Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency ( <i>SLC6A8</i> )Aurore Curie, Vincent des Portes, M. Gavanon et al.|Neurology|2024Cited by 12
Functional and Molecular Characterization of New SPTLC1 Missense Variants in Patients with Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1)Julie Rochat, David Cheillan, André Blavier et al.|Genes|2024Cited by 1