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Kenneth Fischbeck

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Kenneth H Fischbeck
A role for androgen reduction treatment in kennedy disease?
Martin R Turner; Robert Bowser; Lucie Bruijn; Luc Dupuis; Albert Ludolph; Giovanni Manfredi; Nicholas J Maragakis; Michael McGrath; Robert G Miller; Seth L Pullman; Seward B Rutkove; Pamela J Shaw; Jeremy Shefner; Kenneth H Fischbeck
Mechanisms, models and biomarkers in amyotrophic lateral sclerosis.
David R Lynch; Kristy Miller; Joanne Odenkirchen; Massimo Pandolfo; R Mark Payne; Susan Perlman; Subha V Raman; Jorg B Schulz; Robert Shaddy; Martin B Delatycki; Jennifer Farmer; Kenneth H Fischbeck; Lisa Hunegs; Paul Kantor; Petra Kaufmann
Common data elements for clinical research in Friedreich's ataxia.

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All Publications

2013: Kenneth H Fischbeck
A role for androgen reduction treatment in kennedy disease?
Muscle & nerve 2013;47(6):789.
2013: Martin R Turner; Robert Bowser; Lucie Bruijn; Luc Dupuis; Albert Ludolph; Giovanni Manfredi; Nicholas J Maragakis; Michael McGrath; Robert G Miller; Seth L Pullman; Seward B Rutkove; Pamela J Shaw; Jeremy Shefner; Kenneth H Fischbeck
Mechanisms, models and biomarkers in amyotrophic lateral sclerosis.
Amyotrophic lateral sclerosis & frontotemporal degeneration 2013;14 Suppl 1():19-32.
2013: David R Lynch; Kristy Miller; Joanne Odenkirchen; Massimo Pandolfo; R Mark Payne; Susan Perlman; Subha V Raman; Jorg B Schulz; Robert Shaddy; Martin B Delatycki; Jennifer Farmer; Kenneth H Fischbeck; Lisa Hunegs; Paul Kantor; Petra Kaufmann
Common data elements for clinical research in Friedreich's ataxia.
Movement disorders : official journal of the Movement Disorder Society 2013;28(2):190-5.
2013: Guida Landouré; Madani Ly; Katherine Meilleur; Fanny Mochel; Modibo Sangaré; Amadou M Sarr; Mahamadou Touré; Moussa Traoré; Hamidou O Bâ; Koumba Bagayoko; Nouhoum Bocoum; Souleymane Coulibaly; Thomas Coulibaly; Cheick O Guinto; Kenneth H Fischbeck
Novel mutation in the ATM gene in a Malian family with ataxia telangiectasia.
Journal of neurology 2013;260(1):324-6.
2013: Aimée Vester; Stephan Zuchner; Asim Beg; Leslie G Biesecker; Kenneth H Fischbeck; James R Lupski; Heather M McLaughlin; Garth Nicholson; Ricardo H Roda; Kevin Talbot; Jeffery Vance; Gisselle Velez-Ruiz; Anthony Antonellis
A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo.
Human mutation 2013;34(1):191-9.
2012: Carlo Rinaldi; Alice Schindler; Irina F Sevrioukova; Massimo Zeviani; Leslie G Biesecker; Carsten G Bönnemann; Barrington G Burnett; Daniele Ghezzi; Christopher Grunseich; Iren Horkayne-Szakaly; Marina L Kennerson; Costanza Lamperti; Guida Landouré; Kenneth H Fischbeck
Cowchock syndrome is associated with a mutation in apoptosis-inducing factor.
American journal of human genetics 2012;91(6):1095-102.
2012: Kenneth H Fischbeck
Developing treatment for spinal and bulbar muscular atrophy.
Progress in neurobiology 2012;99(3):257-61.
2012: Katherine V Bricceno; Kenneth H Fischbeck; Paul J Sampognaro; CHARLOTTE SUMNER; James P Van Meerbeke; Barrington Burnett
Histone deacetylase inhibition suppresses myogenin-dependent atrogene activation in spinal muscular atrophy mice.
Human molecular genetics 2012;21(20):4448-59.
2012: Guida Landouré; Carlo Rinaldi; Yijun Shi; Horia Stanescu; Addis A Taye; Bryan Joseph Traynor; Angela Vincent; Nick Willcox; Oumarou Diallo; Abdel Elkahloun; Kenneth H Fischbeck; Dena Hernandez; Janel O Johnson; Robert Kleta; Melanie A Knight; Leslie G Biesecker; Barrington Burnett
A candidate gene for autoimmune myasthenia gravis.
Neurology 2012;79(4):342-7.
2012: Guida Landouré; Christy L Ludlow; Clare H Munns; Yijun Shi; Jeremy M Sullivan; Barrington Burnett; Oumarou Diallo; Kenneth H Fischbeck; Rachelle Gaudet; J Raphael Gibbs; Janel O Johnson; Bryan J Traynor; CHARLOTTE SUMNER
Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family.
Neurology 2012;79(2):192-4.
2012: Carlo Rinaldi; Gen Sobue; Laura C Bott; KL Chen; George G Harmison; Masahisa Katsuno; Maria Pennuto; Kenneth H Fischbeck
Insulinlike growth factor (IGF)-1 administration ameliorates disease manifestations in a mouse model of spinal and bulbar muscular atrophy.
Molecular medicine (Cambridge, Mass.) 2012;18():1261-8.
2012: Katherine V Bricceno; Kenneth H Fischbeck; Barrington Burnett
Neurogenic and myogenic contributions to hereditary motor neuron disease.
Neuro-degenerative diseases 2012;9(4):199-209.
2011: William W Motley; Mir Hussain Nawaz; Kevin Seburn; Kevin Talbot; Xiang-Lei Yang; Jun Cheng; Kenneth H Fischbeck; Eric D Green; Kathy E Miers; Anthony Antonellis; Robert W Burgess
Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels.
PLoS genetics 2011;7(12):e1002399.
2011: Kenneth H Fischbeck
Past, present, and future of polyglutamine expansion disease.
Rinshō shinkeigaku = Clinical neurology 2011;51(11):825.
2011: M Traoré; T Coulibaly; C O Guinto; M Karambé; Alison La Pean; G Landouré; K G Meilleur; Fanny Mochel; M Sangaré; Kenneth H Fischbeck
Clinical and genetic analysis of spinocerebellar ataxia in Mali.
European journal of neurology : the official journal of the European Federation of Neurological Societies 2011;18(10):1269-71.
2011: Deborah Y Kwon; William W Motley; Kenneth H Fischbeck; Barrington Burnett
Increasing expression and decreasing degradation of SMN ameliorate the spinal muscular atrophy phenotype in mice.
Human molecular genetics 2011;20(18):3667-77.
2011: M Zimoń; A Niemann; J Pilch; A B Schindler; U Suter; Vincent Timmerman; Dagmara Kabzinska; Andrzej Kochanski; Michaela Auer-Grumbach; J Baets; David R Cornblath; Peter De Jonghe; Els De Vriendt; G M Fabrizi; Kenneth H Fischbeck; Christian Guelly; Irena Hausmanowa-Petrusewicz; N Huber; E Jaakkola; Albena Jordanova
Dominant GDAP1 mutations cause predominantly mild CMT phenotypes.
