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Items: 1 to 50 of 451

1.

A Mentor's perspective: It's not all about academic research-other careers for Ph. D.s in developmental biology and biological sciences.

Erickson RP.

Dev Biol. 2019 Oct 19. pii: S0012-1606(19)30485-3. doi: 10.1016/j.ydbio.2019.10.018. [Epub ahead of print] Review. No abstract available.

PMID:
31639335
2.

Distribution and Diffusion of Macromolecule Delivery to the Brain via Focused Ultrasound using Magnetic Resonance and Multispectral Fluorescence Imaging.

Valdez MA, Fernandez E, Matsunaga T, Erickson RP, Trouard TP.

Ultrasound Med Biol. 2020 Jan;46(1):122-136. doi: 10.1016/j.ultrasmedbio.2019.08.024. Epub 2019 Oct 2.

PMID:
31585767
3.

Decreased neural stem cell proliferation and olfaction in mouse models of Niemann-Pick C1 disease and the response to hydroxypropyl-β-cyclodextrin.

Dragotto J, Palladino G, Canterini S, Caporali P, Patil R, Fiorenza MT, Erickson RP.

J Appl Genet. 2019 Nov;60(3-4):357-365. doi: 10.1007/s13353-019-00517-8. Epub 2019 Sep 4.

PMID:
31485950
4.

Sex-limited penetrance of lymphedema to females with CELSR1 haploinsufficiency: A second family.

Erickson RP, Lai LW, Mustacich DJ, Bernas MJ, Kuo PH, Witte MH.

Clin Genet. 2019 Nov;96(5):478-482. doi: 10.1111/cge.13622. Epub 2019 Aug 23.

PMID:
31403174
5.

Co-treatment with probucol does not improve lung pathology in hydroxypropyl-β-cyclodextrin-treated Npc1-/- mice.

Erickson RP, Borbon IA.

J Appl Genet. 2019 May;60(2):175-178. doi: 10.1007/s13353-019-00487-x. Epub 2019 Feb 28.

PMID:
30815842
6.

From childhood onset lymphedema to fatal fetal hydrops: Possible modifying genes for a FOXC2 mutation.

Lai LW, Erickson RP, Bernas M, Witte MH.

Lymphology. 2018;51(2):85-88.

PMID:
30253460
7.

Do GWAS and studies of heterozygotes for NPC1 and/or NPC2 explain why NPC disease cases are so rare?

Erickson RP.

J Appl Genet. 2018 Nov;59(4):441-447. doi: 10.1007/s13353-018-0465-2. Epub 2018 Sep 13. Review.

PMID:
30209687
8.

The pathogenesis of lysosomal storage disorders: beyond the engorgement of lysosomes to abnormal development and neuroinflammation.

Fiorenza MT, Moro E, Erickson RP.

Hum Mol Genet. 2018 Aug 1;27(R2):R119-R129. doi: 10.1093/hmg/ddy155. Review.

PMID:
29718288
9.
10.

In Niemann-Pick C1 mouse models, glial-only expression of the normal gene extends survival much further than do changes in genetic background or treatment with hydroxypropyl-beta-cyclodextrin.

Marshall CA, Watkins-Chow DE, Palladino G, Deutsch G, Chandran K, Pavan WJ, Erickson RP.

Gene. 2018 Feb 15;643:117-123. doi: 10.1016/j.gene.2017.12.006. Epub 2017 Dec 6.

PMID:
29223359
11.

Pediatric Cytochrome P450 Activity Alterations in Nonalcoholic Steatohepatitis.

Li H, Canet MJ, Clarke JD, Billheimer D, Xanthakos SA, Lavine JE, Erickson RP, Cherrington NJ.

Drug Metab Dispos. 2017 Dec;45(12):1317-1325. doi: 10.1124/dmd.117.077644. Epub 2017 Oct 6.

12.

A hopeful therapy for Niemann-Pick C diseases.

Erickson RP, Fiorenza MT.

Lancet. 2017 Oct 14;390(10104):1720-1721. doi: 10.1016/S0140-6736(17)31631-8. Epub 2017 Aug 10. No abstract available.

PMID:
28803711
13.

Quantitative magnetic resonance imaging of brain atrophy in a mouse model of Niemann-Pick type C disease.

Totenhagen JW, Bernstein A, Yoshimaru ES, Erickson RP, Trouard TP.

PLoS One. 2017 May 24;12(5):e0178179. doi: 10.1371/journal.pone.0178179. eCollection 2017.

14.

Shortened primary cilium length and dysregulated Sonic hedgehog signaling in Niemann-Pick C1 disease.

