Skip to main content
COVID-19 is an emerging, rapidly evolving situation.

Get the latest public health information from CDC:
Get the latest research information from NIH:

Profile Image

NIH Distinguished Investigator

Kenneth H. Fischbeck, M.D.

Neurogenetics Branch

Neurogenetics Branch
Building 35 Room 2A-1000
35 Convent Dr
Bethesda MD 20892-3705
Office: (301) 435-9318
Lab: (301) 402-5423
Fax: (301) 480-3365

Dr. Fischbeck received A.B. and A.M. degrees from Harvard University and an M.D. degree from Johns Hopkins. After a medical internship at Case Western Reserve University and a neurology residency at the University of California in San Francisco, he did postdoctoral research on muscular dystrophy at the University of Pennsylvania. In 1982 he joined the faculty in the Neurology Department at the University of Pennsylvania Medical School. In 1998 he came to the NINDS as Chief of the Neurogenetics Branch. He received the Cotzias Award from the American Academy of Neurology and the Jacoby Award from the American Neurological Association, and he was elected to the National Academy of Medicine. His research group is identifying the causes and studying the mechanisms of hereditary neurological and neuromuscular diseases with the goal of developing effective treatment for these disorders.

The purpose of the Neurogenetics Branch is to investigate the causes of hereditary neurological diseases, with the goal of developing effective treatments for these disorders. Particular areas of research interest in the Fischbeck lab include the polyglutamine expansion diseases (Huntington's disease, Kennedy's disease, and spinocerebellar ataxia), spinal muscular atrophy, Charcot-Marie-Tooth disease, muscular dystrophy, hereditary motor neuron disease, and Friedreich's ataxia. A genetic outreach program is intended to identify and characterize patients and families with hereditary neurological diseases. The disease mechanisms are studied and potential treatments are evaluated in cell culture and other model systems. Clinical trials have been done for Duchenne muscular dystrophy, Friedreich's ataxia, and Kennedy's disease. Efforts are also currently underway to develop new treatments for spinal muscular atrophy.

Clinical Protocols

  • Clinical and molecular manifestations of inherited neurologic disorders 00-N-0043

  • Evaluation of hepatic function in patients with spinal and bulbar muscular atrophy 14-N-0099

Staff Image
  • Salimata Diarra, M.D.
    Visiting Fellow

  • Christopher Grunseich, M.D.
    Staff Clinician

  • George Harmison, B.S., M.S.