Neurology 2011;77(6):540-8.
2011: Kenneth H Fischbeck; Stef pulst
Amyotrophic lateral sclerosis and spinocerebellar ataxia 2.
Neurology 2011;76(24):2050-1.
2011: Lindsay E Fernández-Rhodes; Angela D Kokkinis; Michelle J White; Charlotte A Watts; Sungyoung Auh; Neal O Jeffries; Joseph A Shrader; TJ Lehky; Li Li; Jennifer E Ryder; Ellen W Levy; Beth I Solomon; Michael Harris-Love; Alison La Pean; Alice B Schindler; Cheunju Chen; Nicholas A Di Prospero; Kenneth H Fischbeck
Efficacy and safety of dutasteride in patients with spinal and bulbar muscular atrophy: a randomised placebo-controlled trial.
Lancet neurology 2011;10(2):140-7.
2010: Srikanth Ranganathan; Kenneth H Fischbeck
Therapeutic approaches to spinal and bulbar muscular atrophy.
Trends in pharmacological sciences 2010;31(11):523-7.
2010: Isabella Palazzolo; Natalia B Nedelsky; Caitlin E Askew; George G Harmison; Aleksey G Kasantsev; J. Paul Taylor; Kenneth H Fischbeck; Maria Pennuto
B2 attenuates polyglutamine-expanded androgen receptor toxicity in cell and fly models of spinal and bulbar muscular atrophy.
Journal of neuroscience research 2010;88(10):2207-16.
2010: K G Meilleur; M Traoré; M Sangaré; A Britton; G Landouré; S Coulibaly; B Niaré; Fanny Mochel; Alison La Pean; I Rafferty; C Watts; D Shriner; Marguerite T Littleton-Kearney; Craig Blackstone; Andrew Singleton; Kenneth H Fischbeck
Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19.
Neurogenetics 2010;11(3):313-8.
2010: Magdalena Zimoń; Jonathan Baets; Michaela Auer-Grumbach; José Berciano; Antonio Garcia; Eduardo Lopez-Laso; Luciano Merlini; David Hilton-Jones; Meriel McEntagart; Andrew H Crosby; Nina Barisic; Eugen Boltshauser; Christopher E Shaw; Guida Landouré; Christy L Ludlow; Rachelle Gaudet; Henry Houlden; Mary M Reilly; Kenneth H Fischbeck; CHARLOTTE SUMNER; Vincent Timmerman; Albena Jordanova; Peter De Jonghe
Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies.
Brain : a journal of neurology 2010;133(Pt 6):1798-809.
2010: William W Motley; Kevin Talbot; Kenneth H Fischbeck
GARS axonopathy: not every neuron's cup of tRNA.
Trends in neurosciences 2010;33(2):59-66.
2010: Guida Landouré; Anselm A Zdebik; Tara L Martinez; Barrington Burnett; Horia C Stanescu; Hitoshi Inada; Yijun Shi; Addis A Taye; Lingling Kong; Clare H Munns; Shelly S Choo; Christopher Phelps; Reema Paudel; Henry Houlden; Christy L Ludlow; Michael J Caterina; Rachelle Gaudet; Robert Kleta; Kenneth H Fischbeck; CHARLOTTE SUMNER
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.
Nature genetics 2010;42(2):170-4.
2009: Lindsay E Rhodes; Brandi K Freeman; Sungyoung Auh; Angela D Kokkinis; Alison La Pean; Cheunju Chen; TJ Lehky; Joseph A Shrader; Ellen W Levy; Michael Harris-Love; Nicholas A Di Prospero; Kenneth H Fischbeck
Clinical features of spinal and bulbar muscular atrophy.
Brain : a journal of neurology 2009;132(Pt 12):3242-51.
2009: TJ Lehky; Cheun Ju Chen; Nicholas A Di Prospero; Lindsay E Rhodes; Kenneth H Fischbeck; Mary Kay Floeter
Standard and modified statistical MUNE evaluations in spinal-bulbar muscular atrophy.
Muscle & nerve 2009;40(5):809-14.
2009: M Traoré; G Landouré; W Motley; M Sangaré; K Meilleur; S Coulibaly; Sékou F Traoré; B Niaré; F Mochel; A La Pean; A Vortmeyer; H Mani; Kenneth H Fischbeck
Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease.
Neurogenetics 2009;10(4):319-23.
2009: Isabella Palazzolo; Conor Stack; Lingling Kong; Antonio Musaro; Hiroaki Adachi; Masahisa Katsuno; Gen Sobue; J. Paul Taylor; CHARLOTTE SUMNER; Kenneth H Fischbeck; Maria Pennuto
Overexpression of IGF-1 in muscle attenuates disease in a mouse model of spinal and bulbar muscular atrophy.
Neuron 2009;63(3):316-28.
2009: Jörg B Schulz; Nicholas A Di Prospero; Kenneth H Fischbeck
Clinical experience with high-dose idebenone in Friedreich ataxia.
Journal of neurology 2009;256 Suppl 1():42-5.
2009: Barrington Burnett; Eric Muñoz; Animesh Tandon; Deborah Y Kwon; CHARLOTTE SUMNER; Kenneth H Fischbeck
Regulation of SMN protein stability.
Molecular and cellular biology 2009;29(5):1107-15.
2009: Jessica E Young; Gwenn A Garden; Refugio A Martinez; Fumiaki Tanaka; C Miguel Sandoval; Annette C Smith; Bryce L Sopher; Amy Lin; Kenneth H Fischbeck; Lisa M Ellerby; Richard S Morrison; J. Paul Taylor; Albert R La Spada
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 2009;29(7):1987-97.
2009: Kenneth H Fischbeck; Wilson W Bryan
Anti-androgen treatment for spinal and bulbar muscular atrophy.
Annals of neurology 2009;65(2):119-20.
2009: Srikanth Ranganathan; George G Harmison; Kristin Meyertholen; Maria Pennuto; Barrington Burnett; Kenneth H Fischbeck
Mitochondrial abnormalities in spinal and bulbar muscular atrophy.
Human molecular genetics 2009;18(1):27-42.
2008: Melanie A Knight; Dena Hernandez; Scott John Diede; Hans G Dauwerse; Ian Rafferty; Joyce van de Leemput; Susan M Forrest; R J McKinlay Gardner; Elsdon Storey; Gert-Jan B van Ommen; Stephen J Tapscott; Kenneth H Fischbeck; Andrew Singleton
A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20.
Human molecular genetics 2008;17(24):3847-53.
2008: Barrington Burnett; Jaime Andrews; Srikanth Ranganathan; Kenneth H Fischbeck; Nicholas A Di Prospero
Expression of expanded polyglutamine targets profilin for degradation and alters actin dynamics.
Neurobiology of disease 2008;30(3):365-74.
2008: Fanny Mochel; Melanie A Knight; Wing-Hang Tong; Dena Hernandez; Karen Ayyad; Tanja Taivassalo; Peter M Andersen; Andrew Singleton; Tracey A Rouault; Kenneth H Fischbeck; Ronald G Haller
Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance.
