Results 211 to 220 of about 6,254,795 (351)

Phenotypic continuum of NFU1‐related disorders

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 2025-2035, December 2022., 2022
Abstract Bi‐allelic variants in Iron–Sulfur Cluster Scaffold (NFU1) have previously been associated with multiple mitochondrial dysfunctions syndrome 1 (MMDS1) characterized by early‐onset rapidly fatal leukoencephalopathy. We report 19 affected individuals from 10 independent families with ultra‐rare bi‐allelic NFU1 missense variants associated with a
Rauan Kaiyrzhanov, Maha S. Zaki, Tracy Lau, Sambuddha Sen, Reza Azizimalamiri, Mina Zamani, Gözde Yeşil Sayin, Taru Hilander, Stephanie Efthymiou, Viorica Chelban, Ruth Brown, Kyle Thompson, Maria Irene Scarano, Jaya Ganesh, Kairgali Koneev, Ismail Musab Gülaçar, Richard Person, Dinara Sadykova, Yerdan Maidyrov, Tahereh Seifi, Aizhan Zadagali, Geneviève Bernard, Katrina Allis, Houda Zghal Elloumi, Amanda Lindy, Ehsan Taghiabadi, Sumit Verma, Rachel Logan, Brian Kirmse, Renkui Bai, Shaimaa M. Khalaf, Mohamed S. Abdel‐Hamid, Alireza Sedaghat, Gholamreza Shariati, Mahmoud Issa, Jawaher Zeighami, Hasnaa M. Elbendary, Garry Brown, Robert W. Taylor, Hamid Galehdari, Joseph J. Gleeson, Christopher J. Carroll, James A. Cowan, Andres Moreno‐De‐Luca, Henry Houlden, Reza Maroofian   +45 more
wiley   +1 more source

Experimental evaluation of certification trails using abstract data type validation [PDF]

, 2003
D.S. Wilson, Gregory F. Sullivan, Gerald M. Masson   +2 more
openalex   +1 more source

Effects of cardiac motion on dose distribution during stereotactic arrhythmia radioablation treatment: A simulation and phantom study

Journal of Applied Clinical Medical Physics, EarlyView.
Abstract Purpose Cardiac motion may degrade dose distribution during stereotactic arrhythmia radioablation using the CyberKnife system, a robotic radiosurgery system. This study evaluated the dose distribution changes using a self‐made cardiac dynamic platform that mimics cardiac motion. Methods The cardiac dynamic platform was operated with amplitudes
Takayuki Miyachi, Takeshi Kamomae, Fumitaka Kawabata, Kuniyasu Okudaira, Mariko Kawamura, Shunichi Ishihara, Shinji Naganawa   +6 more
wiley   +1 more source

A potential biomarker of cognitive impairment: The olfactory dysfunction and its genes expression

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1884-1897, December 2022., 2022
Abstract Objective Accumulation evidence has reported that olfactory impairment may be an essential clinical marker and predictor of mild cognitive impairment or Alzheimer's disease. Method Participants were enrolled in the population‐based, prospective study in Fuxin county, Liaoning province, China between 2019 and 2021.
Jiayi Song, Jiahui Xu, Wei Yuan, Ruixue Li, Hui Guo, Hanshu Gao, Cuiying Gu, Wenjing Feng, Yanan Ma, Haiqiang Guo, Zhaoqing Sun, Liqiang Zheng   +11 more
wiley   +1 more source

Analysis and synthesis of abstract data types through generalization from examples [PDF]

, 2003
C. Wild
openalex   +1 more source

Association of red and processed meat consumption with cancer incidence and mortality: An umbrella review protocol. [PDF]

PLoS One
Li Y, Yang S, Yu C, Wu M, Huang S, Diao Y, Wu X, Yang H, Ma Z.   +8 more
europepmc   +1 more source

From 2D to 3D gamma passing rate tolerance and action limits for patient‐specific quality assurance in volumetric‐modulated arc therapy

Journal of Applied Clinical Medical Physics, EarlyView.
Abstract Background Volumetric modulated arc therapy (VMAT) requires an accurate patient‐specific quality assurance (PSQA) program. In clinical practice, this is usually performed using the γ‐index and the two‐dimensional gamma passing rate (2D %GP). A three‐dimensional (3D) index incorporating the patient anatomy could be more useful for the 3D dose ...
Christos Zarros, George Patatoukas, Nikos Kollaros, Marina Chalkia, Andromachi Kougioumtzopoulou, Vasilios Kouloulias, Kalliopi Platoni   +6 more
wiley   +1 more source

Clinical utility of cerebrospinal fluid biomarkers measured by LUMIPULSE® system

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1898-1909, December 2022., 2022
Abstract Objectives Cerebrospinal fluid (CSF) biomarkers of Alzheimer's disease (AD) are well‐established in research settings, but their use in routine clinical practice remains a largely unexploited potential. Here, we examined the relationship between CSF biomarkers, measured by a fully automated immunoassay platform, and brain β‐amyloid (Aβ ...
Hisashi Nojima, Satoshi Ito, Akira Kushida, Aki Abe, Wataru Motsuchi, David Verbel, Manu Vandijck, Geert Jannes, Ina Vandenbroucke, Katsumi Aoyagi   +9 more
wiley   +1 more source

An abstract model of three-dimensional spatial data types [PDF]

, 2004
Markus Schneider, Brian E. Weinrich
openalex   +1 more source

Efficacy of acupuncture in treating chemotherapy-related cognitive impairment in breast cancer patients: A systematic review and meta-analysis protocol. [PDF]

PLoS One
Liu L, Meng Z, Yan J.
europepmc   +1 more source