Genetics and pathogenesis of dystonia
Dystonia is a clinically and genetically highly heterogeneous neurological disorder
characterized by abnormal movements and postures caused by involuntary sustained or …
characterized by abnormal movements and postures caused by involuntary sustained or …
Differential response to pallidal deep brain stimulation among monogenic dystonias: systematic review and meta-analysis
Objective Genetic subtypes of dystonia may respond differentially to deep brain stimulation
of the globus pallidus pars interna (GPi DBS). We sought to compare GPi DBS outcomes …
of the globus pallidus pars interna (GPi DBS). We sought to compare GPi DBS outcomes …
Five EMT‐related genes signature predicts overall survival and immune environment in microsatellite instability‐high gastric cancer
Background Microsatellite instability‐high (MSI‐H) subgroup of gastric cancer (GC) is
characterized by a high tumor mutational burden, increased lymphocytic infiltration, and …
characterized by a high tumor mutational burden, increased lymphocytic infiltration, and …
Myoclonus: Differential diagnosis and current management
Myoclonus classically presents as a brief (10–50 ms duration), non‐rhythmic jerk movement.
The etiology could vary considerably ranging from self‐limited to chronic or even …
The etiology could vary considerably ranging from self‐limited to chronic or even …
Challenges in clinicogenetic correlations: one phenotype–many genes
R Gannamani, S van der Veen… - Movement Disorders …, 2021 - Wiley Online Library
Background In the field of movement disorders, what you see (phenotype) is seldom what
you get (genotype). Whereas 1 phenotype was previously associated to 1 gene, the advent …
you get (genotype). Whereas 1 phenotype was previously associated to 1 gene, the advent …
[HTML][HTML] Synaptic dysfunction in dystonia: update from experimental models
Dystonia, the third most common movement disorder, refers to a heterogeneous group of
neurological diseases characterized by involuntary, sustained or intermittent muscle …
neurological diseases characterized by involuntary, sustained or intermittent muscle …
Psychiatric phenotype in neurodevelopmental myoclonus-dystonia is underpinned by abnormality of cerebellar modulation on the cerebral cortex
C Tarrano, C Galléa, C Delorme, EM McGovern… - Scientific Reports, 2024 - nature.com
Psychiatric symptoms are common in neurodevelopmental movement disorders, including
some types of dystonia. However, research has mainly focused on motor manifestations and …
some types of dystonia. However, research has mainly focused on motor manifestations and …
Functional and molecular properties of DYT-SGCE myoclonus-dystonia patient-derived striatal medium spiny neurons
A Kutschenko, S Staege, K Grütz, H Glaß… - International journal of …, 2021 - mdpi.com
Myoclonus-dystonia (DYT-SGCE, formerly DYT11) is characterized by alcohol-sensitive,
myoclonic-like appearance of fast dystonic movements. It is caused by mutations in the …
myoclonic-like appearance of fast dystonic movements. It is caused by mutations in the …
Medical management of myoclonus-dystonia and implications for underlying pathophysiology
Myoclonus-dystonia is an early onset genetic disorder characterised by subcortical
myoclonus and less prominent dystonia. Its primary causative gene is the epsilon …
myoclonus and less prominent dystonia. Its primary causative gene is the epsilon …
ε-Sarcoglycan: unraveling the myoclonus-dystonia gene
A Cazurro-Gutiérrez, A Marcé-Grau… - Molecular …, 2021 - Springer
Myoclonus-dystonia (MD) is a rare childhood-onset movement disorder, with an estimated
prevalence of about 2 per 1,000,. 000 in Europe, characterized by myoclonic jerks in …
prevalence of about 2 per 1,000,. 000 in Europe, characterized by myoclonic jerks in …