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May 16, 2024Orphanet Journal of Rare DiseasesOpen Access

A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies

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Authors

DSDaniele SalaSMSilvia MarchetLNLorenzo Nanetti

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Cite This Study

Sala et al. (2024) studied this question.

synapsesocial.com/papers/68e69c33b6db64358762163ahttps://doi.org/10.1186/s13023-024-03212-y
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Also Consider

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

  1. 1Variants in Human ATP Synthase Mitochondrial Genes: Biochemical Dysfunctions, Associated Diseases, and Therapies2024 · 38 citations
  2. 2MT-ATP6 9035T>C Variant Causes Ataxia With Azoospermia and Apparent Anticipation in a Four-generation Kindred2026
  3. 3Ataxia and Azoospermia Caused by an MT-ATP6 Mutation with Apparent Anticipation due to Heteroplasmy in a Large Extended Kindred (P4-16.011)2026
  4. 4Association of the Recurrent <i>ATP1</i> <i>A1</i> Variant p.Gly549Arg With Intermediate CMT and Loss of Na,K-ATPase Function2025
  5. 5DNA polymorphisms detected in MT-ATP6 and MT-ATP8 genes in the residents of Sarajevo Canton2024