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E Ruiz-Pesini Selected Research

Adenosine Triphosphate (ATP)

1/2009NARP syndrome in a patient harbouring an insertion in the MT-ATP6 gene that results in a truncated protein.

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E Ruiz-Pesini Research Topics

Disease

1Leigh Disease (Leigh's Disease)
09/2009
1Leber Hereditary Optic Atrophy (Leber's Hereditary Optic Neuropathy)
09/2009
1Neuropathy ataxia and retinitis pigmentosa
01/2009
1MELAS Syndrome (Syndrome, MELAS)
01/2007
1Mitochondrial Diseases (Mitochondrial Disease)
10/2006
1Oligospermia (Oligozoospermia)
09/2000
1Asthenozoospermia
09/2000

Drug/Important Bio-Agent (IBA)

4Mitochondrial DNA (mtDNA)IBA
09/2009 - 09/2000
1antineoplaston A10 (A 10)IBA
09/2009
1Proteins (Proteins, Gene)FDA Link
01/2009
1Adenosine Triphosphate (ATP)IBA
01/2009
1Leu Transfer RNAIBA
01/2007