Canterini S, Dragotto J, Dardis A, Zampieri S, De Stefano ME, Mangia F, Erickson RP, Fiorenza MT.

Hum Mol Genet. 2017 Jun 15;26(12):2277-2289. doi: 10.1093/hmg/ddx118.

PMID:
28379564
15.

Relative efficacy of nicotinamide treatment of a mouse model of infantile Niemann-Pick C1 disease.

Marshall CA, Borbon IA, Erickson RP.

J Appl Genet. 2017 Feb;58(1):99-102. doi: 10.1007/s13353-016-0367-0. Epub 2016 Oct 25.

PMID:
27783333
16.

Developmental delay in motor skill acquisition in Niemann-Pick C1 mice reveals abnormal cerebellar morphogenesis.

Caporali P, Bruno F, Palladino G, Dragotto J, Petrosini L, Mangia F, Erickson RP, Canterini S, Fiorenza MT.

Acta Neuropathol Commun. 2016 Sep 1;4(1):94. doi: 10.1186/s40478-016-0370-z.

17.

Low-noise kinetic inductance traveling-wave amplifier using three-wave mixing.

Vissers MR, Erickson RP, Ku HS, Vale L, Wu X, Hilton G, Pappas DP.

Appl Phys Lett. 2016;108. pii: 012601. Epub 2016 Jan 5.

18.

The importance of de novo mutations for pediatric neurological disease--It is not all in utero or birth trauma.

Erickson RP.

Mutat Res Rev Mutat Res. 2016 Jan-Mar;767:42-58. doi: 10.1016/j.mrrev.2015.12.002. Epub 2016 Jan 4. Review.

PMID:
27036065
19.

Extensive macrophage accumulation in young and old Niemann-Pick C1 model mice involves the alternative, M2, activation pathway and inhibition of macrophage apoptosis.

Deutsch G, Muralidhar A, Le E, Borbon IA, Erickson RP.

Gene. 2016 Mar 10;578(2):242-50. doi: 10.1016/j.gene.2015.12.033. Epub 2015 Dec 18.

20.

Crowd-Sourcing Syncope Diagnosis: Mobile Smartphone ECG Apps.

Nyotowidjojo I, Erickson RP, Lee KS.

Am J Med. 2016 Apr;129(4):e17-8. doi: 10.1016/j.amjmed.2015.11.022. Epub 2015 Dec 17. No abstract available.

PMID:
26706387
21.

Association Study of Genotype by Depressive Response during Tryptophan Depletion in Subjects Recovered from Major Depression.

Moreno FA, Erickson RP, Garriock HA, Gelernter J, Mintz J, Oas-Terpstra J, Davies MA, Delgado PL.

Mol Neuropsychiatry. 2015 Oct;1(3):165-174. Epub 2015 Sep 24.

22.

Visual evoked potentials of Niemann-Pick type C1 mice reveal an impairment of the visual pathway that is rescued by 2-hydroxypropyl-ß-cyclodextrin.

Palladino G, Loizzo S, Fortuna A, Canterini S, Palombi F, Erickson RP, Mangia F, Fiorenza MT.

Orphanet J Rare Dis. 2015 Oct 12;10:133. doi: 10.1186/s13023-015-0348-0.

23.

Next generation sequencing is here now.

Erickson RP.

Lymphology. 2014 Dec;47(4):196-7.

PMID:
25915980
24.

Altered regulation of hepatic efflux transporters disrupts acetaminophen disposition in pediatric nonalcoholic steatohepatitis.

Canet MJ, Merrell MD, Hardwick RN, Bataille AM, Campion SN, Ferreira DW, Xanthakos SA, Manautou JE, A-Kader HH, Erickson RP, Cherrington NJ.

Drug Metab Dispos. 2015 Jun;43(6):829-35. doi: 10.1124/dmd.114.062703. Epub 2015 Mar 18.

25.

Evaluation of submarine atmospheres: effects of carbon monoxide, carbon dioxide and oxygen on general toxicology, neurobehavioral performance, reproduction and development in rats. II. Ninety-day study.

Hardt DJ, James RA, Gut CP Jr, McInturf SM, Sweeney LM, Erickson RP, Gargas ML.

Inhal Toxicol. 2015 Feb;27(3):121-37. doi: 10.3109/08958378.2014.999294. Epub 2015 Feb 17.

PMID:
25687554
26.

Evaluation of submarine atmospheres: effects of carbon monoxide, carbon dioxide and oxygen on general toxicology, neurobehavioral performance, reproduction and development in rats. I. Subacute exposures.

