S. H. Subramony

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel

Olga Zhuchenko, Jennifer M. Bailey, Penelope E. Bonnen et al. · Nature Genetics · 1997 · 1.6K citations

Small Polyglutamine Expansions, Neurobiology Of Disease, Molecular Neuroscience +14

International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome

P Trouillas, T Takayanagi, Mark Hallett et al. · Journal of the Neurological Sciences · 1997 · 1.3K citations

Neurobiology Of Disease, Neurological Disorder, Clinical Neurology +9

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 · 991 citations · Full text

Episodic Electrical Phenotypes, Developmental Biology, Genetic Disorder +7

Intranuclear Inclusions of Expanded Polyglutamine Protein in Spinocerebellar Ataxia Type 3

Henry L. Paulson, Matthew K. Perez, Yvon Trottier et al. · Neuron · 1997 · 839 citations · Full text

Measuring Friedreich ataxia: Interrater reliability of a neurologic rating scale

S. H. Subramony, William May, David R. Lynch et al. · Neurology · 2005 · 379 citations

Reliability, Inherited Ataxias, Neuroimaging Biomarkers +13