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1 - 4 of 4 results found for AP4M1.

  1. Genotype-Phenotype correlations and expansion of the molecular spectrum of AP4M1-related...

    http://iris.ucl.ac.uk/iris/publication/1775838/1

  2. Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related...

    http://iris.ucl.ac.uk/iris/publication/1464680/1

  3. Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic...

    Deficiency of the adaptor protein complex 4 (AP-4) leads to childhood-onset hereditary spastic paraplegia (AP-4-HSP): SPG47 (AP4B1), SPG50 (AP4M1), SPG51 (AP4E1) and SPG52 (AP4S1). This study aims to evaluate the impact of loss-of-function variants

    http://iris.ucl.ac.uk/iris/publication/1741672/1

  4. Defining the clinical, molecular and imaging spectrum of adaptor protein complex...

    Bi-allelic loss-of-function variants in genes that encode subunits of the adaptor protein complex 4 (AP-4) lead to prototypical yet poorly understood forms of childhood-onset and complex hereditary spastic paraplegia: SPG47 (AP4B1), SPG50 (AP4M1),

    http://iris.ucl.ac.uk/iris/publication/1819097/1

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