Louis J. Ptáček

An h <i>Per2</i> Phosphorylation Site Mutation in Familial Advanced Sleep Phase Syndrome

Kong Leong Toh, Christopher R. Jones, Yan He et al. · Science · 2001 · 1.5K citations

Life Sciences, Genetics, Molecular Genetics +17

Mutations in Kir2.1 Cause the Developmental and Episodic Electrical Phenotypes of Andersen's Syndrome

Nikki Plaster, Rabi Tawil, Martin Tristani‐Firouzi et al. · Cell · 2001 · 998 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Functional consequences of a CKIδ mutation causing familial advanced sleep phase syndrome

Ying Xu, Quasar Saleem Padiath, Robert E. Shapiro et al. · Nature · 2005 · 862 citations

Life Sciences, Genetics, Molecular Genetics +10

Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)

Martin Tristani‐Firouzi, Judy L. Jensen, Matthew R. Donaldson et al. · Journal of Clinical Investigation · 2002 · 539 citations · Full text

Medicine, Cardiology, Genetics +17

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

Erin L. Heinzen, Kathryn J. Swoboda, Yuki Hitomi et al. · Nature Genetics · 2012 · 423 citations · Full text

Life Sciences, Genetics, Neurology +9