Miotonías no distróficas. Aproximación diagnóstica en un caso relacionado con una mutación en el gen del canal del sodio

Domínguez González, Cristina; de Pablo Fernádez, Eduardo; Gonzalo Martínez, Juan Francisco; García Redondo, Alberto; Cordero Vázquez, Pilar; Esteban Pérez, Jesús; Gutiérrez Rivas, Eduardo.
Rev. neurol. (Ed. impr.) ; 51(9): 571-572, 1 nov., 2010.
Artículo en Español | IBECS (España) | ID: ibc-87337

Documentos relacionados

  1. Hereditary continuous muscle fiber activity.
  2. Clinical, genetic, and functional characterization of the glycine receptor ß-subunit A455P variant in a family affected by hyperekplexia syndrome.
  3. Quantitative Measurement of Rigidity in Parkinson´s Disease: A Systematic Review.
  4. Tension-referenced measures of gastrocnemius slack length and stiffness in Parkinson's disease.
  5. Responses to anterior and posterior perturbations in Parkinson's disease with early postural instability: role of axial and limb rigidity.
  6. Rigidity in Parkinson's disease: evidence from biomechanical and neurophysiological measures.
  7. Charged residues at the pore extracellular half of the glycine receptor facilitate channel gating: a potential role played by electrostatic repulsion.
  8. New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.
  9. Subthalamic nucleus stimulation reverses spinal motoneuron activity in parkinsonian patients.
  10. Paratonia in Dementia: A Systematic Review.