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July 1, 1997Journal of Neurology Neurosurgery & PsychiatryOpen Access

Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families

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Authors

GUGraziella UzielFondazione IRCCS Istituto Neurologico Carlo BestaIMIsabella MoroniUniCredit (Italy)ELEleonora LamanteaFondazione IRCCS Istituto Neurologico Carlo Besta

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Cite This Study

Uziel et al. (1997) studied this question.

synapsesocial.com/papers/6aa6889c041e43fea73a79d9https://doi.org/10.1136/jnnp.63.1.16
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome1993 · 262 citations
  2. 2The aleu207–>arg mutation in F1F0-ATP synthase from Escherichia coli. A model for human mitochondrial disease1993 · 47 citations
  3. 3The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome1993 · 256 citations
  4. 4Hydrogen ion-ATP synthase from rat liver mitochondria. A simple, rapid purification method of the functional complex and its characterization1991 · 20 citations
  5. 5A perspective of the binding change mechanism for ATP synthesis <sup>1</sup>1989 · 257 citations