William Allen Gahl

This study reports 5-year safety and 3-year clinical outcomes of AAV9-GLB1 gene therapy in a juvenile GM1 gangliosidosis patient, showing sustained seizure freedom and biochemical improvements.

Four mitochondrial functional tests in fibroblasts show good sensitivity and excellent specificity for diagnosing primary mitochondrial disease.

This phase 1/2 trial evaluates AAV9 gene therapy for GM1 gangliosidosis Type II, showing safety and some biochemical and neuroimaging improvements.

This study evaluates automated MRI segmentation pipelines in GM1 gangliosidosis patients and controls, finding some methods comparable to manual segmentation for specific brain structures.

The paper identifies a POLR3B variant causing mis-splicing and altered Pol III transcriptome, revealing La protein's role in reshaping small ncRNA profiles and identifying tRF-1/tRF-3 as biomarkers for POLR3 deficiency.

The paper develops CLN6 patient-derived iPSC models to study neurodegeneration, finding significant lysosomal and synaptic pathway changes in differentiated neurons.

The paper identifies a de novo FOXR1 variant causing microcephaly and brain atrophy by impairing stress response pathways.

The paper investigates PRUNE1 variants causing NMIHBA, showing they disrupt exopolyphosphatase activity and lead to neurodevelopmental defects in mice.

This study investigates the role of PHETA1/2 in zebrafish, showing that their deficiency causes renal and craniofacial defects, and links a patient variant to disease pathogenesis.