• Publications
  • Influence
Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders
TLDR
The results indicate that the molecular and clinical overlap between CFC and NS is more complex than previously suggested and that the syndromes might even represent allelic disorders.
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
TLDR
The importance of CAMK 2A and CAMK2B and their auto-phosphorylation in human brain function is established and the phenotypic spectrum of the disorders caused by variants in key players of the glutamatergic signaling pathway is expanded.
Genetic epidemiology of Charcot–Marie–Tooth in the general population
TLDR
The frequency of different Charcot–Marie–Tooth (CMT) genotypes has been estimated in clinic populations, but prevalence data from the general population are lacking.
Genetic epidemiology of Charcot–Marie–Tooth disease
  • G. Braathen
  • Biology, Medicine
    Acta neurologica Scandinavica. Supplementum
  • 29 October 2012
TLDR
Point mutations in the mitofusin 2 (MFN2) gene has been identified exclusively in Charcot‐Marie‐Tooth disease type 2 (CMT2), and in a single family with intermediate CMT.
MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families
TLDR
The identified known and novel point mutations in the MFN2 gene expand the clinical spectrum from CMT2 and intermediate CMT to also include possibly CMT1 and the dHMN phenotypes, and genetic analyses of the MFn2 gene should not be restricted to persons with CMT 2.
Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing
TLDR
Next-generation sequencing is a cost-effective tool in diagnosis of CMT improving diagnostic precision and time efficiency and emphasising that genetic analysis should not be restricted to CMT genes only.
Registration of Down syndrome in the Medical Birth Registry of Norway: Validity and time trends
TLDR
Validity of registration in the MBRN was satisfactory during 2001–2005, and increasing prevalence rates over time were explained by increasing maternal age.
Hereditary peripheral neuropathies diagnosed by next-generation sequencing.
TLDR
Whether next-generation sequencing produces a greater number of positive diagnoses than its traditional counterpart in patients with suspected hereditary peripheral neuropathy is examined.
Charcot-Marie-Tooth caused by a copy number variation in myelin protein zero.
TLDR
To the authors' knowledge this is the first non-peripheral myelin protein 22 copy number variation to cause Charcot-Marie-Tooth disease.
Copy Number Variations in a Population-Based Study of Charcot-Marie-Tooth Disease
TLDR
CNVs in a population-based sample of Charcot-Marie-Tooth families found disease causing CNVs are rare but may cause CMT in about 1% (95% CI 0–7%) of the Norwegian CMT families.
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