Hardt DJ, James RA, Gut CP Jr, McInturf SM, Sweeney LM, Erickson RP, Gargas ML.

Inhal Toxicol. 2015 Feb;27(2):83-99. doi: 10.3109/08958378.2014.995386.

PMID:
25600219
27.

Frequency comb generation in superconducting resonators.

Erickson RP, Vissers MR, Sandberg M, Jefferts SR, Pappas DP.

Phys Rev Lett. 2014 Oct 31;113(18):187002. Epub 2014 Oct 30.

PMID:
25396390
28.

A five generation family with a novel mutation in FOXC2 and lymphedema worsening to hydrops in the youngest generation.

Sargent C, Bauer J, Khalil M, Filmore P, Bernas M, Witte M, Pearson MP, Erickson RP.

Am J Med Genet A. 2014 Nov;164A(11):2802-7. doi: 10.1002/ajmg.a.36736. Epub 2014 Sep 22.

29.

A novel FLT4 mutation identified in a patient with Milroy disease.

DiGiovanni RM, Erickson RP, Ohlson EC, Bernas M, Witte MH.

Lymphology. 2014 Mar;47(1):44-7.

PMID:
25109169
30.

Recent advances in the study of somatic mosaicism and diseases other than cancer.

Erickson RP.

Curr Opin Genet Dev. 2014 Jun;26:73-8. doi: 10.1016/j.gde.2014.06.001. Epub 2014 Jul 20. Review.

PMID:
25050467
31.

Dysregulation of testicular cholesterol metabolism following spontaneous mutation of the niemann-pick c1 gene in mice.

Akpovi CD, Murphy BD, Erickson RP, Pelletier RM.

Biol Reprod. 2014 Aug;91(2):42. doi: 10.1095/biolreprod.114.119412. Epub 2014 Jul 9.

PMID:
25009206
32.

A marked paucity of granule cells in the developing cerebellum of the Npc1(-/-) mouse is corrected by a single injection of hydroxypropyl-β-cyclodextrin.

Nusca S, Canterini S, Palladino G, Bruno F, Mangia F, Erickson RP, Fiorenza MT.

Neurobiol Dis. 2014 Oct;70:117-26. doi: 10.1016/j.nbd.2014.06.012. Epub 2014 Jun 24.

33.

Cholesterol metabolism-associated molecules in late onset Alzheimer's disease.

Fiorenza MT, Dardis A, Canterini S, Erickson RP.

J Biol Regul Homeost Agents. 2013 Apr-Jun;27(2 Suppl):23-35.

PMID:
24813313
34.

The low frequency of recessive disease: insights from ENU mutagenesis, severity of disease phenotype, GWAS associations, and demography: an analytical review.

Erickson RP, Mitchison NA.

J Appl Genet. 2014 Aug;55(3):319-27. doi: 10.1007/s13353-014-0203-3. Epub 2014 Mar 21. Review.

PMID:
24652618
35.

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.

Veeramah KR, Johnstone L, Karafet TM, Wolf D, Sprissler R, Salogiannis J, Barth-Maron A, Greenberg ME, Stuhlmann T, Weinert S, Jentsch TJ, Pazzi M, Restifo LL, Talwar D, Erickson RP, Hammer MF.

Epilepsia. 2013 Jul;54(7):1270-81. doi: 10.1111/epi.12201. Epub 2013 May 3.

36.

Filament-filament switching can be regulated by separation between filaments together with cargo motor number.

Erickson RP, Gross SP, Yu CC.

PLoS One. 2013;8(2):e54298. doi: 10.1371/journal.pone.0054298. Epub 2013 Feb 14.

37.

Current controversies in Niemann-Pick C1 disease: steroids or gangliosides; neurons or neurons and glia.

Erickson RP.

J Appl Genet. 2013 May;54(2):215-24. doi: 10.1007/s13353-012-0130-0. Epub 2013 Jan 5. Review.

PMID:
23292954
38.

(1) H magnetic resonance spectroscopy of neurodegeneration in a mouse model of niemann-pick type C1 disease.

Totenhagen JW, Yoshimaru ES, Erickson RP, Trouard TP.

J Magn Reson Imaging. 2013 May;37(5):1195-201. doi: 10.1002/jmri.23902. Epub 2012 Nov 16.

39.

X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations.

Pauws E, Peskett E, Boissin C, Hoshino A, Mengrelis K, Carta E, Abruzzo MA, Lees M, Moore GE, Erickson RP, Stanier P.

