Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1 [PDF]
Spinal muscular atrophy with respiratory distress (SMARD1) is an autosomal recessive neuromuscular disease caused by mutations in the IGHMBP2 gene, encoding the immunoglobulin μ-binding protein 2, leading to motor neuron degeneration.
Corti, Stefania +4 more
core +2 more sources
Nationwide Survey of Atopic Myelitis and Plexin D1‐Immunoglobulin G‐Related Pain
ABSTRACT Objective To elucidate the features of plexin D1‐immunoglobulin (Ig)G‐associated neuropathic pain and its relationship to atopic myelitis (AM) in a nationwide Japanese survey. Methods A preliminary survey questionnaire was sent to 1574 selected departments (neurology and pediatrics/pediatric neurology) to explore the numbers of AM and plexin ...
Jun‐ichi Kira +10 more
wiley +1 more source
Neuron-Specific HuR-Deficient Mice Spontaneously Develop Motor Neuron Disease [PDF]
Human Ag R (HuR) is an RNA binding protein in the ELAVL protein family. To study the neuron-specific function of HuR, we generated inducible, neuron-specific HuR-deficient mice of both sexes.
Bai, Ying +10 more
core +1 more source
Spinal cord disease due to melioidosis [PDF]
Acute leioidosis typically presents as severe pneumonia or septicaemia. Woods et al have described neurological presentations of melioidosis affecting the brainstem and affecting motor weakness. We describe a case of acute melioidosis which predominatly affected the spinal cord to produce paraplegia mimicking acute epidural abscess.
Bartley, Paul P. +7 more
openaire +3 more sources
Insights Into the Antigenic Repertoire of Unclassified Synaptic Antibodies
ABSTRACT Objective We sought to characterize the sixth most common finding in our neuroimmunological laboratory practice (tissue assay‐observed unclassified neural antibodies [UNAs]), combining protein microarray and phage immunoprecipitation sequencing (PhIP‐Seq). Methods Patient specimens (258; 133 serums; 125 CSF) meeting UNA criteria were profiled;
Michael Gilligan +22 more
wiley +1 more source
Postmortem diffusion MRI of the entire human spinal cord at microscopic resolution
The human spinal cord is a central nervous system structure that plays an important role in normal motor and sensory function, and can be affected by many debilitating neurologic diseases. Due to its clinical importance, the spinal cord is frequently the
Evan Calabrese +6 more
doaj +1 more source
Control of astrocyte progenitor specification, migration and maturation by Nkx6.1 homeodomain transcription factor. [PDF]
Although astrocytes are the most abundant cell type in the central nervous system (CNS), little is known about their molecular specification and differentiation.
Chen, Yidan +10 more
core +3 more sources
Frailty Exacerbates Disability in Progressive Multiple Sclerosis
ABSTRACT Background To evaluate frailty in severe progressive multiple sclerosis (PMS) and to investigate the underlying mechanisms. Methods This prospective, cross‐sectional, multicenter study enrolled a late severe PMS group requiring skilled nursing (n = 53) and an age, sex, and disease duration‐matched control PMS group (n = 53).
Taylor R. Wicks +10 more
wiley +1 more source
Induced CNS expression of CXCL1 augments neurologic disease in a murine model of multiple sclerosis via enhanced neutrophil recruitment. [PDF]
Increasing evidence points to an important role for neutrophils in participating in the pathogenesis of the human demyelinating disease MS and the animal model EAE.
Doty, Daniel J +7 more
core +1 more source
Real‐World Investigation of Satralizumab in Patients With Neuromyelitis Optica Spectrum Disease
ABSTRACT Objective Satralizumab, a monoclonal antibody targeting the interleukin‐6 receptor, has demonstrated efficacy in clinical trials for neuromyelitis optica spectrum disorder (NMOSD). However, its real‐world effectiveness and safety compared to conventional immunosuppressive therapies remain uncertain.
Li‐Tsung Lin +2 more
wiley +1 more source

