Results 61 to 70 of about 106,878 (284)

TBK1‐Associated Primary Lateral Sclerosis Followed by Right Temporal Variant Frontotemporal Dementia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We report a 58‐year‐old woman with a novel splice‐site variant in the TANK‐binding kinase 1 (TBK1:c.993–2A>C p.Ala332TyrfsTer39) who sequentially developed primary lateral sclerosis (PLS) followed by right temporal variant frontotemporal dementia (rtvFTD). Neuroimaging demonstrated right anterior temporal atrophy before cognitive symptoms, and
Tomoyasu Matsubara, Naoki Kihara, Satoko Miyatake, Koji Fujita, Konoka Tachibana, Ryosuke Miyamoto, Hiroki Yamazaki, Yusuke Osaki, Nazere Keyoumu, Yuki Kuwano, Nobutoshi Morimoto, Suzuran Saito, Eriko Koshimizu, Yoichi Otomi, Kenji Ishibashi, Masafumi Harada, Naomichi Matsumoto, Hiroyuki Morino, Yuishin Izumi   +18 more
wiley   +1 more source

SCET sum rules for Λ b → Λℓ + ℓ − , Λγ decays

Journal of High Energy Physics
We construct light-cone sum rules for various types of effective form factors in the Λ b → Λℓ + ℓ − and Λ b → Λγ decays by analyzing vacuum-to-Λ b (or γ *-to-Λ b ) correlation functions with the light Λ-baryon interpolating current.
Long-Shun Lu, Cai-Dian Lü, Yue-Long Shen, Yan-Bing Wei   +3 more
doaj   +1 more source

Rare B decays at LHCb [PDF]

, 2007
Rare loop-induced decays are sensitive to New Physics in many Standard Model extensions. In this paper we discuss the potential of the LHCb experiment to very rare $\mathrm{B_s} \to \mu^+ \mu^-$ decays, radiative penguin $\mathrm{b \to s}\gamma$ decays ...
Lenzi, Michela
core   +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

Summary of the CKM 2016 working group on rare decays [PDF]

, 2016
Rare $B$, $D$, and $K$ decays offer unique opportunities to probe for evidence of new particles from physics beyond the Standard Model at mass scales extending from the electroweak scale to well above those directly accessible at the LHC.
Ishikawa, Akimasa, Lunghi, Enrico, Moulson, Matthew, Serrano, Justine   +3 more
core   +3 more sources

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Real‐World Longitudinal Data on the Impact of Hydroxychloroquine Blood Level Monitoring on Lupus Outcomes: Results of a Prospective Longitudinal Cohort Study

Arthritis Care &Research, EarlyView.
Objective Hydroxychloroquine (HCQ) is a cornerstone therapy in systemic lupus erythematosus (SLE), but the weight‐based dosing does not account for clinical factors that can introduce individual variability in drug metabolism and clearance. We leveraged longitudinal data from a prospective SLE cohort to identify clinical factors that predict ...
Jay J. Patel, Fauzia Hollangel, Caroline Packee, Amita Kapoor, Brad Rovin, Nathalie Costedoat‐Chalumeau, Shivani Garg   +6 more
wiley   +1 more source

Nonleptonic B-meson decays to next-to-next-to-leading order

Journal of High Energy Physics
We compute next-to-next-to-leading order QCD corrections to the partonic processes b → c u ¯ d $$ c\overline{u}d $$ and b → c c ¯ s $$ c\overline{c}s $$ , which constitute the dominant decay channels in standard model predictions for B-meson lifetimes ...
Manuel Egner, Matteo Fael, Kay Schönwald, Matthias Steinhauser   +3 more
doaj   +1 more source

Rare decays

Nuclear Physics B - Proceedings Supplements, 1990
Recent theoretical and experimental progress on rare decays is summarized, principally for K and B mesons, as discussed in the parallel sessions of this workshop. 51 refs., 6 figs.
openaire   +1 more source

Revisiting Stability Criteria in Ball‐Milled High‐Entropy Alloys: Do Hume–Rothery and Thermodynamic Rules Equally Apply?

Advanced Engineering Materials, Volume 27, Issue 6, March 2025.
The stability criteria affecting the formation of high‐entropy alloys, particularly focusing in supersaturated solid solutions produced by mechanical alloying, are analyzed. Criteria based on Hume–Rothery rules are distinguished from those derived from thermodynamic relations. The formers are generally applicable to mechanically alloyed samples.
Javier S. Blázquez, Alejandro F. Manchón‐Gordón, Antonio Vidal‐Crespo, Rafael Caballero‐Flores, Jhon J. Ipus, Clara F. Conde   +5 more
wiley   +1 more source