Louis Ptacek
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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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Correlating phenotype and genotype in the periodic paralyses
TM Miller, MR Dias da Silva, HA Miller, H Kwiecinski, JR Mendell, R Tawil, ...
Neurology 63 (9), 1647-1655, 2004
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