  • Elizabeth Hartnett, M.S.W
    Patient Care Coordinator

  • Angela Kokkinis, R.N.
    Research Nurse

  • Shreya Nandi, B.A.
    Post baccalaureate Student

  • Naemeh Pourshafie, B.S., M.S.
    Graduate Student

  • Ryan Prestil, B.A.
    Graduate Student

  • Alice Schindler, M.S.
    Genetic Counselor

  • Rebecca Silverman, A.A.
    Office Manager

  • Audrey Winkelsas, B.S.
    Graduate Student

  • 1) Grunseich C, Patankar A, Amaya J, Watts JA, Li D, Ramirez P, Schindler AB, Fischbeck KH, Cheung VG (2020)
  • Clinical and Molecular aspects of senataxin mutations in amyotrophic lateral sclerosis 4
  • Ann Neurol, 87, 547–555
  • 2) Fischbeck KH, Wexler NS (2019)
  • Oligonucleotide treatment for Huntington’s disease
  • N Engl J Med, 380, 2373-2374
  • 3) Grunseich C, Wang IX, Watts JA, Burdick JT, Guber RD, Zhu Z, Bruzel A, Lanman T, Chen K, Schindler AB, Edwards N, Ray-Chaudray A, Yao J, Lehky T, Piszczek G, Crain B, Fischbeck KH, Cheung VG (2018)
  • Senataxin mutation reveals how R-loops promote transcription by blocking DNA methylation at gene promoters
  • Mol Cell, 69, 426-437
  • 4) Guber RD, Kokkinis AD, Schindler AB, Bendixen RM, Heatwole CR, Fischbeck KH, Grunseich C (2018)
  • Patient-identified impact of symptoms in spinal and bulbar muscular atrophy
  • Muscle Nerve, 57, 40-44
  • 5) Guber RD, Schindler AB, Budron MS, Chen K, Li Y, Fischbeck KH, Grunseich C (2018)
  • Nucleocytoplasmic transport defect in a North American patient with ALS8
  • Ann Clin Transl Neurol, 5, 369-375
  • 6) Grunseich C, Miller R, Swan T, Glass DJ, El Mouelhi M, Fornaro M, Petricoul O, Vostiar I, Roubenoff R, Meriggioli MN, Kokkinis A, Guber RD, Budron MS, Vissing J, Soraru G, Mozaffar T, Ludolph A, Kissel JT, Fischbeck KH (2018)
  • Safety, tolerability, and preliminary efficacy of an IGF-1 mimetic in patients with spinal and bulbar muscular atrophy: a randomised, placebo-controlled trial
  • Lancet Neurol , 17, 1043-1052
  • 7) Guber RD, Takyar V, Kokkinis A, Fox DA, Alao H, Kats I, Bakar D, Remaley AT, Hewitt SM, Kleiner DE, Liu CY, Hadigan C, Fischbeck KH, Rotman Y, Grunseich C (2017)
  • Nonalcoholic fatty liver disease in spinal and bulbar muscular atrophy
  • Neurology, 89, 2481-2490
  • 8) Martin JE, Nguyen TT, Grunseich C, Nofziger JH, Lee PR, Fields D, Fischbeck KH, Foran E (2017)
  • Decreased motor neuron support by SMA astrocytes due to diminished MCP1 secretion
  • J Neurosci, 37, 5309-5318
  • 9) Guinto CO, Diarra S, Diallo S, Cissé L, Coulibaly T, Diallo SH, Taméga A, Chen KL, Schindler AB, Bagayoko K, Simaga A, Blackstone C, Fischbeck KH, Landouré G (2017)
  • A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss
  • Ann Clin Transl Neurol, 4, 272-275
  • 10) Gaur L, Hanna A, Bandettini WP, Fischbeck KH, Arai AE, Mankodi A. (2016)
  • Upper arm and cardiac magnetic resonance imaging in Duchenne muscular dystrophy.
  • Ann Clin Transl Neurol, 19, 948-955
  • 11) Pourshafie N, Lee PR, Chen K, Harmison GH, Bott LC, Burnett BG, Fischbeck KH, Rinaldi C (2016)
  • MiR-298 counteracts mutant androgen receptor toxicity in spinal and bulbar muscular atrophy
  • Mol Ther, 24, 937-945
  • 12) Bott LC, Badders NM, Chen KL, Harmison GG, Bautista E, Shih CCY, Katsuno M, Sobue G, Taylor JP, Dantuma NP, Fischbeck KH, Rinaldi C (2016)
