K. Fischbeck

发表

Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment

A. Monaco, M. Pericak-Vance, C. Bertelson, 1985, Nature.

Measuring Friedreich ataxia: Interrater reliability of a neurologic rating scale

M. Hallett, D. Lynch, K. Fischbeck, 2005, Neurology.

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

K. Fischbeck, D. Lubahn, A. Spada, 1991, Nature.

CREB-binding protein sequestration by expanded polyglutamine.

K. Fischbeck, H. Paulson, G. Sobue, 2000, Human molecular genetics.

The homologue of the Duchenne locus is defective in X-linked muscular dystrophy of dogs

Eric P. Hoffman, Joe N. Kornegay, Louis M. Kunkel, 1988, Nature.

Toxic Proteins in Neurodegenerative Disease

K. Fischbeck, J. Hardy, J. Taylor, 2002, Science.

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

K. Fischbeck, T. Godenschwege, P. D. Rijk, 2014, Neurobiology of Disease.

Common data elements for clinical research in Friedreich's ataxia

K. Fischbeck, P. Kaufmann, S. Perlman, 2013, Movement disorders : official journal of the Movement Disorder Society.

Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C

K. Fischbeck, M. Caterina, C. Ludlow, 2010, Nature Genetics.

Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family

Janel O. Johnson, K. Fischbeck, B. Traynor, 2012, Neurology.

Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance.

D. Hernandez, A. Singleton, K. Fischbeck, 2008, American journal of human genetics.

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

K. Fischbeck, E. Green, J. Vance, 2003, American journal of human genetics.

Enabling Genomic Revolution in Africa

Faisal M. Fadlelmola, Dan J Stein, Ebony B Madden, 2019, The Genetics of African Populations in Health and Disease.

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

K. Fischbeck, R. Balice-Gordon, S. Scherer, 1997, Neurobiology of disease.

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

K. Fischbeck, N. D. Prospero, A. Baker, 2007, The Lancet Neurology.

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

Fumiaki Tanaka, K. Fischbeck, J. Taylor, 2003, Human molecular genetics.

Meiotic stability and genotype – phenotype correlation of the trinucleotide repeat in X–linked spinal and bulbar muscular atrophy

C. L. Warner, K. Fischbeck, A. Spada, 1992, Nature Genetics.

Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies.

K. Fischbeck, P. Chance, K. Fischbeck, 1994, Human molecular genetics.

The mechanism of myotonic dystrophy

K. Fischbeck, 1994, Annals of neurology.

Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset.

Karen Marder, Norman Arnheim, Ira Shoulson, 2004, Proceedings of the National Academy of Sciences of the United States of America.

DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).

John W Griffin, Imke Puls, K. Fischbeck, 2004, American journal of human genetics.

Expanded Polyglutamine Protein Forms Nuclear Inclusions and Causes Neural Degeneration in Drosophila

Nancy M Bonini, K. Fischbeck, H. Paulson, 1998, Cell.

A novel cell immunoassay to measure survival of motor neurons protein in blood cells

K. Fischbeck, G. Dreyfuss, A. Gubitz, 2006, BMC neurology.

Does the survival motor neuron copy number variation play a role in the onset and severity of sporadic amyotrophic lateral sclerosis in Malians?

K. Fischbeck, Barrington G. Burnett, S. Traore, 2016, eNeurologicalSci.

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

K. Fischbeck, J. Caviston, E. Holzbaur, 2006, The Journal of cell biology.

Connexin32‐null mice develop demyelinating peripheral neuropathy

K. Fischbeck, K. Willecke, S. Scherer, 1998, Glia.

Cerebellar atrophy in a patient with velocardiofacial syndrome.

E. Zackai, K. Fischbeck, B. Emanuel, 1995, Journal of medical genetics.

Increasing expression and decreasing degradation of SMN ameliorate the spinal muscular atrophy phenotype in mice.

K. Fischbeck, Barrington G. Burnett, Deborah Y. Kwon, 2011, Human molecular genetics.

Functional Analyses of Glycyl-tRNA Synthetase Mutations Suggest a Key Role for tRNA-Charging Enzymes in Peripheral Axons

K. Fischbeck, E. Green, S. Lee-Lin, 2006, The Journal of Neuroscience.

Ataxin 1 and ataxin 3 in neuronal intranuclear inclusion disease.

K. Fischbeck, J. Trojanowski, T. Bird, 1999, Annals of neurology.

Severe neuropathy with leaky connexin32 hemichannels

K. Fischbeck, J. Glass, S. Scherer, 2005, Annals of neurology.

Transgenic Expression of Human Connexin32 in Myelinating Schwann Cells Prevents Demyelination in Connexin32-Null Mice

K. Fischbeck, K. Willecke, L. Jeng, 2005, The Journal of Neuroscience.

Nucleic acid therapeutics in neurodevelopmental disease.

K. Fischbeck, Audrey M Winkelsas, Audrey M. Winkelsas, 2020, Current opinion in genetics & development.

Mechanisms, models and biomarkers in amyotrophic lateral sclerosis

Albert Ludolph, Seward B. Rutkove, Martin R. Turner, 2013, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Neurological manifestations of accidental hypothermia

K. Fischbeck, R. P. Simon, 1981, Annals of neurology.

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

Joshua T. Burdick, K. Fischbeck, V. Cheung, 2018, Molecular cell.

