Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 32 for Dimauro disease
  1. Myoclonic epilepsy with ragged-red fibers 
    ... 1001/archneur.58.11.1885. Citation on PubMed DiMauro S. Mitochondrial diseases. Biochim Biophys Acta. 2004 Jul 23;1658(1-2):80-8. doi: 10.1016/j.bbabio.2004.03.014. Citation on PubMed ... S, Murri L, DiMauro S, Siciliano G. A novel mitochondrial tRNAPhe mutation ...
    https://medlineplus.gov/...myoclonic-epilepsy-with-ragged-red-fibers - Genetics
  2. Cytochrome c oxidase deficiency 
    ... K, Tarnopolsky M, Van Hove JL, Wolfe L, DiMauro S. Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. ...
    https://medlineplus.gov/.../cytochrome-c-oxidase-deficiency - Genetics
  3. Mitochondrial DNA 
    ... 1001/archneur.58.11.1885. Citation on PubMed Dimauro S, Davidzon G. Mitochondrial DNA and disease. Ann Med. 2005;37(3):222-32. doi: ...
    https://medlineplus.gov/genetics/chromosome/mitochondrial-dna - Genetics
  4. Glycogen storage disease type IV 
    ... Shanske S, Valberg SJ, Mickelson JR, Tanji K, DiMauro S. Fatal infantile neuromuscular presentation of glycogen storage disease type IV. Neuromuscul Disord. 2004 Apr;14(4): ...
    https://medlineplus.gov/.../glycogen-storage-disease-type-iv - Genetics
  5. Phosphoglycerate mutase deficiency 
    ... for Rare Disorders (NORD) ClinicalTrials.gov GLYCOGEN STORAGE DISEASE X; GSD10 PubMed DiMauro S, Miranda AF, Khan S, Gitlin K, Friedman ...
    https://medlineplus.gov/.../phosphoglycerate-mutase-deficiency - Genetics
  6. Neutral lipid storage disease with myopathy 
    ... Rare Disorders (NORD) ClinicalTrials.gov NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY; NLSDM PubMed Bruno C, Dimauro S. Lipid storage myopathies. Curr Opin Neurol. 2008 ...
    https://medlineplus.gov/...utral-lipid-storage-disease-with-myopathy - Genetics
  7. Myoclonic epilepsy myopathy sensory ataxia 
    ... Aprille JR, Andreetta F, Bonilla E, Schon EA, DiMauro S. mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet. 1991 Mar;48(3): ...
    https://medlineplus.gov/...yoclonic-epilepsy-myopathy-sensory-ataxia - Genetics
  8. Ataxia neuropathy spectrum 
    ... Aprille JR, Andreetta F, Bonilla E, Schon EA, DiMauro S. mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet. 1991 Mar;48(3): ...
    https://medlineplus.gov/.../condition/ataxia-neuropathy-spectrum - Genetics
  9. PHKA1 gene 
    ... Wolf E, Doutreleau S, Geny B, Akman HO, Dimauro S, Vissing J. Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease? Neurology. 2012 Jan 24;78(4):265-8. ...
    https://medlineplus.gov/genetics/gene/phka1 - Genetics
  10. Alpers-Huttenlocher syndrome 
    ... Aprille JR, Andreetta F, Bonilla E, Schon EA, DiMauro S. mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet. 1991 Mar;48(3): ...
    https://medlineplus.gov/.../condition/alpers-huttenlocher-syndrome - Genetics
previous · 1 · 2 · 3 · 4 · next