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Kenneth Fischbeck

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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Publications

TOP 3
Lehky Tanya J; Chen Cheun Ju; di Prospero Nicholas A; Rhodes Lindsay E; Fischbeck Kenneth; Floeter Mary Kay
Standard and modified statistical MUNE evaluations in spinal-bulbar muscular atrophy.
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 K H
Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease.
Palazzolo Isabella; Stack Conor; Kong Lingling; Musaro Antonio; Adachi Hiroaki; Katsuno Masahisa; Sobue Gen; Taylor J Paul; Sumner Charlotte J; Fischbeck Kenneth H; Pennuto Maria
Overexpression of IGF-1 in muscle attenuates disease in a mouse model of spinal and bulbar muscular atrophy.

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All Publications

2009: Lehky Tanya J; Chen Cheun Ju; di Prospero Nicholas A; Rhodes Lindsay E; Fischbeck Kenneth; Floeter Mary Kay
Standard and modified statistical MUNE evaluations in spinal-bulbar muscular atrophy.
Muscle & nerve 2009;40(5):809-14.
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 K H
Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease.
Neurogenetics 2009;10(4):319-23.
2009: Palazzolo Isabella; Stack Conor; Kong Lingling; Musaro Antonio; Adachi Hiroaki; Katsuno Masahisa; Sobue Gen; Taylor J Paul; Sumner Charlotte J; Fischbeck Kenneth H; Pennuto Maria
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: Schulz Jörg B; Di Prospero Nicholas A; Fischbeck Kenneth
Clinical experience with high-dose idebenone in Friedreich ataxia.
Journal of neurology 2009;256 Suppl 1():42-5.
2009: Burnett Barrington G; Muñoz Eric; Tandon Animesh; Kwon Deborah Y; Sumner Charlotte J; Fischbeck Kenneth H
Regulation of SMN protein stability.
Molecular and cellular biology 2009;29(5):1107-15.
2009: Fischbeck Kenneth H; Bryan Wilson W
Anti-androgen treatment for spinal and bulbar muscular atrophy.
Annals of neurology 2009;65(2):119-20.
2009: Young Jessica E; Garden Gwenn A; Martinez Refugio A; Tanaka Fumiaki; Sandoval C Miguel; Smith Annette C; Sopher Bryce L; Lin Amy; Fischbeck Kenneth H; Ellerby Lisa M; Morrison Richard S; Taylor J Paul; La Spada Albert R
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: Ranganathan Srikanth; Harmison George G; Meyertholen Kristin; Pennuto Maria; Burnett Barrington G; Fischbeck Kenneth H
Mitochondrial abnormalities in spinal and bulbar muscular atrophy.
Human molecular genetics 2009;18(1):27-42.
2008: Knight Melanie A; Hernandez Dena; Diede Scott J; Dauwerse Hans G; Rafferty Ian; van de Leemput Joyce; Forrest Susan M; Gardner R J McKinlay; Storey Elsdon; van Ommen Gert-Jan B; Tapscott Stephen J; Fischbeck Kenneth H; Singleton Andrew B
A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20.
Human molecular genetics 2008;17(24):3847-53.
2008: Burnett Barrington G; Andrews Jaime; Ranganathan Srikanth; Fischbeck Kenneth H; Di Prospero Nicholas A
Expression of expanded polyglutamine targets profilin for degradation and alters actin dynamics.
Neurobiology of disease 2008;30(3):365-74.
2008: Mochel Fanny; Knight Melanie A; Tong Wing-Hang; Hernandez Dena; Ayyad Karen; Taivassalo Tanja; Andersen Peter M; Singleton Andrew; Rouault Tracey A; Fischbeck Kenneth H; Haller Ronald G
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: Di Prospero Nicholas A; Baker Angela; Jeffries Neal; Fischbeck Kenneth H
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: Palazzolo Isabella; Burnett Barrington G; Young Jessica E; Brenne Phebe L; La Spada Albert R; Fischbeck Kenneth H; Howell Brian W; Pennuto Maria
Akt blocks ligand binding and protects against expanded polyglutamine androgen receptor toxicity.
Human molecular genetics 2007;16(13):1593-603.
2007: Di Prospero Nicholas A; Sumner Charlotte J; Penzak Scott R; Ravina Bernard; Fischbeck Kenneth H; Taylor J Paul
Safety, tolerability, and pharmacokinetics of high-dose idebenone in patients with Friedreich ataxia.
Archives of neurology 2007;64(6):803-8.
2007: Avila Amy M; Burnett Barrington G; Taye Addis A; Gabanella Francesca; Knight Melanie A; Hartenstein Parvana; Cizman Ziga; Di Prospero Nicholas A; Pellizzoni Livio; Fischbeck Kenneth H; Sumner Charlotte J
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: Antonellis Anthony; Lee-Lin Shih-Queen; Wasterlain Amy; Leo Paul; Quezado Martha; Goldfarb Lev G; Myung Kyungjae; Burgess Shawn; Fischbeck Kenneth H; Green Eric D
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: Jeng Linda Jo Bone; Balice-Gordon Rita J; Messing Albee; Fischbeck Kenneth H; Scherer Steven S
The effects of a dominant connexin32 mutant in myelinating Schwann cells.
