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Research Papers - The Maddi Foundation

Research papers

  • Role of the AP-5 adaptor protein complex in late endosome-to-Golgi retrieval - view the research paper
  • Macular dystrophy associated with Kjellin’s syndrome: a case report - view the research paper
  • A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal system. - view the research paper
  • Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15 - view the research paper
  • Exploring the literature on SPG15 mechanisms - view the research paper
  • Frequency and phenotype of SPG11 and SPG15 in complicated spastic paraplegia (HSP) - view the research paper
  • Genetic and phenotypic characterization of complex hereditary spastic paraplegia. - view the research paper
  • Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome - view the research paper
  • Impaired Mitochondrial Dynamics Underlie Axonal Defects in Hereditary Spastic Paraplegias. - view the research paper