Proceedings of the fourth international conference on central hypoventilation

K. Fischbeck, T. Similowski, H. Rohrer, 2014, Orphanet Journal of Rare Diseases.

Genetics of low spinal muscular atrophy carrier frequency in sub‐Saharan Africa

A. Singleton, K. Fischbeck, M. Fay, 2014, Annals of neurology.

Chronic tetanus: Clinical report and histochemistry of muscle

K. Fischbeck, R. Layzer, P. Cancilla, 1981, Muscle & nerve.

Microsatellite mutation (CAG24-->18) in the androgen receptor gene in human prostate cancer.

K. Fischbeck, P. Walsh, W. Isaacs, 1994, Biochemical and biophysical research communications.

Autosomal dominant transmission of Dejerine-Sottas disease (HMSN III)

K. Fischbeck, S. Scherer, D. Lynch, 1997, Neurology.

Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19

K. Fischbeck, D. Shriner, C. Blackstone, 2010, neurogenetics.

Complicated hereditary spastic paraparesis with cerebral white matter lesions.

K. Fischbeck, D. Gutmann, J. Kamholz, 1990, American journal of medical genetics.

The Role of the Gap Junction Protein Connexin32 in the Myelin Sheath

K. Fischbeck, R. Balice-Gordon, S. Scherer, 1997 .

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

K. Fischbeck, M. Hall, Barrington G. Burnett, 2016, Neurobiology of Disease.

Paroxysmal choreoathetosis associated with thyrotoxicosis

K. Fischbeck, R. Layzer, 1979, Annals of neurology.

Altered Gene Expression and DNA Damage in Peripheral Blood Cells from Friedreich's Ataxia Patients: Cellular Model of Pathology

K. Fischbeck, J. Parker, A. Durr, 2010, PLoS genetics.

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

K. Fischbeck, Barrington G. Burnett, C. Sumner, 2012, Human molecular genetics.

GARS axonopathy: not every neuron's cup of tRNA

K. Fischbeck, K. Talbot, W. Motley, 2010, Trends in Neurosciences.

Targeting the 5′ untranslated region of SMN2 as a therapeutic strategy for spinal muscular atrophy

K. Fischbeck, M. Bowerman, K. Talbot, 2021, Molecular therapy. Nucleic acids.

Targeting the 5 0 untranslated region of SMN2 as a therapeutic strategy for spinal muscular atrophy

K. Fischbeck, M. Bowerman, K. Talbot, 2021 .

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

K. Fischbeck, M. Zeviani, L. Biesecker, 2012, American journal of human genetics.

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

K. Fischbeck, Barrington G. Burnett, L. Chernomordik, 2014, Human molecular genetics.

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

K. Fischbeck, Philip R. Lee, E. Foran, 2017, The Journal of Neuroscience.

Altered SYNJ2BP-mediated mitochondrial-ER contacts in motor neuron disease

K. Fischbeck, C. Grunseich, Eric N. Bunker, 2022, Neurobiology of Disease.

Connexin32 and X-linked Charcot–Marie–Tooth Disease

K. Fischbeck, R. Balice-Gordon, S. Scherer, 1997, Neurobiology of Disease.

The Path to Therapeutics Development for Spinal Muscular Atrophy

K. Fischbeck, 2017 .

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

M. Ferrer, K. Fischbeck, E. Androphy, 2016, JCI insight.

Genetic testing and counseling for hereditary neurological diseases in Mali

K. Fischbeck, F. Mochel, Hae-Ra Han, 2011, Journal of Community Genetics.

GJB1 variants in Charcot‐Marie‐Tooth disease X‐linked type 1 in Mali

K. Fischbeck, G. Landouré, A. Wonkam, 2022, Journal of the peripheral nervous system : JPNS.

The effects of a dominant connexin32 mutant in myelinating Schwann cells

K. Fischbeck, R. Balice-Gordon, L. Jeng, 2006, Molecular and Cellular Neuroscience.

Clinical and molecular aspects of senataxin mutations in ALS4.

K. Fischbeck, V. Cheung, C. Grunseich, 2020, Annals of neurology.

in p150 Glued perturbs dynactin function and induces protein aggregation

K. Fischbeck, J. Caviston, E. Holzbaur, 2006 .

Immunosuppression for multiple sclerosis.

K. Fischbeck, H. Weiner, M. Beal, 1983, The New England journal of medicine.

Amyotrophic lateral sclerosis and spinocerebellar ataxia 2

S. Pulst, K. Fischbeck, 2011, Neurology.

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

K. Fischbeck, J. Glass, S. Scherer, 1999, Annals of the New York Academy of Sciences.

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

K. Fischbeck, T. Lehky, Laura C. Bott, 2014, Neuromuscular Disorders.

Localization of the gene for X‐linked spinal muscular atrophy

K. Fischbeck, K. Davies, I. Hausmanowa-Petrusewicz, 1986, Neurology.

Epilepsy genetics in Africa: challenges and future perspectives.

K. Fischbeck, G. Landouré, O. Samassékou, 2014, North African and Middle East epilepsy journal.

Nonalcoholic Fatty Liver Disease in Patients with Inherited and Sporadic Motor Neuron Degeneration

K. Fischbeck, C. Blackstone, E. Shamim, 2022, Genes.

Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.

