Results 111 to 120 of about 197,800 (388)

Performance of five automated white matter hyperintensity segmentation methods in a multicenter dataset

Scientific Reports, 2019
White matter hyperintensities (WMHs) are a common manifestation of cerebral small vessel disease, that is increasingly studied with large, pooled multicenter datasets.
R. Heinen, M. Steenwijk, F. Barkhof, J. M. Biesbroek, W. M. van der Flier, H. Kuijf, N. Prins, H. Vrenken, G. Biessels, J. de Bresser, E. G. J. J. M. F. L. G. D. A. C. J. M. O. N. R. N. M. van den Berg Biessels Boomsma Exalto Ferro Frijns , E. van den Berg, G. Biessels, J. Boomsma, L. Exalto, D. Ferro, C. Frijns, O. Groeneveld, R. Heinen, N. M. van Kalsbeek, J. Verwer, J. de Bresser, H. Kuijf, M. Emmelot-Vonk, H. Koek, M. Benedictus, J. Bremer, W. M. van der Flier, A. Leeuwis, J. Leijenaar, N. Prins, P. Scheltens, B. Tijms, F. Barkhof, M. Wattjes, C. Teunissen, T. Koene, J. Boomsma, H. Weinstein, M. Hamaker, R. Faaij, M. Pleizier, M. Prins, E. Vriens   +43 more
semanticscholar   +1 more source

From Multiple Congenital Anomalies to Pituitary Gland Malformation: Wide Spectrum of Clinical Features in a Family With FOXA2 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT FOXA2 (hepatocyte nuclear factor‐3β, HNF‐3β) encodes a transcriptional activator involved in early embryogenesis, particularly in the patterning and differentiation of midline structures such as the neural tube, foregut, and pituitary gland. Its role in human pathogenesis was first suspected when patients with deletion of chromosome 20p11.2 ...
Christopher Connolly, Hemant A. Parmar, Lauren Hipp, Tomoyasu Higashimoto   +3 more
wiley   +1 more source

Common NOTCH3 Variants and Cerebral Small-Vessel Disease. [PDF]

, 2015
BACKGROUND AND PURPOSE: The most common monogenic cause of cerebral small-vessel disease is cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, caused by NOTCH3 gene mutations.
Adib-Samii, Poneh, Bevan, Steve, Boncoraglio, Giorgio, Dichgans, Martin, Hassan, Ahamad, Levi, Christopher, Markus, Hugh S, Meschia, James, Rosand, Jonathan, Rost, Natalia S, Rothwell, Peter M, Rutten-Jacobs, Loes CA, Sudlow, Cathie, Thijs, Vincent, Traylor, Matthew   +14 more
core   +2 more sources

Blood–brain barrier leakage in relation to white matter hyperintensity volume and cognition in small vessel disease and normal aging

Brain Imaging and Behavior, 2018
Blood–brain barrier (BBB) leakage increases with age and is involved in the pathophysiology of cerebral small vessel disease (cSVD). We examined the relationship between BBB leakage and white matter hyperintensity (WMH) volume and cognition, in cSVD ...
C. E. Zhang, S. Wong, Renske Uiterwijk, W. Backes, J. Jansen, C. Jeukens, R. V. van Oostenbrugge, J. Staals   +7 more
semanticscholar   +1 more source

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source

Establishment and multifaceted characterization of a graded spinal cord injury model based on graduated impact depth

Animal Models and Experimental Medicine, EarlyView.
We established a graded spinal cord injury (SCI) model based on graduated impact depth, which was subsequently characterized across multiple dimensions, including locomotor function, imaging, histology, and transcriptomic profiles. We further identified transcriptomic changes in graded SCI at different time points postinjury and investigated the ...
Gang Zhou, Yue Hu, Zhimin Li, Shiyuan Han, Yuejia Li, Yongning Li, Jun Gao   +6 more
wiley   +1 more source

An improved algorithm of white matter hyperintensity detection in elderly adults

NeuroImage: Clinical, 2019
Highlights • OASIS-AD is a method for automatic segmentation of white matter hyperintensities in older adults using structural brain MRIs.• OASIS-AD is an approach evolved from OASIS, which was developed for automatic lesion segmentation in multiple ...
T. Ding, A. Cohen, Erin O'Connor, H. Karim, A. Crainiceanu, J. Muschelli, O. Lopez, W. Klunk, H. Aizenstein, Robert T. Krafty, C. Crainiceanu, D. Tudorascu   +11 more
semanticscholar   +1 more source

A Positive Association between the Atherogenic Index of Plasma and White Matter Hyperintensity [PDF]

, 2022
Hyun-Suk Kwon, Jun-Seong Ko, Jun‐Hyuk Lee, Kil-Young Kwon, Jee Hye Han   +4 more
openalex   +1 more source

Refining Detection of Subclinical Epileptiform Activity in Alzheimer's Disease: A Case–Control Study and Call for a Consensus

Annals of Neurology, EarlyView.
Objective Sleep‐predominant network hyperexcitability is increasingly recognized as a potential disease‐accelerating comorbidity in Alzheimer's disease (AD). However, its prevalence and risk‐factors remain debated, largely due to cohort‐specific and methodological differences across studies.
Anna B. Szabo, Jonathan Curot, Fleur Gérard, Florence Rulquin, Rachel Debs, Claire Georges, Marie Denuelle, Amel Bouloufa, Béatrice Lemesle, Patrice Péran, Claire Thalamas, Emmanuel J. Barbeau, Jérémie Pariente, Lionel Dahan, Luc Valton   +14 more
wiley   +1 more source

Myotonic dystrophy type 1 presenting with stroke-like episodes: a case report [PDF]

, 2013
BACKGROUND: It is well known that myotonic dystrophy type 1 (DM1) - Curschmann-Steinert disease - is associated with white matter lesions in the brain. Further, DM1 patients may suffer from cardiac involvement and cardioembolic strokes.
Jens D Rollnik, Olaf Lenz, Ute Heinz
core   +1 more source