Results 121 to 130 of about 8,199,790 (258)
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source
Association Between Motor Pathway Damage and Motor Deficit in Upper and Lower Limb in People With MS
ABSTRACT Objective Corticospinal tract damage is common in people with MS, but the degree of clinical symptoms varies. We hypothesize that corticospinal tract lesions are more extensive and severe in people with MS with motor impairments in both upper and lower limbs.
Mathilde Liffran +13 more
wiley +1 more source
Long‐Term Efficacy of Immunotherapy in Autoimmune Autonomic Ganglionopathy—A 10‐Year Follow Up Study
ABSTRACT Objective Autoimmune autonomic ganglionopathy (AAG) is a rare but potentially treatable cause of severe autonomic failure. Evidence guiding long‐term immunotherapy, treatment sequencing, and residual autonomic impairment is limited. We evaluated long‐term treatment response, residual autonomic dysfunction, and relapse patterns in patients with
Giacomo Chiaro +6 more
wiley +1 more source
This glass lantern slide features a map of the Medical Colleg of South Carolina Medical Center campus in ...
Medical College of South Carolina (1952-1969). Department of Medical Illustration
core
BACKGROUND AND AIM: The aim of this study was to systematically analyze the effect of levamisole on treatment of recurrent aphthous stomatitis (RAS).
Goli Chamani +5 more
doaj
Medical Subject Heading (MeSH) annotations illuminate maize genetics and evolution. [PDF]
Beissinger TM, Morota G.
europepmc +1 more source
Screening Routine Clinical Notes for Epilepsy Surgery Candidates Using Large Language Models
ABSTRACT Objective Epilepsy surgery is severely underutilized despite proven efficacy, with substantial under‐referral of eligible patients in routine clinical practice. This study evaluated the potential role of large language models (LLMs) as decision‐support tools for screening unstructured clinical notes to identify epilepsy surgery candidates and ...
Uriel Fennig +9 more
wiley +1 more source
This glass lantern slide features an aerial view of the Medical Center building of the Medical College of the State of South Carolina in ...
Medical College of South Carolina (1952-1969). Department of Medical Illustration
core
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source
ABSTRACT Objective Neurochemical levels measured by brain MR spectroscopy (MRS) have been proposed as endpoints for clinical trials in early‐stage spinocerebellar ataxia (SCA) trials. We tested their trial‐readiness by quantifying neurochemicals in three affected brain regions in early‐stage cohorts of SCA2 and SCA3, examining their reproducibility in ...
James M. Joers +19 more
wiley +1 more source

