Results 101 to 110 of about 247,181 (310)

Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar, Jeremy Johnson, Susanne Watkins, Eoin Mulroy   +3 more
wiley   +1 more source

MOGAD Is the Most Common Cause of Isolated Optic Neuritis in Children

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives The study aimed to characterize the clinical features, etiologies, and outcomes of isolated, first‐time pediatric ON in the post‐MOG‐IgG era. Methods This was a single‐center retrospective cohort study at Texas Children's Hospital of patients diagnosed with first‐time ON between 2018–2024, with follow‐up data collected through 2025.
Chaitanya Aduru, Akansha Chandrasekar, Kyla Blasingame, Jonathan Rosen, Jesse M. Levine, Karla Salazar, Madhuri Chilakapati, Rod Foroozan, Victoria Hardwick, Jonathan M. Yarimi, Nikita Shukla, Timothy E. Lotze, Kristen S. Fisher, Alexander J. Sandweiss   +13 more
wiley   +1 more source

The detection of surfactant proteins A, B, C and D in the human brain and their regulation in cerebral infarction, autoimmune conditions and infections of the CNS

, 2013
Surfactant proteins (SP) have been studied intensively in the respiratory system. Surfactant protein A and surfactant protein D are proteins belonging to the family of collectins each playing a major role in the innate immune system.
Dankwart Stiller, Stefan Schob, Lars Bräuer, Kekulé, Alexander, Alexander S Kekulé, Erik Maronde, Maronde, Erik, Bräuer, Lars, Stiller, Dankwart, Sel, Saadettin, Schicht, Martin, Saadettin Sel, Alexander S. Kekulé, Martin Schicht, Schob, Stefan, Paulsen, Friedrich, Friedrich Paulsen   +16 more
core   +1 more source

A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley   +1 more source

Heat Shock Protein Expression in the Eye and in Uveal Melanoma

Investigative Opthalmology & Visual Science, 2003
Expression of heat shock proteins (HSPs) is of prognostic significance in several tumor types, whereas HSPs may also have clinical use as stimulators in tumor vaccination. HSP expression levels were determined in normal eyes and in uveal melanoma and tested whether HSPs expression was associated with prognostic parameters in the uveal melanoma ...
Missotten, Guy S., Journée-de Korver, Johanna G., de Wolff-Rouendaal, Didi, Keunen, Jan E., Schlingemann, Reinier O., Jager, Martine J.   +5 more
openaire   +3 more sources

Characterization of the Proteins HPIP and VENTX2 as Novel Regulatory Proteins of Human Hematopoiesis [PDF]

, 2006
The hallmark of hematopoietic stem cells (HSC) is their ability of self-renewal and differentiation into multiple hematopoietic cell lineages. Although the molecular network controlling stem cell fate decisions is largely unknown, multiple studies have ...
Arseni, Natalia, Arseni, N.
core  

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source

Electrophoretic study of muscle and eye-lens proteins of three species of nemipterids [PDF]

, 1989
Muscle and eye-lens proteins of three fishes belonging to family Nemipteridae N.japonicus, N.mesoprion and N.delagoae were determined by polyacrylamide gel electrophoresis. Densitometer scanning revealed species specific patlcrn for eye-lens proteins.
Chakraborty, S K
core  

Eye lens proteins as genetic markers in anguillids

, 1991
Summary. The identification of breeding stocks of Atlantic eels presents a dilemma which should be solved by genetic analyses. The eye lens crystallins are encoded by a family of genes which differentiate vertebrates.
Teixeira, Aylton Saturnino, Jamieson, Alan   +1 more
core   +1 more source

Profound Re-Organization of Cell Surface Proteome in Equine Retinal Pigment Epithelial Cells in Response to In Vitro Culturing [PDF]

, 2012
The purpose of this study was to characterize the cell surface proteome of native compared to cultured equine retinal pigment epithelium (RPE) cells. The RPE plays an essential role in visual function and represents the outer blood-retinal barrier.
Kerstin N. Euler, Ueffing, Marius, Fröhlich, K.J.H., Stefanie Hauck, Marius Ueffing, Euler, K.N., Fröhlich, Kristina J. H., Kerstin Euler, Claudia Alge-priglinger, Stefanie M. Hauck, Deeg, Cornelia A., Hauck, Stefanie M., Kristina J. H. Fröhlich, Euler, Kerstin N., Cornelia A. Deeg, Christoph Szober, Szober, Christoph M., Hauck, S.M., Ueffing, M., Kristina Fröhlich, Cornelia Deeg, Christoph M. Szober, Szober, C.M., Alge-Priglinger, C.S., Alge-Priglinger, Claudia, Deeg, C.A.   +25 more
core   +1 more source