  • A small-molecule Nrf1 and Nrf2 activator mitigates polyglutamine toxicity in spinal and bulbar muscular atrophy
  • Hum Mol Genet, 25, 1979-1989
  • 13) Fischbeck KH (2016)
  • Spinal and bulbar muscular atrophy overview
  • J Mol Neurosci, 58, 317-320
  • 14) Lanman TA, Bakar D, Badders NM, Burke A, Kokkinis A, Shrader JA, Joe GO, Schindler AB, Bott LC, Harmison GG, Taylor JP, Fischbeck KH, Grunseich C (2016)
  • Sexual reassignment fails to prevent Kennedy disease
  • J Neuromuscul Dis, 3, 121-125
  • 15) Foran E, Kwon DY, Nofziger JH, Arnold ES, Hall MD, Fischbeck KH, Burnett BG (2016)
  • CNS uptake of bortezomib is enhanced by P-glycoprotein inhibition: implications for spinal muscular atrophy
  • Neurobiol Dis, 88, 118-124
  • 16) Abera MB, Xiao J, Nofziger J, Titus S, Southall N, Zheng W, Moritz KE, Ferrer M, Cherry JJ, Androphy EJ, Wang A, Xu X, Austin C, Fischbeck KH, Marugan JJ, Burnett BG (2016)
  • ML372 blocks SMN ubiquitination and improves spinal muscular atrophy pathology in mice
  • JCI Insight, 1, e88427
  • 17) Mankodi A, Bishop CA, Auh S, Newbould RD, Fischbeck KH, Janiczek RL (2016)
  • Quantifying disease activity in fatty-infiltrated skeletal muscle by IDEAL-CPMG in Duchenne muscular dystrophy
  • Neuromuscul Disord, 26, 650-658
  • 18) Grunseich C, Schindler AB, Chen KL, Bakar D, Mankodi A, Traslavina R, Ray-Chaudhary A, Lehky TJ, Baker EH, Maragakis NJ, Tiff CJ, Fischbeck KH (2015)
  • Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency.
  • J Neurol, 262, 1066-1068
  • 19) Shrader JA, Kats I, Kokkinis A, Zampieri C, Levy E, Joe GO, Woolstenhulme JG, Drinkard BE, Smith MR, Ching W, Ghosh L, Fox D, Auh S, Schindler AB, Fischbeck KH, Grunseich C (2015)
  • A randomized controlled trial of functional exercise in spinal and bulbar muscular atrophy
  • Ann Clin Transl Neurol, 2, 739-747
  • 20) Rinaldi C, Schmidt T, Situ AJ, Johnson JO, Lee PR, Chen KL, Bott LC, Fadó R, Harmison GH, Parodi S, Grunseich C, Renvoisé B, Biesecker LG, De Michele G, Santorelli FM, Filla A, Stevanin G, Dürr A, Brice A, Casals N, Traynor BJ, Blackstone C, Ulmer TS, Fischbeck KH (2015)
  • Mutation in CPT1C associated with pure autosomal dominant spastic paraplegia
  • JAMA Neurology, 72, 561-570
  • 21) Bricceno KV, Martinez T, Leikina E, Duguez S, Partridge TA, Chernomordik LV, Fischbeck KH, Sumner CJ, Burnett BG (2014)
  • Survival motor neuron protein deficiency impairs myotube formation by altering myogenic gene expression and focal adhesion dynamics
  • Hum Mol Genet , 23, 4745-4757
  • 22) Grunseich C, Zukosky K, Kats IR, Ghosh L, Harmison GG, Bott LC, Rinaldi C, Chen K, Chen G, Boehm M, Fischbeck KH (2014)
  • Stem cell-derived motor neurons from spinal and bulbar muscular atrophy patients
  • Neurobiol Dis, 70, 12-20
  • 23) Sangare M, Hendrickson B, Sango HA, Chen K, Nofziger J, Abdelbasset A, Dutra A, Schinder AB, Guindo A, Traore M, Harmison G, Pak E, Yaro FN, Bricceno K, Grunseich C, Chen G, Boehm M, Zukosky K, Bocoum N, Meilleur KG, Daou F, Bagayogo K, Coulibaly YI, Diakite M, Fay MP, Lee HS, Saad A, Gribaa M, Singleton AB, Maiga Y, Auh S, Landoure G, Fairhurst RM, Burnett BG, Scholl T, Fischbeck KH (2014)
  • Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan Africa
  • Ann Neurol, 75, 525-532
