SCI Abstract

search
+
Reply to: Adult‐onset leukoencephalopathy caused by CSF1R mutations: Is all that glitters gold?
Reply to: Adult‐onset leukoencephalopathy caused by CSF1R mutations: Is all that glitters gold?
We appreciate Salsano and Benzoni for their interest in our work and their letter emphasizing rigorous interpretation for ...
Adult‐onset leukoencephalopathy caused by CSF1R mutations: Is all that glitters gold?
Adult‐onset leukoencephalopathy caused by CSF1R mutations: Is all that glitters gold?
Functional effects of different types of CSF1R variants. (A) Before CSF1 binding (yellow square), CSF1 receptor (CSF1R) pr...
Genetic defects are common in myopathies with tubular aggregates
Genetic defects are common in myopathies with tubular aggregates
Abstract Objective A group of genes have been reported to be associated with myopathies with tubular aggregates (TAs). Man...
Altered executive control network connectivity in anti‐NMDA receptor encephalitis
Altered executive control network connectivity in anti‐NMDA receptor encephalitis
Abstract Objective The goal of this study was to examine whether the static functional connectivity (FC) of the executive ...
The gut microbiota in pediatric multiple sclerosis and demyelinating syndromes
The gut microbiota in pediatric multiple sclerosis and demyelinating syndromes
Abstract Objective To examine the gut microbiota in individuals with and without pediatric-onset multiple sclerosis (MS). ...
Impact of T cells on neurodegeneration in anti‐GAD65 limbic encephalitis
Impact of T cells on neurodegeneration in anti‐GAD65 limbic encephalitis
Abstract Objective Direct pathogenic effects of autoantibodies to the 65 kDa isoform of glutamic acid decarboxylase...
Long‐term follow‐up in a cohort of children with isolated corpus callosum agenesis at fetal MRI
Long‐term follow‐up in a cohort of children with isolated corpus callosum agenesis at fetal MRI
Abstract Objective This long-term retrospective follow-up study aimed to address the knowledge gap between prenatal diagno...
COVID‐19‐associated immune‐mediated encephalitis mimicking acute‐onset Creutzfeldt‐Jakob disease
COVID‐19‐associated immune‐mediated encephalitis mimicking acute‐onset Creutzfeldt‐Jakob disease
Abstract We report a subtype of immune-mediated encephalitis associated with COVID-19, which closely mimics acute-onset sp...
Adult‐onset rapidly worsening progressive myoclonic epilepsy caused by a novel variant in DHDDS
Adult‐onset rapidly worsening progressive myoclonic epilepsy caused by a novel variant in DHDDS
Abstract Progressive myoclonic epilepsy (PME) is a heterogeneous neurogenetic disorder manifesting as progressive myoclonu...
Using electronic health data to explore effectiveness of ICU EEG and anti‐seizure treatment
Using electronic health data to explore effectiveness of ICU EEG and anti‐seizure treatment
Abstract Objectives The purpose of this study was to examine critical care continuous electroencephalography (cEEG) utiliz...
Pharmacological perturbation reveals deficits in D2 receptor responses in Thap1 null mice
Pharmacological perturbation reveals deficits in D2 receptor responses in Thap1 null mice
Abstract The primary dystonia DYT6 is caused by mutations in the transcription factor Thanatos-associated protein 1 (THAP1...
Optical coherence tomography in multiple sclerosis: A 3‐year prospective multicenter study
Optical coherence tomography in multiple sclerosis: A 3‐year prospective multicenter study
Abstract Objective To evaluate changes over 3 years in the thickness of inner retinal layers including the peripapi...
Before attributing encephalomyelitis to SARS‐CoV‐2 vaccinations thoroughly exclude differentials
Before attributing encephalomyelitis to SARS‐CoV‐2 vaccinations thoroughly exclude differentials
Letter to the Editor With interest we read the article by Kania et al. about a 19-year female diagnosed...
Interaction between sex and neurofilament light chain on brain structure and clinical severity in Huntington’s disease
Interaction between sex and neurofilament light chain on brain structure and clinical severity in Huntington’s disease
Abstract Female Huntington’s disease (HD) patients have consistently shown a faster clinical worsening than male, b...
