The IRDiRC Chrysalis Task Force: making rare disease research attractive to companies
(2023)
5 Citations
Developing a pathway to clinical trials for <i>CACNA1A</i>-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