American journal of human genetics 2008;82(3):652-60.
2007: Nicholas A Di Prospero; Angela Baker; Neal Jeffries; Kenneth H Fischbeck
Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial.
Lancet neurology 2007;6(10):878-86.
2007: Isabella Palazzolo; Barrington Burnett; Jessica E Young; Phebe L Brenne; Albert R La Spada; Kenneth H Fischbeck; Brian Howell; Maria Pennuto
Akt blocks ligand binding and protects against expanded polyglutamine androgen receptor toxicity.
Human molecular genetics 2007;16(13):1593-603.
2007: Nicholas A Di Prospero; CHARLOTTE SUMNER; Scott R Penzak; Bernard Ravina; Kenneth H Fischbeck; J. Paul Taylor
Safety, tolerability, and pharmacokinetics of high-dose idebenone in patients with Friedreich ataxia.
Archives of neurology 2007;64(6):803-8.
2007: Amy M Avila; Barrington Burnett; Addis A Taye; Francesca Gabanella; Melanie A Knight; Parvana Hartenstein; Ziga Cizman; Nicholas A Di Prospero; Livio Pellizzoni; Kenneth H Fischbeck; CHARLOTTE SUMNER
Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy.
The Journal of clinical investigation 2007;117(3):659-71.
2006: Anthony Antonellis; Shih-Queen Lee-Lin; Amy Wasterlain; Paul Leo; Martha Quezado; Lev G Goldfarb; Kyungjae Myung; Shawn Burgess; Kenneth H Fischbeck; Eric Green
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 2006;26(41):10397-406.
2006: Linda Jo Bone Jeng; Rita J Balice-Gordon; Albee Messing; Kenneth H Fischbeck; Steven S Scherer
The effects of a dominant connexin32 mutant in myelinating Schwann cells.
Molecular and cellular neurosciences 2006;32(3):283-98.
2006: CHARLOTTE SUMNER; Stephen J Kolb; George G Harmison; Neal Jeffries; K Schadt; R S Finkel; Gideon Dreyfuss; Kenneth H Fischbeck
SMN mRNA and protein levels in peripheral blood: biomarkers for SMA clinical trials.
Neurology 2006;66(7):1067-73.
2006: Jennifer R Levy; CHARLOTTE SUMNER; Juliane P Caviston; Mariko Tokito; Srikanth Ranganathan; Lee A Ligon; Karen E Wallace; Bernadette H LaMonte; George G Harmison; Imke Puls; Kenneth H Fischbeck; Erika L F Holzbaur
A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation.
The Journal of cell biology 2006;172(5):733-45.
2006: Stephen J Kolb; Amelie K Gubitz; Robert F Olszewski; Elizabeth Ottinger; CHARLOTTE SUMNER; Kenneth H Fischbeck; Gideon Dreyfuss
A novel cell immunoassay to measure survival of motor neurons protein in blood cells.
BMC neurology 2006;6():6.
2005: Nicholas A Di Prospero; Kenneth H Fischbeck
Therapeutics development for triplet repeat expansion diseases.
Nature reviews. Genetics 2005;6(10):756-65.
2005: Kumaraswamy Sivakumar; Theodoros Kyriakides; Imke Puls; Garth A Nicholson; Benoît Funalot; Anthony Antonellis; Nyamkhishig Sambuughin; Kyproula Christodoulou; John L Beggs; Eleni Zamba-Papanicolaou; Victor Ionasescu; Marinos C Dalakas; Eric Green; Kenneth H Fischbeck; Lev G Goldfarb
Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.
Brain : a journal of neurology 2005;128(Pt 10):2304-14.
2005: Imke Puls; Shin J Oh; CHARLOTTE SUMNER; Karen E Wallace; Mary Kay Floeter; Eric A Mann; William R Kennedy; Gwen Wendelschafer-Crabb; Alexander O Vortmeyer; Richard Powers; Kimberly Finnegan; Erika L F Holzbaur; Kenneth H Fischbeck; Christy Ludlow
Distal spinal and bulbar muscular atrophy caused by dynactin mutation.
Annals of neurology 2005;57(5):687-94.
2005: Grace S Lin Liang; Marta de Miguel; Juan M Gómez-Hernández; Jonathan D Glass; Steven S Scherer; Mark Mintz; Luis C Barrio; Kenneth H Fischbeck
Severe neuropathy with leaky connexin32 hemichannels.
Annals of neurology 2005;57(5):749-54.
2005: Lauren E Kernochan; Melissa L Russo; Nathaniel S Woodling; Thanh N Huynh; Amy M Avila; Kenneth H Fischbeck; CHARLOTTE SUMNER
The role of histone acetylation in SMN gene expression.
Human molecular genetics 2005;14(9):1171-82.
2005: Sub H Subramony; Warren May; D Lynch; C Gomez; Kenneth H Fischbeck; Mark Hallett; J. Paul Taylor; R Wilson; T Ashizawa
Measuring Friedreich ataxia: Interrater reliability of a neurologic rating scale.
Neurology 2005;64(7):1261-2.
2005: Steven S Scherer; Yi-Tian Xu; Albee Messing; Klaus Willecke; Kenneth H Fischbeck; Linda Jo Bone Jeng
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 2005;25(6):1550-9.
2005: D S Verbeek; M A Knight; George G Harmison; Kenneth H Fischbeck; Brian Howell
Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting.
Brain : a journal of neurology 2005;128(Pt 2):436-42.
2004: Ying-Zhang Chen; Craig L Bennett; Huy M Huynh; Ian P Blair; Imke Puls; Joy Irobi; Ines Dierick; Annette Abel; Marina L Kennerson; Bruce A Rabin; Garth A Nicholson; Michaela Auer-Grumbach; Klaus Wagner; Peter De Jonghe; John W Griffin; Kenneth H Fischbeck; Vincent Timmerman; David R Cornblath; Phillip F Chance
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).
American journal of human genetics 2004;74(6):1128-35.
2004: Nancy S Wexler; Judith Lorimer; Julie Porter; Fidela Gomez; Carol Moskowitz; Edith Shackell; Karen Marder; Graciela Penchaszadeh; Simone A Roberts; Javier Gayán; Denise Brocklebank; Stacey Cherny; Lon R Cardon; Jacqueline Gray; Stephen R Dlouhy; Sandra Wiktorski; Marion E Hodes; P Michael Conneally; Jack B Penney; James Gusella; Jang-Ho Cha; Michael C Irizarry; Diana Rosas; Steven M Hersch; Zane Hollingsworth; Marcy E MacDonald; Anne B Young; J Michael Andresen; David E Housman; Margot Mieja De Young; Ernesto Bonilla; Theresa Stillings; Americo Negrette; S Robert Snodgrass; Maria Dolores Martinez-Jaurrieta; Maria A Ramos-Arroyo; Jacqueline Bickham; Juan Sanchez Ramos; Frederick John Marshall; Ira Shoulson; Gustavo J Rey; Andrew Feigin; Norman Arnheim; Amarilis Acevedo-Cruz; Leticia Acosta; Jose Alvir; Kenneth H Fischbeck; Leslie M Thompson; Angela Young; Leon Dure; Christopher J O'Brien; Jane S Paulsen; Adam Brickman; Denise Krch; Shelley Peery; Penelope Hogarth; Donald S Higgins; Bernhard Landwehrmeyer
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 2004;101(10):3498-503.
