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Papers authored by Fischbeck K

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

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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, Caterina MJ,

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Nature genetics 42(2):170-4, 2010 Feb - Who cited this? | PubMed ID: 20037586 | Fulltext

GARS axonopathy: not every neuron's cup of tRNA.

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Motley WW, Talbot K, and Fischbeck KH

Trends in neurosciences 33(2):59-66, 2010 Feb - Who cited this? | PubMed ID: 20152552 | Fulltext

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

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Haugen AC, Di Prospero NA, Parker JS, Fannin RD, Chou J, Meyer JN, Halweg C, Collins JB, Durr A, Fischbeck K, and Van Houten B

PLoS genetics 6(1):e1000812, 2010 Jan - Who cited this? | PubMed ID: 20090835 | Fulltext

Clinical features of spinal and bulbar muscular atrophy.

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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, and Fischbeck KH

Brain : a journal of neurology 132(Pt 12):3242-51, 2009 Dec - Who cited this? | PubMed ID: 19846582 | Fulltext

Standard and modified statistical mune evaluations in spinal-bulbar muscular atrophy.

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Lehky TJ, Chen CJ, di Prospero NA, Rhodes LE, Fischbeck K, and Floeter MK

Muscle & nerve 40(5):809-14, 2009 Nov - Who cited this? | PubMed ID: 19670325 | Fulltext

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

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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, and Fischbeck KH

Neurogenetics 10(4):319-23, 2009 Oct - Who cited this? | PubMed ID: 19322595 | Fulltext

Overexpression of IGF-1 in muscle attenuates disease in a mouse model of spinal and bulbar muscular atrophy.

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Palazzolo I, Stack C, Kong L, Musaro A, Adachi H, Katsuno M, Sobue G, Taylor JP, Sumner CJ, Fischbeck KH, and Pennuto M

Neuron 63(3):316-28, 2009 Aug 13 - Who cited this? | PubMed ID: 19679072 | Fulltext

Regulation of SMN protein stability.

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Burnett BG, Muñoz E, Tandon A, Kwon DY, Sumner CJ, and Fischbeck KH

Molecular and cellular biology 29(5):1107-15, 2009 Mar - Who cited this? | PubMed ID: 19103745 | Fulltext

Clinical experience with high-dose idebenone in Friedreich ataxia.

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Schulz JB, Di Prospero NA, and Fischbeck K

Journal of neurology 256 Suppl 1:42-5, 2009 Mar - Who cited this? | PubMed ID: 19283350 | Fulltext

Polyglutamine-expanded androgen receptor truncation fragments activate a Bax-dependent apoptotic cascade mediated by DP5/Hrk.

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Young JE, Garden GA, Martinez RA, Tanaka F, Sandoval CM, Smith AC, Sopher BL, Lin A, Fischbeck KH, Ellerby LM, Morrison RS, Taylor JP, and La Spada AR

The Journal of neuroscience : the official journal of the Society for Neuroscience 29(7):1987-97, 2009 Feb 18 - Who cited this? | PubMed ID: 19228953 | Fulltext

Anti-androgen treatment for spinal and bulbar muscular atrophy.

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Fischbeck KH and Bryan WW

Annals of neurology 65(2):119-20, 2009 Feb - Who cited this? | PubMed ID: 19259961 | Fulltext

Mitochondrial Abnormalities in Spinal and Bulbar Muscular Atrophy.

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Ranganathan S, Harmison GG, Meyertholen K, Pennuto M, Burnett BG, and Fischbeck KH

Human molecular genetics, 2008 Sep 29 - Who cited this? | PubMed ID: 18824496 | Fulltext

A Duplication at Chromosome 11q12.2-11q12.3 is Associated with Spinocerebellar Ataxia Type 20 (SCA20).

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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, and Singleton AB

Human molecular genetics, 2008 Sep 18 - Who cited this? | PubMed ID: 18801880 | Fulltext

Evidence of a founder haplotype refines the X-linked Charcot-Marie-Tooth (CMTX3) locus to a 2.5 Mb region.

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Brewer M, Changi F, Antonellis A, Fischbeck K, Polly P, Nicholson G, and Kennerson M

Neurogenetics 9(3):191-5, 2008 Jul - Who cited this? | PubMed ID: 18458969 | Fulltext

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

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Burnett BG, Andrews J, Ranganathan S, Fischbeck KH, and Di Prospero NA

Neurobiology of disease, 2008 Mar 6 - Who cited this? | PubMed ID: 18417352 | Fulltext

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

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Mochel F, Knight MA, Tong WH, Hernandez D, Ayyad K, Taivassalo T, Andersen PM, Singleton A, Rouault TA, Fischbeck KH, and Haller RG

American journal of human genetics 82(3):652, 2008 Mar - Who cited this? | PubMed ID: 18304497 | Fulltext

