Disease: Luteinizing hormone releasing hormone- deficiency of with ataxia
- A novel mutation in <em>RNF216</em> gene in an Indian case with Gordon Holmes syndrome
- A novel mutation in RNF216 gene in a Turkish case with Gordon Holmes syndrome
- Clinical and Genetic Characterization of Autosomal Recessive Spinocerebellar Ataxia Type 16 (SCAR16) in Taiwan
- Establishment of FDHSi003-A, a human induced pluripotent stem cell (hiPSC) line with a mutation of RNF216 c.1948G > T
- Establishment of STUB1/CHIP mutant induced pluripotent stem cells (iPSCs) from a patient with Gordon Holmes syndrome/SCAR16
- Gordon Holmes syndrome caused by two novel mutations in the PNPLA6 gene
- Gordon Holmes syndrome due to compound heterozygosity of two new <em>PNPLA6</em> variants - A diagnostic challenge
- Gordon Holmes Syndrome Model Mice Exhibit Alterations in Microglia, Age, and Sex-Specific Disruptions in Cognitive and Proprioceptive Function
- Gordon Holmes syndrome: finally genotype meets phenotype
- Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids
- Kallmann Syndrome
- Kallmann Syndrome
- Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism
- Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome
- Mechanism and chain specificity of RNF216/TRIAD3, the ubiquitin ligase mutated in Gordon Holmes syndrome
- PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum
- Rare case of Gordon Holmes syndrome
- Structural basis of K63-ubiquitin chain formation by the Gordon-Holmes syndrome RBR E3 ubiquitin ligase RNF216
- STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations
- TRIAD3/RNF216 mutations associated with Gordon Holmes syndrome lead to synaptic and cognitive impairments via Arc misregulation
- Whole-Exome Sequencing Identified a Novel Mutation in RNF216 in a Family with Gordon Holmes Syndrome