Physician
Neurology
Dr. Kenneth H. Fischbeck, MD
|
|
Give Review
Kenneth Fischbeck works in the field of Neurology. He went to Johns Hopkins University School of Medicine. Johns Hopkins University School of Medicine is a one of the best medicals schools. Johns Hopkins University School of Medicine has a rank of 3 in research and a 29 in primary care He over the years received 1 awards: "Elected Member". Kenneth Fischbeck is a published doctor. He has 75 papers published. The most current publication "Cerebral abscess in children secondary to esophageal dilatation."
Publications
- Spinal and Bulbar Muscular Atrophy.
- Spinal and Bulbar Muscular Atrophy Overview.
- Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia.
- Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency.
- Results of a two-year pilot study of clinical outcome measures in collagen VI-related myopathy and LAMA2-related muscular dystrophy.
- Stem cell-derived motor neurons from spinal and bulbar muscular atrophy patients.
- Nicotinamide in Friedreich's ataxia: useful or not?
- Survival motor neuron protein deficiency impairs myotube formation by altering myogenic gene expression and focal adhesion dynamics.
- Muscle Matters in Kennedy's Disease.
- Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan Africa.
- Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12.
- The E3 ubiquitin ligase mind bomb 1 ubiquitinates and promotes the degradation of survival of motor neuron protein.
- A role for androgen reduction treatment in Kennedy disease?
- A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo.
- Cowchock syndrome is associated with a mutation in apoptosis-inducing factor.
- Histone deacetylase inhibition suppresses myogenin-dependent atrogene activation in spinal muscular atrophy mice.
- Developing treatment for spinal and bulbar muscular atrophy.
- Charcot-Marie-Tooth-Linked Mutant GARS Is Toxic to Peripheral Neurons Independent of Wild-Type GARS Levels.
- Increasing expression and decreasing degradation of SMN ameliorate the spinal muscular atrophy phenotype in mice.
- Amyotrophic lateral sclerosis and spinocerebellar ataxia 2.
- B2 attenuates polyglutamine-expanded androgen receptor toxicity in cell and fly models of spinal and bulbar muscular atrophy.
- Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.
- Overexpression of IGF-1 in muscle attenuates disease in a mouse model of spinal and bulbar muscular atrophy.
- 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.
- WITHDRAWN: Familial Degenerative Encephalopathy with Intracranial Calcification and Metaphyseal Dysplasia.
- Expression of expanded polyglutamine targets profilin for degradation and alters actin dynamics.
- Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance.
- Safety, tolerability, and pharmacokinetics of high-dose idebenone in patients with Friedreich ataxia.
- Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy.
- Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons.
- The effects of a dominant connexin32 mutant in myelinating Schwann cells.
- A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation.
- Distal spinal and bulbar muscular atrophy caused by dynactin mutation.
- Severe neuropathy with leaky connexin32 hemichannels.
- Transgenic expression of human connexin32 in myelinating Schwann cells prevents demyelination in connexin32-null mice.
- DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).
- Spinal muscular atrophy in the neonate.
- Valproic acid increases SMN levels in spinal muscular atrophy patient cells.
- Aberrant histone acetylation, altered transcription, and retinal degeneration in a Drosophila model of polyglutamine disease are rescued by CREB-binding protein.
- Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.
- Mutant dynactin in motor neuron disease.
- Jaw drop in Kennedy's disease.
- Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease.
- Toxic proteins in neurodegenerative disease.
- Running endurance abnormality in mdx mice.
- Assessing function and endurance in adults with spinal and bulbar muscular atrophy: validity of the adult myopathy assessment tool.
- Past, present, and future of polyglutamine expansion disease.
- Genetic testing and counseling for hereditary neurological diseases in Mali.
- Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies.
- Therapeutic approaches to spinal and bulbar muscular atrophy.
- Efficacy and safety of dutasteride in patients with spinal and bulbar muscular atrophy: a randomised placebo-controlled trial.
- GARS axonopathy: not every neuron''s cup of tRNA.
- Clinical features of spinal and bulbar muscular atrophy.
- 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.
- Mitochondrial abnormalities in spinal and bulbar muscular atrophy.
- Akt blocks ligand binding and protects against expanded polyglutamine androgen receptor toxicity.
- Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.
- Therapeutics development for triplet repeat expansion diseases.
- A novel cell immunoassay to measure survival of motor neurons protein in blood cells.
- The role of histone acetylation in SMN gene expression.
- A screen for drugs that protect against the cytotoxicity of polyglutamine-expanded androgen receptor.
- Aggresomes protect cells by enhancing the degradation of toxic polyglutamine-containing protein.
- Altered acetylation in polyglutamine disease: an opportunity for therapeutic intervention?
- Altered transcriptional regulation in cells expressing the expanded polyglutamine androgen receptor.
- Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington''s disease age of onset.
- Clinical experience with high-dose idebenone in Friedreich ataxia.
- Standard and modified statistical MUNE evaluations in spinal-bulbar muscular atrophy.
- Altered gene expression and DNA damage in peripheral blood cells from Friedreich's ataxia patients: cellular model of pathology.
- Carrier testing for spinal muscular atrophy.
- Cerebral abscess in children secondary to esophageal dilatation.
- A small-molecule Nrf1 and Nrf2 activator mitigates polyglutamine toxicity in spinal and bulbar muscular atrophy.
Schools
Johns Hopkins University School of Medicine
Case West Res University Hospital
University Of Pennsylvania
Doctors Specialties
- Neurology
Accepted Insurances
Awards
- Elected Member
Education
-
UCSF -
Case Western Reserve University - University Hospitals -
Johns Hopkins University School of Medicine
Helpful Reviews
Similar Doctors
|
|
Dr. Regine Reimers, DO |
|
|
Dr. Matthew D. Holtkamp, DO |
|
|
Dr. Josh L. Duckworth, MD
 This Doctor is OpenDoctor Recommended.
|
|
|
Dr. Beth A. Belluscio, MD |
|
|
Dr. Carl H. Gunderson, MD |
|
|
Dr. Teresa A. Podruchny, MD |
|
|
Dr. Edwin Y. Park, MD
This Doctor is OpenDoctor Recommended.
|
|
|
Dr. Katharine A. McNeill, MD
This Doctor is OpenDoctor Recommended.
|
|
|
Dr. Olavo M. Vasconcelos Jr., MD
This Doctor is OpenDoctor Recommended.
|
|
|
Dr. Anthony S. Panettiere Jr., MD
This Doctor is OpenDoctor Recommended.
|
|
|
Dr. Kevin R. Cannard, MD
This Doctor is OpenDoctor Recommended.
|
|
|
Dr. Ted Rothstein, MD
This Doctor is OpenDoctor Recommended.
|