A. Singleton, K. Fischbeck, A. Vanderver, 2019, American journal of human genetics.

A candidate gene for X-linked spinal muscular atrophy.

K. Fischbeck, A. L. La Spada, A. Spada, 1991, Advances in neurology.

ZASP Mutations in Actin-binding Domain Cause Disruption of Skeletal Muscle Actin Filaments in Myofibrillar Myopathy

K. Fischbeck, P. Wingfield, J. Kaufman, 2014 .

Running endurance abnormality in mdx mice

M. Bucan, K. Fischbeck, P. Nolan, 2002, Muscle & nerve.

X‐linked Charcot‐Marie‐Tooth Disease and Connexin32

K. Fischbeck, S. Scherer, A. Abel, 1999, Annals of the New York Academy of Sciences.

SAFETY AND TOLERABILITY OF STRENGTH TRAINING IN SPINAL AND BULBAR MUSCULAR ATROPHY: A CASE REPORT

C. Zampieri, K. Fischbeck, C. Grunseich, 2022, Journal of rehabilitation medicine. Clinical communications.

CASE REPORT SAFETY AND TOLERABILITY OF STRENGTH TRAINING IN SPINAL AND BULBAR MUSCULAR ATROPHY: A CASE REPORT

C. Zampieri, K. Fischbeck, C. Grunseich, 2022 .

Combinatorial treatment for spinal muscular atrophy

K. Fischbeck, A. Poletti, 2020, Journal of neurochemistry.

Nicotinamide in Friedreich's ataxia: useful or not?

K. Fischbeck, D. Lynch, 2014, The Lancet.

Transient central nervous system white matter abnormality in X‐linked Charcot‐Marie‐Tooth disease

K. Fischbeck, R. Lenkinski, H. Paulson, 2002, Annals of neurology.

Hereditary retinal vasculopathy with cerebral white matter lesions.

K. Fischbeck, R. Sergott, D. Gutmann, 1989, American journal of medical genetics.

SMN mRNA and protein levels in peripheral blood

K. Fischbeck, R. Finkel, G. Dreyfuss, 2006, Neurology.

Regulation of SMN Protein Stability

K. Fischbeck, Barrington G. Burnett, Deborah Y. Kwon, 2008, Molecular and Cellular Biology.

Segmental spinal muscular atrophy and dermatological findings in a patient with chromosome 18q deletion

E. Zackai, K. Fischbeck, B. Emanuel, 1991, Annals of neurology.

Carrier testing for spinal muscular atrophy

K. Fischbeck, T. Crawford, S. Terry, 2010, Genetics in Medicine.

A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss

K. Fischbeck, C. Blackstone, G. Landouré, 2017, Annals of clinical and translational neurology.

Ataxin 1 and ataxin 3 in neuronal intranuclear inclusion disease

K. Fischbeck, J. Trojanowski, T. Bird, 1999 .

A novel mutation in the GARS gene in a Malian family with Charcot‐Marie‐Tooth disease

K. Fischbeck, G. Landouré, O. Samassékou, 2019, Molecular genetics & genomic medicine.

Freeze-fracture studies of muscle caveolae in human muscular dystrophy.

K. Fischbeck, E. Bonilla, D. Schotland, 1981, The American journal of pathology.

Charcot-Marie-Tooth disease type 1A, 9 November 1992, San Francisco, CA, U.S.A.

K. Fischbeck, 1993, Neuromuscular Disorders.

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

K. Fischbeck, J. Taylor, F. Piccioni, 2003, Human molecular genetics.

Decrease in androgen binding and effect of androgen treatment in a case of X-linked bulbospinal neuronopathy

K. Fischbeck, A. Danek, A. Spada, 1994, The clinical investigator.

Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency

K. Fischbeck, D. Bakar, C. Tifft, 2015, Journal of Neurology.

Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations

K. Fischbeck, E. Hoffman, A. Gropman, 2001, Annals of neurology.

Familial X‐linked myalgia and cramps

K. Fischbeck, S. Gospe, M. Scott, 1989, Neurology.

Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy.

R. Waterston, K. Fischbeck, L. Kunkel, 1988, The New England journal of medicine.

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*

K. Fischbeck, P. Wingfield, J. Kaufman, 2014, The Journal of Biological Chemistry.

Clinical experience with high-dose idebenone in Friedreich ataxia

K. Fischbeck, J. Schulz, N. A. Prospero, 2009, Journal of Neurology.

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

K. Fischbeck, B. Ravina, J. Taylor, 2007, Archives of neurology.

Distal spinal and bulbar muscular atrophy caused by dynactin mutation

K. Fischbeck, A. Vortmeyer, R. Powers, 2005, Annals of neurology.

Molecular analysis of the Duchenne muscular dystrophy region using pulsed field gel electrophoresis

K. Fischbeck, K. Davies, S. Kenwrick, 1987, Cell.

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

K. Fischbeck, R. Gainetdinov, F. Sambataro, 2016, Science Translational Medicine.

Overexpression of IGF-1 in Muscle Attenuates Disease in a Mouse Model of Spinal and Bulbar Muscular Atrophy

K. Fischbeck, A. Musarò, G. Sobue, 2009, Neuron.

A gene for autosomal dominant juvenile amyotrophic lateral sclerosis (ALS4 ) localizes to a 500-kb interval on chromosome 9q34

K. Fischbeck, I. Blair, J. Griffin, 2000, Neurogenetics.

Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia.

