Tarja Linnankivi

Summary

Affiliation: Helsinki University Central Hospital
Country: Finland

Publications

  1. ncbi 18q deletions: clinical, molecular, and brain MRI findings of 14 individuals
    Tarja Linnankivi
    Department of Pediatric Neurology, Hospital for Children and Adolescents, University of Helsinki, Helsinki, Finland
    Am J Med Genet A 140:331-9. 2006
  2. ncbi Cerebroretinal microangiopathy with calcifications and cysts
    T Linnankivi
    Department of Pediatric Neurology, Hospital for Children and Adolescents, University of Helsinki, Stenbackinkatu 11, FIN 00290 Helsinki, Finland
    Neurology 67:1437-43. 2006
  3. doi DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis
    P Isohanni
    Research Programme of Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    J Med Genet 47:66-70. 2010
  4. ncbi Five new cases of a recently described leukoencephalopathy with high brain lactate
    T Linnankivi
    Department of Pediatric Neurology, Hospital for Children and Adolescents, University of Helsinki, Stenbackinkatu 11, FIN 00290 Helsinki, Finland
    Neurology 63:688-92. 2004
  5. doi Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation
    Tarja Linnankivi
    Department of Pediatric Neurology, Children s Hospital, Helsinki University Central Hospital, University of Helsinki, Helsinki, Finland
    Am J Med Genet A 158:3119-25. 2012
  6. pmc Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts
    Anne Polvi
    Folkhalsan Institute of Genetics, Helsinki, Finland
    Am J Hum Genet 90:540-9. 2012

Collaborators

Detail Information

Publications6

  1. ncbi 18q deletions: clinical, molecular, and brain MRI findings of 14 individuals
    Tarja Linnankivi
    Department of Pediatric Neurology, Hospital for Children and Adolescents, University of Helsinki, Helsinki, Finland
    Am J Med Genet A 140:331-9. 2006
    ..3-qtel. Interstitial deletions exerted very heterogeneous effects on phenotype. In individuals with distal 18q22.3-q23 deletions, brain MRI was very distinctive with poor differentiation of gray and white matter on T2-weighted images...
  2. ncbi Cerebroretinal microangiopathy with calcifications and cysts
    T Linnankivi
    Department of Pediatric Neurology, Hospital for Children and Adolescents, University of Helsinki, Stenbackinkatu 11, FIN 00290 Helsinki, Finland
    Neurology 67:1437-43. 2006
    ....
  3. doi DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis
    P Isohanni
    Research Programme of Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    J Med Genet 47:66-70. 2010
    ..Mutations in DARS2, encoding mitochondrial aspartyl-tRNA synthetase, were recently shown to cause LBSL. The signs and symptoms show some overlap with the most common leucoencephalopathy of young adults, multiple sclerosis (MS)...
  4. ncbi Five new cases of a recently described leukoencephalopathy with high brain lactate
    T Linnankivi
    Department of Pediatric Neurology, Hospital for Children and Adolescents, University of Helsinki, Stenbackinkatu 11, FIN 00290 Helsinki, Finland
    Neurology 63:688-92. 2004
    ..A new leukoencephalopathy with brainstem and spinal cord involvement and high brain lactate was recently defined. The authors describe five new patients with this entity...
  5. doi Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation
    Tarja Linnankivi
    Department of Pediatric Neurology, Children s Hospital, Helsinki University Central Hospital, University of Helsinki, Helsinki, Finland
    Am J Med Genet A 158:3119-25. 2012
    ..Six patients had peritrigonal white matter reduction, and 4 had abnormally shaped lateral ventricles. We recommend a close follow-up of development in patients with HCH and a low threshold for neuroimaging...
  6. pmc Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts
    Anne Polvi
    Folkhalsan Institute of Genetics, Helsinki, Finland
    Am J Hum Genet 90:540-9. 2012
    ..Therefore, determining the underlying pathomechanisms associated with deficient CTC1 function will require further studies...