MERRF Syndrome

Known as: Myoclonic Epilepsy with Ragged-Red Fibers, Myoclonic Epilepsy Associated with Ragged Red Fibers, Myoencephalopathy Ragged-Red Fiber Disease 
A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild… (More)
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2006
Highly Cited
2006
In the mammalian cortex, it is generally assumed that the output information of neurons is encoded in the number and the timing… (More)
  • figure 3
  • figure 1
  • figure 2
  • figure 3
  • figure 4
Is this relevant?
Highly Cited
2004
Highly Cited
2004
Elastic fibers are components of the extracellular matrix and confer resilience. Once laid down, they are thought to remain… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
1997
Highly Cited
1997
Many patients with inherited mitochondrial encephalopathies have one of two pathogenic mutations of mitochondrial DNA (mtDNA… (More)
  • figure 1
  • figure 2
Is this relevant?
Highly Cited
1995
Highly Cited
1995
We have investigated the pathogenetic mechanism of the mitochondrial tRNALys gene mutation (position 8344) associated with MERRF… (More)
Is this relevant?
Highly Cited
1995
Highly Cited
1995
Formalin injected subcutaneously into the paw is a frequently used pain assay; it evokes an initial period of licking and… (More)
Is this relevant?
Highly Cited
1994
Highly Cited
1994
mGluR1 mutant mice are viable but show characteristic cerebellar symptoms such as ataxic gait and intention tremor. The anatomy… (More)
Is this relevant?
Highly Cited
1990
Highly Cited
1990
An A to G transition mutation at nucleotide pair 8344 in human mitochondrial DNA (mtDNA) has been identified as the cause of… (More)
Is this relevant?
Highly Cited
1990
Highly Cited
1990
MITOCHONDRIAL encephalomyopathies are usually divided into three distinct clinical subgroups: (1) mitochondrial myopathy… (More)
Is this relevant?
Highly Cited
1987
Highly Cited
1987
Mesostriatal projections, which arise from dopaminergic and non-dopaminergic neurons in the ventral tegmental area, substantia… (More)
  • figure I
  • figure 2
  • figure 3
  • figure 5
  • figure 6
Is this relevant?
Highly Cited
1971
Highly Cited
1971
  • 1971
Smooth muscle derived from the inner media and intima of immature guinea pig aorta were grown for up to 8 wk in cell culture. The… (More)
  • figure 1
  • figure 3
  • figure 6
  • figure 8
Is this relevant?