Kenneth H. Fischbeck - Publications

National Institute of Neurological Disorders and Stroke, Bethesda, MD, United States 

215 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2020 Hashizume A, Fischbeck KH, Pennuto M, Fratta P, Katsuno M. Disease mechanism, biomarker and therapeutics for spinal and bulbar muscular atrophy (SBMA). Journal of Neurology, Neurosurgery, and Psychiatry. 91: 1085-1091. PMID 32934110 DOI: 10.1136/jnnp-2020-322949  0.56
2018 Pourshafie N, Lee PR, Chen KL, Harmison GG, Bott LC, Fischbeck KH, Rinaldi C. Systemic Delivery of MicroRNA Using Recombinant Adeno-associated Virus Serotype 9 to Treat Neuromuscular Diseases in Rodents. Journal of Visualized Experiments : Jove. PMID 30148479 DOI: 10.3791/55724  0.56
2016 Polanco MJ, Parodi S, Piol D, Stack C, Chivet M, Contestabile A, Miranda HC, Lievens PM, Espinoza S, Jochum T, Rocchi A, Grunseich C, Gainetdinov RR, Cato AC, Lieberman AP, ... ... Fischbeck KH, et al. Adenylyl cyclase activating polypeptide reduces phosphorylation and toxicity of the polyglutamine-expanded androgen receptor in spinobulbar muscular atrophy. Science Translational Medicine. 8: 370ra181. PMID 28003546 DOI: 10.1126/scitranslmed.aaf9526  0.92
2016 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, et al. ML372 blocks SMN ubiquitination and improves spinal muscular atrophy pathology in mice. Jci Insight. 1: e88427. PMID 27882347 DOI: 10.1172/jci.insight.88427  0.64
2016 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. Sexual Reassignment Fails to Prevent Kennedy's Disease. Journal of Neuromuscular Diseases. 3: 121-125. PMID 27854206 DOI: 10.3233/JND-150128  0.72
2016 Landouré G, Samassékou O, Traoré M, Meilleur KG, Guinto CO, Burnett BG, Sumner CJ, Fischbeck KH. Genetics and genomic medicine in Mali: challenges and future perspectives. Molecular Genetics & Genomic Medicine. 4: 126-134. PMID 27066513 DOI: 10.1002/mgg3.212  0.64
2016 Bott LC, Badders NM, Chen KL, Harmison GG, Bautista E, Shih CC, Katsuno M, Sobue G, Taylor JP, Dantuma NP, Fischbeck KH, Rinaldi C. A small-molecule Nrf1 and Nrf2 activator mitigates polyglutamine toxicity in spinal and bulbar muscular atrophy. Human Molecular Genetics. PMID 26962150 DOI: 10.1093/hmg/ddw073  0.72
2016 Foran E, Kwon DY, Nofziger JH, Arnold ES, Hall MD, Fischbeck KH, Burnett BG. CNS uptake of bortezomib is enhanced by P-glycoprotein inhibition: Implications for spinal muscular atrophy. Neurobiology of Disease. PMID 26792401 DOI: 10.1016/j.nbd.2016.01.008  0.64
2016 Pourshafie N, Lee PR, Chen KL, Harmison GG, Bott LC, Katsuno M, Sobue G, Burnett BG, Fischbeck KH, Rinaldi C. MiR-298 Counteracts Mutant Androgen Receptor Toxicity in Spinal and Bulbar Muscular Atrophy. Molecular Therapy : the Journal of the American Society of Gene Therapy. PMID 26755334 DOI: 10.1038/mt.2016.13  0.64
2015 Fischbeck KH. Spinal and Bulbar Muscular Atrophy Overview. Journal of Molecular Neuroscience : Mn. PMID 26547319 DOI: 10.1007/s12031-015-0674-7  1
2015 Hashizume A, Katsuno M, Suzuki K, Banno H, Suga N, Mano T, Araki A, Hijikata Y, Grunseich C, Kokkinis A, Hirakawa A, Watanabe H, Yamamoto M, Fischbeck KH, Sobue G. A functional scale for spinal and bulbar muscular atrophy: Cross-sectional and longitudinal study. Neuromuscular Disorders : Nmd. 25: 554-62. PMID 25913211 DOI: 10.1016/j.nmd.2015.03.008  1
2015 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, ... ... Fischbeck KH, et al. Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia. Jama Neurology. 72: 561-70. PMID 25751282 DOI: 10.1001/jamaneurol.2014.4769  1
2015 Grunseich C, Schindler AB, Chen KL, Bakar D, Mankodi A, Traslavina R, Ray-Chaudhury A, Lehky TJ, Baker EH, Maragakis NJ, Tifft CJ, Fischbeck KH. Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency. Journal of Neurology. 262: 1066-8. PMID 25736553 DOI: 10.1007/s00415-015-7683-x  1
2015 d'Ydewalle C, Sumner CJ. Spinal Muscular Atrophy Therapeutics: Where do we Stand? Neurotherapeutics : the Journal of the American Society For Experimental Neurotherapeutics. 12: 303-16. PMID 25631888 DOI: 10.1007/s13311-015-0337-y  1
2015 Meilleur KG, Jain MS, Hynan LS, Shieh CY, Kim E, Waite M, McGuire M, Fiorini C, Glanzman AM, Main M, Rose K, Duong T, Bendixen R, Linton MM, Arveson IC, ... ... Fischbeck KH, et al. Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies. Neuromuscular Disorders : Nmd. 25: 43-54. PMID 25307854 DOI: 10.1016/j.nmd.2014.09.010  1
2014 Grunseich C, Kats IR, Bott LC, Rinaldi C, Kokkinis A, Fox D, Chen KL, Schindler AB, Mankodi AK, Shrader JA, Schwartz DP, Lehky TJ, Liu CY, Fischbeck KH. Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat. Neuromuscular Disorders : Nmd. 24: 978-81. PMID 25047668 DOI: 10.1016/j.nmd.2014.06.441  1
2014 Rotimi C, Abayomi A, Abimiku A, Adabayeri VM, Adebamowo C, Adebiyi E, Ademola AD, Adeyemo A, Adu D, Affolabi D, Agongo G, Ajayi S, Akarolo-Anthony S, Akinyemi R, ... ... Fischbeck KH, et al. Research capacity. Enabling the genomic revolution in Africa. Science (New York, N.Y.). 344: 1346-8. PMID 24948725 DOI: 10.1126/science.1251546  1
2014 Grunseich C, Zukosky K, Kats IR, Ghosh L, Harmison GG, Bott LC, Rinaldi C, Chen KL, Chen G, Boehm M, Fischbeck KH. Stem cell-derived motor neurons from spinal and bulbar muscular atrophy patients. Neurobiology of Disease. 70: 12-20. PMID 24925468 DOI: 10.1016/j.nbd.2014.05.038  1
2014 Ermanoska B, Motley WW, Leitão-Gonçalves R, Asselbergh B, Lee LH, De Rijk P, Sleegers K, Ooms T, Godenschwege TA, Timmerman V, Fischbeck KH, Jordanova A. CMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila. Neurobiology of Disease. 68: 180-9. PMID 24807208 DOI: 10.1016/j.nbd.2014.04.020  1
2014 Lynch DR, Fischbeck KH. Nicotinamide in Friedreich's ataxia: useful or not? Lancet. 384: 474-5. PMID 24794818 DOI: 10.1016/S0140-6736(14)60573-0  1
2014 Bricceno KV, Martinez T, Leikina E, Duguez S, Partridge TA, Chernomordik LV, Fischbeck KH, Sumner CJ, Burnett BG. Survival motor neuron protein deficiency impairs myotube formation by altering myogenic gene expression and focal adhesion dynamics. Human Molecular Genetics. 23: 4745-57. PMID 24760765 DOI: 10.1093/hmg/ddu189  1
2014 Rinaldi C, Bott LC, Fischbeck KH. Muscle matters in Kennedy's disease. Neuron. 82: 251-3. PMID 24742452 DOI: 10.1016/j.neuron.2014.04.005  1
2014 Lin X, Ruiz J, Bajraktari I, Ohman R, Banerjee S, Gribble K, Kaufman JD, Wingfield PT, Griggs RC, Fischbeck KH, Mankodi A. 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. The Journal of Biological Chemistry. 289: 13615-26. PMID 24668811 DOI: 10.1074/jbc.M114.550418  1