Molecular and cellular neurosciences 2006;32(3):283-98.
2006: Sumner C J; Kolb S J; Harmison G G; Jeffries N O; Schadt K; Finkel R S; Dreyfuss G; Fischbeck K H
SMN mRNA and protein levels in peripheral blood: biomarkers for SMA clinical trials.
Neurology 2006;66(7):1067-73.
2006: Levy Jennifer R; Sumner Charlotte J; Caviston Juliane P; Tokito Mariko K; Ranganathan Srikanth; Ligon Lee A; Wallace Karen E; LaMonte Bernadette H; Harmison George G; Puls Imke; Fischbeck Kenneth H; Holzbaur Erika L F
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: Kolb Stephen J; Gubitz Amelie K; Olszewski Robert F; Ottinger Elizabeth; Sumner Charlotte J; Fischbeck Kenneth H; Dreyfuss Gideon
A novel cell immunoassay to measure survival of motor neurons protein in blood cells.
BMC neurology 2006;6():6.
2005: Di Prospero Nicholas A; Fischbeck Kenneth H
Therapeutics development for triplet repeat expansion diseases.
Nature reviews. Genetics 2005;6(10):756-65.
2005: Sivakumar Kumaraswamy; Kyriakides Theodoros; Puls Imke; Nicholson Garth A; Funalot Benoît; Antonellis Anthony; Sambuughin Nyamkhishig; Christodoulou Kyproula; Beggs John L; Zamba-Papanicolaou Eleni; Ionasescu Victor; Dalakas Marinos C; Green Eric D; Fischbeck Kenneth H; Goldfarb Lev G
Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.
Brain : a journal of neurology 2005;128(Pt 10):2304-14.
2005: Puls Imke; Oh Shin J; Sumner Charlotte J; Wallace Karen E; Floeter Mary Kay; Mann Eric A; Kennedy William R; Wendelschafer-Crabb Gwen; Vortmeyer Alexander; Powers Richard; Finnegan Kimberly; Holzbaur Erika L F; Fischbeck Kenneth H; Ludlow Christy L
Distal spinal and bulbar muscular atrophy caused by dynactin mutation.
Annals of neurology 2005;57(5):687-94.
2005: Liang Grace S Lin; de Miguel Marta; Gómez-Hernández Juan M; Glass Jonathan D; Scherer Steven S; Mintz Mark; Barrio Luis C; Fischbeck Kenneth H
Severe neuropathy with leaky connexin32 hemichannels.
Annals of neurology 2005;57(5):749-54.
2005: Kernochan Lauren E; Russo Melissa L; Woodling Nathaniel S; Huynh Thanh N; Avila Amy M; Fischbeck Kenneth H; Sumner Charlotte J
The role of histone acetylation in SMN gene expression.
Human molecular genetics 2005;14(9):1171-82.
2005: Subramony S H; 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 2005;64(7):1261-2.
2005: Scherer Steven S; Xu Yi-Tian; Messing Albee; Willecke Klaus; Fischbeck Kenneth H; Jeng Linda Jo Bone
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: Verbeek D S; Knight M A; Harmison G G; Fischbeck K H; Howell B W
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: Chen Ying-Zhang; Bennett Craig L; Huynh Huy M; Blair Ian P; Puls Imke; Irobi Joy; Dierick Ines; Abel Annette; Kennerson Marina L; Rabin Bruce A; Nicholson Garth A; Auer-Grumbach Michaela; Wagner Klaus; De Jonghe Peter; Griffin John W; Fischbeck Kenneth H; Timmerman Vincent; Cornblath David R; Chance Phillip F
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: Wexler Nancy S; Lorimer Judith; Porter Julie; Gomez Fidela; Moskowitz Carol; Shackell Edith; Marder Karen; Penchaszadeh Graciela; Roberts Simone A; Gayán Javier; Brocklebank Denise; Cherny Stacey S; Cardon Lon R; Gray Jacqueline; Dlouhy Stephen R; Wiktorski Sandra; Hodes Marion E; Conneally P Michael; Penney Jack B; Gusella James; Cha Jang-Ho; Irizarry Michael; Rosas Diana; Hersch Steven; Hollingsworth Zane; MacDonald Marcy; Young Anne B; Andresen J Michael; Housman David E; De Young Margot Mieja; Bonilla Ernesto; Stillings Theresa; Negrette Americo; Snodgrass S Robert; Martinez-Jaurrieta Maria Dolores; Ramos-Arroyo Maria A; Bickham Jacqueline; Ramos Juan Sanchez; Marshall Frederick; Shoulson Ira; Rey Gustavo J; Feigin Andrew; Arnheim Norman; Acevedo-Cruz Amarilis; Acosta Leticia; Alvir Jose; Fischbeck Kenneth; Thompson Leslie M; Young Angela; Dure Leon; O'Brien Christopher J; Paulsen Jane; Brickman Adam; Krch Denise; Peery Shelley; Hogarth Penelope; Higgins Donald S; Landwehrmeyer Bernhard;
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: Piccioni Federica; Roman Benjamin R; Fischbeck Kenneth H; Taylor J Paul
A screen for drugs that protect against the cytotoxicity of polyglutamine-expanded androgen receptor.
