Christopher Grunseich

Cowchock syndrome is associated with a mutation in apoptosis-inducing factor.

RNA-DNA differences are generated in human cells within seconds after RNA exits polymerase II.

Stem cell-derived motor neurons from spinal and bulbar muscular atrophy patients.

Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat.

Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies.

Protein arginine methyltransferase 6 enhances polyglutamine-expanded androgen receptor function and toxicity in spinal and bulbar muscular atrophy.

Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency.

Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia.

Development of a protein marker panel for characterization of human induced pluripotent stem cells (hiPSCs) using global quantitative proteome analysis.

A functional scale for spinal and bulbar muscular atrophy: Cross-sectional and longitudinal study.

A randomized controlled trial of exercise in spinal and bulbar muscular atrophy.

Spinal and Bulbar Muscular Atrophy.

RNA-DNA sequence differences in Saccharomyces cerevisiae.

Adenylyl cyclase activating polypeptide reduces phosphorylation and toxicity of the polyglutamine-expanded androgen receptor in spinobulbar muscular atrophy.

Hippocampal sclerosis and mesial temporal lobe epilepsy in chorea-acanthocytosis: a case with clinical, pathologic and genetic evaluation.

Decreased Motor Neuron Support by SMA Astrocytes due to Diminished MCP1 Secretion.

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.

Patient-identified impact of symptoms in spinal and bulbar muscular atrophy.

Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges.

Nonalcoholic fatty liver disease in spinal and bulbar muscular atrophy.

Beyond motor neurons: expanding the clinical spectrum in Kennedy's disease.

Transcription Factor-Mediated Differentiation of Human iPSCs into Neurons.

Safety, tolerability, and preliminary efficacy of an IGF-1 mimetic in patients with spinal and bulbar muscular atrophy: a randomised, placebo-controlled trial.

Radiation-induced astrocyte senescence is rescued by Δ133p53.

Clinical and Molecular Aspects of Senataxin Mutations in Amyotrophic Lateral Sclerosis 4.

Intracellular calcium leak as a therapeutic target for RYR1-related myopathies.

Molecular pathogenesis of spinal bulbar muscular atrophy (Kennedy's disease) and avenues for treatment.