Last Updated: 09/26/2026
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Found 8 publications
Trial-ready external controls for gene therapy: The MATCH cohort in maple syrup urine disease.
Journal: Cell reports. Medicine
Published: December 22, 2025
Metformin therapy to facilitate weight loss in adults with classic maple syrup urine disease.
Journal: Molecular genetics and metabolism
Published: September 04, 2025
Growth cone macropinocytosis of neurotrophin receptor and neuritogenesis are regulated by neuron navigator 1.
Journal: Molecular biology of the cell
Published: March 30, 2022
Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy.
Journal: Nature communications
Published: January 05, 2018
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.
Journal: Brain : a journal of neurology
Published: December 05, 2014
CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.
Journal: American journal of human genetics
Published: November 16, 2014
Showing 1-8 of 8
Last Updated: 09/26/2026