  • 24) Lin X, Ruiz J, Bajraktari I, Ohman R, Banerjee S, Gribble K, Kaufman JD, Wingfield PT, Griggs RC, Fischbeck KH, Mankodi A (2014)
  • ZASP mutations in actin-binding domain cause disruption of skeletal muscle actin filaments in myofibrillar myopathy
  • J Biol Chem, 289, 13615-13626
  • 25) Landoure G, Zhu P-P, Lourenco CM, Johnson JO, Toro C, Bricceno KV, Rinaldi C, Meilleur KG, Sangare M, Diallo O, Pierson TM, Ishiura H, Tsuji S, Hein N, Fink JK, Stoll M, Nicholson G, Gonzalez M, Speziani F, Durr A, Stevanin G, Biesecker LG for the NIH Intramural Sequencing Center, Accardi J, Landis DMD, Gahl WA, Traynor BJ, Marques W Jr, Zuchner S, Blackstone C, Fischbeck KH, Burnett BG (2013)
  • Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12
  • Hum Mutat, 34, 1357-1360
  • 26) Kwon DY, Dimitriadi M, Terzic B, Cable C, Hart AC, Chitnis A, Fischbeck KH, Burnett BG (2013)
  • The E3 ubiquitin ligase mind bomb 1 ubiquitinates and promotes the degradation of survival of motor neuron protein
  • Mol Biol Cell, 24, 1863-1871
  • 27) Fischbeck KH (2012)
  • Developing treatment for spinal and bulbar muscular atrophy
  • Progr Neurobiol, 99, 257-261
  • 28) Rinaldi C, Grunseich C, Sevrioukova IF, Schindler A, Horkayne-Szakaly I, Lamperti C, Landoure G, Kennerson ML, Burnett BG, Biesecker L, Ghezzi D, Zeviani M, Fischbeck KH (2012)
  • Cowchock syndrome is associated with a mutation in apoptosis-inducing factor
  • Am J Hum Genet, 91, 1095-1102
  • 29) Landoure G, Knight MA, Stanescu H, Taye AA, Shi Y, Diallo O, Johnson JO, Hernandez D, Traynor BJ, Biesecker LG, Elkahoun A, Rinaldi C, Vincent A, Willcox N, Kleta R, Fischbeck KH, Burnett BG (2012)
  • A candidate gene for autoimmune myasthenia gravis
  • Neurology, 79, 342-345
  • 30) Bricceno KV, Sampognaro PJ, Van Meerbeke JP, Sumner CJ, Fischbeck KH, Burnett BG (2012)
  • Histone deacetylase inhibition suppresses myogenin-dependent atrogene activation in spinal muscular atrophy mice
  • Hum Mol Genet, 21, 4448-4459
  • 31) Rinaldi C, Bott LC, Chen K, Harmison GG, Pennuto M, Fischbeck KH (2012)
  • IGF-1 administration ameliorates disease manifestations in a mouse model of spinal and bulbar muscular atrophy
  • Mol Med, 18, 1261-1268
  • 32) Bricceno K, Fischbeck K, Burnett B (2012)
  • Neurogenic and myogenic contributions to hereditary motor neuron disease
  • Neurodegener Dis., 9, 199-209
  • 33) Motley WW, Seburn KL, Nawaz MH, Miers KE, Cheng J, Antonellis A, Green ED, Talbot K, Yang XL, Fischbeck KH, Burgess RW (2011)
  • Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild type GARS levels
  • PLoS Genet. , 7, e1002399
  • 34) Fernandez-Rhodes LE, Kokkinis AD, White MJ, Watts CA, Auh S, Jeffries NO, Shrader JA, Lehky TJ, Li L, Ryder JE, Levy EW, Solomon BI, Harris-Love MO, La Pean A, Schindler AB, Chen CJ, Di Prospero NA, Fischbeck KH (2011)
  • Efficacy and safety of dutasteride in patients with spinal and bulbar muscular atrophy: a randomised placebo-controlled trial
  • Lancet Neurol , 10, 140-147
  • 35) Kwon DY, Motley WW, Fischbeck KH, Burnett BG (2011)
  • Increasing expression and decreasing degradation of SMN ameliorate the spinal muscular atrophy phenotype in mice
  • Hum Molec Genet , 20, 3667-3677
  • 36) Ranganathan S, Fischbeck KH (2010)
