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1 - 4 of 4 results found for MTMR2. Did you mean: mtorc2

  1. Mutations in the 5 ' region of the myotubularin-related protein 2 (MTMR2) gene in...

    Focally folded myelin has been recognized as a distinctive feature in some individuals with severe inherited demyelinating neuropathy, with an onset in childhood. Such cases have been shown to be genetically heterogeneous. Alterations in the

    http://iris.ucl.ac.uk/iris/publication/18417/1

  2. Genotype-phenotype correlations in charcot-marie-tooth disease due to mtmr2 mutations and...

    © 2019 Wang, Kaçar Bayram, Sprute, Ozdemir, Cooper, Pergande, Efthymiou, Nedic,Mazaheri, Stumpfe, AziziMalamiri, Shariati, Zeighami, Bayram, Naghibzadeh, Tajik, Ya¸sar, Sami Güven, Bibi, Sultan, Salpietro, Houlden, Per, Galehdari, Shalbafan,

    http://iris.ucl.ac.uk/iris/publication/1716786/1

  3. Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both...

    Charcot-Marie-Tooth disease type 4B1, CMT4B1, is a severe, autosomal-recessive, demyelinating peripheral neuropathy, due to mutations in the Myotubularin-related 2 gene, MTMR2. MTMR2 is widely expressed and encodes a phosphatase whose substrates

    http://iris.ucl.ac.uk/iris/publication/33760/1

  4. Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular...

    BACKGROUND: Neuromuscular disorders (NMDs) comprise a group of heterogeneous genetic diseases with a broad spectrum of overlapping the clinical presentations that makes diagnosis challenging. Notably, the recent introduction of whole-exome

    http://iris.ucl.ac.uk/iris/publication/1773442/1

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