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Cerebral Cortex (New York, N.Y. : 1991)|November 9, 2017
Polygenic Risk of Spasmodic Dysphonia is Associated With Vulnerable Sensorimotor ConnectivityGregory Garbès Putzel, Giovanni Battistella, Anna F Rumbach, et al.
Neurology. Genetics|March 8, 2019
Genotype-structure-phenotype relationships diverge in paralogs ATP1A1, ATP1A2, and ATP1A3Kathleen J Sweadner, Elena Arystarkhova, John T Penniston, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 16, 2004
Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate geneChristoph Kamm, Joanne Leung, Soni Joseph, et al.
The Lancet. Neurology|April 7, 2009
Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening studyAna Djarmati, Susanne A Schneider, Katja Lohmann, et al.
Nature Genetics|December 11, 2012
Mutations in GNAL cause primary torsion dystoniaTania Fuchs, Rachel Saunders-Pullman, Ikuo Masuho, et al.
Clinical Neurology and Neurosurgery|December 17, 2008
Myoclonus and tremor response to thalamic deep brain stimulation parameters in a patient with inherited myoclonus-dystonia syndromeAlexis M Kuncel, Dennis A Turner, Laurie J Ozelius, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|October 27, 2006
Obsessive-compulsive disorder is not a clinical manifestation of the DYT1 dystonia geneGary A Heiman, Ruth Ottman, Rachel J Saunders-Pullman, et al.
Neuroscience Letters|March 26, 2002
The striatal dopaminergic deficit is dependent on the number of mutant alleles in a family with mutations in the parkin gene: evidence for enzymatic parkin function in humansRüdiger Hilker, Christine Klein, Katja Hedrich, et al.
Movement Disorders Clinical Practice|April 23, 2025
The Vodka Trial: Clinical and Genetic Characteristics of Alcohol Responsiveness in Laryngeal DystoniaLena C O'Flynn, Aloysius Domingo, Azadeh Hamzehei Sichani, et al.
Parkinsonism & Related Disorders|December 28, 2024
Neurological and psychiatric characterization of rapid-onset dystonia-parkinsonism over timeIhtsham U Haq, Eleonora Napoli, Beverly M Snively, et al.
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