Fat Aussie—A New Alstrom Syndrome Mouse Showing a Critical Role for ALMS1 in Obesity, Diabetes, and Spermatogenesis

Todor Arsov, Diego G. Silva, Moira K. O’Bryan, +10

Molecular Endocrinology

Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6

Todor Arsov, Katherine R. Smith, John A. Damiano, +19

The American Journal of Human Genetics

Neuro-oncologyKufs DiseasePathologyMajor Adult FormNeurology +5

Glucose transporter 1 deficiency in the idiopathic generalized epilepsies

Todor Arsov, Saul A. Mullen, Sue Rogers, +10

Annals of Neurology

Glucose Transporter 1 Deficiency as a Treatable Cause of Myoclonic Astatic Epilepsy

Saul A. Mullen, Carla Marini, Arvid Suls, +10

Archives of Neurology

Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus

Simon Jiang, Vicki Athanasopoulos, Julia I. Ellyard, +38

Nature Communications

Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency

Todor Arsov, Saul A. Mullen, John A. Damiano, +10

Epilepsia

Clinical DisordersGenetic DisorderGeneticsInherited Metabolic DiseaseGenetic Epidemiology +10

Adaptive failure to high-fat diet characterizes steatohepatitis in Alms1 mutant mice

Todor Arsov, Claire Z. Larter, Christopher J. Nolan, +5

Biochemical and Biophysical Research Communications

ObesityMetabolic SyndromeInflammationLipid NutritionLiver Physiology +8

De novo <i>SCN1A</i> mutations in migrating partial seizures of infancy

Daniel Carranza Rojo, L Hamiwka, Jacinta M. McMahon, +17

Neurology

Strain dependence of diet‐induced <scp>NASH</scp> and liver fibrosis in obese mice is linked to diabetes and inflammatory phenotype

Geoffrey C. Farrell, Auvro R. Mridha, Matthew M. Yeh, +11

Liver International

P2RY8 variants in lupus patients uncover a role for the receptor in immunological tolerance

Yuke He, Antonia E. Gallman, Chengmei Xie, +25

The Journal of Experimental Medicine