Janel O. Johnson, K. Fischbeck, C. Blackstone, 2015, JAMA neurology.

A genetic linkage map of five marker loci in and around the Duchenne muscular dystrophy locus.

K. Fischbeck, C. Caskey, C. Boehm, 1989, Genomics.

Hereditary motor and sensory neuropathy, X‐linked

M. Pericak-Vance, K. Fischbeck, J. Stajich, 1987, Neurology.

Localisation of Xp2l meiotic exchange points in Duchenne muscular dystrophy families

A. Monaco, C. Bertelson, K. Fischbeck, 2022 .

Spinocerebellar ataxia type-1 and spinobulbar muscular atrophy gene products interact with glyceraldehyde-3-phosphate dehydrogenase.

K. Fischbeck, H. Zoghbi, H. Orr, 1996, Human molecular genetics.

Mifepristone-inducible transgene expression in neural progenitor cells in vitro and in vivo

K. Fischbeck, T. Pierson, B. Shelley, 2016, Gene Therapy.

Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice

K. Fischbeck, E. Wilson, D. Merry, 1995, Nature Genetics.

Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activity

K. Fischbeck, Jesse Dabney, A. Khvorova, 2021, Science Advances.

Duchenne muscular dystrophy gene expression in normal and diseased human muscle.

K. Fischbeck, H. Stedman, M. Scott, 1988, Science.

The Androgen Receptor and Spinal and Bulbar Muscular Atrophy

K. Fischbeck, F. Piccioni, C. Sumner, 2005 .

RECOMBINATION WITH PERT87 (DXS164) IN FAMILIES WITH X-LINKED MUSCULAR DYSTROPHY

M. Pericak-Vance, C. Bertelson, K. Fischbeck, 1986, The Lancet.

Trinucleotide repeats in neurogenetic disorders.

K. Fischbeck, H. Paulson, 1996, Annual review of neuroscience.

Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation.

K. Fischbeck, M. Koenig, A. Gansmuller, 2000, Human molecular genetics.

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

K. Fischbeck, Jessica E. Young, M. Pennuto, 2007, Human molecular genetics.

Therapeutics development for triplet repeat expansion diseases

K. Fischbeck, N. D. Prospero, Kenneth H. Fischbeck, 2005, Nature Reviews Genetics.

Androgen receptor YAC transgenic mice carrying CAG 45 alleles show trinucleotide repeat instability.

B. Trask, K. Fischbeck, A. Spada, 1998, Human molecular genetics.

Intranuclear Inclusions of Expanded Polyglutamine Protein in Spinocerebellar Ataxia Type 3

K. Fischbeck, J. Trojanowski, H. Paulson, 1997, Neuron.

Paternal transmission of congenital myotonic dystrophy.

E. Zackai, K. Fischbeck, D. McDonald-McGinn, 1994, Journal of medical genetics.

A Clinical Service to Support the Return of Secondary Genomic Findings in Human Research.

Sara Chandros Hull, David Goldman, Leslie G Biesecker, 2016, American journal of human genetics.

Neurological manifestations of accidental hypothermia

K. Fischbeck, R. Simon, 1981, Annals of neurology.

Kennedy disease

K. Fischbeck, 1997, Journal of Inherited Metabolic Disease.

Charcot-Marie-Tooth–Linked Mutant GARS Is Toxic to Peripheral Neurons Independent of Wild-Type GARS Levels

K. Fischbeck, E. Green, R. Burgess, 2011, PLoS genetics.

New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease

K. Fischbeck, M. Lensch, P. Chance, 1995, Neurology.

Null mutations of connexin32 in patients with X-linked Charcot-Marie-Tooth disease

K. Fischbeck, R. Bruzzone, D. Paul, 1994, Neuron.

Linkage localization of X-linked Charcot-Marie-Tooth disease.

J. Haines, M. Pericak-Vance, K. Fischbeck, 1993, American journal of human genetics.

A high-throughput genome-wide RNAi screen identifies modifiers of survival motor neuron protein

Eugen C. Buehler, K. Fischbeck, Barrington G. Burnett, 2021, Cell reports.

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

K. Fischbeck, A. Hart, Barrington G. Burnett, 2013, Molecular biology of the cell.

Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy.

K. Fischbeck, L. Pellizzoni, Barrington G. Burnett, 2007, The Journal of clinical investigation.

44 – Spinal Muscular Atrophy

K. Fischbeck, C. Sumner, 2007 .

The role of histone acetylation in SMN gene expression.

K. Fischbeck, C. Sumner, Thanh N. Huynh, 2005, Human molecular genetics.

Spinal muscular atrophy in the neonate.

K. Fischbeck, J. Markowitz, M. Tinkle, 2004, Journal of obstetric, gynecologic, and neonatal nursing : JOGNN.

Valproic acid increases SMN levels in spinal muscular atrophy patient cells

K. Fischbeck, B. Hill, J. Taylor, 2003, Annals of neurology.

A Loss‐of‐Function Variant in the Human Histidyl‐tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo

J. Lupski, K. Fischbeck, S. Züchner, 2013, Human mutation.

Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy

Janel O. Johnson, K. Fischbeck, P. Striano, 2021, Brain communications.

