A5004926870- Muscle Physiology and Disorders
- Acute Ischemic Stroke Management
- Neurogenetic and Muscular Disorders Research
- Epilepsy research and treatment
- Hereditary Neurological Disorders
- Neurological disorders and treatments
- Intracerebral and Subarachnoid Hemorrhage Research
- Amyotrophic Lateral Sclerosis Research
- Ethics in Clinical Research
- Botulinum Toxin and Related Neurological Disorders
- Health Systems, Economic Evaluations, Quality of Life
- Cell Adhesion Molecules Research
- Diversity and Career in Medicine
- Parkinson's Disease Mechanisms and Treatments
- Neurological diseases and metabolism
- Multiple Sclerosis Research Studies
- Advanced MRI Techniques and Applications
- Health and Medical Research Impacts
- Skin and Cellular Biology Research
- Biomedical Ethics and Regulation
- Infectious Encephalopathies and Encephalitis
- Full-Duplex Wireless Communications
- Bacterial Infections and Vaccines
- Genetic Neurodegenerative Diseases
- RNA Research and Splicing
National Institute of Neurological Disorders and Stroke
2017-2025
National Institutes of Health
2017-2025
Office of the Director
2021-2024
NIHR Evaluation Trials and Studies Coordinating Centre
2023-2024
Health First
2023
John Wiley & Sons (United States)
2021-2022
Sahlgrenska University Hospital
2022
University of Gothenburg
2022
Sorbonne Université
2021
Centre de Recherche en Myologie
2021
Post-infectious myalgic encephalomyelitis/chronic fatigue syndrome (PI-ME/CFS) is a disabling disorder, yet the clinical phenotype poorly defined, pathophysiology unknown, and no disease-modifying treatments are available. We used rigorous criteria to recruit PI-ME/CFS participants with matched controls conduct deep phenotyping. Among many physical cognitive complaints, one defining feature of was an alteration effort preference, rather than or central fatigue, due dysfunction integrative...
Giant axonal neuropathy is a rare, autosomal recessive, pediatric, polysymptomatic, neurodegenerative disorder caused by biallelic loss-of-function variants in
Background: Neuroinflammation and human endogenous retroviruses (HERV) are thought to have a role in the pathophysiology of amyotrophic lateral sclerosis (ALS). Therapy directed against has demonstrated positive effects during vitro biomarker studies. Consequently, present study was undertaken assess safety tolerability long-term antiretroviral therapy (ART), Triumeq (abacavir, lamivudine, dolutegravir) exposure patients with ALS, efficacy biomarkers disease progression. Methods: Patients...
<h2>Summary</h2><h3>Background</h3> <i>RYR1</i>-related myopathies (<i>RYR1</i>-RM) are caused by pathogenic variants in the <i>RYR1</i> gene which encodes type 1 ryanodine receptor (RyR1). RyR1 is sarcoplasmic reticulum (SR) calcium release channel that mediates excitation-contraction coupling skeletal muscle. sub-conductance, SR leak, reduced expression, and oxidative stress often contribute to <i>RYR1</i>-RM pathogenesis. Loss of RyR1-calstabin1 association, increased open probability...
<h3>Objective:</h3> To evaluate the associations among diffusion-weighted imaging (DWI) lesions, blood pressure (BP) dysregulation, MRI markers of small vessel disease, and poor outcome in a large, prospective study primary intracerebral hemorrhage (ICH). <h3>Methods:</h3> The Ethnic/Racial Variations Intracerebral Hemorrhage (ERICH) is multicenter, observational ICH white, black, Hispanic patients. <h3>Results:</h3> Of 600 patients, mean (±SD) age was 60.8 ± 13.6 years, median...
Oscillatory activity within sensorimotor networks is characterized by time-varying changes in phase and power. The influence of interactions between oscillatory power on human motor function, like corticospinal output, unknown. We addressed this gap knowledge delivering transcranial magnetic stimulation (TMS) to the cortex during electroencephalography recordings 20 healthy participants. Motor evoked potentials, a measure excitability, were categorized offline based mu (8-12 Hz) beta (13-30...
Objective To noninvasively assess myelin status in chronic white matter lesions of multiple sclerosis (MS), we developed and evaluated a simple classification scheme based on T1 relaxation time maps derived from 7‐tesla postmortem vivo MRI. Methods Using the MP2RAGE MRI sequence, classified 36 4 MS brains as “long‐T1,” “short‐T1,” “mixed‐T1” by visual comparison to neocortex. Within these groups, compared times histologically measures axons. We performed similar analysis 235 with known date...
Functional movement disorders (FMDs), part of the wide spectrum functional neurological (conversion disorders), are common and often associated with a poor prognosis. Nevertheless, little is known about their neurobiological underpinnings, particularly regard to contribution genetic factors. Because FMD stress-related share core biobehavioural manifestations, we investigated whether variants in genes also contributed, directly interactively childhood trauma, clinical circuit-level phenotypes...
Background A central feature of myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is post-exertional malaise (PEM), which an acute worsening symptoms after a physical, emotional and/or mental exertion. Dynamic measures PEM have historically included scaled questionnaires, not been validated in ME/CFS. To enhance our understanding and how best to measure it, we conducted semistructured qualitative interviews (QIs) at the same intervals as visual analogue scale (VAS) cardiopulmonary...