2004: Federica Piccioni; Benjamin R Roman; Kenneth H Fischbeck; J. Paul Taylor
A screen for drugs that protect against the cytotoxicity of polyglutamine-expanded androgen receptor.
Human molecular genetics 2004;13(4):437-46.
2004: Jennifer A Markowitz; Mindy B Tinkle; Kenneth H Fischbeck
Spinal muscular atrophy in the neonate.
Journal of obstetric, gynecologic, and neonatal nursing : JOGNN / NAACOG 2004;33(1):12-20.
2003: CHARLOTTE SUMNER; Thanh N Huynh; Jennifer A Markowitz; J Stephen Perhac; Brenna Hill; Daniel D Coovert; Kristie Schussler; Xiaocun Chen; Jill Jarecki; Arthur H M Burghes; J. Paul Taylor; Kenneth H Fischbeck
Valproic acid increases SMN levels in spinal muscular atrophy patient cells.
Annals of neurology 2003;54(5):647-54.
2003: J. Paul Taylor; Addis A Taye; Catherine Campbell; Parsa Kazemi-Esfarjani; Kenneth H Fischbeck; Kyung-Tai Min
Aberrant histone acetylation, altered transcription, and retinal degeneration in a Drosophila model of polyglutamine disease are rescued by CREB-binding protein.
Genes & development 2003;17(12):1463-8.
2003: Anthony Antonellis; Rachel E Ellsworth; Nyamkhishig Sambuughin; Imke Puls; Annette Abel; Shih-Queen Lee-Lin; Albena Jordanova; Ivo Kremensky; Kyproula Christodoulou; Lefkos T Middleton; Kumaraswamy Sivakumar; Victor Ionasescu; Benoît Funalot; Jeffery Vance; Lev G Goldfarb; Kenneth H Fischbeck; Eric Green
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.
American journal of human genetics 2003;72(5):1293-9.
2003: J. Paul Taylor; Fumiaki Tanaka; Jon Robitschek; C Miguel Sandoval; Addis A Taye; Silva Markovic-Plese; Kenneth H Fischbeck
Aggresomes protect cells by enhancing the degradation of toxic polyglutamine-containing protein.
Human molecular genetics 2003;12(7):749-57.
2003: Imke Puls; Catherine Jonnakuty; Bernadette H LaMonte; Erika L F Holzbaur; Mariko Tokito; Eric Mann; Mary Kay Floeter; Kimberly Bidus; Dennis Drayna; Shin J Oh; Robert H Brown; Christy Ludlow; Kenneth H Fischbeck
Mutant dynactin in motor neuron disease.
Nature genetics 2003;33(4):455-6.
2002: CHARLOTTE SUMNER; Kenneth H Fischbeck
Jaw drop in Kennedy's disease.
Neurology 2002;59(9):1471-2.
2002: Henry L Paulson; James Y Garbern; Timothy F Hoban; Karen M Krajewski; Richard Alan Lewis; Kenneth H Fischbeck; Robert I Grossman; Robert E Lenkinski; John Kamholz; chris hall
Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease.
Annals of neurology 2002;52(4):429-34.
2002: Andrew P Lieberman; George G Harmison; Andrew D Strand; James M Olson; Kenneth H Fischbeck
Altered transcriptional regulation in cells expressing the expanded polyglutamine androgen receptor.
Human molecular genetics 2002;11(17):1967-76.
2002: J. Paul Taylor; John Hardy; Kenneth H Fischbeck
Toxic proteins in neurodegenerative disease.
Science (New York, N.Y.) 2002;296(5575):1991-5.
2002: J. Paul Taylor; Kenneth H Fischbeck
Altered acetylation in polyglutamine disease: an opportunity for therapeutic intervention?
Trends in molecular medicine 2002;8(5):195-7.
2002: Hajime Hara; Patrick M Nolan; Marion O Scott; Maja Bucan; Yoshihiro Wakayama; Kenneth H Fischbeck
Running endurance abnormality in mdx mice.
Muscle & nerve 2002;25(2):207-11.
2001: A McCampbell; Addis A Taye; L Whitty; E Penney; Joan S Steffan; Kenneth H Fischbeck
Histone deacetylase inhibitors reduce polyglutamine toxicity.
Proceedings of the National Academy of Sciences of the United States of America 2001;98(26):15179-84.
2001: Kenneth H Fischbeck
Polyglutamine expansion neurodegenerative disease.
Brain research bulletin 2001;56(3-4):161-3.
2001: Imke Puls; Andrew P Lieberman; Kenneth H Fischbeck
Impact of the human genome sequence on neurology and neuroscience.
Archives of neurology 2001;58(11):1750-1.
2001: Kathryn R Wagner; S Hamed; Donald W Hadley; Andrea Gropman; AH Burstein; Diana Escolar; Eric Hoffman; Kenneth H Fischbeck
Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations.
Annals of neurology 2001;49(6):706-11.
2001: A McCampbell; Kenneth H Fischbeck
Polyglutamine and CBP: fatal attraction?
Nature medicine 2001;7(5):528-30.
2001: Andrew P Lieberman; Imke Puls; Kenneth H Fischbeck
Mining the genome for causes and cures of neurological disease.
Trends in pharmacological sciences 2001;22(4):161-2.
2001: Andrew P Lieberman; D L Friedlich; George G Harmison; Brian Howell; Cynthia L Jordan; S Marc Breedlove; Kenneth H Fischbeck
Androgens regulate the mammalian homologues of invertebrate sex determination genes tra-2 and fox-1.
Biochemical and biophysical research communications 2001;282(2):499-506.
2000: Ian P Blair; Craig L Bennett; Annette Abel; B A Rabin; John W Griffin; Kenneth H Fischbeck; David R Cornblath; Phillip F Chance
A gene for autosomal dominant juvenile amyotrophic lateral sclerosis (ALS4) localizes to a 500-kb interval on chromosome 9q34.
Neurogenetics 2000;3(1):1-6.
2000: A McCampbell; J. Paul Taylor; Addis A Taye; Jon Robitschek; M Li; J Walcott; Diane E Merry; Y Chai; Henry L Paulson; G Sobue; Kenneth H Fischbeck
CREB-binding protein sequestration by expanded polyglutamine.
Human molecular genetics 2000;9(14):2197-202.
2000: Andrew P Lieberman; Kenneth H Fischbeck
Triplet repeat expansion in neuromuscular disease.
Muscle & nerve 2000;23(6):843-50.
2000: Robert B Wilson; David R Lynch; Jennifer M Farmer; David G Brooks; Kenneth H Fischbeck
Increased serum transferrin receptor concentrations in Friedreich ataxia.
Annals of neurology 2000;47(5):659-61.