Human molecular genetics 2004;13(4):437-46.
2004: Markowitz Jennifer A; Tinkle Mindy B; Fischbeck Kenneth H
Spinal muscular atrophy in the neonate.
Journal of obstetric, gynecologic, and neonatal nursing : JOGNN / NAACOG 2004;33(1):12-20.
2003: Sumner Charlotte J; Huynh Thanh N; Markowitz Jennifer A; Perhac J Stephen; Hill Brenna; Coovert Daniel D; Schussler Kristie; Chen Xiaocun; Jarecki Jill; Burghes Arthur H M; Taylor J Paul; Fischbeck Kenneth H
Valproic acid increases SMN levels in spinal muscular atrophy patient cells.
Annals of neurology 2003;54(5):647-54.
2003: Taylor J Paul; Taye Addis A; Campbell Catherine; Kazemi-Esfarjani Parsa; Fischbeck Kenneth H; Min Kyung-Tai
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: Antonellis Anthony; Ellsworth Rachel E; Sambuughin Nyamkhishig; Puls Imke; Abel Annette; Lee-Lin Shih-Queen; Jordanova Albena; Kremensky Ivo; Christodoulou Kyproula; Middleton Lefkos T; Sivakumar Kumaraswamy; Ionasescu Victor; Funalot Benoit; Vance Jeffery M; Goldfarb Lev G; Fischbeck Kenneth H; Green Eric D
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: Taylor J Paul; Tanaka Fumiaki; Robitschek Jon; Sandoval C Miguel; Taye Addis; Markovic-Plese Silva; Fischbeck Kenneth H
Aggresomes protect cells by enhancing the degradation of toxic polyglutamine-containing protein.
Human molecular genetics 2003;12(7):749-57.
2003: Puls Imke; Jonnakuty Catherine; LaMonte Bernadette H; Holzbaur Erika L F; Tokito Mariko; Mann Eric; Floeter Mary Kay; Bidus Kimberly; Drayna Dennis; Oh Shin J; Brown Robert H; Ludlow Christy L; Fischbeck Kenneth H
Mutant dynactin in motor neuron disease.
Nature genetics 2003;33(4):455-6.
2002: Sumner Charlotte J; Fischbeck Kenneth H
Jaw drop in Kennedy's disease.
Neurology 2002;59(9):1471-2.
2002: Paulson Henry L; Garbern James Y; Hoban Timothy F; Krajewski Karen M; Lewis Richard A; Fischbeck Kenneth H; Grossman Robert I; Lenkinski Robert; Kamholz John A; Shy Michael E
Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease.
Annals of neurology 2002;52(4):429-34.
2002: Lieberman Andrew P; Harmison George; Strand Andrew D; Olson James M; Fischbeck Kenneth H
Altered transcriptional regulation in cells expressing the expanded polyglutamine androgen receptor.
Human molecular genetics 2002;11(17):1967-76.
2002: Taylor J Paul; Hardy John; Fischbeck Kenneth H
Toxic proteins in neurodegenerative disease.
Science (New York, N.Y.) 2002;296(5575):1991-5.
2002: Taylor J Paul; Fischbeck Kenneth H
Altered acetylation in polyglutamine disease: an opportunity for therapeutic intervention?
Trends in molecular medicine 2002;8(5):195-7.
2002: Hara Hajime; Nolan Patrick M; Scott Marion O; Bucan Maja; Wakayama Yoshihiro; Fischbeck Kenneth H
Running endurance abnormality in mdx mice.
Muscle & nerve 2002;25(2):207-11.
2001: McCampbell A; Taye A A; Whitty L; Penney E; Steffan J S; Fischbeck K H
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: Puls I; Lieberman A P; Fischbeck K H
Impact of the human genome sequence on neurology and neuroscience.
Archives of neurology 2001;58(11):1750-1.
2001: Fischbeck K H
Polyglutamine expansion neurodegenerative disease.
Brain research bulletin 2001;56(3-4):161-3.
2001: Wagner K R; Hamed S; Hadley D W; Gropman A L; Burstein A H; Escolar D M; Hoffman E P; Fischbeck K H
Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations.
Annals of neurology 2001;49(6):706-11.
2001: McCampbell A; Fischbeck K H
Polyglutamine and CBP: fatal attraction?
Nature medicine 2001;7(5):528-30.
2001: Lieberman A P; Puls I; Fischbeck K H
Mining the genome for causes and cures of neurological disease.
