Therapeutic Advances in Rare Disease

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Top Publications

• The IRDiRC Chrysalis Task Force: making rare disease research attractive to companies

  (2023)
  5 Citations

• Developing a pathway to clinical trials for CACNA1A-related epilepsies: A patient organization perspective

  (2024)
  4 Citations

• A roadmap to cure CHD2-related disorders

  (2024)
  2 Citations

• The growing research toolbox for SLC13A5 citrate transporter disorder: a rare disease with animal models, cell lines, an ongoing Natural History Study and an engaged patient advocacy organization

  (2024)
  1 Citations

• Telehealth for patients with rare epilepsies

  (2022)
  1 Citations

• Joining forces to develop individualized antisense oligonucleotides for patients with brain or eye diseases: the example of the Dutch Center for RNA Therapeutics

  (2024)
  1 Citations

• Left-sided valvular heart disease and retinopathy in a 38-year-old woman with attenuated mucopolysaccharidosis: a case report

  (2023)
  1 Citations

• A United States-based patient-reported adult polyglucosan body disease registry: initial results

  (2024)
  1 Citations

• A roadmap for SHANK3-related Epilepsy Research: recommendations from the 2023 strategic planning workshop

  (2024)
  1 Citations