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Items: 1 to 20 of 221


Safety, tolerability, and preliminary efficacy of an IGF-1 mimetic in patients with spinal and bulbar muscular atrophy: a randomised, placebo-controlled trial.

Grunseich C, Miller R, Swan T, Glass DJ, El Mouelhi M, Fornaro M, Petricoul O, Vostiar I, Roubenoff R, Meriggioli MN, Kokkinis A, Guber RD, Budron MS, Vissing J, Soraru G, Mozaffar T, Ludolph A, Kissel JT, Fischbeck KH; BVS857 study group.

Lancet Neurol. 2018 Dec;17(12):1043-1052. doi: 10.1016/S1474-4422(18)30320-X. Epub 2018 Oct 15.


Systemic Delivery of MicroRNA Using Recombinant Adeno-associated Virus Serotype 9 to Treat Neuromuscular Diseases in Rodents.

Pourshafie N, Lee PR, Chen KL, Harmison GG, Bott LC, Fischbeck KH, Rinaldi C.

J Vis Exp. 2018 Aug 10;(138). doi: 10.3791/55724.


Nucleocytoplasmic transport defect in a North American patient with ALS8.

Guber RD, Schindler AB, Budron MS, Chen KL, Li Y, Fischbeck KH, Grunseich C.

Ann Clin Transl Neurol. 2018 Feb 4;5(3):369-375. doi: 10.1002/acn3.515. eCollection 2018 Mar.


Spinal muscular atrophy.

Arnold ES, Fischbeck KH.

Handb Clin Neurol. 2018;148:591-601. doi: 10.1016/B978-0-444-64076-5.00038-7. Review.


Senataxin Mutation Reveals How R-Loops Promote Transcription by Blocking DNA Methylation at Gene Promoters.

Grunseich C, Wang IX, Watts JA, Burdick JT, Guber RD, Zhu Z, Bruzel A, Lanman T, Chen K, Schindler AB, Edwards N, Ray-Chaudhury A, Yao J, Lehky T, Piszczek G, Crain B, Fischbeck KH, Cheung VG.

Mol Cell. 2018 Feb 1;69(3):426-437.e7. doi: 10.1016/j.molcel.2017.12.030. Epub 2018 Jan 27.


Nonalcoholic fatty liver disease in spinal and bulbar muscular atrophy.

Guber RD, Takyar V, Kokkinis A, Fox DA, Alao H, Kats I, Bakar D, Remaley AT, Hewitt SM, Kleiner DE, Liu CY, Hadigan C, Fischbeck KH, Rotman Y, Grunseich C.

Neurology. 2017 Dec 12;89(24):2481-2490. doi: 10.1212/WNL.0000000000004748. Epub 2017 Nov 15.


Respiratory magnetic resonance imaging biomarkers in Duchenne muscular dystrophy.

Mankodi A, Kovacs W, Norato G, Hsieh N, Bandettini WP, Bishop CA, Shimellis H, Newbould RD, Kim E, Fischbeck KH, Arai AE, Yao J.

Ann Clin Transl Neurol. 2017 Jul 28;4(9):655-662. doi: 10.1002/acn3.440. eCollection 2017 Sep.


Patient-identified impact of symptoms in spinal and bulbar muscular atrophy.

Guber RD, Kokkinis AD, Schindler AB, Bendixen RM, Heatwole CR, Fischbeck KH, Grunseich C.

Muscle Nerve. 2018 Jan;57(1):40-44. doi: 10.1002/mus.25957. Epub 2017 Sep 25.


Skeletal muscle water T2 as a biomarker of disease status and exercise effects in patients with Duchenne muscular dystrophy.

Mankodi A, Azzabou N, Bulea T, Reyngoudt H, Shimellis H, Ren Y, Kim E, Fischbeck KH, Carlier PG.

Neuromuscul Disord. 2017 Aug;27(8):705-714. doi: 10.1016/j.nmd.2017.04.008. Epub 2017 Apr 28.


Decreased Motor Neuron Support by SMA Astrocytes due to Diminished MCP1 Secretion.

Martin JE, Nguyen TT, Grunseich C, Nofziger JH, Lee PR, Fields D, Fischbeck KH, Foran E.

J Neurosci. 2017 May 24;37(21):5309-5318. doi: 10.1523/JNEUROSCI.3472-16.2017. Epub 2017 Apr 27.