2000: Mireille Cossée; Hélène Puccio; Anne Gansmuller; Hana Koutnikova; Andrée Dierich; Marianne LeMeur; Kenneth H Fischbeck; Pascal Dollé; Michel Koenig
Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation.
Human molecular genetics 2000;9(8):1219-26.
1999: G S Lin; Jonathan D Glass; Susan Shumas; Steven S Scherer; Kenneth H Fischbeck
A unique mutation in connexin32 associated with severe, early onset CMTX in a heterozygous female.
Annals of the New York Academy of Sciences 1999;883():481-4.
1999: Kenneth H Fischbeck; Annette Abel; G S Lin; Steven S Scherer
X-linked Charcot-Marie-Tooth disease and connexin32.
Annals of the New York Academy of Sciences 1999;883():36-41.
1999: Andrew P Lieberman; John Q Trojanowski; Debra G B Leonard; KL Chen; J L Barnett; James B Leverenz; Thomas D Bird; Y Robitaille; A Malandrini; Kenneth H Fischbeck
Ataxin 1 and ataxin 3 in neuronal intranuclear inclusion disease.
Annals of neurology 1999;46(2):271-3.
1999: Annette Abel; LJ Bone; A Messing; Steven S Scherer; Kenneth H Fischbeck
Studies in transgenic mice indicate a loss of connexin32 function in X-linked Charcot-Marie-Tooth disease.
Journal of neuropathology and experimental neurology 1999;58(7):702-10.
1999: Kenneth H Fischbeck; Andrew P Lieberman; Christine K Bailey; Annette Abel; Diane E Merry
Androgen receptor mutation in Kennedy's disease.
Philosophical transactions of the Royal Society of London. Series B, Biological sciences 1999;354(1386):1075-8.
1999: Georgios M Hadjigeorgiou; S H Kim; Kenneth H Fischbeck; Antoni L Andreu; G T Berry; P Bingham; Sara Shanske; Eduardo Bonilla; Salvatore DiMauro
A new mitochondrial DNA mutation (A3288G) in the tRNA(Leu(UUR)) gene associated with familial myopathy.
Journal of the neurological sciences 1999;164(2):153-7.
1999: S S Scherer; Kenneth H Fischbeck
Is CMTX an axonopathy?
Neurology 1999;52(2):432-3.
1999: Steven S Scherer; LJ Bone; SM Deschênes; Annette Abel; Rita J Balice-Gordon; Kenneth H Fischbeck
The role of the gap junction protein connexin32 in the pathogenesis of X-linked Charcot-Marie-Tooth disease.
Novartis Foundation symposium 1999;219():175-85; discussion 185-7.
1998: Mei Li; Yuji Nakagomi; Yasuna Kobayashi; Diane E Merry; Fumiaki Tanaka; Manabu Doyu; Terunori Mitsuma; Yoshio Hashizume; Kenneth H Fischbeck; Gen Sobue
Nonneural nuclear inclusions of androgen receptor protein in spinal and bulbar muscular atrophy.
The American journal of pathology 1998;153(3):695-701.
1998: Steven S Scherer; Yi-Tian Xu; E Nelles; Kenneth H Fischbeck; Klaus Willecke; LJ Bone
Connexin32-null mice develop demyelinating peripheral neuropathy.
Glia 1998;24(1):8-20.
1998: Mei Li; S Miwa; Yasuna Kobayashi; Diane E Merry; Masayuki Yamamoto; Fumiaki Tanaka; Manabu Doyu; Yoshio Hashizume; Kenneth H Fischbeck; Gen Sobue
Nuclear inclusions of the androgen receptor protein in spinal and bulbar muscular atrophy.
Annals of neurology 1998;44(2):249-54.
1998: Robert B Wilson; David R Lynch; Kenneth H Fischbeck
Normal serum iron and ferritin concentrations in patients with Friedreich's ataxia.
Annals of neurology 1998;44(1):132-4.
1998: John M Warrick; Henry L Paulson; GL Gray-Board; Quang T Bui; Kenneth H Fischbeck; Randall N Pittman; Nancy M Bonini
Expanded polyglutamine protein forms nuclear inclusions and causes neural degeneration in Drosophila.
Cell 1998;93(6):939-49.
1998: Albert R La Spada; Kenneth R Peterson; S A Meadows; M E McClain; G Jeng; Renée S Chmelar; H A Haugen; K Chen; MJ Singer; D Moore; Barbara J Trask; Kenneth H Fischbeck; CH Clegg; G S McKnight
Androgen receptor YAC transgenic mice carrying CAG 45 alleles show trinucleotide repeat instability.
Human molecular genetics 1998;7(6):959-67.
1998: Diane E Merry; Y Kobayashi; Christine K Bailey; Addis A Taye; Kenneth H Fischbeck
Cleavage, aggregation and toxicity of the expanded androgen receptor in spinal and bulbar muscular atrophy.
Human molecular genetics 1998;7(4):693-701.
1998: Andrew P Lieberman; Y Robitaille; John Q Trojanowski; dennis dickson; Kenneth H Fischbeck
Polyglutamine-containing aggregates in neuronal intranuclear inclusion disease.
Lancet 1998;351(9106):884.
1998: B P Brooks; Diane E Merry; Henry L Paulson; Andrew P Lieberman; Dennis L Kolson; Kenneth H Fischbeck
A cell culture model for androgen effects in motor neurons.
Journal of neurochemistry 1998;70(3):1054-60.
1998: L G Gouw; M A Castañeda; C K McKenna; Kathleen B Digre; Stef pulst; S Perlman; M S Lee; C Gomez; Kenneth H Fischbeck; D Gagnon; E Storey; Thomas D Bird; F R Jeri; Louis J Ptácek
Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission.
Human molecular genetics 1998;7(3):525-32.
1997: SM Deschênes; J L Walcott; T L Wexler; Steven S Scherer; Kenneth H Fischbeck
Altered trafficking of mutant connexin32.
The Journal of neuroscience : the official journal of the Society for Neuroscience 1997;17(23):9077-84.
1997: Henry L Paulson; MK Perez; Y Trottier; John Q Trojanowski; S H Subramony; S S Das; P J S Vig; J L Mandel; Kenneth H Fischbeck; Randall N Pittman
Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3.
Neuron 1997;19(2):333-44.
1997: David R Lynch; H Hara; Sabrina W Yum; Phillip F Chance; Steven S Scherer; Shawn J Bird; Kenneth H Fischbeck
Autosomal dominant transmission of Dejerine-Sottas disease (HMSN III).
Neurology 1997;49(2):601-3.
1997: Kenneth H Fischbeck
Kennedy disease.
Journal of inherited metabolic disease 1997;20(2):152-8.
1997: Kinji Ohno; PA Quiram; Margherita Milone; Hai-Long Wang; M C Harper; Jerry N Pruitt; Joan M Brengman; L Pao; Kenneth H Fischbeck; Thomas Crawford; Steven M Sine; Andrew G Engel
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 1997;6(5):753-66.
