Results 201 to 210 of about 410,090 (251)

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

Modeling arbitrarily applicable relational responding with the non-axiomatic reasoning system: a Machine Psychology approach. [PDF]

Front Robot AI
Johansson R.
europepmc   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Agile human activity recognition for wearable devices based on online incremental learning. [PDF]

Front Public Health
Fan L, Peng H, Xiao L, Shi L, Zhou S, Song Y, Fan H.   +6 more
europepmc   +1 more source

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone, Freddy Chafota, Miguel E. Rentería, Randi J. Hagerman, Ellery Santos, Anna Atkinson, Nicholas G. Martin, Elsdon Storey, Danuta Z. Loesch   +8 more
wiley   +1 more source

Information-Theoretic Intrinsic Motivation for Reinforcement Learning in Combinatorial Routing. [PDF]

Entropy (Basel)
Xi R, Ni Y, Wu W.
europepmc   +1 more source

Khovanov Laplacian and Khovanov Dirac for knots and links. [PDF]

J Phys Complex
Jones B, Wei GW.
europepmc   +1 more source

On Gray Images of Cyclic and Self-Orthogonal Codes over Fq+uFq+vFq. [PDF]

Entropy (Basel)
Saif SH, Alhomaidhi AA.
europepmc   +1 more source

Combinatorial Regression for Analytical Chemistry. [PDF]

Int J Anal Chem
Andersen JET.
europepmc   +1 more source

CAML: Commutative Algebra Machine Learning─A Case Study on Protein-Ligand Binding Affinity Prediction. [PDF]

J Chem Inf Model
Feng H, Suwayyid F, Zia M, Wee J, Hozumi Y, Chen CL, Wei GW, Wei GW.   +7 more
europepmc   +1 more source