G. J. Braathen

Publications38
h-index8
Citations442
Highly Influential Citations30
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Genetic epidemiology of Charcot–Marie–Tooth in the general population
Background and purpose: The frequency of different Charcot–Marie–Tooth (CMT) genotypes has been estimated in clinic populations, but prevalence data from the general population are lacking.
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Genetic epidemiology of Charcot–Marie–Tooth disease
  • G. J. Braathen
  • Biology, Medicine
  • Acta neurologica Scandinavica. Supplementum
  • 29 October 2012
Charcot‐Marie‐Tooth disease (CMT) is the most common inherited disorder of the peripheral nervous system. The frequency of different CMT genotypes has been estimated in clinic populations, but… Expand
  • 71
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MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families
BackgroundPoint mutations in the mitofusin 2 (MFN2) gene has been identified exclusively in Charcot-Marie-Tooth type 2 (CMT2), and in a single family with intermediate CMT. MFN2 point mutations are… Expand
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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
Calcium/calmodulin-dependent protein kinase II (CAMK2) is one of the first proteins shown to be essential for normal learning and synaptic plasticity in mice, but its requirement for human brain… Expand
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Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing
Charcot-Marie-Tooth (CMT) disease is the most prevalent inherited neuropathy. Today more than 40 CMT genes have been identified. Diagnosing heterogeneous diseases by conventional Sanger sequencing is… Expand
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Hereditary peripheral neuropathies diagnosed by next-generation sequencing.
BACKGROUND Next-generation sequencing (NGS) is a genetic technique used to determine the order of nucleotides in DNA. The technique has proved to be more efficient than the traditional method, Sanger… Expand
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Charcot-Marie-Tooth caused by a copy number variation in myelin protein zero.
INTRODUCTION Charcot-Marie-Tooth disease (CMT) is the most common inherited disorder of the peripheral nervous system. The majority has a duplication of the peripheral myelin protein 22. CMT is… Expand
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Copy Number Variations in a Population-Based Study of Charcot-Marie-Tooth Disease
Copy number variations (CNVs) are important in relation to diversity and evolution but can sometimes cause disease. The most common genetic cause of the inherited peripheral neuropathy… Expand
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Clinical exome sequencing – Norwegian findings.
BACKGROUND New DNA-sequencing technology is revolutionising medical diagnostics. Through the use of exome sequencing, it is now possible to sequence all human genes in parallel. This technology has… Expand
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Variants in the genes DCTN2,DNAH10,LRIG3, and MYO1A are associated with intermediate Charcot–Marie–Tooth disease in a Norwegian family
Charcot–Marie–Tooth disease (CMT) is a heterogeneous inherited neuropathy. The number of known CMT genes is rapidly increasing mainly due to next‐generation sequencing technology, at present more… Expand
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