in human tissues using denaturing HPLC-based heteroduplex analysis.
PMID 19513681·Methods Mol Biol·2009
8-other
De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome.
PMID 19501198·Mitochondrion·2009
5-case
Monitoring phosphorylation of the pyruvate dehydrogenase complex.
PMID 19341700·Anal Biochem·2009
7-preclinical
Naturally occurring mitochondrial DNA heteroplasmy in the MRL mouse.
PMID 18761428·Mitochondrion·2008
7-preclinical
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
PMID 18546365·Hum Mutat·2008
8-other
Impact of nucleoside reverse transcriptase inhibitors on mitochondrial DNA and RNA in human skeletal muscle cells.
PMID 18541728·Antimicrob Agents Chemother·2008
8-other
The in-depth evaluation of suspected mitochondrial disease.
PMID 18243024·Mol Genet Metab·2008
6-review
Pitfalls in the denaturing high-performance liquid chromatography analysis of mitochondrial DNA mutation.
PMID 18165269·J Mol Diagn·2008
8-other
ERRgamma directs and maintains the transition to oxidative metabolism in the postnatal heart.
PMID 17618853·Cell Metab·2007
7-preclinical
Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalances.
PMID 17483096·Hum Mol Genet·2007
8-other
Quantitative mitochondrial DNA mutation analysis by denaturing HPLC.
PMID 17446331·Clin Chem·2007
8-other
Mitochondrial DNA mutation detection by electrospray mass spectrometry.
PMID 17158195·Clin Chem·2007
4-observational
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 214 DICKINSON STREET, BLDG CTF, ROOM C103
SAN DIEGO, CA 92103 - Phone
- (619) 543-2904
Quick Facts
- NPI
- 1275745879
- Entity Type
- Individual
- Gender
- Male
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 20
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