Results 131 to 140 of about 520,472 (308)

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang, Brian S. Gloss, Jessica P. Hayes, Andrew J. A. Holland, Manoj P. Menezes, Joceline A. Branson, Shekeeb S. Mohammad, Jingya J. Yan, Shrujna Patel, Velda X. Han, Russell C. Dale   +10 more
wiley   +1 more source

An Evaluation of Never-Dried Pulp at Multiple Freeness Levels [PDF]

, 1998
Recycled paper is a viable and economical source of useful wood fiber for paper manufacture. Two of the largest contributors to today\u27s paper waste stream are Mixed-Office Waste (Softwood Kraft Pulp) and Newsprint (Stone Groundwood Pulp).
Liverance, Timothy Clifford
core   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Utilization of recycled concrete aggregates mixed with fly ash as the road base materials in Vietnam

Journal of Materials and Engineering Structures
Recycling of construction and demolition waste (CDW) and industrial by-products presents substantial environmental, economic, and social benefits. In developed countries, recycling efforts have been actively promoted for decades, resulting in a high ...
Hong Nam THAI
doaj  

A Systematic Comparison of Alpha‐Synuclein Seed Amplification Assays for Increasing Reproducibility

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Seed amplification assays (SAAs) enable ultrasensitive detection of misfolded α‐synuclein across biofluids and tissues. Yet, heterogeneity in protocols limits cross‐study comparability and clinical translation. Here, we review α‐synuclein SAA methods and their performance across various biological matrices.
Manuela Amaral‐do‐Nascimento, Daniela F. Santos, Tuane C. R. G. Vieira, Tiago F. Outeiro   +3 more
wiley   +1 more source

Quantification of fines migration in block caving mining through laboratory experiments

Results in Engineering
The migration of fines in block caving mining corresponds to the movement of small-size granular material. This material is directed toward drawpoints, causing dilution of valuable mineral and safety concerns due to the formation of cohesive arcs ...
Michael Aravena, Sergio Palma, Francisco J. Vivanco-Avaria, Gonzalo Nelis   +3 more
doaj   +1 more source

Characterization of coal products from high temperature processing of Usibelli low-rank coals [PDF]

, 1991
This research project was conducted in association with Gilbert/Commonwealth Inc. as part of an overall techno-economic assessment of high temperature drying of low-rank coals. This report discusses the characteristics of the dried/pyrolyzed products of
Li, YuFu, Rao, P.D., Walsh, D.E., Wilson, W.   +3 more
core  

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, Marco Pitteri, Michael Foster, Sara Collorone, Sara Salama, Elisa Colato, Ferran Prados, Baris Kanber, Marios Yiannakas, Claudia A. M. Gandini Wheeler‐Kingshott, Indran Davagnanam, Frederik Barkhof, Declan Chard, Olga Ciccarelli, Ahmed Toosy   +14 more
wiley   +1 more source

Effect of Leaching of Ionic Rare Earth Ores on the Permeability Coefficient of Mineral Soil and Its Correlation with the State Parameter

Metals
The permeability of ionic rare is a crucial factor influencing the leaching rate of rare earth elements. In the Gannan region, many ionic rare earth ores exhibit poor permeability and high compressibility compared to sandy soils.
Run Xiang, Yunzhang Rao, Jiyong Zhang, Laiye Zhang, Zhihua Yang   +4 more
doaj   +1 more source