Research map: Biallelic SCO2 Variants Presenting as Motor‐Predominant Axonal Neuropathy With Complex IV Deficiency

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Papers in this map

  1. Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene · Lefkothea C. Papadopoulou · 1999 · 576 citations · Cited by this paper
  2. ITPR1 Deletion in a Patient With Sensory Ataxic Neuropathy and Sjögren Syndrome · 2025 · Related
  3. Human Sco1 and Sco2 Function as Copper-binding Proteins · Yih‐Chern Horng · 2005 · 167 citations · Cited by this paper
  4. Neurophysiological Characteristics of Nitrous Oxide‐Induced Polyneuropathy: A Case Series · 2026 · Related
  5. Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy · Michaela Jaksch · 2001 · 82 citations · Cited by this paper
  6. Utility of the “Modified Erasmus GBS Respiratory Insufficiency Score” in Axonal and Demyelinating Guillain–Barré Syndrome · 2026 · Related
  7. SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency · Adriana P. Rebelo · 2017 · 58 citations · Cited by this paper
  8. A Next‐Generation ELISA for the Detection of Anti‐(Para)Nodal Antibodies in Autoimmune Nodopathy and COVID ‐19 Vaccinated Individuals · 2026 · Related
  9. Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs · Adriana P. Rebelo · 2023 · 22 citations · Cited by this paper
  10. Motor Neuronopathy With Widespread Fasciculations in MCM3AP ‐Related Disorder: Clinical and Muscle MRI Insights · 2026 · Related
  11. Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early‐onset axonal Charcot‐Marie‐Tooth disease · Andrea Gangfuß · 2022 · 11 citations · Cited by this paper
  12. Associations Between Diabetes Distress, Diabetic Peripheral Neuropathy and Neuropathic Pain in People With Type 2 Diabetes—The Maastricht Study · 2026 · Related
  13. Adult Cerebellar Ataxia, Axonal Neuropathy, and Sensory Impairments Caused by Biallelic SCO2 Variants · Benoît Rucheton · 2021 · 4 citations · Cited by this paper
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