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

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Di Prospero NA, Baker A, Jeffries N, and Fischbeck KH

Lancet neurology 6(10):878, 2007 Oct - Who cited this? | PubMed ID: 17826341 | Fulltext

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

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Palazzolo I, Burnett BG, Young JE, Brenne PL, La Spada AR, Fischbeck KH, Howell BW, and Pennuto M

Human molecular genetics 16(13):1593, 2007 Jul 1 - Who cited this? | PubMed ID: 17470458 | Fulltext

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

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Di Prospero NA, Sumner CJ, Penzak SR, Ravina B, Fischbeck KH, and Taylor JP

Archives of neurology 64(6):803-8, 2007 Jun - Who cited this? | PubMed ID: 17562928 | Fulltext

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

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Avila AM, Burnett BG, Taye AA, Gabanella F, Knight MA, Hartenstein P, Cizman Z, Di Prospero NA, Pellizzoni L, Fischbeck KH, and Sumner CJ

The Journal of clinical investigation 117(3):659, 2007 Mar - Who cited this? | PubMed ID: 17318264 | Fulltext

Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons.

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Antonellis A, Lee-Lin SQ, Wasterlain A, Leo P, Quezado M, Goldfarb LG, Myung K, Burgess S, Fischbeck KH, and Green ED

The Journal of neuroscience : the official journal of the Society for Neuroscience 26(41):10397-406, 2006 Oct 11 - Who cited this? | PubMed ID: 17035524 | Fulltext

The effects of a dominant connexin32 mutant in myelinating Schwann cells.

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Jeng LJ, Balice-Gordon RJ, Messing A, Fischbeck KH, and Scherer SS

Molecular and cellular neurosciences 32(3):283-98, 2006 Jul - Who cited this? | PubMed ID: 16790356 | Fulltext

SMN mRNA and protein levels in peripheral blood: biomarkers for SMA clinical trials.

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Sumner CJ, Kolb SJ, Harmison GG, Jeffries NO, Schadt K, Finkel RS, Dreyfuss G, and Fischbeck KH

Neurology 66(7):1067-73, 2006 Apr 11 - Who cited this? | PubMed ID: 16481599 | Fulltext

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

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Levy JR, Sumner CJ, Caviston JP, Tokito MK, Ranganathan S, Ligon LA, Wallace KE, LaMonte BH, Harmison GG, Puls I, Fischbeck KH, and Holzbaur EL

The Journal of cell biology 172(5):733-45, 2006 Feb 27 - Who cited this? | PubMed ID: 16505168 | Fulltext

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

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Kolb SJ, Gubitz AK, Olszewski RF, Ottinger E, Sumner CJ, Fischbeck KH, and Dreyfuss G

BMC neurology 6:6, 2006 - Who cited this? | PubMed ID: 16451734 | Fulltext

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

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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, and Goldfarb LG

Brain : a journal of neurology 128(Pt 10):2304-14, 2005 Oct - Who cited this? | PubMed ID: 16014653 | Fulltext

Therapeutics development for triplet repeat expansion diseases.

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Di Prospero NA and Fischbeck KH

Nature reviews. Genetics 6(10):756-65, 2005 Oct - Who cited this? | PubMed ID: 16205715 | Fulltext

The role of histone acetylation in SMN gene expression.

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Kernochan LE, Russo ML, Woodling NS, Huynh TN, Avila AM, Fischbeck KH, and Sumner CJ

Human molecular genetics 14(9):1171-82, 2005 May 1 - Who cited this? | PubMed ID: 15772088 | Fulltext

Severe neuropathy with leaky connexin32 hemichannels.

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Liang GS, de Miguel M, Gómez-Hernández JM, Glass JD, Scherer SS, Mintz M, Barrio LC, and Fischbeck KH

Annals of neurology 57(5):749-54, 2005 May - Who cited this? | PubMed ID: 15852376 | Fulltext

Distal spinal and bulbar muscular atrophy caused by dynactin mutation.

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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, and Ludlow CL

Annals of neurology 57(5):687-94, 2005 May - Who cited this? | PubMed ID: 15852399 | Fulltext

Measuring Friedreich ataxia: Interrater reliability of a neurologic rating scale.

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Subramony SH, May W, Lynch D, Gomez C, Fischbeck K, Hallett M, Taylor P, Wilson R, Ashizawa T, and Cooperative Ataxia Group

Neurology 64(7):1261-2, 2005 Apr 12 - Who cited this? | PubMed ID: 15824358 | Fulltext

Transgenic expression of human connexin32 in myelinating Schwann cells prevents demyelination in connexin32-null mice.

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Scherer SS, Xu YT, Messing A, Willecke K, Fischbeck KH, and Jeng LJ

The Journal of neuroscience : the official journal of the Society for Neuroscience 25(6):1550-9, 2005 Feb 9 - Who cited this? | PubMed ID: 15703409 | Fulltext

Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting.

