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Items: 38

1.

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.

PMID:
30337273
2.

Human proteins that interact with RNA/DNA hybrids.

Wang IX, Grunseich C, Fox J, Burdick J, Zhu Z, Ravazian N, Hafner M, Cheung VG.

Genome Res. 2018 Sep;28(9):1405-1414. doi: 10.1101/gr.237362.118. Epub 2018 Aug 14.

3.

Transcription Factor-Mediated Differentiation of Human iPSCs into Neurons.

Fernandopulle MS, Prestil R, Grunseich C, Wang C, Gan L, Ward ME.

Curr Protoc Cell Biol. 2018 Jun;79(1):e51. doi: 10.1002/cpcb.51. Epub 2018 May 18.

PMID:
29924488
4.

Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients.

Bennett CL, Dastidar SG, Ling SC, Malik B, Ashe T, Wadhwa M, Miller DB, Lee C, Mitchell MB, van Es MA, Grunseich C, Chen Y, Sopher BL, Greensmith L, Cleveland DW, La Spada AR.

Acta Neuropathol. 2018 Sep;136(3):425-443. doi: 10.1007/s00401-018-1852-9. Epub 2018 May 3.

PMID:
29725819
5.

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.

6.

Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons.

Shi Y, Lin S, Staats KA, Li Y, Chang WH, Hung ST, Hendricks E, Linares GR, Wang Y, Son EY, Wen X, Kisler K, Wilkinson B, Menendez L, Sugawara T, Woolwine P, Huang M, Cowan MJ, Ge B, Koutsodendris N, Sandor KP, Komberg J, Vangoor VR, Senthilkumar K, Hennes V, Seah C, Nelson AR, Cheng TY, Lee SJ, August PR, Chen JA, Wisniewski N, Hanson-Smith V, Belgard TG, Zhang A, Coba M, Grunseich C, Ward ME, van den Berg LH, Pasterkamp RJ, Trotti D, Zlokovic BV, Ichida JK.

Nat Med. 2018 Mar;24(3):313-325. doi: 10.1038/nm.4490. Epub 2018 Feb 5.

7.

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.

PMID:
29395064
8.

Beyond motor neurons: expanding the clinical spectrum in Kennedy's disease.

Manzano R, Sorarú G, Grunseich C, Fratta P, Zuccaro E, Pennuto M, Rinaldi C.

J Neurol Neurosurg Psychiatry. 2018 Aug;89(8):808-812. doi: 10.1136/jnnp-2017-316961. Epub 2018 Jan 20. Review.

9.

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.

10.

Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges.

Jerath NU, Mankodi A, Crawford TO, Grunseich C, Baloui H, Nnamdi-Emeratom C, Schindler AB, Heiman-Patterson T, Chrast R, Shy ME.

Muscle Nerve. 2018 May;57(5):749-755. doi: 10.1002/mus.25981. Epub 2017 Oct 24.

PMID:
28981955
11.

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.

12.

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.

Di Gioia SA, Connors S, Matsunami N, Cannavino J, Rose MF, Gilette NM, Artoni P, de Macena Sobreira NL, Chan WM, Webb BD, Robson CD, Cheng L, Van Ryzin C, Ramirez-Martinez A, Mohassel P, Leppert M, Scholand MB, Grunseich C, Ferreira CR, Hartman T, Hayes IM, Morgan T, Markie DM, Fagiolini M, Swift A, Chines PS, Speck-Martins CE, Collins FS, Jabs EW, Bönnemann CG, Olson EN; Moebius Syndrome Research Consortium, Carey JC, Robertson SP, Manoli I, Engle EC.

Nat Commun. 2017 Jul 6;8:16077. doi: 10.1038/ncomms16077.

13.

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.

14.

Inhibition of retrograde transport modulates misfolded protein accumulation and clearance in motoneuron diseases.

Cristofani R, Crippa V, Rusmini P, Cicardi ME, Meroni M, Licata NV, Sala G, Giorgetti E, Grunseich C, Galbiati M, Piccolella M, Messi E, Ferrarese C, Carra S, Poletti A.

Autophagy. 2017 Aug 3;13(8):1280-1303. doi: 10.1080/15548627.2017.1308985.

15.

Hippocampal sclerosis and mesial temporal lobe epilepsy in chorea-acanthocytosis: a case with clinical, pathologic and genetic evaluation.

Mente K, Kim SA, Grunseich C, Hefti MM, Crary JF, Danek A, Karp BI, Walker RH.