2014 Sangaré M, Hendrickson B, Sango HA, Chen K, Nofziger J, Amara A, Dutra A, Schindler AB, Guindo A, Traoré M, Harmison G, Pak E, Yaro FN, Bricceno K, Grunseich C, ... ... Fischbeck KH, et al. Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan Africa. Annals of Neurology. 75: 525-32. PMID 24515897 DOI: 10.1002/ana.24114  1
2013 Landouré G, Zhu PP, Lourenço CM, Johnson JO, Toro C, Bricceno KV, Rinaldi C, Meilleur KG, Sangaré M, Diallo O, Pierson TM, Ishiura H, Tsuji S, Hein N, Fink JK, ... ... Fischbeck KH, et al. Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12. Human Mutation. 34: 1357-60. PMID 23857908 DOI: 10.1002/humu.22378  1
2013 Turner MR, Bowser R, Bruijn L, Dupuis L, Ludolph A, McGrath M, Manfredi G, Maragakis N, Miller RG, Pullman SL, Rutkove SB, Shaw PJ, Shefner J, Fischbeck KH. Mechanisms, models and biomarkers in amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. 14: 19-32. PMID 23678877 DOI: 10.3109/21678421.2013.778554  1
2013 Kwon DY, Dimitriadi M, Terzic B, Cable C, Hart AC, Chitnis A, Fischbeck KH, Burnett BG. The E3 ubiquitin ligase mind bomb 1 ubiquitinates and promotes the degradation of survival of motor neuron protein. Molecular Biology of the Cell. 24: 1863-71. PMID 23615451 DOI: 10.1091/mbc.E13-01-0042  1
2013 Fischbeck KH. A role for androgen reduction treatment in Kennedy disease? Muscle & Nerve. 47: 789. PMID 23408598 DOI: 10.1002/mus.23814  1
2013 Lynch DR, Pandolfo M, Schulz JB, Perlman S, Delatycki MB, Payne RM, Shaddy R, Fischbeck KH, Farmer J, Kantor P, Raman SV, Hunegs L, Odenkirchen J, Miller K, Kaufmann P. Common data elements for clinical research in Friedreich's ataxia. Movement Disorders : Official Journal of the Movement Disorder Society. 28: 190-5. PMID 23239403 DOI: 10.1002/mds.25201  1
2013 Landouré G, Mochel F, Meilleur K, Ly M, Sangaré M, Bocoum N, Bagayoko K, Coulibaly T, Sarr AM, Bâ HO, Coulibaly S, Guinto CO, Touré M, Traoré M, Fischbeck KH. Novel mutation in the ATM gene in a Malian family with ataxia telangiectasia. Journal of Neurology. 260: 324-6. PMID 23142947 DOI: 10.1007/s00415-012-6738-5  1
2013 Vester A, Velez-Ruiz G, McLaughlin HM, Lupski JR, Talbot K, Vance JM, Züchner S, Roda RH, Fischbeck KH, Biesecker LG, Nicholson G, Beg AA, Antonellis A. A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo. Human Mutation. 34: 191-9. PMID 22930593 DOI: 10.1002/humu.22210  1
2012 Rinaldi C, Grunseich C, Sevrioukova IF, Schindler A, Horkayne-Szakaly I, Lamperti C, Landouré G, Kennerson ML, Burnett BG, Bönnemann C, Biesecker LG, Ghezzi D, Zeviani M, Fischbeck KH. Cowchock syndrome is associated with a mutation in apoptosis-inducing factor. American Journal of Human Genetics. 91: 1095-102. PMID 23217327 DOI: 10.1016/j.ajhg.2012.10.008  1
2012 Rinaldi C, Bott LC, Chen KL, Harmison GG, Katsuno M, Sobue G, Pennuto M, Fischbeck KH. Insulinlike growth factor (IGF)-1 administration ameliorates disease manifestations in a mouse model of spinal and bulbar muscular atrophy. Molecular Medicine (Cambridge, Mass.). 18: 1261-8. PMID 22952056 DOI: 10.2119/molmed.2012.00271  1
2012 Bricceno KV, Sampognaro PJ, Van Meerbeke JP, Sumner CJ, Fischbeck KH, Burnett BG. Histone deacetylase inhibition suppresses myogenin-dependent atrogene activation in spinal muscular atrophy mice. Human Molecular Genetics. 21: 4448-59. PMID 22798624 DOI: 10.1093/hmg/dds286  1
2012 Landouré G, Knight MA, Stanescu H, Taye AA, Shi Y, Diallo O, Johnson JO, Hernandez D, Traynor BJ, Biesecker LG, Elkahloun A, Rinaldi C, Vincent A, Willcox N, ... ... Fischbeck KH, et al. A candidate gene for autoimmune myasthenia gravis. Neurology. 79: 342-7. PMID 22744667 DOI: 10.1212/WNL.0b013e318260cbd0  1
2012 Landouré G, Sullivan JM, Johnson JO, Munns CH, Shi Y, Diallo O, Gibbs JR, Gaudet R, Ludlow CL, Fischbeck KH, Traynor BJ, Burnett BG, Sumner CJ. Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family. Neurology. 79: 192-4. PMID 22675077 DOI: 10.1212/WNL.0b013e31825f04b2  1
2012 Fischbeck KH. Developing treatment for spinal and bulbar muscular atrophy. Progress in Neurobiology. 99: 257-61. PMID 22668795 DOI: 10.1016/j.pneurobio.2012.05.012  1
2012 Bricceno KV, Fischbeck KH, Burnett BG. Neurogenic and myogenic contributions to hereditary motor neuron disease. Neuro-Degenerative Diseases. 9: 199-209. PMID 22327341 DOI: 10.1159/000335311  1
2011 Fischbeck KH. Past, present, and future of polyglutamine expansion disease. Rinshō Shinkeigaku = Clinical Neurology. 51: 825. PMID 22277381 DOI: JST.JSTAGE/clinicalneurol/51.825  1
2011 Motley WW, Seburn KL, Nawaz MH, Miers KE, Cheng J, Antonellis A, Green ED, Talbot K, Yang XL, Fischbeck KH, Burgess RW. Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels. Plos Genetics. 7: e1002399. PMID 22144914 DOI: 10.1371/journal.pgen.1002399  1
2011 Meilleur KG, Coulibaly S, Traoré M, Landouré G, La Pean A, Sangaré M, Mochel F, Traoré S, Fischbeck KH, Han HR. Genetic testing and counseling for hereditary neurological diseases in Mali. Journal of Community Genetics. 2: 33-42. PMID 22109722 DOI: 10.1007/s12687-011-0038-0  1
2011 ZimoÅ„ M, Baets J, Fabrizi GM, Jaakkola E, KabziÅ„ska D, Pilch J, Schindler AB, Cornblath DR, Fischbeck KH, Auer-Grumbach M, Guelly C, Huber N, De Vriendt E, Timmerman V, Suter U, et al. Dominant GDAP1 mutations cause predominantly mild CMT phenotypes. Neurology. 77: 540-8. PMID 21753178 DOI: 10.1212/WNL.0b013e318228fc70  1
2011 Kwon DY, Motley WW, Fischbeck KH, Burnett BG. Increasing expression and decreasing degradation of SMN ameliorate the spinal muscular atrophy phenotype in mice. Human Molecular Genetics. 20: 3667-77. PMID 21693563 DOI: 10.1093/hmg/ddr288  1
2011 Fischbeck KH, Pulst SM. Amyotrophic lateral sclerosis and spinocerebellar ataxia 2. Neurology. 76: 2050-1. PMID 21562249 DOI: 10.1212/WNL.0b013e31821f4498  1
2011 Traoré M, Coulibaly T, Meilleur KG, La Pean A, Sangaré M, Landouré G, Mochel F, Karambé M, Guinto CO, Fischbeck KH. Clinical and genetic analysis of spinocerebellar ataxia in Mali. European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies. 18: 1269-71. PMID 21418439 DOI: 10.1111/j.1468-1331.2011.03376.x  1
2011 Fernández-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, ... ... Fischbeck KH, et al. Efficacy and safety of dutasteride in patients with spinal and bulbar muscular atrophy: a randomised placebo-controlled trial. The Lancet. Neurology. 10: 140-7. PMID 21216197 DOI: 10.1016/S1474-4422(10)70321-5  1
