Christopher Grunseich

Neurogenetics Branch, National Institutes of Health

Affiliated withNational Institutes of Health

Research Area

Genetics

Biography

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JoVE Journal Publications

ArticleTotal : 1	Year
Publication title	2021

Other Publications

Article	Year
Cowchock syndrome is associated with a mutation in apoptosis-inducing factor. American journal of human genetics\| PubMed ID: 23217327	2012
RNA-DNA differences are generated in human cells within seconds after RNA exits polymerase II. Cell reports\| PubMed ID: 24561252	2014
Stem cell-derived motor neurons from spinal and bulbar muscular atrophy patients. Neurobiology of disease\| PubMed ID: 24925468	2014
Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat. Neuromuscular disorders : NMD\| PubMed ID: 25047668	2014
Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies. Neuromuscular disorders : NMD\| PubMed ID: 25307854	2015
Protein arginine methyltransferase 6 enhances polyglutamine-expanded androgen receptor function and toxicity in spinal and bulbar muscular atrophy. Neuron\| PubMed ID: 25569348	2015
Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency. Journal of neurology\| PubMed ID: 25736553	2015
Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia. JAMA neurology\| PubMed ID: 25751282	2015
Development of a protein marker panel for characterization of human induced pluripotent stem cells (hiPSCs) using global quantitative proteome analysis. Stem cell research\| PubMed ID: 25840413	2015
A functional scale for spinal and bulbar muscular atrophy: Cross-sectional and longitudinal study. Neuromuscular disorders : NMD\| PubMed ID: 25913211	2015
A randomized controlled trial of exercise in spinal and bulbar muscular atrophy. Annals of clinical and translational neurology\| PubMed ID: 26273686	2015
Spinal and Bulbar Muscular Atrophy. Neurologic clinics\| PubMed ID: 26515625	2015
RNA-DNA sequence differences in Saccharomyces cerevisiae. Genome research\| PubMed ID: 27638543	2016
Adenylyl cyclase activating polypeptide reduces phosphorylation and toxicity of the polyglutamine-expanded androgen receptor in spinobulbar muscular atrophy. Science translational medicine\| PubMed ID: 28003546	2016
Hippocampal sclerosis and mesial temporal lobe epilepsy in chorea-acanthocytosis: a case with clinical, pathologic and genetic evaluation. Neuropathology and applied neurobiology\| PubMed ID: 28398599	2017
Decreased Motor Neuron Support by SMA Astrocytes due to Diminished MCP1 Secretion. The Journal of neuroscience : the official journal of the Society for Neuroscience\| PubMed ID: 28450545	2017
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. Nature communications\| PubMed ID: 28681861	2017
Patient-identified impact of symptoms in spinal and bulbar muscular atrophy. Muscle & nerve\| PubMed ID: 28877556	2018
Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges. Muscle & nerve\| PubMed ID: 28981955	2018
Nonalcoholic fatty liver disease in spinal and bulbar muscular atrophy. Neurology\| PubMed ID: 29142082	2017
Beyond motor neurons: expanding the clinical spectrum in Kennedy's disease. Journal of neurology, neurosurgery, and psychiatry\| PubMed ID: 29353237	2018
Transcription Factor-Mediated Differentiation of Human iPSCs into Neurons. Current protocols in cell biology\| PubMed ID: 29924488	2018
Safety, tolerability, and preliminary efficacy of an IGF-1 mimetic in patients with spinal and bulbar muscular atrophy: a randomised, placebo-controlled trial. The Lancet. Neurology\| PubMed ID: 30337273	2018
Radiation-induced astrocyte senescence is rescued by Δ133p53. Neuro-oncology\| PubMed ID: 30615147	2019
Clinical and Molecular Aspects of Senataxin Mutations in Amyotrophic Lateral Sclerosis 4. Annals of neurology\| PubMed ID: 31957062	2020
Intracellular calcium leak as a therapeutic target for RYR1-related myopathies. Acta neuropathologica\| PubMed ID: 32236737	2020
Molecular pathogenesis of spinal bulbar muscular atrophy (Kennedy's disease) and avenues for treatment. Current opinion in neurology\| PubMed ID: 32773451	2020