Results 121 to 130 of about 928,606 (352)

Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron, Nicholas E. Clifton, Daniel Cabezas de la Fuente, Peter Holmans, Nicholas J. Bray, Kathryn J. Peall   +5 more
wiley   +1 more source

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

First-principles study of stability and electronic structural properties of Ag/Au/M (Cu, Ni) interface

Materials Research Express
This study investigated the interface energy, work of adhesion, and electronic structural properties at the Ag/Au/M(Cu,Ni) interface, employing the first-principles method based on density functional theory.
Jie-Qiong Hu, Chao Ma, Ming Xie, Ji-Heng Fang, Yong-Tai Chen, You-Cai Yang, Qiao Zhang, Ya-Nan Bi   +7 more
doaj   +1 more source

Lowering operating temperatures in high-power laser-excited LuAG:Ce films by improving crystallinity and increasing Ce3+ content

Journal of Advanced Ceramics
High operating temperatures generally degrade the luminous performance of color converters used in high-power, laser-driven white lighting systems. This study demonstrated that the operating temperature of LuAG:Ce films can be significantly reduced ...
Huiying Hu, Bingguo Xue, Shaohong Liu, Limin Zhou, Hao Cui, Manmen Liu, Haigang Dong, Li Chen, Ming Wen, Feng Liu, Song Li, Liang Zuo   +11 more
doaj   +1 more source

Vestibular Patient Journey: Insights From Vestibular Disorders Association (VeDA) Registry

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Vestibular symptoms impose a high burden of disability. Understanding real‐world diagnostic and treatment pathways can identify care gaps and guide interventions. We aimed to characterize symptom profiles, diagnostic trends, provider involvement, and treatment patterns in vestibular disorders.
Ali Rafati, Sami I. Nassar, Shaun A. Nguyen, Patricia L. Gerend, Michael C. Schubert, Michael T. Teixido, Frederick A. Godley, Joel A. Goebel, Cynthia A. Ryan, Habib G. Rizk, Amir Kheradmand   +10 more
wiley   +1 more source

Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez, Monica Ferrer Socorro, Kathryn Yang, Nicole Battaglia, Zainab Zaman, Mariko Bennett, Adeline Vanderver, Pui Y. Lee, Lauren A. Henderson, Milena M. Andzelm, Darius Ebrahimi‐Fakhari   +10 more
wiley   +1 more source

Microstructure, mechanical and electrical properties of a novel low-cost high-strength Pt-xAu-5Ni alloy

Journal of Materials Research and Technology
The present study designed and prepared a novel platinum alloy system Pt-xAu-5Ni (x = 0, 2, 5, wt.%) with high strength and good electrical resistivity.
Li Fu, Hengfei Yu, Ke Zhang, Hualong Ge, Haijun Wu, Wenyan Zhou, Quan Fu, Kai Xiong, Lihua Ma, Shaoping Lu, Xuan Zhou, Yong Mao, Junjie He   +12 more
doaj   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Clitoral Epidermal Inclusion Cyst Following Type 2 Female Genital Mutilation

Plastic and Reconstructive Surgery, Global Open
Summary:. Epidermal inclusion cysts of the clitoris occur as a sequelae of female genital mutilation (FGM) due to implantation of epidermal components into the dermis.
Abdullahi Adan, FPRS, MMED Surg, MBCHB, Najma Jelle, MBCHB   +1 more
doaj   +1 more source

Platinum nephrotoxicity [PDF]

Cancer, 1974
W T, Hardaker, R A, Stone, R, McCoy
openaire   +2 more sources