2010 Ranganathan S, Fischbeck KH. Therapeutic approaches to spinal and bulbar muscular atrophy. Trends in Pharmacological Sciences. 31: 523-7. PMID 20863580 DOI: 10.1016/  1
2010 Gitlin JM, Fischbeck K, Crawford TO, Cwik V, Fleischman A, Gonye K, Heine D, Hobby K, Kaufmann P, Keiles S, MacKenzie A, Musci T, Prior T, Lloyd-Puryear M, Sugarman EA, et al. Carrier testing for spinal muscular atrophy. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 12: 621-2. PMID 20808230 DOI: 10.1097/GIM.0b013e3181ef6079  1
2010 Zimo? M, Baets J, Auer-Grumbach M, Berciano J, Garcia A, Lopez-Laso E, Merlini L, Hilton-Jones D, McEntagart M, Crosby AH, Barisic N, Boltshauser E, Shaw CE, Landouré G, Ludlow CL, ... ... Fischbeck KH, et al. Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies. Brain : a Journal of Neurology. 133: 1798-809. PMID 20460441 DOI: 10.1093/brain/awq109  1
2010 Palazzolo I, Nedelsky NB, Askew CE, Harmison GG, Kasantsev AG, Taylor JP, Fischbeck KH, Pennuto M. B2 attenuates polyglutamine-expanded androgen receptor toxicity in cell and fly models of spinal and bulbar muscular atrophy. Journal of Neuroscience Research. 88: 2207-16. PMID 20336775 DOI: 10.1002/jnr.22389  1
2010 Motley WW, Talbot K, Fischbeck KH. GARS axonopathy: not every neuron's cup of tRNA. Trends in Neurosciences. 33: 59-66. PMID 20152552 DOI: 10.1016/j.tins.2009.11.001  1
2010 Haugen AC, Di Prospero NA, Parker JS, Fannin RD, Chou J, Meyer JN, Halweg C, Collins JB, Durr A, Fischbeck K, Van Houten B. Altered gene expression and DNA damage in peripheral blood cells from Friedreich's ataxia patients: cellular model of pathology. Plos Genetics. 6: e1000812. PMID 20090835 DOI: 10.1371/journal.pgen.1000812  1
2010 Meilleur KG, Traoré M, Sangaré M, Britton A, Landouré G, Coulibaly S, Niaré B, Mochel F, La Pean A, Rafferty I, Watts C, Shriner D, Littleton-Kearney MT, Blackstone C, Singleton A, ... Fischbeck KH, et al. Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19. Neurogenetics. 11: 313-8. PMID 20039086 DOI: 10.1007/s10048-009-0230-0  1
2010 Landouré 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, ... ... Fischbeck KH, et al. Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. Nature Genetics. 42: 170-4. PMID 20037586 DOI: 10.1038/ng.512  1
2010 Pennuto M, Fischbeck KH. Therapeutic Prospects for Polyglutamine Disease Protein Misfolding Diseases: Current and Emerging Principles and Therapies. 887-902. DOI: 10.1002/9780470572702.ch40  1
2009 Rhodes LE, Freeman BK, Auh S, Kokkinis AD, La Pean A, Chen C, Lehky TJ, Shrader JA, Levy EW, Harris-Love M, Di Prospero NA, Fischbeck KH. Clinical features of spinal and bulbar muscular atrophy. Brain : a Journal of Neurology. 132: 3242-51. PMID 19846582 DOI: 10.1093/brain/awp258  1
2009 Palazzolo I, Stack C, Kong L, Musaro A, Adachi H, Katsuno M, Sobue G, Taylor JP, Sumner CJ, Fischbeck KH, Pennuto M. Overexpression of IGF-1 in muscle attenuates disease in a mouse model of spinal and bulbar muscular atrophy. Neuron. 63: 316-28. PMID 19679072 DOI: 10.1016/j.neuron.2009.07.019  1
2009 Lehky TJ, Chen CJ, di Prospero NA, Rhodes LE, Fischbeck K, Floeter MK. Standard and modified statistical MUNE evaluations in spinal-bulbar muscular atrophy. Muscle & Nerve. 40: 809-14. PMID 19670325 DOI: 10.1002/mus.21399  1
2009 Traoré M, Landouré G, Motley W, Sangaré M, Meilleur K, Coulibaly S, Traoré S, Niaré B, Mochel F, La Pean A, Vortmeyer A, Mani H, Fischbeck KH. Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease. Neurogenetics. 10: 319-23. PMID 19322595 DOI: 10.1007/s10048-009-0190-4  1
2009 Schulz JB, Di Prospero NA, Fischbeck K. Clinical experience with high-dose idebenone in Friedreich ataxia. Journal of Neurology. 256: 42-5. PMID 19283350 DOI: 10.1007/s00415-009-1008-x  1
2009 Fischbeck KH, Bryan WW. Anti-androgen treatment for spinal and bulbar muscular atrophy. Annals of Neurology. 65: 119-20. PMID 19259961 DOI: 10.1002/ana.21633  1
2009 Young JE, Garden GA, Martinez RA, Tanaka F, Sandoval CM, Smith AC, Sopher BL, Lin A, Fischbeck KH, Ellerby LM, Morrison RS, Taylor JP, La Spada AR. Polyglutamine-expanded androgen receptor truncation fragments activate a Bax-dependent apoptotic cascade mediated by DP5/Hrk. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 29: 1987-97. PMID 19228953 DOI: 10.1523/JNEUROSCI.4072-08.2009  1
2009 Burnett BG, Muñoz E, Tandon A, Kwon DY, Sumner CJ, Fischbeck KH. Regulation of SMN protein stability. Molecular and Cellular Biology. 29: 1107-15. PMID 19103745 DOI: 10.1128/MCB.01262-08  1
2009 Ranganathan S, Harmison GG, Meyertholen K, Pennuto M, Burnett BG, Fischbeck KH. Mitochondrial abnormalities in spinal and bulbar muscular atrophy. Human Molecular Genetics. 18: 27-42. PMID 18824496 DOI: 10.1093/hmg/ddn310  1
2008 Knight MA, Hernandez D, Diede SJ, Dauwerse HG, Rafferty I, van de Leemput J, Forrest SM, Gardner RJ, Storey E, van Ommen GJ, Tapscott SJ, Fischbeck KH, Singleton AB. A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20. Human Molecular Genetics. 17: 3847-53. PMID 18801880 DOI: 10.1093/hmg/ddn283  1
2008 Burnett BG, Andrews J, Ranganathan S, Fischbeck KH, Di Prospero NA. Expression of expanded polyglutamine targets profilin for degradation and alters actin dynamics. Neurobiology of Disease. 30: 365-74. PMID 18417352 DOI: 10.1016/j.nbd.2008.02.007  1
2008 Mochel F, Knight MA, Tong WH, Hernandez D, Ayyad K, Taivassalo T, Andersen PM, Singleton A, Rouault TA, Fischbeck KH, Haller RG. Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance. American Journal of Human Genetics. 82: 652-60. PMID 18304497 DOI: 10.1016/j.ajhg.2007.12.012  1
2007 Di Prospero NA, Baker A, Jeffries N, Fischbeck KH. Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial. The Lancet. Neurology. 6: 878-86. PMID 17826341 DOI: 10.1016/S1474-4422(07)70220-X  1
2007 Di Prospero NA, Sumner CJ, Penzak SR, Ravina B, Fischbeck KH, Taylor JP. Safety, tolerability, and pharmacokinetics of high-dose idebenone in patients with Friedreich ataxia. Archives of Neurology. 64: 803-8. PMID 17562928 DOI: 10.1001/archneur.64.6.803  1
2007 Palazzolo I, Burnett BG, Young JE, Brenne PL, La Spada AR, Fischbeck KH, Howell BW, Pennuto M. Akt blocks ligand binding and protects against expanded polyglutamine androgen receptor toxicity. Human Molecular Genetics. 16: 1593-603. PMID 17470458 DOI: 10.1093/hmg/ddm109  1
