Kenneth H. Fischbeck

Histone deacetylase inhibitors reduce polyglutamine toxicity.

Toxic proteins in neurodegenerative disease.

Altered acetylation in polyglutamine disease: an opportunity for therapeutic intervention?

Altered transcriptional regulation in cells expressing the expanded polyglutamine androgen receptor.

Mutant dynactin in motor neuron disease.

Aggresomes protect cells by enhancing the degradation of toxic polyglutamine-containing protein.

Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

Aberrant histone acetylation, altered transcription, and retinal degeneration in a Drosophila model of polyglutamine disease are rescued by CREB-binding protein.

A screen for drugs that protect against the cytotoxicity of polyglutamine-expanded androgen receptor.

Spinal muscular atrophy in the neonate.

Distal spinal and bulbar muscular atrophy caused by dynactin mutation.

Therapeutics development for triplet repeat expansion diseases.

A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation.

Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons.

Akt blocks ligand binding and protects against expanded polyglutamine androgen receptor toxicity.

Safety, tolerability, and pharmacokinetics of high-dose idebenone in patients with Friedreich ataxia.

Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial.

A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20.

Regulation of SMN protein stability.

Polyglutamine-expanded androgen receptor truncation fragments activate a Bax-dependent apoptotic cascade mediated by DP5/Hrk.

Anti-androgen treatment for spinal and bulbar muscular atrophy.

GARS axonopathy: not every neuron's cup of tRNA.

Efficacy and safety of dutasteride in patients with spinal and bulbar muscular atrophy: a randomised placebo-controlled trial.

Clinical and genetic analysis of spinocerebellar ataxia in Mali.

Genetic testing and counseling for hereditary neurological diseases in Mali.

Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels.

Neurogenic and myogenic contributions to hereditary motor neuron disease.

Developing treatment for spinal and bulbar muscular atrophy.

A candidate gene for autoimmune myasthenia gravis.

Histone deacetylase inhibition suppresses myogenin-dependent atrogene activation in spinal muscular atrophy mice.

A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo.

Insulinlike growth factor (IGF)-1 administration ameliorates disease manifestations in a mouse model of spinal and bulbar muscular atrophy.

Novel mutation in the ATM gene in a Malian family with ataxia telangiectasia.

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

Common data elements for clinical research in Friedreich's ataxia.

A role for androgen reduction treatment in Kennedy disease?

The E3 ubiquitin ligase mind bomb 1 ubiquitinates and promotes the degradation of survival of motor neuron protein.

Mechanisms, models and biomarkers in amyotrophic lateral sclerosis.

Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.

Z-disc-associated, alternatively spliced, PDZ motif-containing protein (ZASP) mutations in the actin-binding domain cause disruption of skeletal muscle actin filaments in myofibrillar myopathy.

Muscle matters in Kennedy's disease.

Survival motor neuron protein deficiency impairs myotube formation by altering myogenic gene expression and focal adhesion dynamics.

Nicotinamide in Friedreich's ataxia: useful or not?

CMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila.

Assessing function and endurance in adults with spinal and bulbar muscular atrophy: validity of the adult myopathy assessment tool.

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.

Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia.

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

Proceedings of the fourth international conference on central hypoventilation.

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

Epilepsy genetics in Africa: challenges and future perspectives.

Spinal and Bulbar Muscular Atrophy Overview.

MiR-298 Counteracts Mutant Androgen Receptor Toxicity in Spinal and Bulbar Muscular Atrophy.

CNS uptake of bortezomib is enhanced by P-glycoprotein inhibition: implications for spinal muscular atrophy.

Genetics and genomic medicine in Mali: challenges and future perspectives.

Quantifying disease activity in fatty-infiltrated skeletal muscle by IDEAL-CPMG in Duchenne muscular dystrophy.

ML372 blocks SMN ubiquitination and improves spinal muscular atrophy pathology in mice.

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

Upper arm and cardiac magnetic resonance imaging in Duchenne muscular dystrophy.

A novel mutation in in a Malian family with spastic paraplegia and sensory loss.

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

Skeletal muscle water T as a biomarker of disease status and exercise effects in patients with Duchenne muscular dystrophy.

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

Respiratory magnetic resonance imaging biomarkers in Duchenne muscular dystrophy.

X-linked Charcot-Marie-Tooth Disease and Connexin32.

A Unique Mutation in Connexin32 Associated with Severe, Early Onset CMTX in a Heterozygous Female.

The polyglutamine-expanded androgen receptor has increased DNA binding and reduced transcriptional activity.

Senataxin Mutation Reveals How R-Loops Promote Transcription by Blocking DNA Methylation at Gene Promoters.

Spinal muscular atrophy.