| An hPer2 Phosphorylation Site Mutation in Familial Advanced Sleep Phase Syndrome KL Toh, CR Jones, Y He, EJ Eide, WA Hinz, DM Virshup, LJ Ptácek, ... Science 291 (5506), 1040-1043, 2001 | 1823 | 2001 |
| Mutations in Kir2. 1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome NM Plaster, R Tawil, M Tristani-Firouzi, S Canún, S Bendahhou, ... Cell 105 (4), 511-519, 2001 | 1177 | 2001 |
| Functional consequences of a CKIδ mutation causing familial advanced sleep phase syndrome Y Xu, QS Padiath, RE Shapiro, CR Jones, SC Wu, N Saigoh, K Saigoh, ... Nature 434 (7033), 640-644, 2005 | 985 | 2005 |
| Familial advanced sleep-phase syndrome: A short-period circadian rhythm variant in humans. PLJ Jones CR, Campbell SS, Zone SE, Cooper F, DeSano A, Murphy PJ, Jones B ... Nature Medicine 5 (9), 1062-5, 1999 | 670 | 1999 |
| Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome) M Tristani-Firouzi, JL Jensen, MR Donaldson, V Sansone, G Meola, ... The Journal of clinical investigation 110 (3), 381-388, 2002 | 668 | 2002 |
| Dihydropyridine receptor mutations cause hypokalemic periodic paralysis LJ Ptáček, R Tawil, RC Griggs, AG Engel, RB Layzer, H Kwieciński, ... Cell 77 (6), 863-868, 1994 | 530 | 1994 |
| Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria MK Bruno, M Hallett, K Gwinn-Hardy, B Sorensen, E Considine, S Tucker, ... Neurology 63 (12), 2280-2287, 2004 | 470 | 2004 |
| Lamin B1 duplications cause autosomal dominant leukodystrophy QS Padiath, K Saigoh, R Schiffmann, H Asahara, T Yamada, A Koeppen, ... Nature genetics 38 (10), 1114-1123, 2006 | 469 | 2006 |
| Identification of a mutation in the gene causing hyperkalemic periodic paralysis LJ Ptáček, AL George Jr, RC Griggs, R Tawil, RG Kallen, RL Barchi, ... Cell 67 (5), 1021-1027, 1991 | 469 | 1991 |
| Modeling of a human circadian mutation yields insights into clock regulation by PER2 Y Xu, KL Toh, CR Jones, JY Shin, YH Fu, LJ Ptáček Cell 128 (1), 59-70, 2007 | 441 | 2007 |
| Andersen's syndrome: potassium‐sensitive periodic paralysis, ventricular ectopy, and dysmorphic features R Tawil, LJ Ptacek, SG Pavlakis, DC DeVivo, AS Penn, C Özdemir, ... Annals of Neurology: Official Journal of the American Neurological …, 1994 | 426 | 1994 |
| MiRP2 forms potassium channels in skeletal muscle with Kv3. 4 and is associated with periodic paralysis GW Abbott, MH Butler, S Bendahhou, MC Dalakas, LJ Ptacek, ... Cell 104 (2), 217-231, 2001 | 403 | 2001 |
| 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 |
| Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15–13 and 3q25. 2–27 HD Craig, M Günel, O Cepeda, EW Johnson, L Ptacek, GK Steinberg, ... Human molecular genetics 7 (12), 1851-1858, 1998 | 392 | 1998 |
| 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 | 389 | 2006 |
| Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations CL Liquori, MJ Berg, AM Siegel, E Huang, JS Zawistowski, D Verlaan, ... The American Journal of Human Genetics 73 (6), 1459-1464, 2003 | 367 | 2003 |
| 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 | 354 | 2010 |
| Electrocardiographic Features in Andersen-Tawil Syndrome Patients With KCNJ2 Mutations: Characteristic T-U–Wave Patterns Predict the KCNJ2 Genotype L Zhang, DW Benson, M Tristani-Firouzi, LJ Ptacek, R Tawil, PJ Schwartz, ... Circulation 111 (21), 2720-2726, 2005 | 340 | 2005 |
| Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions HY Lee, Y Huang, N Bruneau, P Roll, EDO Roberson, M Hermann, ... Cell reports 1 (1), 2-12, 2012 | 295 | 2012 |
| Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita LJ Ptáček, AL George Jr, RL Barchi, RC Griggs, JE Riggs, M Robertson, ... Neuron 8 (5), 891-897, 1992 | 290 | 1992 |
