Associated Papers
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.
Josephs KS et al.
Genome Medicine, 2024
AIF translocation into nucleus caused by Aifm1 R450Q mutation: generation and characterization of a mouse model for AUNX1.
Shi T et al.
Human Molecular Genetics, 2024
NADH improves AIF dimerization and inhibits apoptosis in iPSCs-derived neurons from patients with auditory neuropathy spectrum disorder.
Qiu Y et al.
Hearing Research, 2024
A Missense Variant in AIFM1 Caused Mitochondrial Dysfunction and Intolerance to Riboflavin Deficiency.
Zhao Y et al.
Neuromolecular Medicine, 2023
AIFM1 variants associated with auditory neuropathy spectrum disorder cause apoptosis due to impaired apoptosis-inducing factor dimerization.
Qiu Y et al.
Journal of Zhejiang University. Science. B, 2023
Identification of a novel AIFM1 variant from a Chinese family with auditory neuropathy.
Wang R et al.
Frontiers in Genetics, 2022
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
Schon KR et al.
Bmj (clinical Research Ed.), 2021
Molecular Insights into Mitochondrial Protein Translocation and Human Disease.
Ruiz-Pesini E et al.
Genes, 2021
The expanding genetic landscape of hereditary motor neuropathies.
Beijer D et al.
Brain : a Journal of Neurology, 2020
High Frequency of AIFM1 Variants and Phenotype Progression of Auditory Neuropathy in a Chinese Population.
Wang H et al.
Neural Plasticity, 2020
Novel Mutation in AIFM1 Gene Associated with X-Linked Deafness in a Moroccan Family.
Elrharchi S et al.
Human Heredity, 2020
WAH-1/AIF regulates mitochondrial oxidative phosphorylation in the nematode Caenorhabditis elegans.
Troulinaki K et al.
Cell Death Discovery, 2018
Mitochondrial diseases caused by dysfunctional mitochondrial protein import.
Jackson TD et al.
Biochemical Society Transactions, 2018
A disease-associated Aifm1 variant induces severe myopathy in knockin mice.
Wischhof L et al.
Molecular Metabolism, 2018
Apoptosis-Inducing Factor (AIF) in Physiology and Disease: The Tale of a Repented Natural Born Killer.
Bano D et al.
Ebiomedicine, 2018
Mutations in AIFM1 cause an X-linked childhood cerebellar ataxia partially responsive to riboflavin.
Heimer G et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018
A novel missense mutation in AIFM1 results in axonal polyneuropathy and misassembly of OXPHOS complexes.
Hu B et al.
European Journal of Neurology, 2017
A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation.
Sancho P et al.
Neurogenetics, 2017
Paradoxical Inhibition of Glycolysis by Pioglitazone Opposes the Mitochondriopathy Caused by AIF Deficiency.
Bénit P et al.
Ebiomedicine, 2017
AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant.
Morton SU et al.
Cold Spring Harbor Molecular Case Studies, 2017
A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease.
Diodato D et al.
European Journal of Human Genetics : Ejhg, 2016
Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder.
Zong L et al.
Journal of Medical Genetics, 2015
From ventriculomegaly to severe muscular atrophy: expansion of the clinical spectrum related to mutations in AIFM1.
Kettwig M et al.
Mitochondrion, 2015
Role of apoptosis-inducing factor (Aif) in the T cell lineage.
Prabhu SB et al.
The Indian Journal of Medical Research, 2013
Cowchock syndrome is associated with a mutation in apoptosis-inducing factor.
Rinaldi C et al.
American Journal of Human Genetics, 2012
Infantile mitochondrial encephalopathy.
Uziel G et al.
Seminars in Fetal & Neonatal Medicine, 2011
Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor.
Ghezzi D et al.
American Journal of Human Genetics, 2010
Whole exome sequencing identifies a novel variant in an apoptosis-inducing factor gene associated with X-linked recessive hearing loss in a Chinese family.
Wang Q et al.
Genetics and Molecular Biology, 0