Results 121 to 130 of about 1,099,358 (342)
Cartilage on the Move: Cartilage Lineage Tracing During Tadpole Metamorphosis
The reorganization of cranial cartilages during tadpole metamorphosis is a set of complex processes. The fates of larval cartilage-forming cells (chondrocytes) and sources of adult chondrocytes are largely unknown.
Brittain, Alison L. +3 more
core +1 more source
Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings
ABSTRACT Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs.
Dennis Yeow +6 more
wiley +1 more source
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
ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake +12 more
wiley +1 more source
Shared Genetic Effects and Antagonistic Pleiotropy Between Multiple Sclerosis and Common Cancers
ABSTRACT Objective Epidemiologic studies have reported inconsistent altered cancer risk in individuals with multiple sclerosis (MS). Factors such as immune dysregulation, comorbidities, and disease‐modifying therapies may contribute to this variability.
Asli Buyukkurt +5 more
wiley +1 more source
ABSTRACT Objective To delineate specific in vivo white matter pathology in neuronal intranuclear inclusion disease (NIID) using diffusion spectrum imaging (DSI) and define its clinical relevance. Methods DSI was performed on 42 NIID patients and 38 matched controls.
Kaiyan Jiang +10 more
wiley +1 more source
Analytical cell size distribution: lineage-population bias and parameter inference
Arthur Genthon
openalex +1 more source
Objective In complex diseases, it is challenging to assess a patient's disease state, trajectory, treatment exposures, and risk of multiple outcomes simultaneously, efficiently, and at the point of care. Methods We developed an interactive patient‐level data visualization and analysis tool (VAT) that automates illustration of the trajectory of a ...
Ji Soo Kim +18 more
wiley +1 more source
Genomic analysis of lineage-specific transmission of multidrug resistance tuberculosis in China
Objectives We investigated the genetic diversities and lineage-specific transmission dynamics of multidrug-resistant tuberculosis (MDR-TB), with the goal of determining the potential factors driving the MDR epidemics in China.Methods We curated a large ...
Yi-fan Li +9 more
doaj +1 more source
Synergy of single-cell sequencing analyses and in vivo lineage-tracing approaches: A new opportunity for stem cell biology [PDF]
Yuki Matsushita, Wanida Ono, Noriaki Ono
openalex +1 more source

