First case report of cerebral folate deficiency caused by a novel mutation of FOLR1 gene in a Chinese patient

The metabolic basis for developmental disorders due to defective folate transport

(2016) Ankuri Desai et al.   BIOCHIMIE

Neurological improvement following intravenous high-dose folinic acid for cerebral folate transporter deficiency caused by FOLR-1 mutation

(2016) Françoise Delmelle et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Structural and functional insights on folate receptor α (FRα) by homology modeling, ligand docking and molecular dynamics

(2013) Stefano Della-Longa et al.   JOURNAL OF MOLECULAR GRAPHICS & MODELLING

Structural basis for molecular recognition of folic acid by folate receptors

(2013) Chen Chen et al.   NATURE

Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood

(2013) Chihiro Ohba et al.   NEUROGENETICS

Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency

(2012) M. Grapp et al.   BRAIN

The etiologic classification of epilepsy

(2011) Simon D. Shorvon   EPILEPSIA

Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM)

(2011) Patricia Dill et al.   MOLECULAR GENETICS AND METABOLISM

Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene

(2010) Belén Pérez-Dueñas et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Folate Receptor Alpha Defect Causes Cerebral Folate Transport Deficiency: A Treatable Neurodegenerative Disorder Associated with Disturbed Myelin Metabolism

(2009) Robert Steinfeld et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CONGENITAL NULL MUTATIONS OF THE FOLR1 GENE: A PROGRESSIVE NEUROLOGIC DISEASE AND ITS TREATMENT

(2009) H. Cario et al.   NEUROLOGY