Condition: Neurodegeneration Due To Cerebral Folate Transport Deficiency


rs121918405 in FOLR1 gene and Neurodegeneration Due To Cerebral Folate Transport Deficiency PMID 20018644 2009 Congenital null mutations of the FOLR1 gene: a progressive neurologic disease and its treatment.

PMID 19732866 2009 Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism.

rs201431517 in MTFMT gene and Neurodegeneration Due To Cerebral Folate Transport Deficiency PMID 21907147 2011 Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.

PMID 24461907 2014 Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.