Clin Genet. 2013 Apr;83(4):352-8. doi: 10.1111/j.1399-0004.2012.01930.x. Epub 2012 Aug 7.

PMID:
22784330
40.
41.

The role of decreased levels of Niemann-Pick C1 intracellular cholesterol transport on obesity is reversed in the C57BL/6J, metabolic syndrome mouse strain: a metabolic or an inflammatory effect?

Borbon I, Campbell E, Ke W, Erickson RP.

J Appl Genet. 2012 Aug;53(3):323-30. doi: 10.1007/s13353-012-0099-8. Epub 2012 May 15.

PMID:
22585185
42.

Niemann-Pick C1 mice, a model of "juvenile Alzheimer's disease", with normal gene expression in neurons and fibrillary astrocytes show long term survival and delayed neurodegeneration.

Borbon I, Totenhagen J, Fiorenza MT, Canterini S, Ke W, Trouard T, Erickson RP.

J Alzheimers Dis. 2012;30(4):875-87. doi: 10.3233/JAD-2012-120199.

PMID:
22495346
43.

De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.

Veeramah KR, O'Brien JE, Meisler MH, Cheng X, Dib-Hajj SD, Waxman SG, Talwar D, Girirajan S, Eichler EE, Restifo LL, Erickson RP, Hammer MF.

Am J Hum Genet. 2012 Mar 9;90(3):502-10. doi: 10.1016/j.ajhg.2012.01.006. Epub 2012 Feb 23.

44.

Lack of efficacy of curcumin on neurodegeneration in the mouse model of Niemann-Pick C1.

Borbon IA, Hillman Z, Duran E Jr, Kiela PR, Frautschy SA, Erickson RP.

Pharmacol Biochem Behav. 2012 Mar;101(1):125-31. doi: 10.1016/j.pbb.2011.12.009. Epub 2011 Dec 17.

45.

Mice deleted for heart-type cytochrome c oxidase subunit 7a1 develop dilated cardiomyopathy.

Hüttemann M, Klewer S, Lee I, Pecinova A, Pecina P, Liu J, Lee M, Doan JW, Larson D, Slack E, Maghsoodi B, Erickson RP, Grossman LI.

Mitochondrion. 2012 Mar;12(2):294-304. doi: 10.1016/j.mito.2011.11.002. Epub 2011 Nov 20.

46.

A novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations.

Maue RA, Burgess RW, Wang B, Wooley CM, Seburn KL, Vanier MT, Rogers MA, Chang CC, Chang TY, Harris BT, Graber DJ, Penatti CA, Porter DM, Szwergold BS, Henderson LP, Totenhagen JW, Trouard TP, Borbon IA, Erickson RP.

Hum Mol Genet. 2012 Feb 15;21(4):730-50. doi: 10.1093/hmg/ddr505. Epub 2011 Nov 2.

47.

In vivo assessment of neurodegeneration in Niemann-Pick type C mice by quantitative T2 mapping and diffusion tensor imaging.

Totenhagen JW, Lope-Piedrafita S, Borbon IA, Yoshimaru ES, Erickson RP, Trouard TP.

J Magn Reson Imaging. 2012 Mar;35(3):528-36. doi: 10.1002/jmri.22837. Epub 2011 Nov 1.

48.

Genetic variation in the mouse model of Niemann Pick C1 affects female, as well as male, adiposity, and hepatic bile transporters but has indeterminate effects on caveolae.

Jelinek DA, Maghsoodi B, Borbon IA, Hardwick RN, Cherrington NJ, Erickson RP.

Gene. 2012 Jan 10;491(2):128-34. doi: 10.1016/j.gene.2011.10.010. Epub 2011 Oct 14.

49.

Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting.

Saadi I, Alkuraya FS, Gisselbrecht SS, Goessling W, Cavallesco R, Turbe-Doan A, Petrin AL, Harris J, Siddiqui U, Grix AW Jr, Hove HD, Leboulch P, Glover TW, Morton CC, Richieri-Costa A, Murray JC, Erickson RP, Maas RL.

Am J Hum Genet. 2011 Jul 15;89(1):44-55. doi: 10.1016/j.ajhg.2011.05.023. Epub 2011 Jun 23.

50.

Insulin receptor-related (Irr) is expressed in pre-implantation embryos: a possible relationship to "growth factor Y" and sex determination.

Erickson RP, Strnatka D.

Mol Reprod Dev. 2011 Aug;78(8):552. doi: 10.1002/mrd.21334. Epub 2011 Jun 16. No abstract available.

PMID:
21681845

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