Neuropathol Appl Neurobiol. 2017 Oct;43(6):542-546. doi: 10.1111/nan.12403. No abstract available.

16.

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.

PMID:
28003546
17.

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.

PMID:
27854206
18.

RNA-DNA sequence differences in Saccharomyces cerevisiae.

Wang IX, Grunseich C, Chung YG, Kwak H, Ramrattan G, Zhu Z, Cheung VG.

Genome Res. 2016 Nov;26(11):1544-1554. Epub 2016 Sep 16.

19.

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.

20.

Spinal and Bulbar Muscular Atrophy.

Grunseich C, Fischbeck KH.

Neurol Clin. 2015 Nov;33(4):847-54. doi: 10.1016/j.ncl.2015.07.002. Epub 2015 Sep 8. Review.

21.

Divalent cation-responsive myotonia and muscle paralysis in skeletal muscle sodium channelopathy.

Mankodi A, Grunseich C, Skov M, Cook L, Aue G, Purev E, Bakar D, Lehky T, Jurkat-Rott K, Pedersen TH, Childs RW.

Neuromuscul Disord. 2015 Nov;25(11):908-12. doi: 10.1016/j.nmd.2015.08.007. Epub 2015 Aug 20.

22.

A randomized controlled trial of exercise in spinal and bulbar muscular atrophy.

Shrader JA, Kats I, Kokkinis A, Zampieri C, Levy E, Joe GO, Woolstenhulme JG, Drinkard BE, Smith MR, Ching W, Ghosh L, Fox D, Auh S, Schindler AB, Fischbeck KH, Grunseich C.

Ann Clin Transl Neurol. 2015 Jul;2(7):739-47. doi: 10.1002/acn3.208. Epub 2015 May 7.

23.

Toe-extension myotonia in myotonic dystrophy type 1.

Mankodi A, Grunseich C.

Neurology. 2015 Jul 14;85(2):203. doi: 10.1212/WNL.0000000000001734. No abstract available.

24.

A functional scale for spinal and bulbar muscular atrophy: Cross-sectional and longitudinal study.

Hashizume A, Katsuno M, Suzuki K, Banno H, Suga N, Mano T, Araki A, Hijikata Y, Grunseich C, Kokkinis A, Hirakawa A, Watanabe H, Yamamoto M, Fischbeck KH, Sobue G.

Neuromuscul Disord. 2015 Jul;25(7):554-62. doi: 10.1016/j.nmd.2015.03.008. Epub 2015 Mar 20.

25.

Development of a protein marker panel for characterization of human induced pluripotent stem cells (hiPSCs) using global quantitative proteome analysis.

Pripuzova NS, Getie-Kebtie M, Grunseich C, Sweeney C, Malech H, Alterman MA.

Stem Cell Res. 2015 May;14(3):323-38. doi: 10.1016/j.scr.2015.01.009. Epub 2015 Feb 7.

26.

Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia.

Rinaldi C, Schmidt T, Situ AJ, Johnson JO, Lee PR, Chen KL, Bott LC, Fadó R, Harmison GH, Parodi S, Grunseich C, Renvoisé B, Biesecker LG, De Michele G, Santorelli FM, Filla A, Stevanin G, Dürr A, Brice A, Casals N, Traynor BJ, Blackstone C, Ulmer TS, Fischbeck KH.

JAMA Neurol. 2015 May;72(5):561-70. doi: 10.1001/jamaneurol.2014.4769. Erratum in: JAMA Neurol. 2015 May;72(5):608.

27.

Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency.

Grunseich C, Schindler AB, Chen KL, Bakar D, Mankodi A, Traslavina R, Ray-Chaudhury A, Lehky TJ, Baker EH, Maragakis NJ, Tifft CJ, Fischbeck KH.

J Neurol. 2015;262(4):1066-8. doi: 10.1007/s00415-015-7683-x. Epub 2015 Mar 4. No abstract available.

28.

Protein arginine methyltransferase 6 enhances polyglutamine-expanded androgen receptor function and toxicity in spinal and bulbar muscular atrophy.

Scaramuzzino C, Casci I, Parodi S, Lievens PMJ, Polanco MJ, Milioto C, Chivet M, Monaghan J, Mishra A, Badders N, Aggarwal T, Grunseich C, Sambataro F, Basso M, Fackelmayer FO, Taylor JP, Pandey UB, Pennuto M.

Neuron. 2015 Jan 7;85(1):88-100. doi: 10.1016/j.neuron.2014.12.031.

