Associated Papers
Novel MTHFR variants manifesting with hereditary spastic paraplegia and recurrent pulmonary embolism: a case report and literature review of adult-onset severe MTHFR deficiency.
Li YX et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2026
A study of Iraqi patients with homocysteine remethylation disorders in a tertiary pediatric centre.
Al-Tai MR et al.
Molecular Genetics and Metabolism Reports, 2025
Functional Evaluation of Neural Tube Defect-Related Missense Mutations Using In Silico Methods.
Biterge Sut B
Birth Defects Research, 2025
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
Compound heterozygous variants of MTHFR presenting as treatable leukodystrophy with reversible visuospatial deficits.
Chakraborty A et al.
Acta Neurologica Belgica, 2023
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
A Glance into MTHFR Deficiency at a Molecular Level.
Savojardo C et al.
International Journal of Molecular Sciences, 2021
Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency.
Marelli C et al.
Journal of Inherited Metabolic Disease, 2021
Methylenetetrahydrofolate Reductase Deficiency as a Cause of Treatable Adult-onset Leukoencephalopathy and Myelopathy.
Senthilvelan S et al.
Clinical Neuroradiology, 2021
Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.
Froese DS et al.
Human Mutation, 2016
Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients.
Burda P et al.
Human Mutation, 2015
[Molecular genetics of MTHFR: polymorphisms are not all benign].
Leclerc D et al.
Medecine Sciences : M/s, 2007
Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD-responsive mutation.
Sibani S et al.
Human Mutation, 2003
Clinical, Biochemical, Radiological, and Genetic Profile of Patients with Homocysteine Remethylation Pathway Defect and Spastic Paraplegia.
Padmanabha H et al.
Annals of Indian Academy of Neurology, 0
MTHFR Deficiency: A Potentially Treatable Cause of Adult-Onset Hereditary Spastic Paraparesis.
Sudheer P et al.
Annals of Indian Academy of Neurology, 0
Adolescent/Adult-Onset Leukodystrophy with MTHFR Deficiency - A Treatable Cause.
Kumar NH et al.
Neurology India, 0