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Verbeek DS, Knight MA, Harmison GG, Fischbeck KH, and Howell BW

Brain : a journal of neurology 128(Pt 2):436-42, 2005 Feb - Who cited this? | PubMed ID: 15618281 | Fulltext

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

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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,

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American journal of human genetics 74(6):1128-35, 2004 Jun - Who cited this? | PubMed ID: 15106121 | Fulltext

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

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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, Wiktorski S,

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Proceedings of the National Academy of Sciences of the United States of America 101(10):3498-503, 2004 Mar 9 - Who cited this? | PubMed ID: 14993615 | Fulltext

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

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Piccioni F, Roman BR, Fischbeck KH, and Taylor JP

Human molecular genetics 13(4):437-46, 2004 Feb 15 - Who cited this? | PubMed ID: 14709594 | Fulltext

Spinal muscular atrophy in the neonate.

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Markowitz JA, Tinkle MB, and Fischbeck KH

Journal of obstetric, gynecologic, and neonatal nursing : JOGNN / NAACOG 33(1):12-20, 2004 - Who cited this? | PubMed ID: 14971549 | Fulltext

Valproic acid increases SMN levels in spinal muscular atrophy patient cells.

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Sumner CJ, Huynh TN, Markowitz JA, Perhac JS, Hill B, Coovert DD, Schussler K, Chen X, Jarecki J, Burghes AH, Taylor JP, and Fischbeck KH

Annals of neurology 54(5):647, 2003 Nov - Who cited this? | PubMed ID: 14595654 | Fulltext

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

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Taylor JP, Taye AA, Campbell C, Kazemi-Esfarjani P, Fischbeck KH, and Min KT

Genes & development 17(12):1463-8, 2003 Jun 15 - Who cited this? | PubMed ID: 12815067 | Fulltext

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

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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,

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American journal of human genetics 72(5):1293-9, 2003 May - Who cited this? | PubMed ID: 12690580 | Fulltext

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

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Taylor JP, Tanaka F, Robitschek J, Sandoval CM, Taye A, Markovic-Plese S, and Fischbeck KH

Human molecular genetics 12(7):749, 2003 Apr 1 - Who cited this? | PubMed ID: 12651870 | Fulltext

Mutant dynactin in motor neuron disease.

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Puls I, Jonnakuty C, LaMonte BH, Holzbaur EL, Tokito M, Mann E, Floeter MK, Bidus K, Drayna D, Oh SJ, Brown RH, Ludlow CL, and Fischbeck KH

Nature genetics 33(4):455-6, 2003 Apr - Who cited this? | PubMed ID: 12627231 | Fulltext

Jaw drop in Kennedy's disease.

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Sumner CJ and Fischbeck KH

Neurology 59(9):1471-2, 2002 Nov 12 - Who cited this? | PubMed ID: 12427914 | Fulltext

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

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Paulson HL, Garbern JY, Hoban TF, Krajewski KM, Lewis RA, Fischbeck KH, Grossman RI, Lenkinski R, Kamholz JA, and Shy ME

Annals of neurology 52(4):429-34, 2002 Oct - Who cited this? | PubMed ID: 12325071 | Fulltext

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

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Lieberman AP, Harmison G, Strand AD, Olson JM, and Fischbeck KH

Human molecular genetics 11(17):1967-76, 2002 Aug 15 - Who cited this? | PubMed ID: 12165558 | Fulltext

Toxic proteins in neurodegenerative disease.

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Taylor JP, Hardy J, and Fischbeck KH

Science (New York, N.Y.) 296(5575):1991-5, 2002 Jun 14 - Who cited this? | PubMed ID: 12065827 | Fulltext

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

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Taylor JP and Fischbeck KH

Trends in molecular medicine 8(5):195-7, 2002 May - Who cited this? | PubMed ID: 12067622 | Fulltext

Running endurance abnormality in mdx mice.

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Hara H, Nolan PM, Scott MO, Bucan M, Wakayama Y, and Fischbeck KH

Muscle & nerve 25(2):207-11, 2002 Feb - Who cited this? | PubMed ID: 11870688 | Fulltext

Histone deacetylase inhibitors reduce polyglutamine toxicity.

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McCampbell A, Taye AA, Whitty L, Penney E, Steffan JS, and Fischbeck KH

Proceedings of the National Academy of Sciences of the United States of America 98(26):15179-84, 2001 Dec 18 - Who cited this? | PubMed ID: 11742087 | Fulltext

Impact of the human genome sequence on neurology and neuroscience.

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Puls I, Lieberman AP, and Fischbeck KH

Archives of neurology 58(11):1750-1, 2001 Nov - Who cited this? | PubMed ID: 11708978 | Fulltext

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