1997: Henry L Paulson; S S Das; Peter B Crino; MK Perez; S C Patel; D Gotsdiner; Kenneth H Fischbeck; Randall N Pittman
Machado-Joseph disease gene product is a cytoplasmic protein widely expressed in brain.
Annals of neurology 1997;41(4):453-62.
1997: LJ Bone; SM Deschênes; Rita J Balice-Gordon; Kenneth H Fischbeck; Steven S Scherer
Connexin32 and X-linked Charcot-Marie-Tooth disease.
Neurobiology of disease 1997;4(3-4):221-30.
1997: B P Brooks; Henry L Paulson; Diane E Merry; E F Salazar-Grueso; A O Brinkmann; Elizabeth M Wilson; Kenneth H Fischbeck
Characterization of an expanded glutamine repeat androgen receptor in a neuronal cell culture system.
Neurobiology of disease 1997;3(4):313-23.
1996: BT Koshy; T Matilla; Eric Burright; D E Merry; Kenneth H Fischbeck; Harry T Orr; Huda Y Zoghbi
Spinocerebellar ataxia type-1 and spinobulbar muscular atrophy gene products interact with glyceraldehyde-3-phosphate dehydrogenase.
Human molecular genetics 1996;5(9):1311-8.
1996: Fumiaki Tanaka; Manabu Doyu; Yasushi Ito; M Matsumoto; Terunori Mitsuma; K Abe; M Aoki; Y Itoyama; Kenneth H Fischbeck; Gen Sobue
Founder effect in spinal and bulbar muscular atrophy (SBMA).
Human molecular genetics 1996;5(9):1253-7.
1996: Kenneth H Fischbeck; S M Deschênes; LJ Bone; Steven S Scherer
Connexin32 and X-linked Charcot-Marie-Tooth disease.
Cold Spring Harbor symposia on quantitative biology 1996;61():673-7.
1996: Henry L Paulson; Kenneth H Fischbeck
Trinucleotide repeats in neurogenetic disorders.
Annual review of neuroscience 1996;19():79-107.
1996: R Spiegel; Albert R La Spada; W Kress; Kenneth H Fischbeck; W Schmid
Somatic stability of the expanded CAG trinucleotide repeat in X-linked spinal and bulbar muscular atrophy.
Human mutation 1996;8(1):32-7.
1995: Steven S Scherer; S M Deschênes; Yi-Tian Xu; Judith B Grinspan; Kenneth H Fischbeck; D L Paul
Connexin32 is a myelin-related protein in the PNS and CNS.
The Journal of neuroscience : the official journal of the Society for Neuroscience 1995;15(12):8281-94.
1995: B P Brooks; Kenneth H Fischbeck
Spinal and bulbar muscular atrophy: a trinucleotide-repeat expansion neurodegenerative disease.
Trends in neurosciences 1995;18(10):459-61.
1995: J M Priest; Kenneth H Fischbeck; N Nouri; Bronya J B Keats
A locus for axonal motor-sensory neuropathy with deafness and mental retardation maps to Xq24-q26.
Genomics 1995;29(2):409-12.
1995: Kenneth H Fischbeck
The expanded trinucleotide repeat in Kennedy's disease.
Proceedings of the Association of American Physicians 1995;107(2):228-30.
1995: David R Lynch; D M McDonald-McGinn; E H Zackai; Beverly S Emanuel; Deborah A Driscoll; L A Whitaker; Kenneth H Fischbeck
Cerebellar atrophy in a patient with velocardiofacial syndrome.
Journal of medical genetics 1995;32(7):561-3.
1995: Margaret Pericak-Vance; David Barker; J A Bergoffen; Phillip F Chance; S Cochrane; N Dahl; M C Exler; P R Fain; N D Fairweather; Kenneth H Fischbeck
Consortium fine localization of X-linked Charcot-Marie-Tooth disease (CMTX1): additional support that connexin32 is the defect in CMTX1.
Human heredity 1995;45(3):121-8.
1995: Lin Zhang; Kenneth H Fischbeck; Norman Arnheim
CAG repeat length variation in sperm from a patient with Kennedy's disease.
Human molecular genetics 1995;4(2):303-5.
1995: Peter M Bingham; M O Scott; S Wang; M J McPhaul; Elizabeth M Wilson; James Y Garbern; D E Merry; Kenneth H Fischbeck
Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice.
Nature genetics 1995;9(2):191-6.
1994: Albert R La Spada; Henry L Paulson; Kenneth H Fischbeck
Trinucleotide repeat expansion in neurological disease.
Annals of neurology 1994;36(6):814-22.
1994: Roberto Bruzzone; Thomas W White; S S Scherer; Kenneth H Fischbeck; David L Paul
Null mutations of connexin32 in patients with X-linked Charcot-Marie-Tooth disease.
Neuron 1994;13(5):1253-60.
1994: Adrian Danek; T N Witt; Klaus Mann; Hans-Udo Schweikert; Gabriela Romalo; Albert R La Spada; Kenneth H Fischbeck
Decrease in androgen binding and effect of androgen treatment in a case of X-linked bulbospinal neuronopathy.
The Clinical investigator 1994;72(11):892-7.
1994: J Bergoffen; J Kant; J Sladky; D McDonald-McGinn; E H Zackai; Kenneth H Fischbeck
Paternal transmission of congenital myotonic dystrophy.
Journal of medical genetics 1994;31(7):518-20.
1994: Kenneth H Fischbeck
The mechanism of myotonic dystrophy.
Annals of neurology 1994;35(3):255-6.
1994: S Cochrane; J Bergoffen; N D Fairweather; E Müller; M L Mostacciuolo; Anthony P Monaco; Kenneth H Fischbeck; Neva E Haites
X linked Charcot-Marie-Tooth disease (CMTX1): a study of 15 families with 12 highly informative polymorphisms.
Journal of medical genetics 1994;31(3):193-6.
1994: J Bergoffen; C M Zmijewski; Kenneth H Fischbeck
Familial autoimmune myasthenia gravis.
Neurology 1994;44(3 Pt 1):551-4.
1994: Mark P Schoenberg; J M Hakimi; S Wang; G Steven Bova; Jonathan I Epstein; Kenneth H Fischbeck; William B Isaacs; Patrick C Walsh; Evelyn Barrack
Microsatellite mutation (CAG24-->18) in the androgen receptor gene in human prostate cancer.
Biochemical and biophysical research communications 1994;198(1):74-80.
1994: Phillip F Chance; Kenneth H Fischbeck
Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies.
Human molecular genetics 1994;3 Spec No():1503-7.
1993: J Bergoffen; Steven S Scherer; S Wang; M O Scott; LJ Bone; D L Paul; K Chen; M W Lensch; Phillip F Chance; Kenneth H Fischbeck
Connexin mutations in X-linked Charcot-Marie-Tooth disease.
Science (New York, N.Y.) 1993;262(5142):2039-42.
1993: D B Roling; Albert R La Spada; Kenneth H Fischbeck
Kennedy's disease.
Neurology 1993;43(11):2424-5.
1993: J Bergoffen; J Trofatter; Margaret Pericak-Vance; Jonathan L Haines; Phillip F Chance; Kenneth H Fischbeck
Linkage localization of X-linked Charcot-Marie-Tooth disease.