Biallelic and de novo variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy

Janel O. Johnson, K. Fischbeck, P. Striano, 2021, medRxiv.

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

K. Fischbeck, M. Main, F. Muntoni, 2015, Neuromuscular Disorders.

Connexin32 and X-linked Charcot-Marie-Tooth Disease

K. Fischbeck, S. Scherer, L. Bone, 1996 .

Mutant dynactin in motor neuron disease

Shin J. Oh, Christy L. Ludlow, Mary Kay Floeter, 2003, Nature Genetics.

The role of the gap junction protein connexin32 in the pathogenesis of X-linked Charcot-Marie-Tooth disease.

K. Fischbeck, R. Balice-Gordon, S. Scherer, 1999, Novartis Foundation symposium.

A locus for axonal motor-sensory neuropathy with deafness and mental retardation maps to Xq24-q26.

K. Fischbeck, B. Keats, N. Nouri, 1994, Genomics.

Triplet repeat expansion in neuromuscular disease

K. Fischbeck, A. Lieberman, 2000, Muscle & nerve.

Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission.

S. Pulst, K. Fischbeck, S. Perlman, 1998, Human molecular genetics.

Founder effect in spinal and bulbar muscular atrophy (SBMA).

K. Fischbeck, Y. Itoyama, G. Sobue, 1996, Human molecular genetics.

Facioscapulohumeral muscular dystrophy defect identified

K. Fischbeck, J. Garbern, Kenneth H. Fischbeck, 1992, Nature genetics.

B2 attenuates polyglutamine‐expanded androgen receptor toxicity in cell and fly models of spinal and bulbar muscular atrophy

K. Fischbeck, J. Taylor, M. Pennuto, 2010, Journal of neuroscience research.

CAG repeat length variation in sperm from a patient with Kennedy's disease.

K. Fischbeck, N. Arnheim, L. Zhang, 1995, Human molecular genetics.

Trinucleotide repeat expansion in neurological disease

K. Fischbeck, H. Paulson, A. L. La Spada, 1994, Annals of neurology.

Machado‐Joseph disease gene product is a cytoplasmic protein widely expressed in brain

K. Fischbeck, H. Paulson, P. Crino, 1997, Annals of neurology.

Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies.

K. Fischbeck, C. Shaw, C. Ludlow, 2010, Brain : a journal of neurology.

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

K. Fischbeck, J. Taylor, A. Taye, 2003, Genes & development.

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

K. Fischbeck, J. Taylor, J. Taylor, 2002, Trends in molecular medicine.

Polyglutamine and CBP: Fatal attraction?

K. Fischbeck, A. McCampbell, 2001, Nature Medicine.

Molecular biology of duchenne and Becker's muscular dystrophy: Clinical applications

K. Fischbeck, D. Gutmann, Kenneth H. Fischbeck, 1989, Annals of neurology.

Oculodentodigital dysplasia syndrome associated with abnormal cerebral white matter.

E. Zackai, K. Fischbeck, D. Gutmann, 1991, American journal of medical genetics.

Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12

Janel O. Johnson, K. Fischbeck, C. Blackstone, 2013, Human mutation.

X linked Charcot-Marie-Tooth disease (CMTX1): a study of 15 families with 12 highly informative polymorphisms.

A. Monaco, K. Fischbeck, S. Cochrane, 1994, Journal of medical genetics.

Hereditary spastic paraplegia in Mali: epidemiological and clinical features

K. Fischbeck, G. Landouré, M. Traore, 2022, Acta Neurologica Belgica.

A novel variant in the spatacsin gene causing SPG11 in a Malian family

K. Fischbeck, G. Landouré, O. Samassékou, 2020, Journal of the Neurological Sciences.

Hereditary spastic paraplegia type 35 in a family from Mali

K. Fischbeck, G. Landouré, O. Samassékou, 2019, American journal of medical genetics. Part A.

Genetics and genomic medicine in Mali: challenges and future perspectives

K. Fischbeck, Barrington G. Burnett, C. Sumner, 2016, Molecular genetics & genomic medicine.

A candidate gene for autoimmune myasthenia gravis

Janel O. Johnson, D. Hernandez, K. Fischbeck, 2012, Neurology.

Histone deacetylase inhibitors reduce polyglutamine toxicity

K. Fischbeck, A. McCampbell, A. Taye, 2001, Proceedings of the National Academy of Sciences of the United States of America.

Polyglutamine expansion neurodegenerative disease

K. Fischbeck, 2001, Brain Research Bulletin.

Androgen receptor mutation in Kennedy's disease.

K. Fischbeck, A. Lieberman, A. Abel, 1999, Philosophical transactions of the Royal Society of London. Series B, Biological sciences.

Insulinlike Growth Factor (IGF)-1 Administration Ameliorates Disease Manifestations in a Mouse Model of Spinal and Bulbar Muscular Atrophy

K. Fischbeck, G. Sobue, M. Pennuto, 2012, Molecular medicine.

Skeletal muscle water T2 as a biomarker of disease status and exercise effects in patients with Duchenne muscular dystrophy

K. Fischbeck, T. Bulea, H. Reyngoudt, 2017, Neuromuscular Disorders.

The difference between Duchenne and Becker dystrophies

K. Fischbeck, 1989, Neurology.

Freeze‐fracture analysis of plasma membrane cholesterol in duchenne muscle

K. Fischbeck, E. Bonilla, Donald L. Schotland, 1983, Annals of neurology.

Detection of truncated dystrophin in fetal DMD myotubes.

