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Detlef Bockenhauer
Detlef Bockenhauer
UCL Department of Renal Medicine and Great Ormond Street Hospital
Verified email at ucl.ac.uk
Title
Cited by
Cited by
Year
Potassium leak channels and the KCNK family of two-P-domain subunits
SAN Goldstein, D Bockenhauer, I O'Kelly, N Zilberberg
Nature Reviews Neuroscience 2 (3), 175-184, 2001
8172001
Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities
LM Boyden, M Choi, KA Choate, CJ Nelson-Williams, A Farhi, HR Toka, ...
Nature 482 (7383), 98-102, 2012
6502012
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome
CE Sadowski, S Lovric, S Ashraf, WL Pabst, HY Gee, S Kohl, ...
Journal of the American society of nephrology 26 (6), 1279-1289, 2015
6272015
Risk HLA-DQA1 and PLA2R1 Alleles in Idiopathic Membranous Nephropathy
HC Stanescu, M Arcos-Burgos, A Medlar, D Bockenhauer, A Kottgen, ...
New England Journal of Medicine 364 (7), 616-626, 2011
6092011
Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations
D Bockenhauer, S Feather, HC Stanescu, S Bandulik, AA Zdebik, ...
New England Journal of Medicine 360 (19), 1960-1970, 2009
5952009
Nomenclature for kidney function and disease: report of a Kidney Disease: Improving Global Outcomes (KDIGO) Consensus Conference
AS Levey, KU Eckardt, NM Dorman, SL Christiansen, EJ Hoorn, ...
Kidney international 97 (6), 1117-1129, 2020
5792020
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia
D Haffner, F Emma, DM Eastwood, MB Duplan, J Bacchetta, D Schnabel, ...
Nature Reviews Nephrology 15 (7), 435-455, 2019
4122019
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption
S Ashraf, HY Gee, S Woerner, LX Xie, V Vega-Warner, S Lovric, H Fang, ...
The Journal of clinical investigation 123 (12), 5179-5189, 2013
3682013
Gitelman syndrome: consensus and guidance from a kidney disease: improving global outcomes (KDIGO) controversies conference
A Blanchard, D Bockenhauer, D Bolignano, LA Calo, E Cosyns, ...
Kidney international 91 (1), 24-33, 2017
3322017
Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder
R Kleta, E Romeo, Z Ristic, T Ohura, C Stuart, M Arcos-Burgos, MH Dave, ...
Nature genetics 36 (9), 999-1002, 2004
3242004
Pathophysiology, diagnosis and management of nephrogenic diabetes insipidus
D Bockenhauer, DG Bichet
Nature Reviews Nephrology 11 (10), 576-588, 2015
2912015
Integrin α3 mutations with kidney, lung, and skin disease
C Has, G Spartà, D Kiritsi, L Weibel, A Moeller, V Vega-Warner, A Waters, ...
New England Journal of Medicine 366 (16), 1508-1514, 2012
2772012
HNF1B mutations associate with hypomagnesemia and renal magnesium wasting
S Adalat, AS Woolf, KA Johnstone, A Wirsing, LW Harries, DA Long, ...
Journal of the American Society of Nephrology 20 (5), 1123-1131, 2009
2692009
Whole exome sequencing of patients with steroid-resistant nephrotic syndrome
JK Warejko, W Tan, A Daga, D Schapiro, JA Lawson, S Shril, S Lovric, ...
Clinical Journal of the American Society of Nephrology 13 (1), 53-62, 2018
2192018
KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function
M Reichold, AA Zdebik, E Lieberer, M Rapedius, K Schmidt, S Bandulik, ...
Proceedings of the National Academy of Sciences 107 (32), 14490-14495, 2010
2192010
Mutations in the human laminin β2 (LAMB2) gene and the associated phenotypic spectruma
V Matejas, B Hinkes, F Alkandari, L Al‐Gazali, E Annexstad, MB Aytac, ...
Human mutation 31 (9), 992-1002, 2010
2162010
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3
S Hoff, J Halbritter, D Epting, V Frank, TMT Nguyen, J Van Reeuwijk, ...
Nature genetics 45 (8), 951-956, 2013
2092013
KCNK2: reversible conversion of a hippocampal potassium leak into a voltage-dependent channel
D Bockenhauer, N Zilberberg, SAN Goldstein
Nature neuroscience 4 (5), 486-491, 2001
1962001
Genetic causes of hypomagnesemia, a clinical overview
DHHM Viering, JHF de Baaij, SB Walsh, R Kleta, D Bockenhauer
Pediatric nephrology 32, 1123-1135, 2017
1832017
Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference
LM Guay-Woodford, JJ Bissler, MC Braun, D Bockenhauer, ...
The Journal of pediatrics 165 (3), 611-617, 2014
1742014
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