American journal of human genetics 1993;52(2):312-8.
1993: Kenneth H Fischbeck
Charcot-Marie-Tooth disease type 1A, 9 November 1992, San Francisco, CA, U.S.A.
Neuromuscular disorders : NMD 1993;3(1):81-2.
1992: Albert R La Spada; D B Roling; A E Harding; C L Warner; R Spiegel; I Hausmanowa-Petrusewicz; W C Yee; Kenneth H Fischbeck
Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy.
Nature genetics 1992;2(4):301-4.
1992: C L Warner; J E Griffin; J D Wilson; L D Jacobs; K R Murray; Kenneth H Fischbeck; D Dickoff; R C Griggs
X-linked spinomuscular atrophy: a kindred with associated abnormal androgen receptor binding.
Neurology 1992;42(11):2181-4.
1992: B W Nieuwenhuijsen; KL Chen; A C Chinault; S Wang; V H Valmiki; E J Meershoek; Gert-Jan B van Ommen; Kenneth H Fischbeck
A yeast artificial chromosome contig spanning the Charcot-Marie-Tooth disease type 1A duplication region.
Human molecular genetics 1992;1(8):605-12.
1992: Kenneth H Fischbeck; James Y Garbern
Facioscapulohumeral muscular dystrophy defect identified.
Nature genetics 1992;2(1):3-4.
1992: Y J Shi; Kenneth H Fischbeck; A Ritter
Potential pitfalls in using DNA probes to counsel Duchenne and Becker muscular dystrophy families.
Chinese medical journal 1992;105(6):469-75.
1992: Linda J Valentijn; PA Bolhuis; I Zorn; Jessica E Hoogendijk; N van den Bosch; G W Hensels; V P Stanton; D E Housman; Kenneth H Fischbeck; D A Ross
The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A.
Nature genetics 1992;1(3):166-70.
1992: B Müller; C Dechant; G Meng; S Liechti-Gallati; R A Doherty; J Fielding Hejtmancik; Egbert Bakker; A P Read; Marc Jeanpierre; Kenneth H Fischbeck
Estimation of the male and female mutation rates in Duchenne muscular dystrophy (DMD).
Human genetics 1992;89(2):204-6.
1991: M S Driesen; J G Dauwerse; M C Wapenaar; E J Meershoek; Paul Mollevanger; KL Chen; Kenneth H Fischbeck; Gert-Jan B van Ommen
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 1991;11(4):1079-87.
1991: S A McGuire; Kenneth H Fischbeck
Autosomal recessive Duchenne-like muscular dystrophy: molecular and histochemical results.
Muscle & nerve 1991;14(12):1209-12.
1991: David H Gutmann; E H Zackai; D M McDonald-McGinn; Kenneth H Fischbeck; John Kamholz
Oculodentodigital dysplasia syndrome associated with abnormal cerebral white matter.
American journal of medical genetics 1991;41(1):18-20.
1991: B J Weiss; John Kamholz; A Ritter; E H Zackai; D M McDonald-McGinn; B Emanuel; Kenneth H Fischbeck
Segmental spinal muscular atrophy and dermatological findings in a patient with chromosome 18q deletion.
Annals of neurology 1991;30(3):419-23.
1991: Albert R La Spada; Elizabeth M Wilson; D B Lubahn; A E Harding; Kenneth H Fischbeck
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy.
Nature 1991;352(6330):77-9.
1991: Jeffery Vance; D Barker; LH Yamaoka; Jeffrey M Stajich; L Loprest; Wu-Yen Hung; Kenneth H Fischbeck; Allen D Roses; Margaret Pericak-Vance
Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2.
Genomics 1991;9(4):623-8.
1991: Kenneth H Fischbeck; D Souders; Albert R La Spada
A candidate gene for X-linked spinal muscular atrophy.
Advances in neurology 1991;56():209-13.
1990: Adrian Danek; T N Witt; H B Stockmann; B J Weiss; D L Schotland; Kenneth H Fischbeck
Normal dystrophin in McLeod myopathy.
Annals of neurology 1990;28(5):720-2.
1990: David H Gutmann; Kenneth H Fischbeck; John Kamholz
Complicated hereditary spastic paraparesis with cerebral white matter lesions.
American journal of medical genetics 1990;36(2):251-7.
1990: I B Ginjaar; Egbert Bakker; Johan T den Dunnen; Andy Wessels; M M van Paassen; M D Kloosterman; E E Zubrzycka-Gaarn; Kenneth H Fischbeck; Antoon F M Moorman; Gert-Jan B van Ommen
Detection of truncated dystrophin in fetal DMD myotubes.
Advances in experimental medicine and biology 1990;280():17-23.
1989: David H Gutmann; Kenneth H Fischbeck; Robert Sergott
Hereditary retinal vasculopathy with cerebral white matter lesions.
American journal of medical genetics 1989;34(2):217-20.
1989: Sidney M Gospe; R P Lazaro; N S Lava; P M Grootscholten; M O Scott; Kenneth H Fischbeck
Familial X-linked myalgia and cramps: a nonprogressive myopathy associated with a deletion in the dystrophin gene.
Neurology 1989;39(10):1277-80.
1989: David H Gutmann; Kenneth H Fischbeck
Molecular biology of Duchenne and Becker's muscular dystrophy: clinical applications.
Annals of neurology 1989;26(2):189-94.
1989: Kenneth H Fischbeck
The difference between Duchenne and Becker dystrophies.
Neurology 1989;39(4):584-5.
1989: J D Chen; J Fielding Hejtmancik; Giovanni Romeo; M Lindlof; Corinne D Boehm; C T Caskey; W Kress; Kenneth H Fischbeck; M Dreier; S Serravalle
A genetic linkage map of five marker loci in and around the Duchenne muscular dystrophy locus.
Genomics 1989;4(1):105-9.
1988: Barry J Cooper; N J Winand; H Stedman; Beth A Valentine; Eric Hoffman; Louis Kunkel; M O Scott; Kenneth H Fischbeck; Joe Kornegay; Roger J Avery
The homologue of the Duchenne locus is defective in X-linked muscular dystrophy of dogs.
Nature 1988;334(6178):154-6.
1988: Eric Hoffman; Kenneth H Fischbeck; R H Brown; M Johnson; R Medori; J D Loike; J B Harris; R Waterston; M Brooke; L Specht
Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy.
The New England journal of medicine 1988;318(21):1363-8.
1988: M O Scott; J E Sylvester; Terry D Heiman-Patterson; Y J Shi; W Fieles; H Stedman; Arthur H M Burghes; P Ray; R Worton; Kenneth H Fischbeck
Duchenne muscular dystrophy gene expression in normal and diseased human muscle.
Science (New York, N.Y.) 1988;239(4846):1418-20.
1988: H Stedman; K Browning; N Oliver; M Oronzi-Scott; Kenneth H Fischbeck; S Sarkar; J Sylvester; R Schmickel; K Wang
Nebulin cDNAs detect a 25-kilobase transcript in skeletal muscle and localize to human chromosome 2.
