HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Cerebellar ataxia, mental retardation and dysequilibrium syndrome 1 (CAMRQ1) caused by an unusual constellation of VLDLR mutation.

AuthorsLars Schlotawa, Alrun Hotz, Christine Zeschnigk, Britta Hartmann, Jutta Gärtner, Deborah Morris-Rosendahl
JournalJournal of neurology (J Neurol) Vol. 260 Issue 6 Pg. 1678-80 (Jun 2013) ISSN: 1432-1459 [Electronic] Germany
PMID23670308 (Publication Type: Case Reports, Letter)
Chemical References
  • Receptors, LDL
  • VLDL receptor
Topics
  • Age of Onset
  • Base Sequence
  • Brain (pathology)
  • Cerebellar Ataxia (genetics)
  • Child
  • Child, Preschool
  • Humans
  • Intellectual Disability (genetics)
  • Magnetic Resonance Imaging
  • Male
  • Molecular Sequence Data
  • Mutation
  • Pedigree
  • Receptors, LDL (genetics)
  • Reverse Transcriptase Polymerase Chain Reaction

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: