Variants of the elongator protein 3 ( ELP3 ) gene are associated with motor neuron degeneration

Claire L. Simpson, Robin Lemmens, Katarzyna Miśkiewicz, +27

Human Molecular Genetics

Reduced expression of the <i>Kinesin-Associated Protein 3</i> ( <i>KIFAP3</i> ) gene increases survival in sporadic amyotrophic lateral sclerosis

John E. Landers, Judith Melki, Vincent Meininger, +43

Proceedings of the National Academy of Sciences

D90A-SOD1 mediated amyotrophic lateral sclerosis: A single founder for all cases with evidence for aCis-acting disease modifier in the recessive haplotype

M. Parton, Wendy Broom, Peter M. Andersen, +4

Human Mutation

Activation of human STING by a molecular glue-like compound

Jie Li, Stephen M. Canham, Hua Wu, +32

Nature Chemical Biology

An Empirical Antigen Selection Method Identifies Neoantigens That Either Elicit Broad Antitumor T-cell Responses or Drive Tumor Growth

Hubert Lam, Lisa K. McNeil, Hanna Starobinets, +21

Cancer Discovery

50bp deletion in the promoter for superoxide dismutase 1 (SOD1) reduces SOD1 expression in vitro and may correlate with increased age of onset of sporadic amyotrophic lateral sclerosis

Wendy Broom, Matthew Greenway, Ghazaleh Sadri‐Vakili, +19

Amyotrophic Lateral Sclerosis

GeneticsHuman PolymorphismDisease Gene IdentificationGenomicsEpigenetics +21

Analysis of a genetic defect in the TATA box of the <i>SOD1</i> gene in a patient with familial amyotrophic lateral sclerosis

Stephan Niemann, Wendy Broom, Robert Brown

Muscle & Nerve

Tata BoxNeurodegenerative DiseasesAmyotrophic Lateral SclerosisSequence VariationMedicine +12

SOD1A4V-mediated ALS: Absence of a closely linked modifier gene and origination in Asia

Wendy Broom, D. V. Johnson, Kristen E. Auwarter, +7

Neuroscience Letters

Amyotrophic Lateral SclerosisSod1a4v-mediated AlsGeneticsPathogenesisPathology +2

Precision targeting of β-catenin induces tumor reprogramming and immunity in hepatocellular cancers

Brandon M. Lehrich, Evan R. Delgado, Tyler M. Yasaka, +32

Nature Communications

Should we refer for a dementia assessment? A checklist to help know when to be concerned about dementia in adults with Down syndrome and other intellectual disabilities

Sarah Whitwham, Judith McBrien, Wendy Broom

British Journal of Learning Disabilities

Geriatric PsychiatryCounselingNew ReferralsDementia ServiceDisability +21