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Thats one of my biggest excitements, honestly

The rate of de novo pathogenic variants for DDEB is approximately 30%

10.1124/jpet.118.247841 J

Stroke 23:13121317 Virmani MA, Caso V, Spadoni A, Rossi S, Russo F, Gaetani F (2001) The action of acetyl-l-carnitine on the neurotoxicity evoked by amyloid fragments and peroxide on primary rat cortical neurones

Challenges in the therapy of NeuroHIV As ART alone is insufficient to fully suppress HIV-1 replication, including the transcription and translation of HIV-1 provirus in both T-cell reservoirs and non-CD4 T-cell reservoirs, there is a critical need to develop new brain-penetrating agents that can effectively target both CNS and peripheral immune cells to simultaneously silence HIV-1 and reduce the risk of neuroinflammation