Voltage-sensing mechanism is conserved among ion channels gated by opposite voltages R Männikkö, F Elinder, HP Larsson Nature 419 (6909), 837-841, 2002 | 263 | 2002 |
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ... Nature communications 10 (1), 3094, 2019 | 198 | 2019 |
Hysteresis in the voltage dependence of HCN channels: conversion between two modes affects pacemaker properties R Männikkö, S Pandey, HP Larsson, F Elinder The Journal of general physiology 125 (3), 305-326, 2005 | 163 | 2005 |
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or ‘classical’ congenital myopathy IT Zaharieva, MG Thor, EC Oates, C Van Karnebeek, G Hendson, E Blom, ... Brain 139 (3), 674-691, 2016 | 115 | 2016 |
Muscle dysfunction caused by a KATP channel mutation in neonatal diabetes is neuronal in origin RH Clark, JS McTaggart, R Webster, R Mannikko, M Iberl, XL Sim, ... Science 329 (5990), 458-461, 2010 | 98 | 2010 |
S4 charges move close to residues in the pore domain during activation in a K channel F Elinder, R Männikkö, HP Larsson The Journal of general physiology 118 (1), 1-10, 2001 | 95 | 2001 |
Dysfunction of NaV1. 4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study R Männikkö, L Wong, DJ Tester, MG Thor, R Sud, DM Kullmann, ... The Lancet 391 (10129), 1483-1492, 2018 | 93 | 2018 |
Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes T Babiker, N Vedovato, K Patel, N Thomas, R Finn, R Männikkö, ... Diabetologia 59, 1162-1166, 2016 | 82 | 2016 |
Molecular movement of the voltage sensor in a K channel A Broomand, R Männikkö, HP Larsson, F Elinder The Journal of general physiology 122 (6), 741-748, 2003 | 79 | 2003 |
Muscle channelopathies: recent advances in genetics, pathophysiology and therapy K Suetterlin, R Männikkö, MG Hanna Current opinion in neurology 27 (5), 583-590, 2014 | 74 | 2014 |
Mode shifts in the voltage gating of the mouse and human HCN2 and HCN4 channels F Elinder, R Männikkö, S Pandey, HP Larsson The Journal of physiology 575 (2), 417-431, 2006 | 73 | 2006 |
A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis K Habbout, H Poulin, F Rivier, S Giuliano, D Sternberg, B Fontaine, ... Neurology 86 (2), 161-169, 2016 | 68 | 2016 |
Pharmacological and electrophysiological characterization of nine, single nucleotide polymorphisms of the hERG‐encoded potassium channel R Männikkö, G Overend, C Perrey, CL Gavaghan, JP Valentin, J Morten, ... British journal of pharmacology 159 (1), 102-114, 2010 | 42 | 2010 |
Adjacent mutations in the gating loop of Kir6. 2 produce neonatal diabetes and hyperinsulinism K Shimomura, SE Flanagan, B Zadek, M Lethby, L Zubcevic, CAJ Girard, ... EMBO Molecular Medicine 1 (3), 166-177, 2009 | 40 | 2009 |
A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms M Sampedro Castañeda, E Zanoteli, RS Scalco, V Scaramuzzi, ... Brain 141 (12), 3308-3318, 2018 | 37 | 2018 |
Increasing selectivity of CC chemokine receptor 8 antagonists by engineering nondesolvation related interactions with the intended and off-target binding sites I Shamovsky, C de Graaf, L Alderin, M Bengtsson, H Bladh, L Börjesson, ... Journal of medicinal chemistry 52 (23), 7706-7723, 2009 | 37 | 2009 |
Spider toxin inhibits gating pore currents underlying periodic paralysis R Männikkö, ZO Shenkarev, MG Thor, AA Berkut, MY Myshkin, ... Proceedings of the National Academy of Sciences 115 (17), 4495-4500, 2018 | 33 | 2018 |
Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis S Corrochano, R Männikkö, PI Joyce, P McGoldrick, J Wettstein, G Lassi, ... Brain 137 (12), 3171-3185, 2014 | 31 | 2014 |
Mutations of the same conserved glutamate residue in NBD2 of the sulfonylurea receptor 1 subunit of the KATP channel can result in either hyperinsulinism or neonatal diabetes R Männikkö, SE Flanagan, X Sim, D Segal, K Hussain, S Ellard, ... Diabetes 60 (6), 1813-1822, 2011 | 30 | 2011 |
Myasthenic congenital myopathy from recessive mutations at a single residue in NaV1.4 N Elia, J Palmio, MS Castañeda, PB Shieh, M Quinonez, T Suominen, ... Neurology 92 (13), e1405-e1415, 2019 | 29 | 2019 |