Results 251 to 260 of about 8,796 (305)

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

Parity Property of Hexagonal Sliding Puzzles. [PDF]

Mathematica (N Y)
Estévez M, Karpman R, Roldán É.
europepmc   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Chaos controlled and disorder driven phase transitions induced by breaking permutation symmetry. [PDF]

Sci Rep
C M, Lakshminarayan A, Divakaran U.
europepmc   +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

Asymptotic theory of in-context learning by linear attention. [PDF]

Proc Natl Acad Sci U S A
Lu YM, Letey M, Zavatone-Veth JA, Maiti A, Pehlevan C.   +4 more
europepmc   +1 more source

Beyond tame solutions: a new paradigm for injury prevention in sports. [PDF]

BMJ Open Sport Exerc Med
Verhagen E, McGinley P, McKay CD.
europepmc   +1 more source

Indo-US Emergency and Trauma Collaborative Clinico-pathologic Case Competitions Celebrate 20 Years of Competitive Educational Learning Experience.

J Emerg Trauma Shock
Aggarwal P, Galwankar S, Sardesai I, Soghoian S, Wiener SW.   +4 more
europepmc   +1 more source

High-Frequency Skywave Source Geolocation Using Deep Learning-Based TDOA Estimation and Bias-Regularized Semidefinite Programming with Field Evaluation. [PDF]

Sensors (Basel)
Xu C, Ai H, He L, Hu C, Chen S, Li Z, Liu X.   +6 more
europepmc   +1 more source