Trends in pharmacological sciences 2001;22(4):161-2.
2001: Lieberman A P; Friedlich D L; Harmison G; Howell B W; Jordan C L; Breedlove S M; Fischbeck K H
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: Blair I P; Bennett C L; Abel A; Rabin B A; Griffin J W; Fischbeck K H; Cornblath D R; Chance P F
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: McCampbell A; Taylor J P; Taye A A; Robitschek J; Li M; Walcott J; Merry D; Chai Y; Paulson H; Sobue G; Fischbeck K H
CREB-binding protein sequestration by expanded polyglutamine.
Human molecular genetics 2000;9(14):2197-202.
2000: Lieberman A P; Fischbeck K H
Triplet repeat expansion in neuromuscular disease.
Muscle & nerve 2000;23(6):843-50.
2000: Wilson R B; Lynch D R; Farmer J M; Brooks D G; Fischbeck K H
Increased serum transferrin receptor concentrations in Friedreich ataxia.
Annals of neurology 2000;47(5):659-61.
2000: Cossée M; Puccio H; Gansmuller A; Koutnikova H; Dierich A; LeMeur M; Fischbeck K; Dollé P; Koenig M
Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation.
Human molecular genetics 2000;9(8):1219-26.
1999: Lin G S; Glass J D; Shumas S; Scherer S S; Fischbeck K H
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: Fischbeck K H; Abel A; Lin G S; Scherer S S
X-linked Charcot-Marie-Tooth disease and connexin32.
Annals of the New York Academy of Sciences 1999;883():36-41.
1999: Lieberman A P; Trojanowski J Q; Leonard D G; Chen K L; Barnett J L; Leverenz J B; Bird T D; Robitaille Y; Malandrini A; Fischbeck K H
Ataxin 1 and ataxin 3 in neuronal intranuclear inclusion disease.
Annals of neurology 1999;46(2):271-3.
1999: Abel A; Bone L J; Messing A; Scherer S S; Fischbeck K H
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: Fischbeck K H; Lieberman A; Bailey C K; Abel A; Merry D E
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: Hadjigeorgiou G M; Kim S H; Fischbeck K H; Andreu A L; Berry G T; 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 1999;164(2):153-7.
1999: Scherer S S; Fischbeck K H
Is CMTX an axonopathy?
Neurology 1999;52(2):432-3.
1999: Scherer S S; Bone L J; Deschênes S M; Abel A; Balice-Gordon R J; Fischbeck K H
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: Li M; Nakagomi Y; Kobayashi Y; Merry D E; Tanaka F; Doyu M; Mitsuma T; Hashizume Y; Fischbeck K H; Sobue G
Nonneural nuclear inclusions of androgen receptor protein in spinal and bulbar muscular atrophy.
The American journal of pathology 1998;153(3):695-701.
1998: Scherer S S; Xu Y T; Nelles E; Fischbeck K; Willecke K; Bone L J
Connexin32-null mice develop demyelinating peripheral neuropathy.
Glia 1998;24(1):8-20.
1998: Li M; Miwa S; Kobayashi Y; Merry D E; Yamamoto M; Tanaka F; Doyu M; Hashizume Y; Fischbeck K H; Sobue G
Nuclear inclusions of the androgen receptor protein in spinal and bulbar muscular atrophy.
Annals of neurology 1998;44(2):249-54.
1998: Wilson R B; Lynch D R; Fischbeck K H
Normal serum iron and ferritin concentrations in patients with Friedreich's ataxia.
Annals of neurology 1998;44(1):132-4.
1998: Warrick J M; Paulson H L; Gray-Board G L; Bui Q T; Fischbeck K H; Pittman R N; Bonini N M
Expanded polyglutamine protein forms nuclear inclusions and causes neural degeneration in Drosophila.
Cell 1998;93(6):939-49.
1998: La Spada A R; Peterson K R; Meadows S A; McClain M E; Jeng G; Chmelar R S; Haugen H A; Chen K; Singer M J; Moore D; Trask B J; Fischbeck K H; Clegg C H; McKnight G S
Androgen receptor YAC transgenic mice carrying CAG 45 alleles show trinucleotide repeat instability.
Human molecular genetics 1998;7(6):959-67.
1998: Merry D E; Kobayashi Y; Bailey C K; Taye A A; Fischbeck K H
Cleavage, aggregation and toxicity of the expanded androgen receptor in spinal and bulbar muscular atrophy.
Human molecular genetics 1998;7(4):693-701.
1998: Lieberman A P; Robitaille Y; Trojanowski J Q; Dickson D W; Fischbeck K H
Polyglutamine-containing aggregates in neuronal intranuclear inclusion disease.
Lancet 1998;351(9106):884.
1998: Brooks B P; Merry D E; Paulson H L; Lieberman A P; Kolson D L; Fischbeck K H
A cell culture model for androgen effects in motor neurons.
