Results 271 to 280 of about 81,579 (355)

Interplay Between Sex and Cytosine‐Adenine‐Guanine‐Age Product Score in Huntington's Disease: Clinical and Neuroimaging Perspectives

open access: yesMovement Disorders, EarlyView.
Abstract Background Huntington's disease (HD) is a progressive neurodegenerative disorder caused by a cytosine‐adenine‐guanine (CAG) repeat expansion in the huntingtin gene. The disease exhibits sex‐related differences in symptomatology and disease progression, but the effect on brain structural biomarkers and the interaction between sex and CAG‐age ...
Jingwen Yao   +10 more
wiley   +1 more source

Dystonia and Ataxia Associated with Brain Iron Accumulation: Expanding the Phenotype of NPTX1‐Spinocerebellar Ataxia 50

open access: yes
Movement Disorders, EarlyView.
Gianmarco Dalla Zanna   +9 more
wiley   +1 more source

Longitudinal Blood‐Biomarker‐Based Assessment of Brain Injury in Patients Undergoing Deep Brain Stimulation and Magnetic Resonance–Guided Focused Ultrasound

open access: yesMovement Disorders, EarlyView.
Abstract Background Deep brain stimulation (DBS) and magnetic resonance–guided focused ultrasound (MRgFUS) are associated with neuroaxonal damage and astroglial activation; yet their extent and timing remain unclear despite clinical relevance for monitoring and outcome assessment.
Justina Dargvainiene   +12 more
wiley   +1 more source

Integrating Long‐Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia

open access: yesMovement Disorders, EarlyView.
Abstract Background Although many individuals with dystonia present with features indicative of single‐gene etiologies, obtaining definitive genetic diagnoses can be challenging. Objective We assessed the value of nanopore‐based long‐read sequencing (LRS) in achieving molecular clarification of dystonic syndromes.
Ugo Sorrentino   +30 more
wiley   +1 more source

Pediatric Genetic Dystonias: Current Diagnostic Approaches and Treatment Options. [PDF]

open access: yesLife (Basel)
Ceraolo G   +5 more
europepmc   +1 more source

Rare but Relevant? Assessing Variants in Dystonia‐Linked Genes in Parkinson's Disease

open access: yesMovement Disorders, EarlyView.
Abstract Background Dystonia and Parkinson's disease (PD) exhibit clinical and genetic overlap, but the relevance of dystonia gene variants in PD remains unclear. Objective The aim was to assess the frequency of dystonia‐linked pathogenic variants in PD.
Lara M. Lange   +37 more
wiley   +1 more source

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