Detlef Bockenhauer
Detlef Bockenhauer
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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
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
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
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
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
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
Mutations in SLC6A19, encoding B 0 AT1, 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
Integrin α3 mutations with kidney, lung, and skin disease
C Has, G Spartā, D Kiritsi, L Weibel, A Moeller, V Vega-Warner, A Waters, ...
New England Journal of Medicine 366 (16), 1508-1514, 2012
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
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
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
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
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
Pathophysiology, diagnosis and management of nephrogenic diabetes insipidus
D Bockenhauer, DG Bichet
Nature Reviews Nephrology 11 (10), 576, 2015
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
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy
EA Otto, G Ramaswami, S Janssen, M Chaki, SJ Allen, W Zhou, R Airik, ...
Journal of medical genetics 48 (2), 105-116, 2011
Renal phenotype in Lowe syndrome: a selective proximal tubular dysfunction
D Bockenhauer, A Bokenkamp, W van't Hoff, E Levtchenko, ...
Clinical journal of the american society of nephrology 3 (5), 1430-1436, 2008
Bartter syndromes and other salt-losing tubulopathies
R Kleta, D Bockenhauer
Nephron Physiology 104 (2), p73-p80, 2006
Dent-2 disease: a mild variant of Lowe syndrome
A Bökenkamp, D Böckenhauer, HI Cheong, B Hoppe, V Tasic, R Unwin, ...
The Journal of pediatrics 155 (1), 94-99, 2009
Phospholipase A2 receptor (PLA2R1) sequence variants in idiopathic membranous nephropathy
MJH Coenen, JM Hofstra, H Debiec, HC Stanescu, AJ Medlar, B Stengel, ...
Journal of the American Society of Nephrology 24 (4), 677-683, 2013
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