2007 Avila AM, Burnett BG, Taye AA, Gabanella F, Knight MA, Hartenstein P, Cizman Z, Di Prospero NA, Pellizzoni L, Fischbeck KH, Sumner CJ. Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy. The Journal of Clinical Investigation. 117: 659-71. PMID 17318264 DOI: 10.1172/JCI29562  1
2007 Andresen JM, Gayán J, Djoussé L, Roberts S, Brocklebank D, Cherny SS, Cardon LR, Gusella JF, MacDonald ME, Myers RH, Housman DE, Wexler NS. The relationship between CAG repeat length and age of onset differs for Huntington's disease patients with juvenile onset or adult onset. Annals of Human Genetics. 71: 295-301. PMID 17181545 DOI: 10.1111/j.1469-1809.2006.00335.x  1
2006 Antonellis A, Lee-Lin SQ, Wasterlain A, Leo P, Quezado M, Goldfarb LG, Myung K, Burgess S, Fischbeck KH, Green ED. Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 26: 10397-406. PMID 17035524 DOI: 10.1523/JNEUROSCI.1671-06.2006  1
2006 Jeng LJ, Balice-Gordon RJ, Messing A, Fischbeck KH, Scherer SS. The effects of a dominant connexin32 mutant in myelinating Schwann cells. Molecular and Cellular Neurosciences. 32: 283-98. PMID 16790356 DOI: 10.1016/j.mcn.2006.05.001  1
2006 Levy JR, Sumner CJ, Caviston JP, Tokito MK, Ranganathan S, Ligon LA, Wallace KE, LaMonte BH, Harmison GG, Puls I, Fischbeck KH, Holzbaur EL. A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation. The Journal of Cell Biology. 172: 733-45. PMID 16505168 DOI: 10.1083/jcb.200511068  1
2006 Sumner CJ, Kolb SJ, Harmison GG, Jeffries NO, Schadt K, Finkel RS, Dreyfuss G, Fischbeck KH. SMN mRNA and protein levels in peripheral blood: biomarkers for SMA clinical trials. Neurology. 66: 1067-73. PMID 16481599 DOI: 10.1212/01.wnl.0000201929.56928.13  1
2006 Kolb SJ, Gubitz AK, Olszewski RF, Ottinger E, Sumner CJ, Fischbeck KH, Dreyfuss G. A novel cell immunoassay to measure survival of motor neurons protein in blood cells. Bmc Neurology. 6: 6. PMID 16451734 DOI: 10.1186/1471-2377-6-6  1
2006 Chen C, Fischbeck KH. Clinical features and molecular biology of Kennedy's disease Genetic Instabilities and Neurological Diseases, Second Edition. 211-220. DOI: 10.1016/B978-012369462-1/50014-4  1
2005 Di Prospero NA, Fischbeck KH. Therapeutics development for triplet repeat expansion diseases. Nature Reviews. Genetics. 6: 756-65. PMID 16205715 DOI: 10.1038/nrg1690  1
2005 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. Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations. Brain : a Journal of Neurology. 128: 2304-14. PMID 16014653 DOI: 10.1093/brain/awh590  1
2005 Puls I, Oh SJ, Sumner CJ, Wallace KE, Floeter MK, Mann EA, Kennedy WR, Wendelschafer-Crabb G, Vortmeyer A, Powers R, Finnegan K, Holzbaur EL, Fischbeck KH, Ludlow CL. Distal spinal and bulbar muscular atrophy caused by dynactin mutation. Annals of Neurology. 57: 687-94. PMID 15852399 DOI: 10.1002/ana.20468  1
2005 Liang GS, de Miguel M, Gómez-Hernández JM, Glass JD, Scherer SS, Mintz M, Barrio LC, Fischbeck KH. Severe neuropathy with leaky connexin32 hemichannels. Annals of Neurology. 57: 749-54. PMID 15852376 DOI: 10.1002/ana.20459  1
2005 Subramony SH, May W, Lynch D, Gomez C, Fischbeck K, Hallett M, Taylor P, Wilson R, Ashizawa T. Measuring Friedreich ataxia: Interrater reliability of a neurologic rating scale Neurology. 64: 1261-1262. PMID 15824358  1
2005 Kernochan LE, Russo ML, Woodling NS, Huynh TN, Avila AM, Fischbeck KH, Sumner CJ. The role of histone acetylation in SMN gene expression. Human Molecular Genetics. 14: 1171-82. PMID 15772088 DOI: 10.1093/hmg/ddi130  1
2005 Scherer SS, Xu YT, Messing A, Willecke K, Fischbeck KH, Jeng LJ. Transgenic expression of human connexin32 in myelinating Schwann cells prevents demyelination in connexin32-null mice. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 25: 1550-9. PMID 15703409 DOI: 10.1523/JNEUROSCI.3082-04.2005  1
2005 Verbeek DS, Knight MA, Harmison GG, Fischbeck KH, Howell BW. Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting. Brain : a Journal of Neurology. 128: 436-42. PMID 15618281 DOI: 10.1093/brain/awh378  1
2005 Hogarth P, Kayson E, Kieburtz K, Marder K, Oakes D, Rosas D, Shoulson I, Wexler NS, Young AB, Zhao H. Interrater agreement in the assessment of motor manifestations of Huntington's disease. Movement Disorders : Official Journal of the Movement Disorder Society. 20: 293-7. PMID 15584032 DOI: 10.1002/mds.20332  1
2005 Heemskerk J, Fischbeck KH. Therapeutics Development for Hereditary Neurological Diseases From Neuroscience to Neurology. 285-291. DOI: 10.1016/B978-012738903-5/50017-5  1
2004 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, et al. DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). American Journal of Human Genetics. 74: 1128-35. PMID 15106121 DOI: 10.1086/421054  1
2004 Wexler NS, Lorimer J, Porter J, Gomez F, Moskowitz C, Shackell E, Marder K, Penchaszadeh G, Roberts SA, Gayán J, Brocklebank D, Cherny SS, Cardon LR, Gray J, Dlouhy SR, ... ... Fischbeck K, et al. Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset. Proceedings of the National Academy of Sciences of the United States of America. 101: 3498-503. PMID 14993615 DOI: 10.1073/pnas.0308679101  1
2004 Markowitz JA, Tinkle MB, Fischbeck KH. Spinal muscular atrophy in the neonate. Journal of Obstetric, Gynecologic, and Neonatal Nursing : Jognn / Naacog. 33: 12-20. PMID 14971549 DOI: 10.1177/0884217503261125  1
2004 Piccioni F, Roman BR, Fischbeck KH, Taylor JP. A screen for drugs that protect against the cytotoxicity of polyglutamine-expanded androgen receptor. Human Molecular Genetics. 13: 437-46. PMID 14709594 DOI: 10.1093/hmg/ddh045  1
2003 Sumner CJ, Huynh TN, Markowitz JA, Perhac JS, Hill B, Coovert DD, Schussler K, Chen X, Jarecki J, Burghes AH, Taylor JP, Fischbeck KH. Valproic acid increases SMN levels in spinal muscular atrophy patient cells. Annals of Neurology. 54: 647-54. PMID 14595654 DOI: 10.1002/ana.10743  1
2003 Taylor JP, Taye AA, Campbell C, Kazemi-Esfarjani P, Fischbeck KH, Min KT. Aberrant histone acetylation, altered transcription, and retinal degeneration in a Drosophila model of polyglutamine disease are rescued by CREB-binding protein. Genes & Development. 17: 1463-8. PMID 12815067 DOI: 10.1101/gad.1087503  1
2003 Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin SQ, Jordanova A, Kremensky I, Christodoulou K, Middleton LT, Sivakumar K, Ionasescu V, Funalot B, Vance JM, Goldfarb LG, ... Fischbeck KH, et al. Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. American Journal of Human Genetics. 72: 1293-9. PMID 12690580 DOI: 10.1086/375039  1