Transcriptome analysis of collagen VI‐related muscular dystrophy muscle biopsies
Transcriptome analysis of collagen VI‐related muscular dystrophy muscle biopsies
Abstract Objective To define the transcriptomic changes responsible for the histologic alterations in skeletal muscle and ...
Determinants of quality of life in Parkinson’s disease: a perspective of novel clinical subtypes
Determinants of quality of life in Parkinson’s disease: a perspective of novel clinical subtypes
Abstract Objective New subtyping classification systems of Parkinson’s disease (PD) have been proposed for phenotyp...
The case of a 29‐year‐old man with psychiatric illness and parkinsonism
The case of a 29‐year‐old man with psychiatric illness and parkinsonism
Summary of Case This is a case report on a 29-year-old left-handed man with depression, anxiety, OCD, ...
Measuring treatment response to advance precision medicine for multiple sclerosis
Measuring treatment response to advance precision medicine for multiple sclerosis
Abstract Objective To assess the independent contributions of clinical measures (relapses, Expanded Disability Status Scal...
Clinical and genetic characterization of adult‐onset leukoencephalopathy caused by CSF1R mutations
Clinical and genetic characterization of adult‐onset leukoencephalopathy caused by CSF1R mutations
Abstract Objective Mutations in the colony-stimulating factor 1 receptor gene (CSF1R) were identified as a cause of adult-...
Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease
Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease
Abstract Objective To delineate the full phenotypic spectrum of BCS1L-related disease, provide better understanding of the...
The Multiple Sclerosis Treatment Optimization Program
The Multiple Sclerosis Treatment Optimization Program
Abstract Objective To design and implement a health system level intervention to reduce escalating multiple sclerosis (MS)...
Infant study of hemispheric asymmetry after long‐gap esophageal atresia repair
Infant study of hemispheric asymmetry after long‐gap esophageal atresia repair
Abstract Objectives Previous studies have demonstrated that infants are typically born with a left-greater-than-right fore...
A contemporary review of therapeutic and regenerative management of intracerebral hemorrhage
A contemporary review of therapeutic and regenerative management of intracerebral hemorrhage
Abstract Intracerebral hemorrhage (ICH) remains a common and debilitating form of stroke. This neurological emergency must...
Differentiation of viral and autoimmune central nervous system inflammation by kynurenine pathway
Differentiation of viral and autoimmune central nervous system inflammation by kynurenine pathway
Abstract Objective To determine whether the metabolites of Kynurenine pathway (KP) could serve as biomarkers for distingui...
Lack of progression of beta dynamics after long‐term subthalamic neurostimulation
Lack of progression of beta dynamics after long‐term subthalamic neurostimulation
Abstract Objective To investigate the progression of neural and motor features of Parkinson's disease in a longitudinal st...
Reply to: Before attributing encephalomyelitis to SARS‐CoV‐2 vaccinations exclude differentials
Reply to: Before attributing encephalomyelitis to SARS‐CoV‐2 vaccinations exclude differentials
We appreciate interest in our case report,1 however, we cannot agree with the comments in Dr Finsterer's letter.2 ...
Hypotonia–cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression
Hypotonia–cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression
Abstract Two siblings presented similarly with congenital hypotonia, lactic acidosis, and failure to thrive. Later in chil...
Exploring diazoxide and continuous glucose monitoring as treatment for Glut1 deficiency syndrome
Exploring diazoxide and continuous glucose monitoring as treatment for Glut1 deficiency syndrome
Abstract Glut1 deficiency syndrome is caused by SLC2A1 mutations on chromosome 1p34.2 that impairs glucose transport acros...
Amyloid‐dependent and amyloid‐independent effects of Tau in individuals without dementia
Amyloid‐dependent and amyloid‐independent effects of Tau in individuals without dementia
Abstract Objective To investigate the relationship between the topography of amyloid-β plaques, tau neurofibrillary ...
The potassium channel Kv1.3 as a therapeutic target for immunocytoprotection after reperfusion
The potassium channel Kv1.3 as a therapeutic target for immunocytoprotection after reperfusion
Abstract Objective The voltage-gated potassium channel Kv1.3, which is expressed on activated, disease-associated microgli...
Load More
format_indent_increase