Results 91 to 100 of about 11,554 (291)
Ocular Motor Instability: A Neurodiagnostic Sign of Prenuclear Disease
Accurate diagnosis of efferent visual system disease in Neuro-ophthalmology involves the classification of clinical signs as prenuclear, nuclear, or infranuclear in origin.
Michael C. Brodsky
core
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
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
[Ocular motility disorders in a patient with Fabry's disease]
Fabry's disease (FD) is a rare lysosomal storage disorder. Early cerebral manifestations are a major and often life-threatening burden of the disease. We present a 38-year-old male FD patient with a prior history of six different episodes of stroke and ...
Fiore, B;Klopfer, M;Schwebig, C;Wiescher, A;Lanzl, I
core +1 more source
ABSTRACT Background Cognitive impairment is a common non‐motor symptom in Multiple Sclerosis (MS), negatively affecting autonomy and Quality of Life (QoL). Innovative rehabilitation strategies, such as semi‐immersive virtual reality (VR) and computerized cognitive training (CCT), may offer advantages over traditional cognitive rehabilitation (TCR ...
Maria Grazia Maggio +8 more
wiley +1 more source
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
Ocular Motility in Childhood Migraine
Headache in childhood has a remarkably constant occurrence in different socio-economic, cultural, geographic and ethnic groups. Bille\u27s study on the incidence and prevalence of headache in children is most often quoted.
Charles G. Maitland, MD
core
ABSTRACT Objective Isolated rapid eye movement sleep behavior disorder (iRBD) is a prodromal state for Lewy body disorders and exhibits biological heterogeneity that may influence clinical expression and progression. We examined clinical features in individuals with iRBD and biomarker‐defined synucleinopathy.
Daniel Weintraub +24 more
wiley +1 more source
Ocular Neuromyotonia: A More Common Entity than Previously Thought
Ocular neuromyotonia is an uncommon condition classically associated with post-radiation changes. It is defined as slowing of a saccade to primary position in one eye only after sustained lateral gaze.
Michael Rosenberg
core
Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni +19 more
wiley +1 more source
Disorders of Ocular Motility in Craniofacial Dysostosis [PDF]
B, Greaves, J, Walker, K, Wybar
openaire +2 more sources

