High Frequency of Pathogenic Variants in Neurodevelopmental Genes in Patients with Dystonia
Objective: To systematically investigate the occurrence of pathogenic variants in genes linked to neurodevelopmental disorders (NDD) in patients with dystonia. Background: Partially overlapping genetic causes…Uncovering novel genomic alterations in dystonia using gene burden analysis
Objective: To identify genomic alterations that are over-represented in the Indian dystonia cohort using gene burden analysis of rare variants. Background: Dystonia is a complex…Genetic Predictors in Dystonia: A Phenotypic Analysis.
Objective: To identify clinical predictors of genetic positivity in dystonia and to develop a phenotype-based predictive score to guide genetic testing. Background: Dystonia is a…Effects of Psychiatric Symptoms on Dystonia Risk: a Prospective Cohort and Mendelian Randomization Study
Objective: To investigate the association between psychiatric symptoms and the risk of dystonia, and to explore potential causal effects using Mendelian randomization (MR). Background: Psychiatric…A Novel VAC14 Variant Associated With Levodopa-responsive Generalized Dystonia
Objective: To report a novel VAC14 variant linked to levodopa-responsive dystonia. Background: VAC14 is essential for membrane trafficking, endosomal maturation and autophagy. Bi-allelic pathogenic variants…Modifiers of Intergenerational Repeat Changes in X-linked Dystonia–Parkinsonism
Objective: To investigate the effect of genetic modifiers of X-linked dystonia-parkinsonism (XDP) on the relevant repeat across generations. Background: XDP is a rare neurodegenerative disorder…Kufor-Rakeb Syndrome With a Novel Splice-Site Variant in the ATP13A2 Gene
Objective: To report a patient with juvenile-onset parkinsonism harboring a novel homozygous splice-site variant in ATP13A2. Background: Kufor-Rakeb syndrome (KRS) is an ultra-rare form of…A Rare Case of PLA2G6 Gene Related Early-Onset Dystonia-Parkinsonism; What Not to Miss Clinically and Radiologically
Objective: PLA2G6-associated neurodegeneration (PLAN) is a rare form of neurodegeneration with brain iron accumulation (NBIA) leading to heterogeneous clinical manifestation including infantile neuroaxonal dystrophy, atypical…Globus Pallidus Internus Deep Brain Stimulation for Dystonia in COX20-Related Mitochondrial Complex IV Deficiency (MC4DN11): First Reported Case
Objective: To describe the clinical response to bilateral GPi-DBS in a patient with MC4DN11-associated dystonia. Background: Mitochondrial Complex IV Deficiency, Nuclear Type 11 (MC4DN11), caused…ANK2 Mutations Associated with a Myoclonus-Dystonia Phenotype: Expanding the Neurological Spectrum of Ankyrin-B Dysfunction
Objective: To deeply characterize the clinical and genetic spectrum of ANK2-related hyperkinetic movement disorders and expand their recognized link to myoclonus-dystonia phenotype. Background: The ANK2…
- « Previous Page
- 1
- 2
- 3
- 4
- …
- 32
- Next Page »