  • Therapeutic approaches to spinal and bulbar muscular atrophy
  • Trends Pharmacol Sci , 31, 523-527
  • 37) Palazzolo I, Nedelsky NB, Askew CE, Harmison GG, Kasantsev AG, Taylor JP, Fischbeck KH, Pennuto M (2010)
  • B2 attenuates polyglutamine-expanded androgen receptor toxicity in cell and fly models of spinal and bulbar muscular atrophy
  • J Neurosci Res , 88, 2207-2216
  • 38) Meilleur KG, Traore M, Sangare M, Britton A, Landoure G, Coulibaly S, Niare B, Mochel F, La Pean A, Rafferty I, Watts C, Shriner D, Littleton-Kearney MT, Blackstone C, Singleton A, Fischbeck KH (2010)
  • Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19
  • Neurogenetics, 11, 313-318
  • 39) Landoure G, Zdebik AA, Martinez TL, Burnett BG, Stanescu HC, Inada H, Shi Y, Taye AA, Kong L, Munns CH, Choo SS, Phelps CB, Paudel R, Houlden H, Ludlow CL, Caterina MJ, Gaudet R, Kleta R, Fischbeck KH, Sumner CJ (2010)
  • Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C
  • Nature Genet , 42, 170-174
  • 40) Motley WW, Talbot K, Fischbeck KH (2010)
  • GARS axonopathy: not every neuron's cup of tRNA
  • Trends Neurosci , 33, 59-66
  • 41) Ranganathan S, Harmison GG, Meyertholen K, Pennuto M, Burnett BG, Fischbeck KH (2009)
  • Mitochondrial abnormalities in spinal and bulbar muscular atrophy
  • Hum Molec Genet, 18, 27-42
  • 42) Rhodes LE, Freeman BK, Auh S, Kokkinis AD, La Pean A, Chen C, Lehky TJ, Schrader JA, Levy EW, Harris-Love M, Di Prospero NA, Fischbeck KH (2009)
  • Clinical features of spinal and bulbar muscular atrophy
  • Brain, 132, 3242-3251
  • 43) Palazzolo I, Stack C, Kong L, Musaro A, Adachi H, Katsuno M, Sobue G, Taylor JP, Sumner CJ, Fischbeck KH, Pennuto M (2009)
  • Overexpression of IGF-1 in muscle attenuates disease in a mouse model of spinal and bulbar muscular atrophy
  • Neuron, 63, 316-328
  • 44) Traore M, Landoure G, Motley W, Sangare M, Meilleur K, Coulibaly S, Traore S, Niare B, Mochel F, La Pean A, Vortmeyer A, Mani H, Fischbeck KH (2009)
  • Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease
  • Neurogenetics , 10, 319-323
  • 45) Burnett BG, Munoz E, Tandon A, Kwon D, Sumner CJ, Fischbeck KH (2009)
  • Regulation of SMN protein stability
  • Mol Cell Biol, 29, 1107-1115
  • 46) Knight MA, Hernandez D, Diede SJ, Dauwerse HG, Rafferty I, van de Leemput J, Forrest SM, Gardner RJM, Storey E, van Ommen GJ, Tapscott SJ, Fischbeck KH, Singleton AB (2008)
  • A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20
  • Hum Molec Genet, 17, 3847-3853
  • 47) Mochel F, Knight MA, Tong WH, Hernandez D, Ayyad K, Taivassalo T, Andersen PM, Singleton A, Rouault TA, Fischbeck KH, Haller RG (2008)
  • Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance
  • Am J Hum Genet, 82, 652-660
  • 48) Burnett BG, Andrews J, Ranganathan S, Fischbeck KH, Di Prospero NA (2008)
  • Expression of expanded polyglutamine targets profilin for degradation and alters actin dynamics
  • Neurobiol Disease, 30, 365-374
  • 49) Palazzolo, I., Burnett, B.G., Young, J.E., Brenne, P.L., La Spada, A.R., Fischbeck, K.H., Howell, B.W., Pennuto, M. (2007)
  • Akt blocks ligand binding and protects against expanded polyglutamine androgen receptor toxicity
  • Hum. Mol. Genet., 16, 1593-1603
  • 50) Di Prospero NA, Sumner CJ, Penzak SR, Ravina B, Fischbeck KH, Taylor JP (2007)
