Subject Areas on Research
- Arthrogryposis, renal tubular acidosis and cholestasis syndrome: spectrum of the clinical manifestations.
- De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.
- Ex utero intrapartum treatment procedure in a patient with arthrogryposis multiplex congenita, using continuous spinal anesthesia and intravenous nitroglycerin for uterine relaxation.
- Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis.
- Remifentanil for fetal immobilization and analgesia during the ex utero intrapartum treatment procedure under combined spinal-epidural anaesthesia.
- The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis.
- The kidney and hypertension: lessons from mouse models.