K. Fischbeck, A. Moorman, J. D. den Dunnen, 1990, Advances in experimental medicine and biology.

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

K. Fischbeck, J. Olson, A. Strand, 2002, Human molecular genetics.

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

K. Fischbeck, G. Sobue, Barrington G. Burnett, 2016, Molecular therapy : the journal of the American Society of Gene Therapy.

Mitochondrial abnormalities in spinal and bulbar muscular atrophy

K. Fischbeck, M. Pennuto, Barrington G. Burnett, 2008, Human molecular genetics.

Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations.

K. Fischbeck, T. Crawford, K. Ohno, 1997, Human molecular genetics.

Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.

K. Fischbeck, E. Green, M. Dalakas, 2005, Brain : a journal of neurology.

Cleavage, aggregation and toxicity of the expanded androgen receptor in spinal and bulbar muscular atrophy.

K. Fischbeck, A. Taye, D. Merry, 1998, Human molecular genetics.

X‐linked neuropathy: Gene localization with DNA probes

M. Pericak-Vance, K. Fischbeck, A. Roses, 1986, Annals of neurology.

Exercise Intervention Leads to Functional Improvement in a Patient with Spinal and Bulbar Muscular Atrophy

K. Fischbeck, C. Grunseich, J. Shrader, 2020, Journal of rehabilitation medicine. Clinical communications.

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

C. Zampieri, K. Fischbeck, C. Grunseich, 2015, Annals of clinical and translational neurology.

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

K. Fischbeck, G. Sobue, M. Katsuno, 2015, Neuromuscular Disorders.

Systemic Delivery of MicroRNA Using Recombinant Adeno-associated Virus Serotype 9 to Treat Neuromuscular Diseases in Rodents

K. Fischbeck, Philip R. Lee, Laura C. Bott, 2018, Journal of visualized experiments : JoVE.

Assessing Function and Endurance in Adults with Spinal and Bulbar Muscular Atrophy: Validity of the Adult Myopathy Assessment Tool

K. Fischbeck, L. Fernández-Rhodes, T. Davenport, 2014, Rehabilitation research and practice.

Spinal and Bulbar Muscular Atrophy.

K. Fischbeck, C. Grunseich, 2015, Neurologic clinics.

Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases

K. Fischbeck, T. Crawford, P. Calabresi, 2021, Journal of Neurology, Neurosurgery, and Psychiatry.

Precision of reinnervation of original postsynaptic sites in frog muscle after a nerve crush

K. Fischbeck, U. J. McMahan, M. Letinsky, 1976, Journal of neurocytology.

Characterization of an Expanded Glutamine Repeat Androgen Receptor in a Neuronal Cell Culture System

K. Fischbeck, H. Paulson, E. Wilson, 1997, Neurobiology of Disease.

Upper arm and cardiac magnetic resonance imaging in Duchenne muscular dystrophy

K. Fischbeck, A. Arai, W. Bandettini, 2016, Annals of clinical and translational neurology.

Therapeutic Prospects for Polyglutamine Disease

K. Fischbeck, M. Pennuto, 2010 .

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

K. Fischbeck, N. Jeffries, T. Lehky, 2011, The Lancet Neurology.

Spinal muscular atrophy.

K. Fischbeck, Eveline S. Arnold, 2018, Handbook of clinical neurology.

A small-molecule Nrf1 and Nrf2 activator mitigates polyglutamine toxicity in spinal and bulbar muscular atrophy.

K. Fischbeck, G. Sobue, Nisha M. Badders, 2016, Human molecular genetics.

Mining the genome for causes and cures of neurological disease.

K. Fischbeck, A. Lieberman, I. Puls, 2001, Trends in pharmacological sciences.

Maybe too much of a good thing in gene therapy

K. Fischbeck, R. Finkel, 2021, Nature Neuroscience.

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

K. Fischbeck, N. Jeffries, T. Lehky, 2011, The Lancet Neurology.

Expression of expanded polyglutamine targets profilin for degradation and alters actin dynamics

K. Fischbeck, Barrington G. Burnett, N. D. Prospero, 2008, Neurobiology of Disease.

Polyglutamine-containing aggregates in neuronal intranuclear inclusion disease

John Q Trojanowski, Dennis W Dickson, K. Fischbeck, 1998, The Lancet.

Nuclear inclusions of the androgen receptor protein in spinal and bulbar muscular atrophy

Fumiaki Tanaka, Gen Sobue, Masahiko Yamamoto, 1998, Annals of neurology.

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

K. Fischbeck, R. Newbould, A. Mankodi, 2016, Neuromuscular Disorders.

Freeze-fracture analysis of plasma membrane cholesterol in fast- and slow-twitch muscles.

K. Fischbeck, E. Bonilla, D. Schotland, 1982, Journal of ultrastructure research.

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

K. Fischbeck, Laura C. Bott, S. Belikov, 2015, Biochemistry and biophysics reports.

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

D. Hernandez, A. Singleton, K. Fischbeck, 2008, Human molecular genetics.

Respiratory magnetic resonance imaging biomarkers in Duchenne muscular dystrophy

K. Fischbeck, A. Arai, Jianhua Yao, 2017, Annals of clinical and translational neurology.

Freeze-fracture characterization of 'young' and 'old' human erythrocytes.