Journal of neurochemistry 1998;70(3):1054-60.
1998: Gouw L G; Castañeda M A; McKenna C K; Digre K B; Pulst S M; Perlman S; Lee M S; Gomez C; Fischbeck K; Gagnon D; Storey E; Bird T; Jeri F R; Ptácek L J
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: Deschênes S M; Walcott J L; Wexler T L; Scherer S S; Fischbeck K H
Altered trafficking of mutant connexin32.
The Journal of neuroscience : the official journal of the Society for Neuroscience 1997;17(23):9077-84.
1997: Paulson H L; Perez M K; Trottier Y; Trojanowski J Q; Subramony S H; Das S S; Vig P; Mandel J L; Fischbeck K H; Pittman R N
Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3.
Neuron 1997;19(2):333-44.
1997: Lynch D R; Hara H; Yum S W; Chance P F; Scherer S S; Bird S J; Fischbeck K H
Autosomal dominant transmission of Dejerine-Sottas disease (HMSN III).
Neurology 1997;49(2):601-3.
1997: Fischbeck K H
Kennedy disease.
Journal of inherited metabolic disease 1997;20(2):152-8.
1997: Ohno K; Quiram P A; Milone M; Wang H L; Harper M C; Pruitt J N; Brengman J M; Pao L; Fischbeck K H; Crawford T O; Sine S M; Engel A G
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: Paulson H L; Das S S; Crino P B; Perez M K; Patel S C; Gotsdiner D; Fischbeck K H; Pittman R N
Machado-Joseph disease gene product is a cytoplasmic protein widely expressed in brain.
Annals of neurology 1997;41(4):453-62.
1997: Bone L J; Deschênes S M; Balice-Gordon R J; Fischbeck K H; Scherer S S
Connexin32 and X-linked Charcot-Marie-Tooth disease.
Neurobiology of disease 1997;4(3-4):221-30.
1997: Brooks B P; Paulson H L; Merry D E; Salazar-Grueso E F; Brinkmann A O; Wilson E M; Fischbeck K H
Characterization of an expanded glutamine repeat androgen receptor in a neuronal cell culture system.
Neurobiology of disease 1997;3(4):313-23.
1996: Koshy B; Matilla T; Burright E N; Merry D E; Fischbeck K H; Orr H T; Zoghbi H Y
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: Tanaka F; Doyu M; Ito Y; Matsumoto M; Mitsuma T; Abe K; Aoki M; Itoyama Y; Fischbeck K H; Sobue G
Founder effect in spinal and bulbar muscular atrophy (SBMA).
Human molecular genetics 1996;5(9):1253-7.
1996: Fischbeck K H; Deschênes S M; Bone L J; Scherer S S
Connexin32 and X-linked Charcot-Marie-Tooth disease.
Cold Spring Harbor symposia on quantitative biology 1996;61():673-7.
1996: Paulson H L; Fischbeck K H
Trinucleotide repeats in neurogenetic disorders.
Annual review of neuroscience 1996;19():79-107.
1996: Spiegel R; La Spada A R; Kress W; Fischbeck K H; Schmid W
Somatic stability of the expanded CAG trinucleotide repeat in X-linked spinal and bulbar muscular atrophy.
Human mutation 1996;8(1):32-7.
1995: Scherer S S; Deschênes S M; Xu Y T; Grinspan J B; Fischbeck K H; Paul D L
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: Brooks B P; Fischbeck K H
Spinal and bulbar muscular atrophy: a trinucleotide-repeat expansion neurodegenerative disease.
Trends in neurosciences 1995;18(10):459-61.
1995: Priest J M; Fischbeck K H; Nouri N; Keats B J
A locus for axonal motor-sensory neuropathy with deafness and mental retardation maps to Xq24-q26.
Genomics 1995;29(2):409-12.
1995: Fischbeck K H
The expanded trinucleotide repeat in Kennedy's disease.
Proceedings of the Association of American Physicians 1995;107(2):228-30.
1995: Lynch D R; McDonald-McGinn D M; Zackai E H; Emanuel B S; Driscoll D A; Whitaker L A; Fischbeck K H
Cerebellar atrophy in a patient with velocardiofacial syndrome.
Journal of medical genetics 1995;32(7):561-3.
1995: Pericak-Vance M A; Barker D F; Bergoffen J A; Chance P; Cochrane S; Dahl N; Exler M C; Fain P R; Fairweather N D; Fischbeck K
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: Zhang L; Fischbeck K H; Arnheim N
CAG repeat length variation in sperm from a patient with Kennedy's disease.
Human molecular genetics 1995;4(2):303-5.
1995: Bingham P M; Scott M O; Wang S; McPhaul M J; Wilson E M; Garbern J Y; Merry D E; Fischbeck K H
Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice.
Nature genetics 1995;9(2):191-6.
1994: La Spada A R; Paulson H L; Fischbeck K H
Trinucleotide repeat expansion in neurological disease.
Annals of neurology 1994;36(6):814-22.
