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QuickView for spastic tetraplegia (phenotype)


Genetic Markers

Most Correlated Genes

Most Correlated SNPs

  1. PSMC1
  1. No SNPs found
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Pathway Enrichment

Most Correlated Biogroups

  1. proteasome-activating ATPase activity
  2. 26S Proteasome regulatory subunit 4
  3. 26S proteasome regulatory subunit P45-like
  4. proteasome regulatory particle, base subcomplex
  5. proteasome regulatory particle
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Curated Studies

Most Correlated Studies

  1. Patients with neuroaxonal injury in cerebral palsy
  2. OMIM - Neurodevelopmental and Related Disorders
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Literature

Most Relevant Literature

  1. Progressive spastic tetraplegia and axial hypotonia (STAHP) due to SOD1 deficiency: is it really a n…
  2. A novel homozygous loss-of-function variant in SOD1 causing progressive spastic tetraplegia and axia…
  3. Generation and characterization of a knock-in mouse model for Spastic Tetraplegia, Thin Corpus Callo…
  4. Generation and characterization of a knock-in mouse model for spastic tetraplegia, thin corpus callo…
  5. Heterozygous pathogenic variation in GCH1 associated with treatable severe spastic tetraplegia.
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Clinical Trials

Most Relevant Clinical Trials

  1. Influence of Upper Extremity Vibration on Spasticity and Function in Persons With Tetraplegia
  2. Neural Stimulation for Hand Grasp in People With Tetraplegia
  3. TETRAGRIP II - Usability Trial of an FES Orthosis for People With Tetraplegia.
  4. Neural Adaptation After Tendon Transfer and Training in Tetraplegia
  5. Extracorporeal Shockwave Therapy for Spasticity in People With Spinal Cord Injury
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