Pamela McCombe

The paper identifies tissue-informative DNA methylation sites in ALS using targeted sequencing and machine learning, showing accurate prediction of disease status and progression.

The paper performs RNA-seq analysis of skeletal muscle in ALS patients and controls to identify differentially expressed genes and isoform switches associated with motor neuron disease.

The paper identifies biallelic loss-of-function OBSCN variants in six patients with severe, recurrent rhabdomyolysis and shows reduced OBSCN expression and impaired SR Ca2+ handling in patient muscle.

This study investigates altered glucose-fatty acid flux in ALS using mouse models and patient-derived myotubes, finding increased fatty acid oxidation linked to slower disease progression but with metabolic heterogeneity across patients.

This study shows that immunotherapy reduces disability and relapses in relapsing multiple sclerosis over 15 years.