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Disease

MERRF Syndrome

Emerging research
1
Publications
2023
Latest publication
Latest activity
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Recent clinical, regulatory, research and industry developments relating to this disease.

What's happening now

An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.

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Research activity

1 papers

Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.

Major themes2
  • MERRF Syndrome1
  • Neural Stem Cells1
Leading journals1
  • Journal of biomedical science1
Leading researchers6
  • Liao HH1
  • Ma YS1
  • Tay HY1
  • Wei YH1
  • Wu YT1
  • Yang JT1
Affiliations (unnormalised)2
  • Center for Mitochondrial Medicine and Free Radical Research1
  • Institute of Clinical Medicine1

Reference

Authoritative identity, definition & identifiers.

Defined in MeSH

A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)

References & data sources
  • Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
  • Research activity — Europe PMC (EMBL-EBI) + OpenAlex-derived paper links
  • Related entities are derived from literature co-mention (studied together) — associative, not causal.