Primary dystonia and dystonia-plus syndromes: clinical characteristics, diagnosis, and pathogenesis
The dystonias are a heterogeneous group of hyperkinetic movement disorders
characterised by involuntary sustained muscle contractions that lead to abnormal postures …
characterised by involuntary sustained muscle contractions that lead to abnormal postures …
Engineering animal models of dystonia
Dystonia is a neurological disorder characterized by abnormal involuntary movements that
are prolonged and often cause twisting and turning. Several genetically modified worms …
are prolonged and often cause twisting and turning. Several genetically modified worms …
Altered Dendritic Morphology of Purkinje cells in Dyt1 ΔGAG Knock-In and Purkinje Cell-Specific Dyt1 Conditional Knockout Mice
Background DYT1 early-onset generalized dystonia is a neurological movement disorder
characterized by involuntary muscle contractions. It is caused by a trinucleotide deletion of a …
characterized by involuntary muscle contractions. It is caused by a trinucleotide deletion of a …
Characterization of Atp1a3 mutant mice as a model of rapid-onset dystonia with parkinsonism
MP DeAndrade, F Yokoi, T van Groen… - Behavioural brain …, 2011 - Elsevier
Rapid-onset dystonia with parkinsonism (RDP) or DYT12 dystonia is a rare form of primary,
generalized dystonia. Patients do not present with any symptoms until triggered by a …
generalized dystonia. Patients do not present with any symptoms until triggered by a …
[HTML][HTML] Decreased number of striatal cholinergic interneurons and motor deficits in dopamine receptor 2-expressing-cell-specific Dyt1 conditional knockout mice
DYT1 early-onset generalized torsion dystonia is a hereditary movement disorder
characterized by abnormal postures and repeated movements. It is caused mainly by a …
characterized by abnormal postures and repeated movements. It is caused mainly by a …
Motor Deficits and Decreased Striatal Dopamine Receptor 2 Binding Activity in the Striatum-Specific Dyt1 Conditional Knockout Mice
DYT1 early-onset generalized dystonia is a hyperkinetic movement disorder caused by
mutations in DYT1 (TOR1A), which codes for torsinA. Recently, significant progress has …
mutations in DYT1 (TOR1A), which codes for torsinA. Recently, significant progress has …
Hyperactivity of Purkinje cell and motor deficits in C9orf72 knockout mice
A hexanucleotide (GGGGCC) repeat expansion in the first intron of the C9ORF72 gene is
the most frequently reported genetic cause of amyotrophic lateral sclerosis (ALS) and …
the most frequently reported genetic cause of amyotrophic lateral sclerosis (ALS) and …
The abnormal firing of Purkinje cells in the knockin mouse model of DYT1 dystonia
DYT1 dystonia is an inherited movement disorder caused by a heterozygous trinucleotide
(GAG) deletion in DYT1/TOR1A, coding for torsinA. Growing evidence suggests that the …
(GAG) deletion in DYT1/TOR1A, coding for torsinA. Growing evidence suggests that the …
Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome
J Xiao, SR Vemula, Y Xue, MM Khan, FA Carlisle… - Neurobiology of …, 2017 - Elsevier
Loss-of-function mutations in SGCE, which encodes ε-sarcoglycan (ε-SG), cause myoclonus-
dystonia syndrome (OMIM159900, DYT11). A “major” ε-SG protein derived from CCDS5637 …
dystonia syndrome (OMIM159900, DYT11). A “major” ε-SG protein derived from CCDS5637 …
Alteration of striatal dopaminergic neurotransmission in a mouse model of DYT11 myoclonus-dystonia
Background DYT11 myoclonus-dystonia (MD) syndrome is a neurological movement
disorder characterized by myoclonic jerks and dystonic postures or movement that can be …
disorder characterized by myoclonic jerks and dystonic postures or movement that can be …