Results 141 to 150 of about 1,024,120 (317)
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Ophthalmic manifestations in Lyme borreliosis. A review
, 1994 Lyme borreliosis is an emerging tick-borne spirochetal infection characterized by a broad variety of symptoms, ranging from neurologic disorders and different skin manifestations to cardiac symptoms.
Feigl, Beatrix +2 more
core
, 2019 In the last decade, as the biopsychosocial model of patient health care has expanded, there has been an increased focus on the influence of psychological manifestations on patient symptoms and health-related outcomes.
Smith, Ashley D, Schneider, Geoff
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective High‐resolution MRI enables detailed assessment of intracranial vessel wall pathology in moyamoya vasculopathy. We aimed to classify adult moyamoya vasculopathy etiologies using high‐resolution MRI and to examine subtype‐specific associations between high‐resolution MRI features and ischemic infarction.
Guangsong Han +8 more
wiley +1 more source
Advancing Age Modulates Associations Between Cognitive Impairment and Brain Volumes in Early MS
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Introduction Cognitive impairment is common in multiple sclerosis (MS), but manifestations following the first demyelinating event are relatively unexplored. We investigated cross‐sectional associations between magnetic resonance imaging (MRI)–derived brain volumes and the presence of cognitive impairment outcomes five years after the first ...
Piriyankan Ananthavarathan +14 more
wiley +1 more source
What we know about ocular manifestations of Ebola
, 2014 Majid Moshirfar,1 Carlton R Fenzl,2 Zhan Li3 1Department of Ophthalmology, Francis I Proctor Foundation, University of California San Francisco, San Francisco, CA, USA; 2John A Moran Eye Center, University of Utah, Salt Lake City, UT, USA ...
Li Z, Fenzl CR, Moshirfar M
core
Editorial: Dermatologic manifestations of primary immune deficiency disorders in children
Frontiers in Pediatrics, 2023 Oded Shamriz +2 more
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Central nervous system (CNS) inflammatory demyelinating syndromes, including multiple sclerosis (MS), aquaporin‐4 antibody–positive neuromyelitis optica spectrum disorder (AQP4 + NMOSD), and myelin oligodendrocyte glycoprotein (MOG) antibody–associated disease (MOGAD), occasionally overlap.
Bade Gulec +6 more
wiley +1 more source
Neurological Manifestations in Familial Mediterranean Fever: a Genotype-Phenotype Correlation Study
Background and Aims: Familial Mediterranean Fever (FMF) is a periodic auto-inflammatory disease with an autosomal recessive hereditary pattern. The aim of this study is to explain the spectrum of possible neurological manifestations and its genotype ...
مرتضایی, مریم +4 more
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To evaluate the efficacy and safety of ofatumumab in patients with myelin oligodendrocyte glycoprotein antibody–associated disease (MOGAD), and compare it with rituximab. Methods We conducted a single–center, observational study including 22 MOGAD patients treated with ofatumumab and 21 treated with rituximab.
Yuxin Fan +5 more
wiley +1 more source