  • Safety, tolerability, and pharmacokinetics of high-dose idebenone in patients with Friedreich's ataxia
  • Arch Neurol, 64, 803-808
  • 51) Di Prospero NA, Baker A, Jeffries N, Fischbeck KH (2007)
  • Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial
  • Lancet Neurology, 6, 878-886
  • 52) Avila AM, Burnett BG, Taye AA, Gabanella F, Knight MA, Hartenstein P, Cizman Z, DiProspero NA, Pellizoni L, Fischbeck KH, Sumner CJ (2007)
  • Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy
  • J Clin Invest , 117, 659-671
  • 53) Levy JR, Sumner CJ, Caviston JP, Tokito MK, Ranganathan S, Ligon LA, Wallace KE, LaMonte BH, Harmison GG, Puls I, Fischbeck KH, Holzbaur EL (2006)
  • A motor neuron disease-associated mutation in p150 perturbs dynactin function and induces protein aggregation
  • J Cell Biol, 172, 733-745
  • 54) Sumner CJ, Kolb SJ, Harmison GG, Jeffries NO, Schadt K, Finkel RS, Dreyfuss G, Fischbeck KH (2006)
  • SMN mRNA and protein levels in the peripheral blood: Biomarkers for SMA clinical trials
  • Neurology, 66, 1067-1073
  • 55) Sivakumar K, Kyriakides T, Puls I, Nicholson GA, Funalot B, Antonellis A, Sambuughin N, Christodoulou K, Beggs JL, Zamba-Papanicolaou E, Ionasescu V, Dalakas MC, Green ED, Fischbeck KH, Goldfarb LG (2005)
  • Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations
  • Brain, 128, 2304-2314
  • 56) Di Prospero NA, Fischbeck KH (2005)
  • Therapeutics development for triplet repeat expansion diseases
  • Nature Rev Genet, 6, 756-765
  • 57) Liang GSL, de Miguel M, Gomez-Hernandez JM, Glass JD, Scherer SS, Barrio LC, Fischbeck KH (2005)
  • Severe neuropathy with leaky connexin32 hemichannels
  • Ann Neurol, 57, 749-754
  • 58) Puls I, Oh SJ, Sumner C, Wallace KE, Floeter MK, Mann EA, Kennedy WR, Wendelschafer-Crabb G, Vortmeyer A, Powers R, Finnegan K, Holzbaur ELF, Fischbeck KH, Ludlow CL (2005)
  • Distal spinal and bulbar muscular atrophy caused by dynactin mutation
  • Ann Neurol, 57, 687-694
  • 59) Kernochan LE, Russo ML, Woodling NS, Huynh TN, Avila A, Fischbeck KH, Sumner CJ (2005)
  • The role of histone acetylation in SMN gene expression
  • Hum Molec Genet, 14, 1171-1182
  • 60) Verbeek DS, Knight MA, Harmison GG, Fischbeck KH, Howell BW (2005)
  • Spinocerebellar ataxia 14 mutations in protein kinase C gamma increase activity and alter membrane targeting
  • Brain, 128, 436-442
  • 61) Piccioni F, Roman BR, Fischbeck KH, Taylor JP (2004)
  • A screen for drugs that protect against the cytotoxicity of polyglutamine-expanded androgen receptor
  • Hum Molec Genet , 13, 437-446
  • 62) Chen YZ, Bennett CL, Huynh HM, Blair IP, Puls I, Irobi J, Dierick I, Abel A, Kennerson ML, Rabin BA, Nicholson GA, Auer-Grumbach M, Wagner K, De Jonghe P, Griffin JW, Fischbeck KH, Timmerman V, Cornblath DR, Chance PF (2004)
  • DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)
  • Am J Hum Genet , 74, 1128-1135
  • 63) Taylor JP, Taye AA, Campbell C, Kazemi-Esfarjani P, Fischbeck KH, Min KT (2003)
  • Aberrant histone acetylation, altered transcription, and retinal degeneration in a Drosophila model of polyglutamine disease are rescued by CREB-binding protein
  • Genes Devel , 17, 1463-1468
  • 64) Puls I, Jonnakuty C, LaMonte BH, Holzbaur ELF, Tokito M, Mann E, Floeter MK, Bidus K, Drayna D, Oh SJ, Brown RH, Ludlow CL, Fischbeck KH (2003)
