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Items: 19

1.

Neuronal network dysfunction precedes storage and neurodegeneration in a lysosomal storage disorder.

Ahrens-Nicklas RC, Tecedor L, Hall AF, Lysenko E, Cohen AS, Davidson BL, Marsh ED.

JCI Insight. 2019 Nov 1;4(21). pii: 131961. doi: 10.1172/jci.insight.131961.

2.

Clinical utility of exome sequencing in infantile heart failure.

Ritter A, Bedoukian E, Berger JH, Copenheaver D, Gray C, Krantz I, Izumi K, Juusola J, Leonard J, Lin K, Medne L, Santani A, Skraban C, Yang S, Ahrens-Nicklas RC.

Genet Med. 2019 Sep 17. doi: 10.1038/s41436-019-0654-3. [Epub ahead of print]

PMID:
31527676
3.

Disruption of cardiac thin filament assembly arising from a mutation in LMOD2: A novel mechanism of neonatal dilated cardiomyopathy.

Ahrens-Nicklas RC, Pappas CT, Farman GP, Mayfield RM, Larrinaga TM, Medne L, Ritter A, Krantz ID, Murali C, Lin KY, Berger JH, Yum SW, Carreon CK, Gregorio CC.

Sci Adv. 2019 Sep 4;5(9):eaax2066. doi: 10.1126/sciadv.aax2066. eCollection 2019 Sep.

4.

Imaging of non-neuronopathic Gaucher disease: recent advances in quantitative imaging and comprehensive assessment of disease involvement.

Degnan AJ, Ho-Fung VM, Ahrens-Nicklas RC, Barrera CA, Serai SD, Wang DJ, Ficicioglu C.

Insights Imaging. 2019 Jul 10;10(1):70. doi: 10.1186/s13244-019-0743-5. Review.

5.

Case 2: Severe Hyperammonemia in a Neonate: An Alternate Ending.

Sheppard S, Herrick H, Ahrens-Nicklas RC, Cohen JL, Flibbotte J, Pyle LC.

Neoreviews. 2019 Feb;20(2):e90-e92. doi: 10.1542/neo.20-2-e90. No abstract available.

6.

Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening.

Ahrens-Nicklas RC, Ganetzky RD, Rush PW, Conway RL, Ficicioglu C.

J Inherit Metab Dis. 2019 Jan;42(1):140-146. doi: 10.1002/jimd.12035. Erratum in: J Inherit Metab Dis. 2019 Sep;42(5):1040.

7.

Publisher Correction: Stimulation of entorhinal cortex-dentate gyrus circuitry is antidepressive.

Yun S, Reynolds RP, Petrof I, White A, Rivera PD, Segev A, Gibson AD, Suarez M, DeSalle MJ, Ito N, Mukherjee S, Richardson DR, Kang CE, Ahrens-Nicklas RC, Soler I, Chetkovich DM, Kourrich S, Coulter DA, Eisch AJ.

Nat Med. 2018 Sep;24(9):1482. doi: 10.1038/s41591-018-0084-9.

PMID:
29934536
8.

Stimulation of entorhinal cortex-dentate gyrus circuitry is antidepressive.

Yun S, Reynolds RP, Petrof I, White A, Rivera PD, Segev A, Gibson AD, Suarez M, DeSalle MJ, Ito N, Mukherjee S, Richardson DR, Kang CE, Ahrens-Nicklas RC, Soler I, Chetkovich DM, Kourrich S, Coulter DA, Eisch AJ.

Nat Med. 2018 May;24(5):658-666. doi: 10.1038/s41591-018-0002-1. Epub 2018 Apr 16. Erratum in: Nat Med. 2018 Sep;24(9):1482.

9.

Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1.

Ahrens-Nicklas RC, Umanah GK, Sondheimer N, Deardorff MA, Wilkens AB, Conlin LK, Santani AB, Nesbitt A, Juulsola J, Ma E, Dawson TM, Dawson VL, Marsh ED.

Neurol Genet. 2017 Feb 1;3(1):e130. doi: 10.1212/NXG.0000000000000130. eCollection 2017 Feb.

10.

Efficacy of early treatment in patients with cobalamin C disease identified by newborn screening: a 16-year experience.

Ahrens-Nicklas RC, Whitaker AM, Kaplan P, Cuddapah S, Burfield J, Blair J, Brochi L, Yudkoff M, Ficicioglu C.

Genet Med. 2017 Aug;19(8):926-935. doi: 10.1038/gim.2016.214. Epub 2017 Feb 2.

11.

Response to van Rijt et al.

Ahrens-Nicklas RC, Pyle LC, Ficicioglu C.

Genet Med. 2016 Dec;18(12):1324. doi: 10.1038/gim.2016.144. Epub 2016 Sep 22. No abstract available.

PMID:
27657679
12.

Utility of genetic evaluation in infants with congenital heart defects admitted to the cardiac intensive care unit.

Ahrens-Nicklas RC, Khan S, Garbarini J, Woyciechowski S, D'Alessandro L, Zackai EH, Deardorff MA, Goldmuntz E.

Am J Med Genet A. 2016 Dec;170(12):3090-3097. doi: 10.1002/ajmg.a.37891. Epub 2016 Sep 8.

PMID:
27605484
13.

Morbidity and mortality among exclusively breastfed neonates with medium-chain acyl-CoA dehydrogenase deficiency.

Ahrens-Nicklas RC, Pyle LC, Ficicioglu C.

Genet Med. 2016 Dec;18(12):1315-1319. doi: 10.1038/gim.2016.49. Epub 2016 May 5.

14.

Atypical Williams syndrome in an infant with complete atrioventricular canal defect.

Ahrens-Nicklas RC, Reichert SL, Zackai EH, Kaplan PB.

Am J Med Genet A. 2015 Dec;167A(12):3108-12. doi: 10.1002/ajmg.a.37288. Epub 2015 Aug 14.

PMID:
26271350
15.

An 8-year-old girl with abdominal pain and mental status changes.

Ahrens-Nicklas RC, Edmondson AC, Ficicioglu C.

Pediatr Emerg Care. 2015 Jun;31(6):459-62. doi: 10.1097/PEC.0000000000000504. Review. No abstract available.

PMID:
26035505
16.

Adolescent presentations of inborn errors of metabolism.

Ahrens-Nicklas RC, Slap G, Ficicioglu C.

J Adolesc Health. 2015 May;56(5):477-82. doi: 10.1016/j.jadohealth.2015.01.008. Review.

PMID:
25907648
17.

Cobalamin C Disease Missed by Newborn Screening in a Patient with Low Carnitine Level.

Ahrens-Nicklas RC, Serdaroglu E, Muraresku C, Ficicioglu C.

JIMD Rep. 2015;23:71-5. doi: 10.1007/8904_2015_429. Epub 2015 Mar 13.

18.

Anthropomorphizing the mouse cardiac action potential via a novel dynamic clamp method.

Ahrens-Nicklas RC, Christini DJ.

Biophys J. 2009 Nov 18;97(10):2684-92. doi: 10.1016/j.bpj.2009.09.002.

19.

Re-evaluating the efficacy of beta-adrenergic agonists and antagonists in long QT-3 syndrome through computational modelling.

Ahrens-Nicklas RC, Clancy CE, Christini DJ.

Cardiovasc Res. 2009 Jun 1;82(3):439-47. doi: 10.1093/cvr/cvp083. Epub 2009 Mar 5.

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