A de novo gain-of-function mutation in SCN11A causes loss of pain perception E Leipold, L Liebmann, GC Korenke, T Heinrich, S Gießelmann, J Baets, ... Nature genetics 45 (11), 1399-1404, 2013 | 321 | 2013 |
Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy I Kurth, T Pamminger, JC Hennings, D Soehendra, AK Huebner, ... Nature genetics 41 (11), 1179-1181, 2009 | 246 | 2009 |
NKX6 transcription factor activity is required for α-andβ-cell development in the pancreas KD Henseleit, SB Nelson, K Kuhlbrodt, JC Hennings, J Ericson, M Sander Oxford University Press for The Company of Biologists Limited 132 (13), 3139 …, 2005 | 232 | 2005 |
In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11 RE Varga, M Khundadze, M Damme, S Nietzsche, B Hoffmann, T Stauber, ... PLoS genetics 11 (8), e1005454, 2015 | 133 | 2015 |
Overexpression of pendrin in intercalated cells produces chloride-sensitive hypertension T Jacques, N Picard, RL Miller, KA Riemondy, P Houillier, F Sohet, ... Journal of the American Society of Nephrology 24 (7), 1104-1113, 2013 | 107 | 2013 |
The ClC-K2 chloride channel is critical for salt handling in the distal nephron JC Hennings, O Andrini, N Picard, M Paulais, AK Huebner, IKL Cayuqueo, ... Journal of the American Society of Nephrology 28 (1), 209-217, 2017 | 106 | 2017 |
A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal system M Khundadze, K Kollmann, N Koch, C Biskup, S Nietzsche, G Zimmer, ... PLoS genetics 9 (12), e1003988, 2013 | 101 | 2013 |
Neuronal carbonic anhydrase VII provides GABAergic excitatory drive to exacerbate febrile seizures E Ruusuvuori, AK Huebner, I Kirilkin, AY Yukin, P Blaesse, M Helmy, ... The EMBO journal 32 (16), 2275-2286, 2013 | 91 | 2013 |
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction K Koehler, M Malik, S Mahmood, S Gießelmann, C Beetz, JC Hennings, ... The American Journal of Human Genetics 93 (4), 727-734, 2013 | 81 | 2013 |
Carbonic anhydrases CA4 and CA14 both enhance AE3-mediated Cl−–HCO3− exchange in hippocampal neurons N Svichar, A Waheed, WS Sly, JC Hennings, CA Hübner, M Chesler Journal of Neuroscience 29 (10), 3252-3258, 2009 | 81 | 2009 |
A mouse model for distal renal tubular acidosis reveals a previously unrecognized role of the V‐ATPase a4 subunit in the proximal tubule JC Hennings, N Picard, AK Huebner, T Stauber, H Maier, D Brown, ... EMBO molecular medicine 4 (10), 1057-1071, 2012 | 72 | 2012 |
Intercalated cell depletion and vacuolar H+-ATPase mistargeting in an Ae1 R607H Knockin model R Mumtaz, F Trepiccione, JC Hennings, AK Huebner, B Serbin, N Picard, ... Journal of the American Society of Nephrology 28 (5), 1507-1520, 2017 | 43 | 2017 |
Bi-allelic HPDL variants cause a neurodegenerative disease ranging from neonatal encephalopathy to adolescent-onset spastic paraplegia RA Husain, M Grimmel, M Wagner, JC Hennings, C Marx, RG Feichtinger, ... The American Journal of Human Genetics 107 (2), 364-373, 2020 | 37 | 2020 |
Towards Raman spectroscopy of urine as screening tool O Žukovskaja, O Ryabchykov, M Straßburger, T Heinekamp, AA Brakhage, ... Journal of Biophotonics 13 (1), e201900143, 2020 | 19 | 2020 |
Molecular and functional characterization of Kv4. 2 and KChIP2 expressed in the porcine left ventricle JH Schultz, T Volk, P Bassalaý, JC Hennings, CA Hübner, H Ehmke Pflügers Archiv-European Journal of Physiology 454, 195-207, 2007 | 19 | 2007 |
GMPPA defects cause a neuromuscular disorder with α-dystroglycan hyperglycosylation P Franzka, H Henze, MJ Jung, SC Schüler, S Mittag, K Biskup, ... The Journal of clinical investigation 131 (9), 2021 | 18 | 2021 |
The Na+/H+ Exchanger Nhe1 Modulates Network Excitability via GABA Release HT Bocker, T Heinrich, L Liebmann, JC Hennings, E Seemann, M Gerth, ... Cerebral Cortex 29 (10), 4263-4276, 2019 | 13 | 2019 |
The murine Cl-/HCO3-exchanger Ae3 (Slc4a3) is not required for acid-base balance but is involved in magnesium handling by the kidney NB Kampik, N Gehring, U Schnitzbauer, JC Hennings, CA Hübner, ... Cellular Physiology and Biochemistry 34 (5), 1566-1577, 2014 | 11 | 2014 |
Mechanisms of hypotonic inhibition of the sodium, proton exchanger type 1 (NHE1) in a biliary epithelial cell line (Mz‐Cha‐1) C Elsing, I Gosch, JC Hennings, CA Hübner, T Herrmann Acta physiologica 190 (3), 199-208, 2007 | 11 | 2007 |
Disorders of renal NaCl transport and implications for blood pressure regulation JC Hennings, CA Hübner medizinische genetik 31 (1), 1-7, 2019 | 2 | 2019 |