A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss.

Guinto CO, Diarra S, Diallo S, Cissé L, Coulibaly T, Diallo SH, Taméga A, Chen KL, Schindler AB, Bagayoko K, Simaga A, Blackstone C, Fischbeck KH, Landouré G.

Ann Clin Transl Neurol. 2017 Mar 21;4(4):272-275. doi: 10.1002/acn3.402. eCollection 2017 Apr.


Upper arm and cardiac magnetic resonance imaging in Duchenne muscular dystrophy.

Gaur L, Hanna A, Bandettini WP, Fischbeck KH, Arai AE, Mankodi A.

Ann Clin Transl Neurol. 2016 Oct 19;3(12):948-955. doi: 10.1002/acn3.367. eCollection 2016 Dec.


Adenylyl cyclase activating polypeptide reduces phosphorylation and toxicity of the polyglutamine-expanded androgen receptor in spinobulbar muscular atrophy.

Polanco MJ, Parodi S, Piol D, Stack C, Chivet M, Contestabile A, Miranda HC, Lievens PM, Espinoza S, Jochum T, Rocchi A, Grunseich C, Gainetdinov RR, Cato AC, Lieberman AP, La Spada AR, Sambataro F, Fischbeck KH, Gozes I, Pennuto M.

Sci Transl Med. 2016 Dec 21;8(370):370ra181. doi: 10.1126/scitranslmed.aaf9526.


ML372 blocks SMN ubiquitination and improves spinal muscular atrophy pathology in mice.

Abera MB, Xiao J, Nofziger J, Titus S, Southall N, Zheng W, Moritz KE, Ferrer M, Cherry JJ, Androphy EJ, Wang A, Xu X, Austin C, Fischbeck KH, Marugan JJ, Burnett BG.

JCI Insight. 2016 Nov 17;1(19):e88427. doi: 10.1172/jci.insight.88427.


Sexual Reassignment Fails to Prevent Kennedy's Disease.

Lanman TA, Bakar D, Badders NM, Burke A, Kokkinis A, Shrader JA, Joe GO, Schindler AB, Bott LC, Harmison GG, Taylor JP, Fischbeck KH, Grunseich C.

J Neuromuscul Dis. 2016 Mar 3;3(1):121-125.


Quantifying disease activity in fatty-infiltrated skeletal muscle by IDEAL-CPMG in Duchenne muscular dystrophy.

Mankodi A, Bishop CA, Auh S, Newbould RD, Fischbeck KH, Janiczek RL.

Neuromuscul Disord. 2016 Oct;26(10):650-658. doi: 10.1016/j.nmd.2016.07.013. Epub 2016 Jul 28.


The polyglutamine-expanded androgen receptor responsible for spinal and bulbar muscular atrophy inhibits the APC/C(Cdh1) ubiquitin ligase complex.

Bott LC, Salomons FA, Maric D, Liu Y, Merry D, Fischbeck KH, Dantuma NP.

Sci Rep. 2016 Jun 17;6:27703. doi: 10.1038/srep27703.


Genetics and genomic medicine in Mali: challenges and future perspectives.

Landouré G, Samassékou O, Traoré M, Meilleur KG, Guinto CO, Burnett BG, Sumner CJ, Fischbeck KH.

Mol Genet Genomic Med. 2016 Mar 17;4(2):126-34. doi: 10.1002/mgg3.212. eCollection 2016 Mar.


A small-molecule Nrf1 and Nrf2 activator mitigates polyglutamine toxicity in spinal and bulbar muscular atrophy.

Bott LC, Badders NM, Chen KL, Harmison GG, Bautista E, Shih CC, Katsuno M, Sobue G, Taylor JP, Dantuma NP, Fischbeck KH, Rinaldi C.

Hum Mol Genet. 2016 May 15;25(10):1979-1989. Epub 2016 Mar 8.


Mifepristone-inducible transgene expression in neural progenitor cells in vitro and in vivo.

Hjelm BE, Grunseich C, Gowing G, Avalos P, Tian J, Shelley BC, Mooney M, Narwani K, Shi Y, Svendsen CN, Wolfe JH, Fischbeck KH, Pierson TM.

Gene Ther. 2016 May;23(5):424-37. doi: 10.1038/gt.2016.13. Epub 2016 Feb 10.

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