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Items: 1 to 20 of 87

1.

Pathogenic mutations in NUBPL affect complex I activity and cold tolerance in the yeast model Yarrowia lipolytica.

Maclean AE, Kimonis VE, Balk J.

Hum Mol Genet. 2018 Nov 1;27(21):3697-3709. doi: 10.1093/hmg/ddy247.

2.

Myogenic differentiation of VCP disease-induced pluripotent stem cells: A novel platform for drug discovery.

Llewellyn KJ, Nalbandian A, Weiss LN, Chang I, Yu H, Khatib B, Tan B, Scarfone V, Kimonis VE.

PLoS One. 2017 Jun 2;12(6):e0176919. doi: 10.1371/journal.pone.0176919. eCollection 2017.

3.

Two cases of Legg-Perthes and intellectual disability in Tricho-Rhino-Phalangeal syndrome type 1 associated with novel TRPS1 mutations.

Gilman JL, Newman HA, Freeman R, Singh KE, Puckett RL, Morohashi DK, Stein C, Palomino K, Lebel RR, Kimonis VE.

Am J Med Genet A. 2017 Jun;173(6):1663-1667. doi: 10.1002/ajmg.a.38204. Epub 2017 Mar 3.

PMID:
28256045
4.

Prader-Willi Syndrome due to an Unbalanced de novo Translocation t(15;19)(q12;p13.3).

Dang V, Surampalli A, Manzardo AM, Youn S, Butler MG, Gold JA, Kimonis VE.

Cytogenet Genome Res. 2016;150(1):29-34. doi: 10.1159/000452611. Epub 2016 Nov 29.

5.

Activation of the NLRP3 Inflammasome Is Associated with Valosin-Containing Protein Myopathy.

Nalbandian A, Khan AA, Srivastava R, Llewellyn KJ, Tan B, Shukr N, Fazli Y, Kimonis VE, BenMohamed L.

Inflammation. 2017 Feb;40(1):21-41. doi: 10.1007/s10753-016-0449-5.

6.

The Myoblast C2C12 Transfected with Mutant Valosin-Containing Protein Exhibits Delayed Stress Granule Resolution on Oxidative Stress.

Rodriguez-Ortiz CJ, Flores JC, Valenzuela JA, Rodriguez GJ, Zumkehr J, Tran DN, Kimonis VE, Kitazawa M.

Am J Pathol. 2016 Jun;186(6):1623-34. doi: 10.1016/j.ajpath.2016.02.007. Epub 2016 Apr 20.

7.

A Fine Balance of Dietary Lipids Improves Pathology of a Murine Model of VCP-Associated Multisystem Proteinopathy.

Llewellyn KJ, Walker N, Nguyen C, Tan B, BenMohamed L, Kimonis VE, Nalbandian A.

PLoS One. 2015 Jul 2;10(7):e0131995. doi: 10.1371/journal.pone.0131995. eCollection 2015.

8.

Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review.

El-Hattab AW, Schaaf CP, Fang P, Roeder E, Kimonis VE, Church JA, Patel A, Cheung SW.

BMC Med Genet. 2015 Mar 14;16:12. doi: 10.1186/s12881-015-0157-2.

9.

Rapamycin and chloroquine: the in vitro and in vivo effects of autophagy-modifying drugs show promising results in valosin containing protein multisystem proteinopathy.

Nalbandian A, Llewellyn KJ, Nguyen C, Yazdi PG, Kimonis VE.

PLoS One. 2015 Apr 17;10(4):e0122888. doi: 10.1371/journal.pone.0122888. eCollection 2015.

10.

In vitro studies in VCP-associated multisystem proteinopathy suggest altered mitochondrial bioenergetics.

Nalbandian A, Llewellyn KJ, Gomez A, Walker N, Su H, Dunnigan A, Chwa M, Vesa J, Kenney MC, Kimonis VE.

Mitochondrion. 2015 May;22:1-8. doi: 10.1016/j.mito.2015.02.004. Epub 2015 Feb 25.

PMID:
25724235
11.

Administration of CoQ10 analogue ameliorates dysfunction of the mitochondrial respiratory chain in a mouse model of Angelman syndrome.