Genomics 1988;2(1):1-7.
1987: M P Rozear; Margaret Pericak-Vance; Kenneth H Fischbeck; Jeffrey M Stajich; Perry C Gaskell; D A Krendel; D G Graham; D V Dawson; Allen D Roses
Hereditary motor and sensory neuropathy, X-linked: a half century follow-up.
Neurology 1987;37(9):1460-5.
1987: S Kenwrick; M Patterson; A Speer; Kenneth H Fischbeck; K Davies
Molecular analysis of the Duchenne muscular dystrophy region using pulsed field gel electrophoresis.
Cell 1987;48(2):351-7.
1986: Kenneth H Fischbeck; V Ionasescu; A W Ritter; R Ionasescu; K Davies; S Ball; P Bosch; T Burns; Irena Hausmanowa-Petrusewicz; Janina Borkowska
Localization of the gene for X-linked spinal muscular atrophy.
Neurology 1986;36(12):1595-8.
1986: C J Bertelson; J A Bartley; Anthony P Monaco; C Colletti-Feener; Kenneth H Fischbeck; Louis Kunkel
Localisation of Xp21 meiotic exchange points in Duchenne muscular dystrophy families.
Journal of medical genetics 1986;23(6):531-7.
1986: Kenneth H Fischbeck; N ar-Rushdi; Margaret Pericak-Vance; M Rozear; Allen D Roses; J P Fryns
X-linked neuropathy: gene localization with DNA probes.
Annals of neurology 1986;20(4):527-32.
1986: Kenneth H Fischbeck; A W Ritter; D L Tirschwell; Louis Kunkel; C J Bertelson; Anthony P Monaco; J Fielding Hejtmancik; Corinne D Boehm; V Ionasescu; R Ionasescu
Recombination with pERT87 (DXS164) in families with X-linked muscular dystrophy.
Lancet 1986;2(8498):104.
1986: Louis Kunkel; J Fielding Hejtmancik; C T Caskey; Astrid Speer; Anthony P Monaco; W Middlesworth; C A Colletti; C Bertelson; U Müller; M Bresnan; F Shapiro; U Tantravahi; J Speer; S A Latt; R Bartlett; Margaret Pericak-Vance; Allen D Roses; M W Thompson; P N Ray; R G Worton; Kenneth H Fischbeck; Pía Gallano; M Coulon; C Duros; J Boue; Claudine Junien; Jamel Chelly; G Hamard; Marc Jeanpierre; M Lambert; Jean-Claude Kaplan; A Emery; H Dorkins; S McGlade; Kay E Davies; Corinne D Boehm; B Arveiler; C Lemaire; G J Morgan; M J Denton; J Amos; Martin Bobrow; F Benham; E Boswinkel; C Cole; Victor Dubowitz; K Hart; S Hodgson; L Johnson; A Walker; L Roncuzzi; Alessandra Ferlini; C Nobile; Giovanni Romeo; D E Wilcox; N A Affara; M A Ferguson-Smith; M Lindolf; H Kaariainen; A de la Chapelle; V Ionasescu; Charles C Searby; R Ionasescu; Egbert Bakker; Gert-Jan B van Ommen; P L Pearson; Cheryl R Greenberg; J L Hamerton; Klaus Wrogemann; R A Doherty; R Polakowska; C Hyser; S Quirk; N Thomas; Jeffrey F Harper; B T Darras; U Francke
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy.
Nature 1986;322(6074):73-7.
1985: Anthony P Monaco; C J Bertelson; W Middlesworth; C A Colletti; J Aldridge; Kenneth H Fischbeck; R Bartlett; Margaret Pericak-Vance; Allen D Roses; Louis Kunkel
Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment.
Nature 1985;316(6031):842-5.
1985: S M Sirken; Kenneth H Fischbeck
Freeze-fracture studies of denervated and tenotomized rat muscle.
Journal of neuropathology and experimental neurology 1985;44(2):147-55.
1984: Kenneth H Fischbeck; E Bonilla; D L Schotland
Distribution of freeze-fracture particle sizes in Duchenne muscle plasma membrane.
Neurology 1984;34(4):534-5.
1984: Kenneth H Fischbeck
Effects of ATP depletion and protein synthesis inhibition on muscle plasma membrane orthogonal arrays.
Experimental neurology 1984;83(3):577-88.
1983: E Bonilla; Kenneth H Fischbeck; D L Schotland
Freeze-fracture study of muscle plasma membrane in obligate carriers of Duchenne muscular dystrophy.
Neurology 1983;33(10):1346-7.
1983: Kenneth H Fischbeck; E Bonilla; D L Schotland
Freeze-fracture analysis of plasma membrane cholesterol in Duchenne muscle.
Annals of neurology 1983;13(5):532-5.
1983: Kenneth H Fischbeck; D L Schotland
Variability of X-linked muscular dystrophy.
Annals of neurology 1983;13(2):217.
1982: Kenneth H Fischbeck; E Bonilla; D L Schotland
Freeze-fracture analysis of plasma membrane cholesterol in fast- and slow-twitch muscles.
Journal of ultrastructure research 1982;81(1):117-23.
1982: Kenneth H Fischbeck; E Bonilla; D L Schotland
Freeze-fracture characterization of 'young' and 'old' human erythrocytes.
Biochimica et biophysica acta 1982;685(2):207-10.
1982: Walter G Bradley; W O Bank; Kenneth H Fischbeck
Sneeze-induced hemiparesis from unruptured intracranial aneurysm.
Journal of neuroradiology. Journal de neuroradiologie 1982;9(4):323-7.
1982: Kenneth H Fischbeck; Walter G Bradley; W O Bank
Sneeze-induced hemiparesis.
Annals of neurology 1982;11(1):105-6.
1981: Kenneth H Fischbeck; Roger P. Simon
Neurological manifestations of accidental hypothermia.
Annals of neurology 1981;10(4):384-7.
1981: W S Risk; E P Bosch; J Kimura; P A Cancilla; Kenneth H Fischbeck; R B Layzer
Chronic tetanus: clinical report and histochemistry of muscle.
Muscle & nerve 1981;4(5):363-6.
1981: E Bonilla; Kenneth H Fischbeck; D L Schotland
Freeze-fracture studies of muscle caveolae in human muscular dystrophy.
The American journal of pathology 1981;104(2):167-73.
1980: Kenneth H Fischbeck; M Mata; R D'Aquisto; J J Caronna
Brompton mixture taken intravenously by a heroin addict.
The Western journal of medicine 1980;133(1):80.
1979: Kenneth H Fischbeck; R B Layzer
Paroxysmal choreoathetosis associated with thyrotosicosis.
Annals of neurology 1979;6(5):453-4.
1977: W R Leahy; K V Toyka; Kenneth H Fischbeck
Cerebral abscess in children secondary to esophageal dilatation.
Pediatrics 1977;59(2):300-1.
1976: M S Letinsky; Kenneth H Fischbeck; U J McMahan
Precision of reinnervation of original postsynaptic sites in frog muscle after a nerve crush.
Journal of neurocytology 1976;5(6):691-718.