Results 101 to 110 of about 42,692 (257)

Diagnostic significance of rhythmicity in postural hand tremor

open access: yesScientific Reports
Rhythmicity is an important feature of tremor that is widely viewed as having diagnostic significance. We hypothesized that rhythmicity might be a generic function of tremor severity, reflecting greater oscillatory entrainment of motor pathways. Postural
Patricia Weede   +5 more
doaj   +1 more source

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc   +7 more
wiley   +1 more source

Research on advances of essential tremor

open access: yesChinese Journal of Contemporary Neurology and Neurosurgery, 2017
Recent research shows besides the symptom of tremor, essential tremor (ET) patients also present with motor symptoms such as dysfunction of cerebellum, and non-motor symptoms (NMS) such as cognitive impairment, mood symptoms and loss of hearing.
Tian XU, Guo-hua ZHAO
doaj  

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro   +5 more
wiley   +1 more source

Multimodal Image Guidance in Subthalamic Deep Brain Stimulation for Parkinson's Disease

open access: yesAnnals of Neurology, EarlyView.
Objective Accurate electrode placement and individual stimulation parameters influence the outcomes of subthalamic deep brain stimulation in Parkinson's disease. Neuroimaging‐based models can help evaluate how electrode placement impacts improvement, aiming to reduce the burden of programming.
Patricia Zvarova   +27 more
wiley   +1 more source

The Dynamics of Neurofilament Light Chain in Spinal Muscular Atrophy

open access: yesAnnals of Neurology, EarlyView.
Objective Newborn screening (NBS) for spinal muscular atrophy (SMA) facilitates early diagnosis and treatment for affected individuals. However, fluid biomarkers that provide early insights into disease activity and outcomes in a neonatal cohort and those unable to access (due to reimbursement criteria) or deferring immediate treatment are lacking ...
Arlene D'Silva   +13 more
wiley   +1 more source

Use of Machine Learning to Identify Markers of Risk for Fragile X‐Associated Tremor/Ataxia Syndrome: A Preliminary Analysis

open access: yesAnnals of Neurology, EarlyView.
Objective The objective of this study was to examine whether machine learning has the capacity to prospectively identify and predict the emergence of Fragile X‐associated tremor/ataxia syndrome (FXTAS) among male fragile X premutation carriers (PCs). Methods We explored neuropsychological and motor evaluation metrics, brain magnetic resonance imaging ...
Chitrabhanu Gupta   +10 more
wiley   +1 more source

Use of Botulinum Toxin in Upper-Limb Tremor: Systematic Review and Perspectives

open access: yesToxins
Background: Tremor is the most common movement disorder, with significant functional and psychosocial consequences. Oral medications have been disappointing or limited by side effects.
Damien Motavasseli   +5 more
doaj   +1 more source

Daily‐Life, Sensor‐Derived Tremor Measures Are Sensitive to Progression in Early Parkinson's Disease

open access: yesAnnals of Neurology, EarlyView.
Objective Sensitive outcome measures are critical for evaluating the efficacy of novel treatments for Parkinson's disease (PD). In this study, we assess the sensitivity to change of sensor‐derived daily‐life tremor measures over 2 years in unmedicated and medicated persons with early PD.
Nienke A. Timmermans   +10 more
wiley   +1 more source

Shotgun Metagenomic Profiling of the Gut Virome in Prodromal and Confirmed Parkinson's Disease

open access: yesAnnals of Neurology, EarlyView.
We conducted a nested case‐control study within the Nurses’ Health Study and the Health Professionals Follow‐up Study to examine the role of the gut virome (GV) in Parkinson's disease (PD). We applied a novel metagenomic virome profiling approach, Bioinformatic Application for Quantification and Labeling of Viral taxonomy (BAQLaVa), to prospectively ...
Deepika Dinesh   +7 more
wiley   +1 more source

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