  • Mutant dynactin in motor neuron disease
  • Nature Genet, 33, 455-456
  • 65) Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin SQ, Jordanova A, Kremensky I, Christadoulou K, Middleton LT, Sivakumar K, Ionasescu V, Funalot B, Vance JM, Goldfarb LG, Fischbeck KH, Green ED (2003)
  • Glycyl tRNA synthetase mutations are responsible for Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V
  • Am J Hum Genet , 72, 1293-1299
  • 66) Sumner CJ, Huynh TN, Markowitz JA, Perhac JS, Hill B, Coovert DD, Schussler K, Chen X, Jarecki J, Burghes AHM, Taylor JP, Fischbeck KH (2003)
  • Valproic acid increases SMN levels in spinal muscular atrophy patient-derived cell lines
  • Ann Neurol, 54, 647-654
  • 67) Caplen NJ, Taylor JP, Statham VS, Tanaka F, Fire AW, Morgan RA (2002)
  • Rescue of polyglutamine mediated cytotoxicity by double stranded RNA mediated RNA interference
  • Hum Molec Genet, 11, 175-184
  • 68) Hara H, Nolan PM, Scott MO, Bucan M, Wakayama Y, Fischbeck KH (2002)
  • Running endurance abnormality in mdx mice
  • Muscle Nerve , 25, 207-211
  • 69) Taylor JP, Fischbeck KH (2002)
  • Altered acetylation in polyglutamine disease: an opportunity for therapeutic intervention?
  • Trends Molec Med , 8, 195-197
  • 70) Taylor JP, Hardy J, Fischbeck KH (2002)
  • Toxic proteins in neurodegenerative disease
  • Science , 296, 1991-1995
  • 71) Lieberman AP, Harmison G, Strand AD, Olson JM, Fischbeck KH (2002)
  • Altered transcriptional regulation in cells expressing the expanded polyglutamine androgen receptor
  • Hum Molec Genet , 11, 1967-1976
  • 72) Wagner KR, Hamed SA, Hadley DW, Gropman AL, Burstein AH, Escolar D, Hoffman EP, Fischbeck KH (2001)
  • Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations
  • Ann Neurol , 49, 706-711
  • 73) Lieberman AP, Puls I, Fischbeck KH (2001)
  • Mining the genome for causes and cures of neurologic disease
  • Trends Pharmacol Sci , 22, 161-162
  • 74) McCampbell A, Fischbeck KH (2001)
  • Polyglutamine and CBP: Fatal attraction?
  • Nature Med , 7, 528-530
  • 75) Fischbeck KH (2001)
  • Polyglutamine expansion neurodegenerative disease
  • Brain Res Bull, 56, 161-163
  • 76) McCampbell A, Taye AA, Whitty L, Penney E, Steffan JS, Fischbeck KH (2001)
  • Histone deacetylase inhibitors reduce polyglutamine toxicity
  • Proc Natl Acad Sci USA , 98, 15179-15184
  • 77) McCampbell A, Taylor JP, Taye AA, Robitschek J, Li M, Walcott J, Merry D, Sobue G, Fischbeck KH (2000)
  • CREB-binding protein sequestration by expanded polyglutamine
  • Hum Molec Genet , 9, 2197-2202
  • 78) Fischbeck KH, Lieberman A, Bailey CK, Abel A, Merry DE (1999)
  • Androgen receptor mutation in Kennedy's disease
  • Phil Trans R Soc Lond, 354, 1075-1078
  • 79) Warrick JM, Paulson HL, Gray-Board GL, Bui QT, Fischbeck KH, Pittman RN, Bonini NM (1998)
  • Expanded polyglutamine protein forms nuclear inclusions and causes neural degeneration in Drosophila
  • Cell, 93, 939-949
  • 80) Merry DE, Kobayashi Y, Bailey CK, Taye AA, Fischbeck KH (1998)
  • Cleavage, aggregation and toxicity of the expanded androgen receptor in spinal and bulbar muscular atrophy
  • Hum Molec Genet, 7, 693-701
View Pubmed Publication
View/Hide All Publications