2003 Taylor JP, Tanaka F, Robitschek J, Sandoval CM, Taye A, Markovic-Plese S, Fischbeck KH. Aggresomes protect cells by enhancing the degradation of toxic polyglutamine-containing protein. Human Molecular Genetics. 12: 749-57. PMID 12651870 DOI: 10.1093/hmg/ddg074  1
2003 Puls I, Jonnakuty C, LaMonte BH, Holzbaur EL, Tokito M, Mann E, Floeter MK, Bidus K, Drayna D, Oh SJ, Brown RH, Ludlow CL, Fischbeck KH. Mutant dynactin in motor neuron disease. Nature Genetics. 33: 455-6. PMID 12627231 DOI: 10.1038/ng1123  1
2003 Sumner CJ, Fischbeck KH. Chapter 17 Kennedy's Disease Blue Books of Practical Neurology. 28: 425-434,cp1-cp2. DOI: 10.1016/S1877-3419(09)70118-7  1
2002 Sumner CJ, Fischbeck KH. Jaw drop in Kennedy's disease. Neurology. 59: 1471-2. PMID 12427914 DOI: 10.1212/01.WNL.0000033325.01878.13  1
2002 Paulson HL, Garbern JY, Hoban TF, Krajewski KM, Lewis RA, Fischbeck KH, Grossman RI, Lenkinski R, Kamholz JA, Shy ME. Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease. Annals of Neurology. 52: 429-34. PMID 12325071 DOI: 10.1002/ana.10305  1
2002 Lieberman AP, Harmison G, Strand AD, Olson JM, Fischbeck KH. Altered transcriptional regulation in cells expressing the expanded polyglutamine androgen receptor. Human Molecular Genetics. 11: 1967-76. PMID 12165558  1
2002 Taylor JP, Fischbeck KH. Altered acetylation in polyglutamine disease: an opportunity for therapeutic intervention? Trends in Molecular Medicine. 8: 195-7. PMID 12067622 DOI: 10.1016/S1471-4914(02)02332-8  1
2002 Taylor JP, Hardy J, Fischbeck KH. Toxic proteins in neurodegenerative disease. Science (New York, N.Y.). 296: 1991-5. PMID 12065827 DOI: 10.1126/science.1067122  1
2002 Hara H, Nolan PM, Scott MO, Bucan M, Wakayama Y, Fischbeck KH. Running endurance abnormality in mdx mice. Muscle & Nerve. 25: 207-11. PMID 11870688 DOI: 10.1002/mus.10023  1
2001 McCampbell A, Taye AA, Whitty L, Penney E, Steffan JS, Fischbeck KH. Histone deacetylase inhibitors reduce polyglutamine toxicity. Proceedings of the National Academy of Sciences of the United States of America. 98: 15179-84. PMID 11742087 DOI: 10.1073/pnas.261400698  1
2001 Fischbeck KH. Polyglutamine expansion neurodegenerative disease. Brain Research Bulletin. 56: 161-3. PMID 11719245 DOI: 10.1016/S0361-9230(01)00577-9  1
2001 Puls I, Lieberman AP, Fischbeck KH. Impact of the human genome sequence on neurology and neuroscience. Archives of Neurology. 58: 1750-1. PMID 11708978  1
2001 Wagner KR, Hamed S, Hadley DW, Gropman AL, Burstein AH, Escolar DM, Hoffman EP, Fischbeck KH. Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations. Annals of Neurology. 49: 706-11. PMID 11409421 DOI: 10.1002/ana.1023  1
2001 Lieberman AP, Friedlich DL, Harmison G, Howell BW, Jordan CL, Breedlove SM, Fischbeck KH. Androgens regulate the mammalian homologues of invertebrate sex determination genes tra-2 and fox-1. Biochemical and Biophysical Research Communications. 282: 499-506. PMID 11401487 DOI: 10.1006/bbrc.2001.4617  1
2001 McCampbell A, Fischbeck KH. Polyglutamine and CBP: fatal attraction? Nature Medicine. 7: 528-30. PMID 11329046 DOI: 10.1038/87842  1
2001 Lieberman AP, Puls I, Fischbeck KH. Mining the genome for causes and cures of neurological disease. Trends in Pharmacological Sciences. 22: 161-2. PMID 11282405 DOI: 10.1016/S0165-6147(00)01681-3  1
2000 Blair IP, Bennett CL, Abel A, Rabin BA, Griffin JW, Fischbeck KH, Cornblath DR, Chance PF. A gene for autosomal dominant juvenile amyotrophic lateral sclerosis (ALS4) localizes to a 500-kb interval on chromosome 9q34. Neurogenetics. 3: 1-6. PMID 11085590 DOI: 10.007/s100489900089  1
2000 McCampbell A, Taylor JP, Taye AA, Robitschek J, Li M, Walcott J, Merry D, Chai Y, Paulson H, Sobue G, Fischbeck KH. CREB-binding protein sequestration by expanded polyglutamine. Human Molecular Genetics. 9: 2197-202. PMID 10958659  1
2000 Lieberman AP, Fischbeck KH. Triplet repeat expansion in neuromuscular disease. Muscle & Nerve. 23: 843-50. PMID 10842259 DOI: 10.1002/(SICI)1097-4598(200006)23:6<843::AID-MUS2>3.0.CO;2-8  1
2000 Wilson RB, Lynch DR, Farmer JM, Brooks DG, Fischbeck KH. Increased serum transferrin receptor concentrations in Friedreich ataxia. Annals of Neurology. 47: 659-61. PMID 10805340 DOI: 10.1002/1531-8249(200005)47:5<659::AID-ANA17>3.0.CO;2-T  1
2000 McCampbell A, Fischbeck KH. Molecular mechanism of spinal and bulbar muscular atrophy Neuroscience News. 3: 65-71.  1
1999 Lin GS, Glass JD, Shumas S, Scherer SS, Fischbeck KH. A unique mutation in connexin32 associated with severe, early onset CMTX in a heterozygous female. Annals of the New York Academy of Sciences. 883: 481-4. PMID 10586279  1
1999 Fischbeck KH, Abel A, Lin GS, Scherer SS. X-linked Charcot-Marie-Tooth disease and connexin32. Annals of the New York Academy of Sciences. 883: 36-41. PMID 10586227  1
1999 Lieberman AP, Trojanowski JQ, Leonard DG, Chen KL, Barnett JL, Leverenz JB, Bird TD, Robitaille Y, Malandrini A, Fischbeck KH. Ataxin 1 and ataxin 3 in neuronal intranuclear inclusion disease. Annals of Neurology. 46: 271-3. PMID 10443897 DOI: 10.1002/1531-8249(199908)46:2<271::AID-ANA21>3.0.CO;2-M  1
1999 Fischbeck KH, Lieberman A, Bailey CK, Abel A, Merry DE. Androgen receptor mutation in Kennedy's disease. Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences. 354: 1075-8. PMID 10434308 DOI: 10.1098/rstb.1999.0461  1
1999 Abel A, Bone LJ, Messing A, Scherer SS, Fischbeck KH. Studies in transgenic mice indicate a loss of connexin32 function in X-linked Charcot-Marie-Tooth disease. Journal of Neuropathology and Experimental Neurology. 58: 702-10. PMID 10411340  1
1999 Hadjigeorgiou GM, Kim SH, Fischbeck KH, Andreu AL, Berry GT, Bingham P, Shanske S, Bonilla E, DiMauro S. A new mitochondrial DNA mutation (A3288G) in the tRNA(Leu(UUR)) gene associated with familial myopathy. Journal of the Neurological Sciences. 164: 153-7. PMID 10402027 DOI: 10.1016/S0022-510X(99)00062-3  1
1999 Scherer SS, Bone LJ, Deschênes SM, Abel A, Balice-Gordon RJ, Fischbeck KH. The role of the gap junction protein connexin32 in the pathogenesis of X-linked Charcot-Marie-Tooth disease. Novartis Foundation Symposium. 219: 175-85; discussion 1. PMID 10207904  1
1999 Scherer SS, Fischbeck KH. Is CMTX an axonopathy? Neurology. 52: 432-3. PMID 9932989  1
1998 Li M, Nakagomi Y, Kobayashi Y, Merry DE, Tanaka F, Doyu M, Mitsuma T, Hashizume Y, Fischbeck KH, Sobue G. Nonneural nuclear inclusions of androgen receptor protein in spinal and bulbar muscular atrophy. The American Journal of Pathology. 153: 695-701. PMID 9736019 DOI: 10.1016/S0002-9440(10)65612-X  1
