| Q38589445 | A Review of X-linked Charcot-Marie-Tooth Disease |
| Q55435412 | A disease-associated Aifm1 variant induces severe myopathy in knockin mice. |
| Q28246639 | A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease |
| Q47702623 | A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation. |
| Q38502090 | A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease |
| Q55286697 | A novel CHCHD10 mutation implicates a Mia40-dependent mitochondrial import deficit in ALS. |
| Q47829716 | A novel missense mutation in AIFM1 results in axonal polyneuropathy and misassembly of OXPHOS complexes. |
| Q30397903 | A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders |
| Q36270879 | AIF inhibits tumor metastasis by protecting PTEN from oxidation |
| Q62016936 | AIF promotes a JNK1-mediated cadherin switch independently of respiratory chain stabilization |
| Q37678110 | AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant |
| Q57299773 | Apoptosis inducing factor deficiency causes retinal photoreceptor degeneration. The protective role of the redox compound methylene blue |
| Q55265243 | Apoptosis-Inducing Factor (AIF) in Physiology and Disease: The Tale of a Repented Natural Born Killer. |
| Q35997632 | Basal metabolic state governs AIF-dependent growth support in pancreatic cancer cells. |
| Q36998017 | CHCHD4 links AIF to the biogenesis of respiratory chain complex I. |
| Q38201741 | Charcot-Marie-Tooth disease and pathways to molecular based therapies |
| Q46150120 | Defining NADH-Driven Allostery Regulating Apoptosis-Inducing Factor |
| Q47351811 | Detergent Insoluble Proteins and Inclusion Body-Like Structures Immunoreactive for PRKDC/DNA-PK/DNA-PKcs, FTL, NNT, and AIFM1 in the Amygdala of Cognitively Impaired Elderly Persons. |
| Q64898477 | Diagnostic Yields of Trio-WES Accompanied by CNVseq for Rare Neurodevelopmental Disorders. |
| Q35984327 | Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy |
| Q33620795 | Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy |
| Q92180784 | Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series |
| Q28077589 | Key Targets for Multi-Target Ligands Designed to Combat Neurodegeneration |
| Q36293830 | Loss of apoptosis-inducing factor critically affects MIA40 function. |
| Q36187248 | Metabolic epistasis among apoptosis-inducing factor and the mitochondrial import factor CHCHD4. |
| Q52807500 | Microscale 3D Liver Bioreactor for In Vitro Hepatotoxicity Testing under Perfusion Conditions. |
| Q38932389 | Mitochondrial disulfide relay and its substrates: mechanisms in health and disease. |
| Q38736014 | Mitochondrial dysfunction underlies cognitive defects as a result of neural stem cell depletion and impaired neurogenesis. |
| Q30405518 | Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder |
| Q33724242 | Neuroglobin gene therapy prevents optic atrophy and preserves durably visual function in Harlequin mice |
| Q37686243 | Next-generation sequencing for mitochondrial disorders |
| Q36184604 | Next-generation sequencing in X-linked intellectual disability |
| Q38139602 | Peripheral neuropathy in mitochondrial disorders |
| Q28118095 | SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease |
| Q50316569 | Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease. |
| Q36246291 | The Effect of a Novel c.820C>T (Arg274Trp) Mutation in the Mitofusin 2 Gene on Fibroblast Metabolism and Clinical Manifestation in a Patient. |
| Q98733497 | The human papillomavirus E6 protein targets apoptosis-inducing factor (AIF) for degradation |
| Q55027001 | WAH-1/AIF regulates mitochondrial oxidative phosphorylation in the nematode Caenorhabditis elegans. |
| Q92684439 | Whole exome sequencing identifies a novel variant in an apoptosis-inducing factor gene associated with X-linked recessive hearing loss in a Chinese family |
| Q57171854 | X-Linked Sensorineural Hearing Loss: A Literature Review |
| Q54220036 | X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) patients with a p.R158H mutation in the pyruvate dehydrogenase kinase isoenzyme 3 gene. |
| Q40156896 | X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome. |
| Q47124322 | X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1. |