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Keywords: Dystonia
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Journal Articles

Mutation in Prkra results in cerebellar abnormality and reduced eIF2α phosphorylation in a model of DYT-PRKRA

Open Access
In collection:
Neuromuscular Disease , Rare Disease Translational Research
Samuel B. Burnett, Allison M. Culver, Tricia A. Simon, Taylor Rowson, Kenneth Frederick, Kristina Palmer, Stephen A. Murray, Shannon W. Davis, Rekha C. Patel
Journal: Disease Models & Mechanisms
Dis Model Mech (2024) 17 (11): dmm050929.
https://doi.org/10.1242/dmm.050929
Published: 26 November 2024
...Samuel B. Burnett; Allison M. Culver; Tricia A. Simon; Taylor Rowson; Kenneth Frederick; Kristina Palmer; Stephen A. Murray; Shannon W. Davis; Rekha C. Patel ABSTRACT Variants in the PRKRA gene , which encodes PACT, cause the early-onset primary dystonia DYT-PRKRA, a movement disorder associated...
View articletitled, Mutation in Prkra results in cerebellar abnormality and reduced eIF2α phosphorylation in a model of DYT-PRKRA
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Includes: Supplementary data
Journal Articles

Early-onset torsion dystonia: a novel high-throughput yeast genetic screen for factors modifying protein levels of torsinAΔE

Open Access
In collection:
Drug Discovery
Lucía F. Zacchi, John C. Dittmar, Michael J. Mihalevic, Annette M. Shewan, Benjamin L. Schulz, Jeffrey L. Brodsky, Kara A. Bernstein
Journal: Disease Models & Mechanisms
Dis Model Mech (2017) 10 (9): 1129–1140.
https://doi.org/10.1242/dmm.029926
Published: 1 September 2017
...Lucía F. Zacchi; John C. Dittmar; Michael J. Mihalevic; Annette M. Shewan; Benjamin L. Schulz; Jeffrey L. Brodsky; Kara A. Bernstein ABSTRACT Dystonia is the third most common movement disorder, but its diagnosis and treatment remain challenging. One of the most severe types of dystonia is early...
View articletitled, Early-onset torsion dystonia: a novel high-throughput yeast genetic screen for factors modifying protein levels of torsinAΔE
Open the PDF for Early-onset torsion dystonia: a novel high-throughput yeast genetic screen for factors modifying protein levels of torsinAΔE in another window
Includes: Supplementary data
Journal Articles

A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

Open Access
In collection:
Drosophila as a Disease Model
Celia Zazo Seco, Anna Castells-Nobau, Seol-hee Joo, Margit Schraders, Jia Nee Foo, Monique van der Voet, S. Sendhil Velan, Bonnie Nijhof, Jaap Oostrik, Erik de Vrieze, Radoslaw Katana, Atika Mansoor, Martijn Huynen, Radek Szklarczyk, Martin Oti, Lisbeth Tranebjærg, Erwin van Wijk, Jolanda M. Scheffer-de Gooyert, Saadat Siddique, Jonathan Baets, Peter de Jonghe, Syed Ali Raza Kazmi, Suresh Anand Sadananthan, Bart P. van de Warrenburg, Chiea Chuen Khor, Martin C. Göpfert, Raheel Qamar, Annette Schenck, Hannie Kremer, Saima Siddiqi
Journal: Disease Models & Mechanisms
Dis Model Mech (2017) 10 (2): 105–118.
https://doi.org/10.1242/dmm.026476
Published: 1 February 2017
... to have a novel deafness-dystonia syndrome with motor regression, ichthyosis-like features and signs of sensory neuropathy. By applying a combined strategy of linkage analysis and whole-exome sequencing in the presented family, a homozygous nonsense mutation, c.4G>T (p.Glu2*), in FITM2 was identified...
View articletitled, A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy
Open the PDF for A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy in another window
Includes: Supplementary data