1994: Bruzzone R; White T W; Scherer S S; Fischbeck K H; Paul D L
Null mutations of connexin32 in patients with X-linked Charcot-Marie-Tooth disease.
Neuron 1994;13(5):1253-60.
1994: Danek A; Witt T N; Mann K; Schweikert H U; Romalo G; La Spada A R; Fischbeck K H
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: Bergoffen J; Kant J; Sladky J; McDonald-McGinn D; Zackai E H; Fischbeck K H
Paternal transmission of congenital myotonic dystrophy.
Journal of medical genetics 1994;31(7):518-20.
1994: Fischbeck K H
The mechanism of myotonic dystrophy.
Annals of neurology 1994;35(3):255-6.
1994: Cochrane S; Bergoffen J; Fairweather N D; Müller E; Mostacciuolo M L; Monaco A P; Fischbeck K H; Haites N E
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: Bergoffen J; Zmijewski C M; Fischbeck K H
Familial autoimmune myasthenia gravis.
Neurology 1994;44(3 Pt 1):551-4.
1994: Schoenberg M P; Hakimi J M; Wang S; Bova G S; Epstein J I; Fischbeck K H; Isaacs W B; Walsh P C; Barrack E R
Microsatellite mutation (CAG24-->18) in the androgen receptor gene in human prostate cancer.
Biochemical and biophysical research communications 1994;198(1):74-80.
1994: Chance P F; Fischbeck K H
Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies.
Human molecular genetics 1994;3 Spec No():1503-7.
1993: Bergoffen J; Scherer S S; Wang S; Scott M O; Bone L J; Paul D L; Chen K; Lensch M W; Chance P F; Fischbeck K H
Connexin mutations in X-linked Charcot-Marie-Tooth disease.
Science (New York, N.Y.) 1993;262(5142):2039-42.
1993: Roling D B; La Spada A R; Fischbeck K H
Kennedy's disease.
Neurology 1993;43(11):2424-5.
1993: Bergoffen J; Trofatter J; Pericak-Vance M A; Haines J L; Chance P F; Fischbeck K H
Linkage localization of X-linked Charcot-Marie-Tooth disease.
American journal of human genetics 1993;52(2):312-8.
1993: Fischbeck K H
Charcot-Marie-Tooth disease type 1A, 9 November 1992, San Francisco, CA, U.S.A.
Neuromuscular disorders : NMD 1993;3(1):81-2.
1992: La Spada A R; Roling D B; Harding A E; Warner C L; Spiegel R; Hausmanowa-Petrusewicz I; Yee W C; Fischbeck K H
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: Warner C L; Griffin J E; Wilson J D; Jacobs L D; Murray K R; Fischbeck K H; Dickoff D; Griggs R C
X-linked spinomuscular atrophy: a kindred with associated abnormal androgen receptor binding.
Neurology 1992;42(11):2181-4.
1992: Nieuwenhuijsen B W; Chen K L; Chinault A C; Wang S; Valmiki V H; Meershoek E J; van Ommen G J; Fischbeck K H
A yeast artificial chromosome contig spanning the Charcot-Marie-Tooth disease type 1A duplication region.
Human molecular genetics 1992;1(8):605-12.
1992: Fischbeck K H; Garbern J Y
Facioscapulohumeral muscular dystrophy defect identified.
Nature genetics 1992;2(1):3-4.
1992: Shi Y J; Fischbeck K H; Ritter A
Potential pitfalls in using DNA probes to counsel Duchenne and Becker muscular dystrophy families.
Chinese medical journal 1992;105(6):469-75.
1992: Valentijn L J; Bolhuis P A; Zorn I; Hoogendijk J E; van den Bosch N; Hensels G W; Stanton V P; Housman D E; Fischbeck K H; Ross D A
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: Müller B; Dechant C; Meng G; Liechti-Gallati S; Doherty R A; Hejtmancik J F; Bakker E; Read A P; Jeanpierre M; Fischbeck K H
Estimation of the male and female mutation rates in Duchenne muscular dystrophy (DMD).
Human genetics 1992;89(2):204-6.
1991: Driesen M S; Dauwerse J G; Wapenaar M C; Meershoek E J; Mollevanger P; Chen K L; Fischbeck K H; van Ommen G J
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: McGuire S A; Fischbeck K H
Autosomal recessive Duchenne-like muscular dystrophy: molecular and histochemical results.
Muscle & nerve 1991;14(12):1209-12.
1991: Gutmann D H; Zackai E H; McDonald-McGinn D M; Fischbeck K H; Kamholz J
Oculodentodigital dysplasia syndrome associated with abnormal cerebral white matter.
American journal of medical genetics 1991;41(1):18-20.
1991: Weiss B J; Kamholz J; Ritter A; Zackai E H; McDonald-McGinn D M; Emanuel B; Fischbeck K H
Segmental spinal muscular atrophy and dermatological findings in a patient with chromosome 18q deletion.
