Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings
Annals of Clinical and Translational Neurology, EarlyView.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
Bicentric evaluation of employee satisfaction, patient safety and treatment quality: comparing different Health Information System (HIS) solutions. [PDF]
BMC Health Serv ResBrand M +7 more
europepmc +1 more source
Insights Into the Antigenic Repertoire of Unclassified Synaptic Antibodies
Annals of Clinical and Translational Neurology, EarlyView.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
Using the Electronic Health Record to Facilitate Drug Allergy Delabeling. [PDF]
Curr Allergy Asthma RepMolloy MJ +4 more
europepmc +1 more source
Public access to research data in language documentation: Challenges and possible strategies
, 2020 Mandana Seyfeddinipur +29 more
openalex +1 more source
Frailty Exacerbates Disability in Progressive Multiple Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.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
PSAzing up patient care: a quality improvement project for informed cancer screening. [PDF]
BMJ Open QualGodin SL, Ezell K, Stein A.
europepmc +1 more source
Southern great plains 1997 hydrological experiment: vegetation sampling and data documentation
, 1999 Steven E. Hollinger +1 more
openalex +1 more source
D2.1 Technical Documentation Of R1: Operation And Management Module
, 2017 Ainhoa Alonso‐Vicario +7 more
openalex +1 more source