1998 Li M, Miwa S, Kobayashi Y, Merry DE, Yamamoto M, Tanaka F, Doyu M, Hashizume Y, Fischbeck KH, Sobue G. Nuclear inclusions of the androgen receptor protein in spinal and bulbar muscular atrophy. Annals of Neurology. 44: 249-54. PMID 9708548 DOI: 10.1002/ana.410440216  1
1998 Wilson RB, Lynch DR, Fischbeck KH. Normal serum iron and ferritin concentrations in patients with Friedreich's ataxia. Annals of Neurology. 44: 132-4. PMID 9667602 DOI: 10.1002/ana.410440121  1
1998 Warrick JM, Paulson HL, Gray-Board GL, Bui QT, Fischbeck KH, Pittman RN, Bonini NM. Expanded polyglutamine protein forms nuclear inclusions and causes neural degeneration in Drosophila. Cell. 93: 939-49. PMID 9635424 DOI: 10.1016/S0092-8674(00)81200-3  1
1998 La Spada AR, Peterson KR, Meadows SA, McClain ME, Jeng G, Chmelar RS, Haugen HA, Chen K, Singer MJ, Moore D, Trask BJ, Fischbeck KH, Clegg CH, McKnight GS. Androgen receptor YAC transgenic mice carrying CAG 45 alleles show trinucleotide repeat instability. Human Molecular Genetics. 7: 959-67. PMID 9580659 DOI: 10.1093/hmg/7.6.959  1
1998 Lieberman AP, Robitaille Y, Trojanowski JQ, Dickson DW, Fischbeck KH. Polyglutamine-containing aggregates in neuronal intranuclear inclusion disease. Lancet. 351: 884. PMID 9525376 DOI: 10.1016/S0140-6736(05)70296-8  1
1998 Merry DE, Kobayashi Y, Bailey CK, Taye AA, Fischbeck KH. Cleavage, aggregation and toxicity of the expanded androgen receptor in spinal and bulbar muscular atrophy. Human Molecular Genetics. 7: 693-701. PMID 9499423 DOI: 10.1093/hmg/7.4.693  1
1998 Brooks BP, Merry DE, Paulson HL, Lieberman AP, Kolson DL, Fischbeck KH. A cell culture model for androgen effects in motor neurons. Journal of Neurochemistry. 70: 1054-60. PMID 9489725  1
1997 Deschênes SM, Walcott JL, Wexler TL, Scherer SS, Fischbeck KH. Altered trafficking of mutant connexin32. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 17: 9077-84. PMID 9364054  1
1997 Bone LJ, Deschênes SM, Balice-Gordon RJ, Fischbeck KH, Scherer SS. Connexin32 and X-linked Charcot-Marie-Tooth disease. Neurobiology of Disease. 4: 221-30. PMID 9361298 DOI: 10.1006/nbdi.1997.0152  1
1997 Paulson HL, Perez MK, Trottier Y, Trojanowski JQ, Subramony SH, Das SS, Vig P, Mandel JL, Fischbeck KH, Pittman RN. Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3. Neuron. 19: 333-44. PMID 9292723 DOI: 10.1016/S0896-6273(00)80943-5  1
1997 Lynch DR, Hara H, Yum SW, Chance PF, Scherer SS, Bird SJ, Fischbeck KH. Autosomal dominant transmission of Dejerine-Sottas disease (HMSN III). Neurology. 49: 601-3. PMID 9270606 DOI: 10.1212/WNL.49.2.601  1
1997 Fischbeck KH. Kennedy disease. Journal of Inherited Metabolic Disease. 20: 152-8. PMID 9211187 DOI: 10.1023/A:1005344403603  1
1997 Brooks BP, Paulson HL, Merry DE, Salazar-Grueso EF, Brinkmann AO, Wilson EM, Fischbeck KH. Characterization of an expanded glutamine repeat androgen receptor in a neuronal cell culture system. Neurobiology of Disease. 3: 313-23. PMID 9173928 DOI: 10.1006/nbdi.1997.0126  1
1997 Ohno K, Quiram PA, Milone M, Wang HL, Harper MC, Pruitt JN, Brengman JM, Pao L, Fischbeck KH, Crawford TO, Sine SM, Engel AG. Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations. Human Molecular Genetics. 6: 753-66. PMID 9158150  1
1997 Paulson HL, Das SS, Crino PB, Perez MK, Patel SC, Gotsdiner D, Fischbeck KH, Pittman RN. Machado-Joseph disease gene product is a cytoplasmic protein widely expressed in brain. Annals of Neurology. 41: 453-62. PMID 9124802 DOI: 10.1002/ana.410410408  1
1996 Fischbeck KH, Deschênes SM, Bone LJ, Scherer SS. Connexin32 and X-linked Charcot-Marie-Tooth disease. Cold Spring Harbor Symposia On Quantitative Biology. 61: 673-7. PMID 9246493  1
1996 Koshy B, Matilla T, Burright EN, Merry DE, Fischbeck KH, Orr HT, Zoghbi HY. Spinocerebellar ataxia type-1 and spinobulbar muscular atrophy gene products interact with glyceraldehyde-3-phosphate dehydrogenase. Human Molecular Genetics. 5: 1311-8. PMID 8872471 DOI: 10.1093/hmg/5.9.1311  1
1996 Tanaka F, Doyu M, Ito Y, Matsumoto M, Mitsuma T, Abe K, Aoki M, Itoyama Y, Fischbeck KH, Sobue G. Founder effect in spinal and bulbar muscular atrophy (SBMA). Human Molecular Genetics. 5: 1253-7. PMID 8872464 DOI: 10.1093/hmg/5.9.1253  1
1996 Paulson HL, Fischbeck KH. Trinucleotide repeats in neurogenetic disorders. Annual Review of Neuroscience. 19: 79-107. PMID 8833437 DOI: 10.1146/  1
1996 Spiegel R, La Spada AR, Kress W, Fischbeck KH, Schmid W. Somatic stability of the expanded CAG trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. Human Mutation. 8: 32-7. PMID 8807333 DOI: 10.1002/(SICI)1098-1004(1996)8:1<32::AID-HUMU4>3.0.CO;2-R  1
1995 Priest JM, Fischbeck KH, Nouri N, Keats BJ. A locus for axonal motor-sensory neuropathy with deafness and mental retardation maps to Xq24-q26. Genomics. 29: 409-12. PMID 8666389 DOI: 10.1006/geno.1995.9987  1
1995 Fischbeck KH. The expanded trinucleotide repeat in Kennedy's disease. Proceedings of the Association of American Physicians. 107: 228-30. PMID 8624856  1
1995 Scherer SS, Deschênes SM, Xu YT, Grinspan JB, Fischbeck KH, Paul DL. Connexin32 is a myelin-related protein in the PNS and CNS. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 15: 8281-94. PMID 8613761  1
1995 Brooks BP, Fischbeck KH. Spinal and bulbar muscular atrophy: a trinucleotide-repeat expansion neurodegenerative disease. Trends in Neurosciences. 18: 459-61. PMID 8545913 DOI: 10.1016/0166-2236(95)94497-S  1
1995 Zhang L, Fischbeck KH, Arnheim N. CAG repeat length variation in sperm from a patient with Kennedy's disease. Human Molecular Genetics. 4: 303-5. PMID 7757084 DOI: 10.1093/hmg/4.2.303  1
1995 Bingham PM, Scott MO, Wang S, McPhaul MJ, Wilson EM, Garbern JY, Merry DE, Fischbeck KH. Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice. Nature Genetics. 9: 191-6. PMID 7719348 DOI: 10.1038/ng0295-191  1
1995 Lynch DR, McDonald-McGinn DM, Zackai EH, Emanuel BS, Driscoll DA, Whitaker LA, Fischbeck KH. Cerebellar atrophy in a patient with velocardiofacial syndrome. Journal of Medical Genetics. 32: 561-3. PMID 7562973 DOI: 10.1136/jmg.32.7.561  1
1995 Bone LJ, Dahl N, Lensch MW, Chance PF, Kelly T, Le Guern E, Magi S, Parry G, Shapiro H, Wang S, Fischbeck KH. New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease Neurology. 45: 1863-1866. PMID 7477983  1