Annals of neurology 1991;30(3):419-23.
1991: La Spada A R; Wilson E M; Lubahn D B; Harding A E; Fischbeck K H
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy.
Nature 1991;352(6330):77-9.
1991: Vance J M; Barker D; Yamaoka L H; Stajich J M; Loprest L; Hung W Y; Fischbeck K; Roses A D; Pericak-Vance M A
Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2.
Genomics 1991;9(4):623-8.
1991: Fischbeck K H; Souders D; La Spada A
A candidate gene for X-linked spinal muscular atrophy.
Advances in neurology 1991;56():209-13.
1990: Danek A; Witt T N; Stockmann H B; Weiss B J; Schotland D L; Fischbeck K H
Normal dystrophin in McLeod myopathy.
Annals of neurology 1990;28(5):720-2.
1990: Gutmann D H; Fischbeck K H; Kamholz J
Complicated hereditary spastic paraparesis with cerebral white matter lesions.
American journal of medical genetics 1990;36(2):251-7.
1990: Ginjaar I B; Bakker E; den Dunnen J T; Wessels A; van Paassen M M; Kloosterman M D; Zubrzycka-Gaarn E E; Fischbeck K H; Moorman A F; van Ommen G J
Detection of truncated dystrophin in fetal DMD myotubes.
Advances in experimental medicine and biology 1990;280():17-23.
1989: Gutmann D H; Fischbeck K H; Sergott R C
Hereditary retinal vasculopathy with cerebral white matter lesions.
American journal of medical genetics 1989;34(2):217-20.
1989: Gospe S M; Lazaro R P; Lava N S; Grootscholten P M; Scott M O; Fischbeck K H
Familial X-linked myalgia and cramps: a nonprogressive myopathy associated with a deletion in the dystrophin gene.
Neurology 1989;39(10):1277-80.
1989: Gutmann D H; Fischbeck K H
Molecular biology of Duchenne and Becker's muscular dystrophy: clinical applications.
Annals of neurology 1989;26(2):189-94.
1989: Fischbeck K H
The difference between Duchenne and Becker dystrophies.
Neurology 1989;39(4):584-5.
1989: Chen J D; Hejtmancik J F; Romeo G; Lindlof M; Boehm C; Caskey C T; Kress W; Fischbeck K H; Dreier M; Serravalle S
A genetic linkage map of five marker loci in and around the Duchenne muscular dystrophy locus.
Genomics 1989;4(1):105-9.
1988: Cooper B J; Winand N J; Stedman H; Valentine B A; Hoffman E P; Kunkel L M; Scott M O; Fischbeck K H; Kornegay J N; Avery R J
The homologue of the Duchenne locus is defective in X-linked muscular dystrophy of dogs.
Nature 1988;334(6178):154-6.
1988: Hoffman E P; Fischbeck K H; Brown R H; Johnson M; Medori R; Loike J D; Harris J B; 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 1988;318(21):1363-8.
1988: Scott M O; Sylvester J E; Heiman-Patterson T; Shi Y J; Fieles W; Stedman H; Burghes A; Ray P; Worton R; Fischbeck K H
Duchenne muscular dystrophy gene expression in normal and diseased human muscle.
Science (New York, N.Y.) 1988;239(4846):1418-20.
1988: Stedman H; Browning K; Oliver N; Oronzi-Scott M; Fischbeck K; Sarkar S; Sylvester J; Schmickel R; Wang K
Nebulin cDNAs detect a 25-kilobase transcript in skeletal muscle and localize to human chromosome 2.
Genomics 1988;2(1):1-7.
1987: Rozear M P; Pericak-Vance M A; Fischbeck K; Stajich J M; Gaskell P C; Krendel D A; Graham D G; Dawson D V; Roses A D
Hereditary motor and sensory neuropathy, X-linked: a half century follow-up.
Neurology 1987;37(9):1460-5.
1987: Kenwrick S; Patterson M; Speer A; Fischbeck K; Davies K
Molecular analysis of the Duchenne muscular dystrophy region using pulsed field gel electrophoresis.
Cell 1987;48(2):351-7.
1986: Fischbeck K H; Ionasescu V; Ritter A W; 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 1986;36(12):1595-8.
1986: Bertelson C J; Bartley J A; Monaco A P; Colletti-Feener C; Fischbeck K; Kunkel L M
Localisation of Xp21 meiotic exchange points in Duchenne muscular dystrophy families.
Journal of medical genetics 1986;23(6):531-7.
1986: Fischbeck K H; ar-Rushdi N; Pericak-Vance M; Rozear M; Roses A D; Fryns J P
X-linked neuropathy: gene localization with DNA probes.
Annals of neurology 1986;20(4):527-32.
