L J Ptácek

Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1.

Kevin M. Flanigan, Kathy Gardner, Kathy Alderson et al. · PubMed · 1996 · 248 citations

An expanded CAG repeat sequence in spinocerebellar ataxia type 7.

K Lindblad, M L Savontaus, Giovanni Stévanin et al. · Genome Research · 1996 · 106 citations · Full text

Trochlear nerve palsy following minor head trauma. A sign of structural disorder.

Daniel M. Jacobson, Jon J.P. Warner, A K Choucair et al. · PubMed · 1988 · 15 citations

Old Head Tilt, Neurotology, Trochlear Nerve Palsy +17

Channelopathies: ion channel disorders of muscle as a paradigm for paroxysmal disorders of the nervous system.

L J Ptácek · PubMed · 1999 · 12 citations

Mutations in the Novel Protein PRRT2 Cause Infantile Convulsions with Paroxysmal Kinesigenic Dyskinesia

Hae‐Young Lee, Ying‐Zu Huang, Nadine Bruneau et al. · UCL Discovery (University College London) · 2012 · 10 citations

Molecular Neuroscience, Genetics, Paroxysmal Kinesigenic Dyskinesia +5