Abstract Muscular dystrophies due to heterozygous pathogenic variants in LMNA gene cover a broad spectrum of clinical presentations and severity with an age onset ranging from the neonatal period adulthood. The natural history these conditions is not well defined, particularly patients congenital or early who arguably present highest disease burden. Thus definition endpoints along clinically revelant outcome measures essential establishing both care planning trial readiness for this patient...
Abstract Objective A well‐established bidirectional relationship exists between sleep and epilepsy. Patients with epilepsy tend to have less efficient shorter rapid eye movement (REM) sleep. Seizures are far more likely arise from transitions non‐REM compared REM Delay in onset or reduction duration may reciprocal interactions seizure occurrence. Greater insight into the occurrence is essential our understanding of circadian patterns predictability activity. We assessed a cohort adults...
Abstract Human immunodeficiency virus type-1 (HIV-1) is responsible for significant mortality and morbidity worldwide. Despite complete control of viral replication with antiretrovirals, cells integrated HIV-1 provirus can produce transcripts. In a cross-sectional study 84 HIV+ individuals whom 43 were followed longitudinally, we found that RNAs are present in extracellular vesicles (EVs) derived from cerebrospinal fluid serum all individuals. We used seven digital droplet polymerase chain...
Background Cervical dystonia is the most common form of focal and studied neurological condition in patients receiving botulinum toxin. In clinical trials toxin, there a placebo response, but this has not been systematically. Objectives A systematic review meta-analysis were conducted to assess compare peak duration response people with cervical toxin randomized, blinded controlled trials. Methods Three databases (Embase, PubMed, Scopus) two trial registers (Cochrane CENTRAL Cochrane...
Abstract Collagen VI-related dystrophies (COL6-RDs) manifest with a spectrum of clinical phenotypes, ranging from Ullrich congenital muscular dystrophy (UCMD), presenting prominent symptoms and characterised by progressive muscle weakness, joint contractures respiratory insufficiency, to Bethlem dystrophy, milder typically recognised later at times resembling limb girdle intermediate phenotypes falling between UCMD dystrophy. Despite pathology features highly suggestive COL6-RD, some...
Background Post-exertional malaise (PEM) is a central feature of myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) and has emerged as prominent Long COVID. The optimal clinical approach to PEM inconclusive, studies the impact exercise have yielded contradictory results. Objective objective this study was examine in COVID by assessing prevalence self-reported across cohorts symptom responses patients standardized stressor. Secondarily, were compared those ME/CFS healthy volunteers....
Rationale: Whether sleep-disordered breathing (SDB) severity and diminished lung function act synergistically to heighten the risk of adverse health outcomes remains a topic significant debate.Objectives: The current study sought determine whether association between lower mortality would be stronger in those with increasing SDB community-based cohort middle-aged older adults.Methods: Full montage home sleep testing spirometry data were analyzed on 6,173 participants Sleep Heart Health...
<h3>Objective</h3> To identify the rate of change clinical outcome measures in children with 2 types congenital muscular dystrophy (CMD), COL6-related dystrophies (COL6-RDs) and LAMA2-related (LAMA2-RDs). <h3>Methods</h3> Over course 4 years, 47 individuals (23 COL6-RD 24 LAMA2-RD) to 22 years age were evaluated. Assessments included Motor Function Measure 32 (MFM32), myometry (knee flexors extensors, elbow extensors), goniometry extension), pulmonary function tests, quality-of-life...
Summary Objective We aimed to predict language deficits after epilepsy surgery. In addition evaluating surgical factors examined previously, we determined the impact of extent functional magnetic resonance imaging (fMRI) activation that was resected on naming ability. Method Thirty‐five adults (mean age 37.5 ± 10.9 years, 13 male) with temporal lobe completed a preoperative fMRI auditory description decision task, which reliably activates frontal and networks. Patients underwent resections...
Giant axonal neuropathy (GAN) is an ultra-rare autosomal recessive, progressive neurodegenerative disease with early childhood onset that presents as a prominent sensorimotor and commonly progresses to affect both the PNS CNS. The caused by biallelic mutations in GAN gene located on 16q23.2, leading loss of functional gigaxonin, substrate specific ubiquitin ligase adapter protein necessary for regulation intermediate filament turnover. Here, we report cross-sectional data from first study...
Objectives Reactivation of HERV‐K(HML‐2) has been found in subsets individuals with amyotrophic lateral sclerosis (ALS). This study examines the antibody response against HML‐2 ALS and analyzes its clinical relevance. Methods Antibodies to envelope (env) were analyzed using a peptide array for epitope mapping by enzyme‐linked immunosorbent assay (ELISA) 242 healthy donors, 243 85 multiple (MS) individuals. Extracellular levels digital polymerase chain reaction (PCR). Results sera recognized...
<h3>Background and Objectives</h3> To examine whether the brain biomarkers total-tau (T-tau), glial fibrillary acidic protein (GFAP), β-amyloid (Aβ) isomers 40 42 in plasma relate to corresponding concentrations CSF, blood-brain barrier integrity, duration of postconcussion syndrome (PCS) due repetitive head impacts (RHIs) professional athletes. <h3>Method</h3> In this cross-sectional study, athletes with persistent PCS RHI (median 1.5 years after recent concussion) uninjured controls were...