Llewellyn KJ, Nalbandian A, Gomez A, Wei D, Walker N, Kimonis VE.

Neurobiol Dis. 2015 Apr;76:77-86. doi: 10.1016/j.nbd.2015.01.005. Epub 2015 Feb 12. Erratum in: Neurobiol Dis. 2015 Jun;78():56.

PMID:
25684537
12.

Targeted excision of VCP R155H mutation by Cre-LoxP technology as a promising therapeutic strategy for valosin-containing protein disease.

Nalbandian A, Llewellyn KJ, Nguyen C, Monuki ES, Kimonis VE.

Hum Gene Ther Methods. 2015 Feb;26(1):13-24. doi: 10.1089/hgtb.2014.096.

13.

Global gene expression profiling in R155H knock-in murine model of VCP disease.

Nalbandian A, Ghimbovschi S, Wang Z, Knoblach S, Llewellyn KJ, Vesa J, Hoffman EP, Kimonis VE.

Clin Transl Sci. 2015 Feb;8(1):8-16. doi: 10.1111/cts.12241. Epub 2014 Nov 12.

14.

Amelioration of the typical cognitive phenotype in a patient with the 5pter deletion associated with Cri-du-chat syndrome in addition to a partial duplication of CTNND2.

Sardina JM, Walters AR, Singh KE, Owen RX, Kimonis VE.

Am J Med Genet A. 2014 Jul;164A(7):1761-4. doi: 10.1002/ajmg.a.36494. Epub 2014 Mar 26.

PMID:
24677774
15.

Effect of genetic subtypes and growth hormone treatment on bone mineral density in Prader-Willi syndrome.

Khare M, Gold JA, Wencel M, Billimek J, Surampalli A, Duarte B, Pontello A, Galassetti P, Cassidy S, Kimonis VE.

J Pediatr Endocrinol Metab. 2014 May;27(5-6):511-8. doi: 10.1515/jpem-2013-0180.

PMID:
24515997
16.

Lipid-enriched diet rescues lethality and slows down progression in a murine model of VCP-associated disease.

Llewellyn KJ, Nalbandian A, Jung KM, Nguyen C, Avanesian A, Mozaffar T, Piomelli D, Kimonis VE.

Hum Mol Genet. 2014 Mar 1;23(5):1333-44. doi: 10.1093/hmg/ddt523. Epub 2013 Oct 24.

17.

Exercise training reverses skeletal muscle atrophy in an experimental model of VCP disease.

Nalbandian A, Nguyen C, Katheria V, Llewellyn KJ, Badadani M, Caiozzo V, Kimonis VE.

PLoS One. 2013 Oct 9;8(10):e76187. doi: 10.1371/journal.pone.0076187. eCollection 2013.

18.

Differential gene expression reveals mitochondrial dysfunction in an imprinting center deletion mouse model of Prader-Willi syndrome.

Yazdi PG, Su H, Ghimbovschi S, Fan W, Coskun PE, Nalbandian A, Knoblach S, Resnick JL, Hoffman E, Wallace DC, Kimonis VE.

Clin Transl Sci. 2013 Oct;6(5):347-55. doi: 10.1111/cts.12083. Epub 2013 Jul 29.

19.

Frequency of Prader-Willi syndrome in births conceived via assisted reproductive technology.

Gold JA, Ruth C, Osann K, Flodman P, McManus B, Lee HS, Donkervoort S, Khare M, Roof E, Dykens E, Miller JL, Driscoll DJ, Butler MG, Heinemann J, Cassidy S, Kimonis VE.

Genet Med. 2014 Feb;16(2):164-9. doi: 10.1038/gim.2013.97. Epub 2013 Aug 8. Erratum in: Genet Med. 2013 Nov;15(11):912. Miller, Jennifer L [added].

20.

Early-onset Alzheimers and cortical vision impairment in a woman with valosin-containing protein disease associated with 2 APOE ε4/APOE ε4 genotype.

Shamirian S, Nalbandian A, Khare M, Castellani R, Kim R, Kimonis VE.

Alzheimer Dis Assoc Disord. 2015 Jan-Mar;29(1):90-3. doi: 10.1097/WAD.0b013e318298e54f.

PMID:
23715207

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