1994 Schoenberg MP, Hakimi JM, Wang S, Bova GS, Epstein JI, Fischbeck KH, Isaacs WB, Walsh PC, Barrack ER. Microsatellite mutation (CAG24-->18) in the androgen receptor gene in human prostate cancer. Biochemical and Biophysical Research Communications. 198: 74-80. PMID 8292051 DOI: 10.1006/bbrc.1994.1011  1
1994 Fischbeck KH. The mechanism of myotonic dystrophy. Annals of Neurology. 35: 255-6. PMID 8122876 DOI: 10.1002/ana.410350302  1
1994 La Spada AR, Paulson HL, Fischbeck KH. Trinucleotide repeat expansion in neurological disease. Annals of Neurology. 36: 814-22. PMID 7998766 DOI: 10.1002/ana.410360604  1
1994 Bergoffen J, Kant J, Sladky J, McDonald-McGinn D, Zackai EH, Fischbeck KH. Paternal transmission of congenital myotonic dystrophy. Journal of Medical Genetics. 31: 518-20. PMID 7966187  1
1994 Bruzzone R, White TW, Scherer SS, Fischbeck KH, Paul DL. Null mutations of connexin32 in patients with X-linked Charcot-Marie-Tooth disease. Neuron. 13: 1253-60. PMID 7946361 DOI: 10.1016/0896-6273(94)90063-9  1
1994 Cochrane S, Bergoffen J, Fairweather ND, Müller E, Mostacciuolo ML, Monaco AP, Fischbeck KH, Haites NE. X linked Charcot-Marie-Tooth disease (CMTX1): a study of 15 families with 12 highly informative polymorphisms. Journal of Medical Genetics. 31: 193-6. PMID 7912286 DOI: 10.1136/jmg.31.3.193  1
1994 Bergoffen J, Zmijewski CM, Fischbeck KH. Familial autoimmune myasthenia gravis. Neurology. 44: 551-4. PMID 7908425  1
1994 Danek A, Witt TN, Mann K, Schweikert HU, Romalo G, La Spada AR, Fischbeck KH. Decrease in androgen binding and effect of androgen treatment in a case of X-linked bulbospinal neuronopathy. The Clinical Investigator. 72: 892-7. PMID 7894219 DOI: 10.1007/BF00190748  1
1994 Chance PF, Fischbeck KH. Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies. Human Molecular Genetics. 3: 1503-7. PMID 7849745  1
1993 Bergoffen J, Trofatter J, Pericak-Vance MA, Haines JL, Chance PF, Fischbeck KH. Linkage localization of X-linked Charcot-Marie-Tooth disease. American Journal of Human Genetics. 52: 312-8. PMID 8430694  1
1993 Fischbeck KH. Charcot-Marie-Tooth disease type 1A, 9 November 1992, San Francisco, CA, U.S.A. Neuromuscular Disorders : Nmd. 3: 81-2. PMID 8329893 DOI: 10.1016/0960-8966(93)90046-M  1
1993 Bergoffen J, Scherer SS, Wang S, Scott MO, Bone LJ, Paul DL, Chen K, Lensch MW, Chance PF, Fischbeck KH. Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science (New York, N.Y.). 262: 2039-42. PMID 8266101 DOI: 10.1126/science.8266101  1
1993 Roling DB, La Spada AR, Fischbeck KH. Kennedy's disease. Neurology. 43: 2424-5. PMID 8232979  1
1992 Müller B, Dechant C, Meng G, Liechti-Gallati S, Doherty RA, Hejtmancik JF, Bakker E, Read AP, Jeanpierre M, Fischbeck KH. Estimation of the male and female mutation rates in Duchenne muscular dystrophy (DMD). Human Genetics. 89: 204-6. PMID 1587532 DOI: 10.1007/BF00217124  1
1992 Shi YJ, Fischbeck KH, Ritter A. Potential pitfalls in using DNA probes to counsel Duchenne and Becker muscular dystrophy families. Chinese Medical Journal. 105: 469-75. PMID 1451547  1
1992 Warner CL, Griffin JE, Wilson JD, Jacobs LD, Murray KR, Fischbeck KH, Dickoff D, Griggs RC. X-linked spinomuscular atrophy: a kindred with associated abnormal androgen receptor binding. Neurology. 42: 2181-4. PMID 1436532  1
1992 Fischbeck KH, Garbern JY. Facioscapulohumeral muscular dystrophy defect identified. Nature Genetics. 2: 3-4. PMID 1363882 DOI: 10.1038/ng0992-3  1
1992 La Spada AR, Roling DB, Harding AE, Warner CL, Spiegel R, Hausmanowa-Petrusewicz I, Yee WC, Fischbeck KH. Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. Nature Genetics. 2: 301-4. PMID 1303283 DOI: 10.1038/ng1292-301  1
1992 Timmerman V, Nelis E, Van Hui W, Nieuwenhuijsen BW, Chen KL, Wang S, Ben Othman K, Cullen B, Leach RJ, Hanemann CO, De Jonghe P, Raeymaekers P, Van Ommen GJB, Martin JJ, Müller HW, ... ... Fischbeck KH, et al. The peripheral myelin protein gene PMP-22 is contained within the Charcot-marie-tooth disease type 1A duplication Nature Genetics. 1: 171-175. PMID 1303230 DOI: 10.1038/ng0692-171  1
1992 Valentijn LJ, Bolhuis PA, Zorn I, Hoogendijk JE, van den Bosch N, Hensels GW, Stanton VP, Housman DE, Fischbeck KH, Ross DA. The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A. Nature Genetics. 1: 166-70. PMID 1303229 DOI: 10.1038/ng0692-166  1
1992 Nieuwenhuijsen BW, Chen KL, Chinault AC, Wang S, Valmiki VH, Meershoek EJ, van Ommen GJ, Fischbeck KH. A yeast artificial chromosome contig spanning the Charcot-Marie-Tooth disease type 1A duplication region. Human Molecular Genetics. 1: 605-12. PMID 1301169  1
1991 La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature. 352: 77-9. PMID 2062380 DOI: 10.1038/352077a0  1
1991 Fischbeck KH, Souders D, La Spada A. A candidate gene for X-linked spinal muscular atrophy. Advances in Neurology. 56: 209-13. PMID 1853757  1
1991 Driesen MS, Dauwerse JG, Wapenaar MC, Meershoek EJ, Mollevanger P, Chen KL, Fischbeck KH, van Ommen GJ. Generation and fluorescent in situ hybridization mapping of yeast artificial chromosomes of 1p, 17p, 17q, and 19q from a hybrid cell line by high-density screening of an amplified library. Genomics. 11: 1079-87. PMID 1783377 DOI: 10.1016/0888-7543(91)90035-D  1
1991 McGuire SA, Fischbeck KH. Autosomal recessive Duchenne-like muscular dystrophy: molecular and histochemical results. Muscle & Nerve. 14: 1209-12. PMID 1766451 DOI: 10.1002/mus.880141212  1
1991 Weiss BJ, Kamholz J, Ritter A, Zackai EH, McDonald-McGinn DM, Emanuel B, Fischbeck KH. Segmental spinal muscular atrophy and dermatological findings in a patient with chromosome 18q deletion. Annals of Neurology. 30: 419-23. PMID 1719916 DOI: 10.1002/ana.410300316  1
1991 Blonden LAJ, Grootscholten PM, den Dunnen JT, Bakker E, Abbs S, Bobrow M, Boehm C, van Broeckhoven C, Baumbach L, Chamberlain J, Caskey CT, Denton M, Felicetti L, Galluzi G, Fischbeck KH, et al. 242 Breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread Genomics. 10: 631-639. PMID 1679746 DOI: 10.1016/0888-7543(91)90445-K  1
1991 Gutmann DH, Zackai EH, McDonald-McGinn DM, Fischbeck KH, Kamholz J. Oculodentodigital dysplasia syndrome associated with abnormal cerebral white matter. American Journal of Medical Genetics. 41: 18-20. PMID 1659191 DOI: 10.1002/ajmg.1320410106  1
1991 Fischbeck KH. Hereditary myopathy, muscular dystrophy and the myotonias Current Opinion in Neurology and Neurosurgery. 4: 664-667.  1
1990 Gutmann DH, Fischbeck KH, Kamholz J. Complicated hereditary spastic paraparesis with cerebral white matter lesions. American Journal of Medical Genetics. 36: 251-7. PMID 2368815 DOI: 10.1002/ajmg.1320360222  1