29.

Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies.

Meilleur KG, Jain MS, Hynan LS, Shieh CY, Kim E, Waite M, McGuire M, Fiorini C, Glanzman AM, Main M, Rose K, Duong T, Bendixen R, Linton MM, Arveson IC, Nichols C, Yang K, Fischbeck KH, Wagner KR, North K, Mankodi A, Grunseich C, Hartnett EJ, Smith M, Donkervoort S, Schindler A, Kokkinis A, Leach M, Foley AR, Collins J, Muntoni F, Rutkowski A, Bönnemann CG.

Neuromuscul Disord. 2015 Jan;25(1):43-54. doi: 10.1016/j.nmd.2014.09.010. Epub 2014 Sep 28.

30.

Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat.

Grunseich C, Kats IR, Bott LC, Rinaldi C, Kokkinis A, Fox D, Chen KL, Schindler AB, Mankodi AK, Shrader JA, Schwartz DP, Lehky TJ, Liu CY, Fischbeck KH.

Neuromuscul Disord. 2014 Nov;24(11):978-81. doi: 10.1016/j.nmd.2014.06.441. Epub 2014 Jul 3.

31.

Stem cell-derived motor neurons from spinal and bulbar muscular atrophy patients.

Grunseich C, Zukosky K, Kats IR, Ghosh L, Harmison GG, Bott LC, Rinaldi C, Chen KL, Chen G, Boehm M, Fischbeck KH.

Neurobiol Dis. 2014 Oct;70:12-20. doi: 10.1016/j.nbd.2014.05.038. Epub 2014 Jun 9.

32.

RNA-DNA differences are generated in human cells within seconds after RNA exits polymerase II.

Wang IX, Core LJ, Kwak H, Brady L, Bruzel A, McDaniel L, Richards AL, Wu M, Grunseich C, Lis JT, Cheung VG.

Cell Rep. 2014 Mar 13;6(5):906-15. doi: 10.1016/j.celrep.2014.01.037. Epub 2014 Feb 20.

33.

Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan Africa.

Sangaré M, Hendrickson B, Sango HA, Chen K, Nofziger J, Amara A, Dutra A, Schindler AB, Guindo A, Traoré M, Harmison G, Pak E, Yaro FN, Bricceno K, Grunseich C, Chen G, Boehm M, Zukosky K, Bocoum N, Meilleur KG, Daou F, Bagayogo K, Coulibaly YI, Diakité M, Fay MP, Lee HS, Saad A, Gribaa M, Singleton AB, Maiga Y, Auh S, Landouré G, Fairhurst RM, Burnett BG, Scholl T, Fischbeck KH.

Ann Neurol. 2014 Apr;75(4):525-32. doi: 10.1002/ana.24114. Epub 2014 Apr 2.

34.

Spinal and bulbar muscular atrophy: pathogenesis and clinical management.

Grunseich C, Rinaldi C, Fischbeck KH.

Oral Dis. 2014 Jan;20(1):6-9. doi: 10.1111/odi.12121. Epub 2013 May 9. Review.

35.

Cowchock syndrome is associated with a mutation in apoptosis-inducing factor.

Rinaldi C, Grunseich C, Sevrioukova IF, Schindler A, Horkayne-Szakaly I, Lamperti C, Landouré G, Kennerson ML, Burnett BG, Bönnemann C, Biesecker LG, Ghezzi D, Zeviani M, Fischbeck KH.

Am J Hum Genet. 2012 Dec 7;91(6):1095-102. doi: 10.1016/j.ajhg.2012.10.008.

36.

Tremor and deep brain nuclei hyperintensities in Kabuki syndrome.

Grunseich C, Fishbein TM, Berkowitz F, Shamim EA.

Pediatr Neurol. 2010 Aug;43(2):148-50. doi: 10.1016/j.pediatrneurol.2010.03.019.

PMID:
20610129
37.

Non-cell autonomous influence of MeCP2-deficient glia on neuronal dendritic morphology.

Ballas N, Lioy DT, Grunseich C, Mandel G.

Nat Neurosci. 2009 Mar;12(3):311-7. doi: 10.1038/nn.2275. Epub 2009 Feb 22.

38.

REST and its corepressors mediate plasticity of neuronal gene chromatin throughout neurogenesis.

Ballas N, Grunseich C, Lu DD, Speh JC, Mandel G.

Cell. 2005 May 20;121(4):645-657. doi: 10.1016/j.cell.2005.03.013.

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