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Select item 82468781.

Clinical presentation and long‐term follow‐up of dopamine beta hydroxylase deficiency

Tessa Wassenberg, Jaap Deinum, Frans J. van Ittersum, Erik‐Jan Kamsteeg, Maartje Pennings, Marcel M. Verbeek, Ron A. Wevers, Mirjam E. van Albada, Ido P. Kema, Jorie Versmissen, Ton van den Meiracker, Jacques W.M. Lenders, Leo Monnens, Michèl A. Willemsen

J Inherit Metab Dis. 2021 May; 44(3): 554–565. Published online 2020 Oct 15. doi: 10.1002/jimd.12321

PMCID:: PMC8246878

Abstract Article PDF–1.5M

Select item 54130932.

Hyperinsulinemia and Insulin Resistance in Dopamine β-Hydroxylase Deficiency

Amy C. Arnold, Emily M. Garland, Jorge E. Celedonio, Satish R. Raj, Naji N. Abumrad, Italo Biaggioni, David Robertson, James M. Luther, Cyndya A. Shibao

J Clin Endocrinol Metab. 2017 Jan 1; 102(1): 10–14. Published online 2016 Oct 25. doi: 10.1210/jc.2016-3274

PMCID:: PMC5413093

Abstract Article

Select item 50743793.

NOREPINEPHRINE DEFICIENCY WITH NORMAL BLOOD PRESSURE CONTROL IN CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS

Lucy Norcliffe-Kaufmann, Stuart D. Katz, Felicia Axelrod, Horacio Kaufmann

Ann Neurol. Author manuscript; available in PMC 2016 Oct 21.

Published in final edited form as: Ann Neurol. 2015 May; 77(5): 743–752. Published online 2015 Mar 13. doi: 10.1002/ana.24377

PMCID:: PMC5074379

Abstract Article PDF–2.3M

Select item 45310794.

Aging-associated formaldehyde-induced norepinephrine deficiency contributes to age-related memory decline

Yufei Mei, Chun Jiang, You Wan, Jihui Lv, Jianping Jia, Xiaomin Wang, Xu Yang, Zhiqian Tong

Aging Cell. 2015 Aug; 14(4): 659–668. Published online 2015 Apr 11. doi: 10.1111/acel.12345

PMCID:: PMC4531079

Abstract Article PDF–1.0M

Select item 31386655.

Neurocognitive Function in Dopamine-β-Hydroxylase Deficiency

Marieke Jepma, Jaap Deinum, Christopher L Asplund, Serge ARB Rombouts, Jouke T Tamsma, Nathanja Tjeerdema, Michiel M Spapé, Emily M Garland, David Robertson, Jacques WM Lenders, Sander Nieuwenhuis

Neuropsychopharmacology. 2011 Jul; 36(8): 1608–1619. Published online 2011 Apr 6. doi: 10.1038/npp.2011.42

PMCID:: PMC3138665

Abstract Article PDF–565K

Select item 30590686.

Norepinephrine Deficiency Is Caused by Combined Abnormal mRNA Processing and Defective Protein Trafficking of Dopamine β-Hydroxylase

Chun-Hyung Kim, Amanda Leung, Yang Hoon Huh, Eungi Yang, Deog-Joong Kim, Pierre Leblanc, Hoon Ryu, Kyungjin Kim, Dong-Wook Kim, Emily M. Garland, Satish R. Raj, Italo Biaggioni, David Robertson, Kwang-Soo Kim

J Biol Chem. 2011 Mar 18; 286(11): 9196–9204. Published online 2011 Jan 5. doi: 10.1074/jbc.M110.192351

PMCID:: PMC3059068

Abstract Article PDF–1.1M

Select item 14591197.

Dopamine beta-hydroxylase deficiency

Jean-Michel Senard, Philippe Rouet

Orphanet J Rare Dis. 2006; 1: 7. Published online 2006 Mar 30. doi: 10.1186/1750-1172-1-7

PMCID:: PMC1459119

Abstract Article PDF–218K

Select item 1297908.

Mice with chronic norepinephrine deficiency resemble amphetamine-sensitized animals

David Weinshenker, Nicole S. Miller, Katherine Blizinsky, Marc L. Laughlin, Richard D. Palmiter

Proc Natl Acad Sci U S A. 2002 Oct 15; 99(21): 13873–13877. Published online 2002 Oct 7. doi: 10.1073/pnas.212519999

PMCID:: PMC129790

Abstract Article PDF–277K

Select item 267739.

