Results 21 to 30 of about 666,671 (148)

CSF proteomics in autosomal dominant Alzheimer’s disease highlights parallels with sporadic disease

open access: yesBrain : a journal of neurology, 2023
Autosomal dominant Alzheimer’s disease (ADAD) offers a unique opportunity to study pathophysiological changes in a relatively young population with few comorbidities.
E. L. van der Ende   +16 more
semanticscholar   +1 more source

An integrated map of genetic variation from 1,092 human genomes

open access: yesNature, 2012
By characterizing the geographic and functional spectrum of human genetic variation, the 1000 Genomes Project aims to build a resource to help to understand the genetic contribution to disease.
Gil A. David M. Richard M. Gonçalo R. David R. Aravind McVean Altshuler (Co-Chair) Durbin (Co-Chair) Abec   +499 more
semanticscholar   +1 more source

Spike propagation mapping reveals effective connectivity and predicts surgical outcome in epilepsy

open access: yesBrain : a journal of neurology, 2023
Neurosurgical intervention is the best available treatment for selected patients with drug resistant epilepsy. For these patients, surgical planning requires biomarkers that delineate the epileptogenic zone, the brain area that is indispensable for the ...
M. Matarrese   +10 more
semanticscholar   +1 more source

Test of lepton universality in beauty-quark decays [PDF]

open access: yesNature Physics, 2021
The standard model of particle physics currently provides our best description of fundamental particles and their interactions. The theory predicts that the different charged leptons, the electron, muon and tau, have identical electroweak interaction ...
L. C. R. Aaij   +499 more
semanticscholar   +1 more source

Topological cell clustering in the ATLAS calorimeters and its performance in LHC Run 1 [PDF]

open access: yesEuropean Physical Journal C: Particles and Fields, 2016
The reconstruction of the signal from hadrons and jets emerging from the proton–proton collisions at the Large Hadron Collider (LHC) and entering the ATLAS calorimeters is based on a three-dimensional topological clustering of individual calorimeter cell
G. Aad   +499 more
semanticscholar   +1 more source

Planck 2013 results. XVI. Cosmological parameters [PDF]

open access: yes, 2013
This paper presents the first cosmological results based on Planck measurements of the cosmic microwave background (CMB) temperature and lensing-potential power spectra. We find that the Planck spectra at high multipoles (l greater than or similar to 40)
P. Ade   +263 more
semanticscholar   +1 more source

Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)

open access: yesAmerican Journal of Medical Genetics. Part A
Myhre syndrome is an increasingly diagnosed ultrarare condition caused by recurrent germline autosomal dominant de novo variants in SMAD4. Detailed multispecialty evaluations performed at the Massachusetts General Hospital (MGH) Myhre Syndrome Clinic ...
Angela E. Lin   +38 more
semanticscholar   +1 more source

Planck2015 results

open access: yesAstronomy & Astrophysics, 2016
This paper describes the mapmaking procedure applied to Planck Low Frequency Instrument (LFI) data. The mapmaking step takes as input the calibrated timelines and pointing information.
P. Ade   +258 more
semanticscholar   +1 more source

IceCube-Gen2: the window to the extreme Universe [PDF]

open access: yesJournal of Physics G: Nuclear and Particle Physics, 2020
The observation of electromagnetic radiation from radio to $\gamma$-ray wavelengths has provided a wealth of information about the universe. However, at PeV (10$^{15}$ eV) energies and above, most of the universe is impenetrable to photons.
T. I. C. M. G. Aartsen   +432 more
semanticscholar   +1 more source

Dopamine and deep brain stimulation accelerate the neural dynamics of volitional action in Parkinson's disease

open access: yesBrain : a journal of neurology
The ability to initiate volitional action is fundamental to human behaviour. Loss of dopaminergic neurons in Parkinson's disease is associated with impaired action initiation, also termed akinesia.
R. Köhler   +17 more
semanticscholar   +1 more source

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