DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA

Recent Developments in Parkinson's Disease

Howard I. Hurtig · Neurology · 1987 · 1.9K citations

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Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase

Alfredo Ramı́rez, André Heimbach, Jan Gründemann et al. · Nature Genetics · 2006 · 1.2K citations

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Validity and reliability of a rating scale for the primary torsion dystonias

Robert E. Burke, Stanley Fahn, C. D. Marsden et al. · Neurology · 1985 · 1.1K citations

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The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein

Laurie J. Ozelius, Jeffrey Hewett, Curtis E. Page et al. · Nature Genetics · 1997 · 1K citations

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Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene

Hiroshi Ichinose, Tamae Ohye, Ei-ichi Takahashi et al. · Nature Genetics · 1994 · 775 citations

Life Sciences, Genetics, Neurology +12