K. Fischbeck, E. Bonilla, D. Schotland, 1982, Biochimica et biophysica acta.

Altered Trafficking of Mutant Connexin32

K. Fischbeck, S. Scherer, J. Walcott, 1997, The Journal of Neuroscience.

Clinical and genetic analysis of spinocerebellar ataxia in Mali

K. Fischbeck, F. Mochel, G. Landouré, 2011, European journal of neurology.

Is CMTX an axonopathy?

K. Fischbeck, S. Scherer, 1999, Neurology.

Nonneural nuclear inclusions of androgen receptor protein in spinal and bulbar muscular atrophy.

K. Fischbeck, G. Sobue, Yasushi Kobayashi, 1998, The American journal of pathology.

Biomedicine - Toxic proteins in neurodegenerative disease

K. Fischbeck, J. Hardy, Jp Taylor, 2002 .

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

K. Fischbeck, Laura C. Bott, Guibin Chen, 2014, Neurobiology of Disease.

Developing treatment for spinal and bulbar muscular atrophy

K. Fischbeck, 2012, Progress in Neurobiology.

A small-molecule Nrf 1 and Nrf 2 activator mitigates polyglutamine toxicity in spinal and bulbar muscular atrophy

K. Fischbeck, G. Sobue, Nisha M. Badders, 2016 .

Spinal and bulbar muscular atrophy: pathogenesis and clinical management.

K. Fischbeck, C. Grunseich, C. Rinaldi, 2014, Oral diseases.

Polyglutamine-Expanded Androgen Receptor Truncation Fragments Activate a Bax-Dependent Apoptotic Cascade Mediated by DP5/Hrk

K. Fischbeck, L. Ellerby, Jessica E. Young, 2009, The Journal of Neuroscience.

Increased serum transferrin receptor concentrations in Friedreich ataxia

K. Fischbeck, Robert B. Wilson, D. Lynch, 2000, Annals of neurology.

Normal serum iron and ferritin concentrations in patients with Friedreich's ataxia

K. Fischbeck, Robert B. Wilson, D. Lynch, 1998, Annals of neurology.

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

K. Fischbeck, B. Minton, A. Ludolph, 2018, The Lancet Neurology.

Nonalcoholic fatty liver disease in spinal and bulbar muscular atrophy

K. Fischbeck, D. Bakar, S. Hewitt, 2017, Neurology.

Clinical features of spinal and bulbar muscular atrophy

K. Fischbeck, T. Lehky, M. Harris-Love, 2009, Brain : a journal of neurology.

Neurogenic and Myogenic Contributions to Hereditary Motor Neuron Disease

K. Fischbeck, Barrington G. Burnett, Katherine V. Bricceno, 2012, Neurodegenerative Diseases.

Spinal and Bulbar Muscular Atrophy Overview

K. Fischbeck, 2016, Journal of Molecular Neuroscience.

Nucleocytoplasmic transport defect in a North American patient with ALS8

K. Fischbeck, C. Grunseich, Yuebing Li, 2018, Annals of clinical and translational neurology.

Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease

K. Fischbeck, A. Vortmeyer, F. Mochel, 2009, neurogenetics.

Therapeutics Development for Hereditary Neurological Diseases

K. Fischbeck, J. Heemskerk, 2005 .

Studies in transgenic mice indicate a loss of connexin32 function in X-linked Charcot-Marie-Tooth disease.

K. Fischbeck, S. Scherer, A. Messing, 1999, Journal of neuropathology and experimental neurology.

Disease mechanism, biomarker and therapeutics for spinal and bulbar muscular atrophy (SBMA)

K. Fischbeck, M. Pennuto, M. Katsuno, 2020, Journal of Neurology, Neurosurgery, and Psychiatry.

X‐linked spinomuscular atrophy

C. L. Warner, K. Fischbeck, R. Griggs, 1992, Neurology.

Clinical features of spinal and bulbar muscular

K. Fischbeck, T. Lehky, J. Shrader, 2009 .

A Cell Culture Model for Androgen Effects in Motor Neurons

K. Fischbeck, H. Paulson, D. Kolson, 1998, Journal of neurochemistry.

Spinal and bulbar muscular atrophy: a trinucleotide-repeat expansion neurodegenerative disease

Brian P. Brooks, K. Fischbeck, B. Brooks, 1995, Trends in Neurosciences.

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

K. Fischbeck, C. Grunseich, 2020, Current opinion in neurology.

A new mitochondrial DNA mutation (A3288G) in the tRNALeu(UUR) gene associated with familial myopathy

S. Dimauro, K. Fischbeck, G. Hadjigeorgiou, 1999, Journal of the Neurological Sciences.

Autosomal recessive duchenne like muscular dystrophy: Molecular and histochemical results

K. Fischbeck, Kenneth H. Fischbeck, S. McGuire, 1991, Muscle & nerve.

Standard and modified statistical mune evaluations in spinal‐bulbar muscular atrophy

K. Fischbeck, M. Floeter, T. Lehky, 2009, Muscle & nerve.

The polyglutamine-expanded androgen receptor responsible for spinal and bulbar muscular atrophy inhibits the APC/CCdh1 ubiquitin ligase complex

K. Fischbeck, D. Merry, N. Dantuma, 2016, Scientific Reports.

Chapter 17 Kennedy's Disease

K. Fischbeck, C. Sumner, 2003 .

Dynamic Balance in Spinal and Bulbar Muscular Atrophy: Relationship between Strength and Performance of Forward Lunge, Step Up and Over, and Step Quick Turn

C. Zampieri, K. Fischbeck, C. Grunseich, 2021, Rehabilitation research and practice.

Sexual Reassignment Fails to Prevent Kennedy's Disease.