Dopamine β-hydroxylase deficiency impairs cellular immunity

Robert C. Alaniz, Steven A. Thomas, Mercedes Perez-Melgosa, Kai Mueller, Andrew G. Farr, Richard D. Palmiter, Christopher B. Wilson

Proc Natl Acad Sci U S A. 1999 Mar 2; 96(5): 2274–2278. doi: 10.1073/pnas.96.5.2274

PMCID:: PMC26773

Abstract Article PDF–102K

Select item 592447610.

Mutations in CYB561 Causing a Novel Orthostatic Hypotension Syndrome

Maarten P. van den Berg, Rowida Almomani, Italo Biaggioni, Martijn van Faassen, Pim van der Harst, Herman H.W. Silljé, Irene Mateo Leach, Marc H. Hemmelder, Gerjan Navis, Gert Jan Luijckx, Arjan P.M. de Brouwer, Hanka Venselaar, Marcel M. Verbeek, Paul A. van der Zwaag, Jan D.H. Jongbloed, J. Peter van Tintelen, Ron A. Wevers, Ido P. Kema

Circ Res. Author manuscript; available in PMC 2019 Mar 16.

Published in final edited form as: Circ Res. 2018 Mar 16; 122(6): 846–854. Published online 2018 Jan 17. doi: 10.1161/CIRCRESAHA.117.311949

PMCID:: PMC5924476

Abstract Article PDF–2.8M

Select item 485793111.

Human Bacterial Artificial Chromosome (BAC) Transgenesis Fully Rescues Noradrenergic Function in Dopamine β-Hydroxylase Knockout Mice

Joseph F. Cubells, Jason P. Schroeder, Elizabeth S. Barrie, Daniel F. Manvich, Wolfgang Sadee, Tiina Berg, Kristina Mercer, Taylor A. Stowe, L. Cameron Liles, Katherine E. Squires, Andrew Mezher, Patrick Curtin, Dannie L. Perdomo, Patricia Szot, David Weinshenker

PLoS One. 2016; 11(5): e0154864. Published online 2016 May 5. doi: 10.1371/journal.pone.0154864

PMCID:: PMC4857931

Abstract Article PDF–849K

Select item 303441112.

A cross-sectional study contrasting olfactory function in autonomic disorders

E.M. Garland, S.R. Raj, A.C. Peltier, D. Robertson, I. Biaggioni

Neurology. 2011 Feb 1; 76(5): 456–460. doi: 10.1212/WNL.0b013e31820a0caf

PMCID:: PMC3034411

Abstract Article PDF–225K

Select item 103183413.

The effect of orthostatic hypotension on cerebral blood flow and middle cerebral artery velocity in autonomic failure, with observations on the action of ephedrine.

D J Brooks, S Redmond, C J Mathias, R Bannister, L Symon

J Neurol Neurosurg Psychiatry. 1989 Aug; 52(8): 962–966. doi: 10.1136/jnnp.52.8.962

PMCID:: PMC1031834

Summary Page Browse PDF–671K

Select item 15059814.

Genomic organization of ATOX1, a human copper chaperone

Po-Ching Liu, David M Koeller, Stephen G Kaler

BMC Genet. 2003; 4: 4. Published online 2003 Feb 5. doi: 10.1186/1471-2156-4-4

PMCID:: PMC150598

Abstract Article PDF–237K

Select item 972340615.

Locus coeruleus integrity correlates with inhibitory functions of the fronto-subthalamic ‘hyperdirect’ pathway in Parkinson’s disease

Biman Xu, Tingting He, Yuan Lu, Jia Jia, Barbara J. Sahakian, Trevor W. Robbins, Lirong Jin, Zheng Ye

Neuroimage Clin. 2022; 36: 103276. Published online 2022 Nov 28. doi: 10.1016/j.nicl.2022.103276

PMCID:: PMC9723406

Abstract Article PDF–2.3M

Select item 807330516.

The Effects of Bariatric Surgery on Vitamin B Status and Mental Health

Amna Al Mansoori, Hira Shakoor, Habiba I. Ali, Jack Feehan, Ayesha S. Al Dhaheri, Leila Cheikh Ismail, Marijan Bosevski, Vasso Apostolopoulos, Lily Stojanovska

Nutrients. 2021 Apr; 13(4): 1383. Published online 2021 Apr 20. doi: 10.3390/nu13041383