1986: Kunkel L M; Hejtmancik J F; Caskey C T; Speer A; Monaco A P; Middlesworth W; Colletti C A; Bertelson C; Müller U; Bresnan M; Shapiro F; Tantravahi U; Speer J; Latt S A; Bartlett R; Pericak-Vance M A; Roses A D; Thompson M W; Ray P N; Worton R G; Fischbeck K H; Gallano P; Coulon M; Duros C; Boue J; Junien C; Chelly J; Hamard G; Jeanpierre M; Lambert M; Kaplan J C; Emery A; Dorkins H; McGlade S; Davies K E; Boehm C; Arveiler B; Lemaire C; Morgan G J; Denton M J; Amos J; Bobrow M; Benham F; Boswinkel E; Cole C; Dubowitz V; Hart K; Hodgson S; Johnson L; Walker A; Roncuzzi L; Ferlini A; Nobile C; Romeo G; Wilcox D E; Affara N A; Ferguson-Smith M A; Lindolf M; Kaariainen H; de la Chapelle A; Ionasescu V; Searby C; Ionasescu R; Bakker E; van Ommen G J; Pearson P L; Greenberg C R; Hamerton J L; Wrogemann K; Doherty R A; Polakowska R; Hyser C; Quirk S; Thomas N; Harper J F; Darras B T; Francke U
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy.
Nature 1986;322(6074):73-7.
1986: Fischbeck K H; Ritter A W; Tirschwell D L; Kunkel L M; Bertelson C J; Monaco A P; Hejtmancik J F; Boehm C; Ionasescu V; Ionasescu R
Recombination with pERT87 (DXS164) in families with X-linked muscular dystrophy.
Lancet 1986;2(8498):104.
1985: Monaco A P; Bertelson C J; Middlesworth W; Colletti C A; Aldridge J; Fischbeck K H; Bartlett R; Pericak-Vance M A; Roses A D; Kunkel L M
Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment.
Nature 1985;316(6031):842-5.
1985: Sirken S M; Fischbeck K H
Freeze-fracture studies of denervated and tenotomized rat muscle.
Journal of neuropathology and experimental neurology 1985;44(2):147-55.
1984: Fischbeck K H; Bonilla E; Schotland D L
Distribution of freeze-fracture particle sizes in Duchenne muscle plasma membrane.
Neurology 1984;34(4):534-5.
1984: Fischbeck K H
Effects of ATP depletion and protein synthesis inhibition on muscle plasma membrane orthogonal arrays.
Experimental neurology 1984;83(3):577-88.
1983: Bonilla E; Fischbeck K H; Schotland D L
Freeze-fracture study of muscle plasma membrane in obligate carriers of Duchenne muscular dystrophy.
Neurology 1983;33(10):1346-7.
1983: Fischbeck K H; Bonilla E; Schotland D L
Freeze-fracture analysis of plasma membrane cholesterol in Duchenne muscle.
Annals of neurology 1983;13(5):532-5.
1983: Fischbeck K H; Schotland D L
Variability of X-linked muscular dystrophy.
Annals of neurology 1983;13(2):217.
1982: Fischbeck K H; Bonilla E; Schotland D L
Freeze-fracture analysis of plasma membrane cholesterol in fast- and slow-twitch muscles.
Journal of ultrastructure research 1982;81(1):117-23.
1982: Fischbeck K H; Bonilla E; Schotland D L
Freeze-fracture characterization of 'young' and 'old' human erythrocytes.
Biochimica et biophysica acta 1982;685(2):207-10.
1982: Fischbeck K H; Bradley W G; Bank W O
Sneeze-induced hemiparesis.
Annals of neurology 1982;11(1):105-6.
1982: Bradley W G; Bank W O; Fischbeck K H
Sneeze-induced hemiparesis from unruptured intracranial aneurysm.
Journal of neuroradiology. Journal de neuroradiologie 1982;9(4):323-7.
1981: Fischbeck K H; Simon R P
Neurological manifestations of accidental hypothermia.
Annals of neurology 1981;10(4):384-7.
1981: Risk W S; Bosch E P; Kimura J; Cancilla P A; Fischbeck K H; Layzer R B
Chronic tetanus: clinical report and histochemistry of muscle.
Muscle & nerve 1981;4(5):363-6.
1981: Bonilla E; Fischbeck K; Schotland D L
Freeze-fracture studies of muscle caveolae in human muscular dystrophy.
The American journal of pathology 1981;104(2):167-73.
1980: Fischbeck K H; Mata M; D'Aquisto R; Caronna J J
Brompton mixture taken intravenously by a heroin addict.
The Western journal of medicine 1980;133(1):80.
1979: Fischbeck K H; Layzer R B
Paroxysmal choreoathetosis associated with thyrotosicosis.
Annals of neurology 1979;6(5):453-4.
1977: Leahy W R; Toyka K V; Fischbeck K H
Cerebral abscess in children secondary to esophageal dilatation.
Pediatrics 1977;59(2):300-1.
1976: Letinsky M S; Fischbeck K H; McMahan U J
Precision of reinnervation of original postsynaptic sites in frog muscle after a nerve crush.
Journal of neurocytology 1976;5(6):691-718.

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