K. Fischbeck, D. Bakar, Nisha M. Badders, 2016, Journal of neuromuscular diseases.

Linking epigenetic dysregulation, mitochondrial impairment, and metabolic dysfunction in SBMA motor neurons.

K. Fischbeck, C. Grunseich, Kory R. Johnson, 2020, JCI insight.

Jaw drop in Kennedy’s disease

K. Fischbeck, C. Sumner, 2002, Neurology.

Patient‐identified impact of symptoms in spinal and bulbar muscular atrophy

K. Fischbeck, C. Heatwole, C. Grunseich, 2017, Muscle & nerve.

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

C. Zampieri, K. Fischbeck, C. Grunseich, 2015, Annals of clinical and translational neurology.

Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration.

J. J. Shepherd, D. Sillence, L. Mestroni, 1994, Journal of medical genetics.

The peripheral myelin protein gene PMP–22 is contained within the Charcot–Marie–Tooth disease type 1A duplication

P. De Jonghe, K. Fischbeck, B. Cullen, 1992, Nature Genetics.

Connexin mutations in X-linked Charcot-Marie-Tooth disease.

K. Fischbeck, D. Paul, S. Scherer, 1993, Science.

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

K. Fischbeck, V. Cheung, C. Grunseich, 2020, Annals of Neurology.

Therapeutic approaches to spinal and bulbar muscular atrophy.

K. Fischbeck, S. Ranganathan, 2010, Trends in pharmacological sciences.

Clinical features of spinal and bulbar muscular atrophy

K. Fischbeck, T. Lehky, M. Harris-Love, 2009, Brain : a journal of neurology.

Neurological eff ects of high-dose idebenone in patients with Friedreich ’ s ataxia : a randomised , placebo-controlled trial

K. Fischbeck, N. D. Prospero, A. Baker, 2007 .

A role for androgen reduction treatment in kennedy disease?

K. Fischbeck, 2013, Muscle & nerve.

Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2.

M. Pericak-Vance, K. Fischbeck, A. Roses, 1991, Genomics.

Somatic stability of the expanded CAG trinucleotide repeat in X‐linked spinal and bulbar muscular atrophy

K. Fischbeck, A. L. La Spada, W. Kress, 1996, Human mutation.

Dominant GDAP1 mutations cause predominantly mild CMT phenotypes

K. Fischbeck, U. Suter, J. Pilch, 2011, Neurology.

Muscle Matters in Kennedy’s Disease

K. Fischbeck, Laura C. Bott, C. Rinaldi, 2014, Neuron.

Filaments in Myofibrillar Myopathy Cause Disruption of Skeletal Muscle Actin Mutations in the Actin-binding Domain PDZ Motif-containing Protein ( ZASP ) Z-disc-associated , Alternatively Spliced , Molecular Bases of Disease :

K. Fischbeck, P. Wingfield, J. Kaufman, 2014 .

Insulinlike Growth Factor (IGF)-1 Administration Ameliorates Disease Manifestations in a Mouse Model of Spinal and Bulbar Muscular Atrophy

K. Fischbeck, G. Sobue, M. Pennuto, 2012, Molecular medicine.

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

Joshua T. Burdick, K. Fischbeck, V. Cheung, 2018, Molecular cell.

Effects of ATP depletion and protein synthesis inhibition on muscle plasma membrane orthogonal arrays

K. Fischbeck, 1984, Experimental Neurology.

Dominant GDAP1 mutations cause predominantly mild CMT phenotypes

K. Fischbeck, U. Suter, J. Pilch, 2011, Neurology.

A Loss‐of‐Function Variant in the Human Histidyl‐tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo

J. Lupski, K. Fischbeck, S. Züchner, 2013, Human mutation.

Oligonucleotide Treatment for Huntington's Disease.

K. Fischbeck, N. Wexler, 2019, The New England journal of medicine.

Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family

Janel O. Johnson, K. Fischbeck, B. Traynor, 2012, Neurology.

Corrigendum: Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice

K. Fischbeck, E. Wilson, D. Merry, 1995, Nature Genetics.

Clinical and Genetic Aspects of Huntington's Disease in the Malian Population.

K. Fischbeck, G. Landouré, Y. Maiga, 2022, Journal of Huntington's disease.

Velocardiofacial Syndrome

K. Fischbeck, D. Driscoll, D. McDonald-McGinn, 2021, Encyclopedia of Autism Spectrum Disorders.

Sneeze-induced hemiparesis from unruptured intracranial aneurysm.

K. Fischbeck, W. Bank, Bradley Wg, 1982, Journal of neuroradiology. Journal de neuroradiologie.

GARS axonopathy: not every neuron's cup of tRNA

K. Fischbeck, K. Talbot, W. Motley, 2010, Trends in Neurosciences.