1990 Danek A, Witt TN, Stockmann HB, Weiss BJ, Schotland DL, Fischbeck KH. Normal dystrophin in McLeod myopathy. Annals of Neurology. 28: 720-2. PMID 2260862 DOI: 10.1002/ana.410280521  1
1990 Ginjaar IB, Bakker E, den Dunnen JT, Wessels A, van Paassen MM, Kloosterman MD, Zubrzycka-Gaarn EE, Fischbeck KH, Moorman AF, van Ommen GJ. Detection of truncated dystrophin in fetal DMD myotubes. Advances in Experimental Medicine and Biology. 280: 17-23. PMID 2248137  1
1989 Gutmann DH, Fischbeck KH, Sergott RC. Hereditary retinal vasculopathy with cerebral white matter lesions. American Journal of Medical Genetics. 34: 217-20. PMID 2817001 DOI: 10.1002/ajmg.1320340217  1
1989 Gospe SM, Lazaro RP, Lava NS, Grootscholten PM, Scott MO, Fischbeck KH. Familial X-linked myalgia and cramps: a nonprogressive myopathy associated with a deletion in the dystrophin gene. Neurology. 39: 1277-80. PMID 2677830  1
1989 Gutmann DH, Fischbeck KH. Molecular biology of Duchenne and Becker's muscular dystrophy: clinical applications. Annals of Neurology. 26: 189-94. PMID 2673003 DOI: 10.1002/ana.410260202  1
1989 Fischbeck KH. The difference between Duchenne and Becker dystrophies. Neurology. 39: 584-5. PMID 2648189  1
1989 Chen JD, Hejtmancik JF, Romeo G, Lindlof M, Boehm C, Caskey CT, Kress W, Fischbeck KH, Dreier M, Serravalle S. A genetic linkage map of five marker loci in and around the Duchenne muscular dystrophy locus. Genomics. 4: 105-9. PMID 2563349 DOI: 10.1016/0888-7543(89)90322-4  1
1988 Cooper BJ, Winand NJ, Stedman H, Valentine BA, Hoffman EP, Kunkel LM, Scott MO, Fischbeck KH, Kornegay JN, Avery RJ. The homologue of the Duchenne locus is defective in X-linked muscular dystrophy of dogs. Nature. 334: 154-6. PMID 3290691 DOI: 10.1038/334154a0  1
1988 Hoffman EP, Fischbeck KH, Brown RH, Johnson M, Medori R, Loike JD, Harris JB, Waterston R, Brooke M, Specht L. Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy. The New England Journal of Medicine. 318: 1363-8. PMID 3285207 DOI: 10.1056/NEJM198805263182104  1
1988 Scott MO, Sylvester JE, Heiman-Patterson T, Shi YJ, Fieles W, Stedman H, Burghes A, Ray P, Worton R, Fischbeck KH. Duchenne muscular dystrophy gene expression in normal and diseased human muscle. Science (New York, N.Y.). 239: 1418-20. PMID 2450401  1
1987 Dove J, Gruemer HD, Miller WG, Prior T, Fischbeck KH, Ritter AW, Francke U, Darras BT, Mosteller RD. Prenatal diagnosis of Duchenne's muscular dystrophy New England Journal of Medicine. 317: 1097-1098. PMID 3477694  1
1987 Fischbeck KH. Bulbospinal muscular atrophy Neurology. 37: 1887.  1
1986 Fischbeck KH, Ionasescu V, Ritter AW, Ionasescu R, Davies K, Ball S, Bosch P, Burns T, Hausmanowa-Petrusewicz I, Borkowska J. Localization of the gene for X-linked spinal muscular atrophy. Neurology. 36: 1595-8. PMID 3466055  1
1986 Fischbeck KH, ar-Rushdi N, Pericak-Vance M, Rozear M, Roses AD, Fryns JP. X-linked neuropathy: gene localization with DNA probes. Annals of Neurology. 20: 527-32. PMID 3024556 DOI: 10.1002/ana.410200414  1
1986 Fischbeck KH, Ritter AW, Tirschwell DL, Kunkel LM, Bertelson CJ, Monaco AP, Hejtmancik JF, Boehm C, Ionasescu V, Ionasescu R. Recombination with pERT87 (DXS164) in families with X-linked muscular dystrophy. Lancet. 2: 104. PMID 2873362 DOI: 10.1016/S0140-6736(86)91634-X  1
1985 Sirken SM, Fischbeck KH. Freeze-fracture studies of denervated and tenotomized rat muscle. Journal of Neuropathology and Experimental Neurology. 44: 147-55. PMID 3973635  1
1985 Monaco AP, Bertelson CJ, Middlesworth W, Colletti CA, Aldridge J, Fischbeck KH, Bartlett R, Pericak-Vance MA, Roses AD, Kunkel LM. Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. Nature. 316: 842-5. PMID 2993910 DOI: 10.1038/316842a0  1
1984 Fischbeck KH. Effects of ATP depletion and protein synthesis inhibition on muscle plasma membrane orthogonal arrays. Experimental Neurology. 83: 577-88. PMID 6698159 DOI: 10.1016/0014-4886(84)90125-0  1
1984 Fischbeck KH, Bonilla E, Schotland DL. Distribution of freeze-fracture particle sizes in Duchenne muscle plasma membrane. Neurology. 34: 534-5. PMID 6538312  0.96
1984 Fischbeck KH, Bonilla E, Schotland DL. Distribution of freeze-fracture particle sizes in duchenne muscle plasma membrane Neurology. 34: 534-535.  1
1983 Fischbeck KH, Miller AE, Utermohlen V. Immunosuppression for multiple sclerosis New England Journal of Medicine. 309: 239-241. PMID 6866042  1
1983 Fischbeck KH, Schotland DL. Variability of X-linked muscular dystrophy. Annals of Neurology. 13: 217. PMID 6830187 DOI: 10.1002/ana.410130225  1
1983 Bonilla E, Fischbeck KH, Schotland DL. Freeze-fracture study of muscle plasma membrane in obligate carriers of Duchenne muscular dystrophy. Neurology. 33: 1346-7. PMID 6684233  1
1983 Fischbeck KH, Bonilla E, Schotland DL. Freeze-fracture analysis of plasma membrane cholesterol in Duchenne muscle. Annals of Neurology. 13: 532-5. PMID 6681514 DOI: 10.1002/ana.410130510  1
1982 Bradley WG, Bank WO, Fischbeck KH. Sneeze-induced hemiparesis from unruptured intracranial aneurysm. Journal of Neuroradiology. Journal De Neuroradiologie. 9: 323-7. PMID 7161632  1
1982 Fischbeck KH, Bonilla E, Schotland DL. Freeze-fracture analysis of plasma membrane cholesterol in fast- and slow-twitch muscles. Journal of Ultrastructure Research. 81: 117-23. PMID 7143534 DOI: 10.1016/S0022-5320(82)90045-4  1
1982 Fischbeck KH, Bonilla E, Schotland DL. Freeze-fracture characterization of 'young' and 'old' human erythrocytes. Biochimica Et Biophysica Acta. 685: 207-10. PMID 7059602 DOI: 10.1016/0005-2736(82)90100-6  1
1982 Fischbeck KH, Bradley WG, Bank WO. Sneeze-induced hemiparesis. Annals of Neurology. 11: 105-6. PMID 7059125 DOI: 10.1002/ana.410110121  1
1981 Fischbeck KH, Simon RP. Neurological manifestations of accidental hypothermia. Annals of Neurology. 10: 384-7. PMID 7316491 DOI: 10.1002/ana.410100411  1
1981 Risk WS, Bosch EP, Kimura J, Cancilla PA, Fischbeck KH, Layzer RB. Chronic tetanus: clinical report and histochemistry of muscle. Muscle & Nerve. 4: 363-6. PMID 7290102 DOI: 10.1002/mus.880040502  1
1981 Schotland DL, Bonilla E, Fischbeck KH. Erythrocyte membrane studies: Reply from the authors Neurology. 31: 1371.  1
1976 Letinsky MS, Fischbeck KH, McMahan UJ. Precision of reinnervation of original postsynaptic sites in frog muscle after a nerve crush. Journal of Neurocytology. 5: 691-718. PMID 1087337 DOI: 10.1007/BF01181582  1
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