| Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis Nature 476 (7359), 214-219, 2011 | 2947 | 2011 |
| Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis International IBD Genetics Consortium (IIBDGC), C Agliardi, L Alfredsson, ... Nature genetics 45 (11), 1353-1360, 2013 | 1327 | 2013 |
| Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease G Casari, M De Fusco, S Ciarmatori, M Zeviani, M Mora, P Fernandez, ... Cell 93 (6), 973-983, 1998 | 968 | 1998 |
| Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility International Multiple Sclerosis Genetics Consortium*†, ANZgene, ... Science 365 (6460), eaav7188, 2019 | 851 | 2019 |
| Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia J Hazan, N Fonknechten, D Mavel, C Paternotte, D Samson, ... Nature genetics 23 (3), 296-303, 1999 | 758 | 1999 |
| Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60 JJ Hansen, A Dürr, I Cournu-Rebeix, C Georgopoulos, D Ang, ... The American Journal of Human Genetics 70 (5), 1328-1332, 2002 | 460 | 2002 |
| De novo mutations in ATP1A3 cause alternating hemiplegia of childhood EL Heinzen, KJ Swoboda, Y Hitomi, F Gurrieri, S Nicole, B de Vries, ... Nature genetics 44 (9), 1030-1034, 2012 | 402 | 2012 |
| Class II HLA interactions modulate genetic risk for multiple sclerosis Nature genetics 47 (10), 1107-1113, 2015 | 394 | 2015 |
| A calcium channel mutation causing hypokalemic periodic paralysis K Jurkat-Rott, F Lehmann-Horn, A Elbaz, R Heine, RG Gregg, K Hogan, ... Human Molecular Genetics 3 (8), 1415-1419, 1994 | 393 | 1994 |
| The primary periodic paralyses: diagnosis, pathogenesis and treatment SL Venance, SC Cannon, D Fialho, B Fontaine, MG Hanna, LJ Ptacek, ... Brain 129 (1), 8-17, 2006 | 392 | 2006 |
| Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum G Stevanin, FM Santorelli, H Azzedine, P Coutinho, J Chomilier, ... Nature genetics 39 (3), 366-372, 2007 | 379 | 2007 |
| Hyperkalemic periodic paralysis and the adult muscle sodium channel α-subunit gene B Fontaine, TS Khurana, EP Hoffman, GAP Bruns, JL Haines, JA Trofatter, ... Science 250 (4983), 1000-1002, 1990 | 364 | 1990 |
| Calcitonin gene-related peptide, a peptide present in spinal cord motoneurons, increases the number of acetylcholine receptors in primary cultures of chick embryo myotubes B Fontaine, A Klarsfeld, T Hökfelt, JP Changeux Neuroscience letters 71 (1), 59-65, 1986 | 361 | 1986 |
| Mutations in potassium channel Kir2. 6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis DP Ryan, MRD da Silva, TW Soong, B Fontaine, MR Donaldson, ... Cell 140 (1), 88-98, 2010 | 357 | 2010 |
| Electromyography guides toward subgroups of mutations in muscle channelopathies E Fournier, M Arzel, D Sternberg, S Vicart, P Laforet, B Eymard, JC Willer, ... Annals of Neurology: Official Journal of the American Neurological …, 2004 | 351 | 2004 |
| Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia) S Nicole, CS Davoine, H Topaloglu, L Cattolico, D Barral, P Beighton, ... Nature genetics 26 (4), 480-483, 2000 | 341 | 2000 |
| Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia N Fonknechten, D Mavel, P Byrne, CS Davoine, C Cruaud, D Boentsch, ... Human molecular genetics 9 (4), 637-644, 2000 | 335 | 2000 |
| Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current K Jurkat-Rott, N Mitrovic, C Hang, A Kouzmenkine, P Iaizzo, J Herzog, ... Proceedings of the National Academy of Sciences 97 (17), 9549-9554, 2000 | 328 | 2000 |
| Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31–32 in three European families B Fontaine, J Vale-Santos, K Jurkat-Rott, J Reboul, E Plassart, CS Rime, ... Nature genetics 6 (3), 267-272, 1994 | 317 | 1994 |
| Calcitonin gene-related peptide and muscle activity regulate acetylcholine receptor alpha-subunit mRNA levels by distinct intracellular pathways. B Fontaine, A Klarsfeld, JP Changeux The Journal of cell biology 105 (3), 1337-1342, 1987 | 285 | 1987 |
