Results 11 to 20 of about 363,392 (196)

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

The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1941-1952, December 2022., 2022
Abstract Objective The objectives of this study were to define the clinical and biochemical spectrum of spinal muscular atrophy with progressive myoclonic epilepsy (SMA‐PME) and to determine if aberrant cellular ceramide accumulation could be normalized by enzyme replacement.
Michelle M. Lee, Graeme S. V. McDowell, Darryl C. De Vivo, Daniel Friedman, Samuel F. Berkovic, Maria Spanou, Argirios Dinopoulos, Katheryn Grand, Pedro A. Sanchez‐Lara, Michelle Allen‐Sharpley, Jodi Warman‐Chardon, Alexander Solyom, Thierry Levade, Edward H. Schuchman, Steffany A. L. Bennett, David A. Dyment, Toni S. Pearson   +16 more
wiley   +1 more source

COMPARISON OF LANGUAGE SUBSET AND LANGUAGE EXTENSION BY SAFE RELATED INFORMATION APPROACH TO SAFE SYSTEM DEVELOPMENT

Acta Polytechnica CTU Proceedings, 2017
Presented contribution is dedicated to discussion of two different approaches into increase of programming language safety. They are language subset and extension of original safety mechanisms.
Tomáš Brandejský, Vít Fábera
doaj   +1 more source

Large Scale Implementations for Twitter Sentiment Classification

Algorithms, 2017
Sentiment Analysis on Twitter Data is indeed a challenging problem due to the nature, diversity and volume of the data. People tend to express their feelings freely, which makes Twitter an ideal source for accumulating a vast amount of opinions towards a
Andreas Kanavos, Nikolaos Nodarakis, Spyros Sioutas, Athanasios Tsakalidis, Dimitrios Tsolis, Giannis Tzimas   +5 more
doaj   +1 more source

SWRL Parallel Reasoning Implementation with Spark SQL

IOP Conference Series: Materials Science and Engineering, 2020
With the rapid development of semantic Web and big data technology, ontology data has the characteristics of large-scale, high-speed growth and diversity which big data has.
Wan Li, Huaai Kang, Dongbo Ma, Weiwei Wei   +3 more
semanticscholar   +1 more source

SparkR: Scaling R Programs with Spark

SIGMOD Conference, 2016
R is a popular statistical programming language with a number of extensions that support data processing and machine learning tasks. However, interactive data analysis in R is usually limited as the R runtime is single threaded and can only process data ...
S. Venkataraman, Zongheng Yang, Davies Liu, Eric Liang, Hossein Falaki, Xiangrui Meng, Reynold Xin, A. Ghodsi, M. Franklin, Ion Stoica, M. Zaharia   +10 more
semanticscholar   +1 more source

Spark: The First Choice for Novices

Informatics in Education
Spark, one of the products offered by MyQ (formerly Plethora), is a game-based platform meticulously designed to introduce students to the foundational concepts of computer science.
Judith Gal-Ezer, Smadar Szekely
doaj   +1 more source

SPARK: the libre language and toolset for high-assurance software engineering

SIGAda Conference, 2009
Level -Intermediate SPARK is an annotated sub-language of Ada which is unambiguous and suitable for rigorous static analysis. It has been extensively used in industrial applications where safety and security are paramount, such as miltary aerospace ...
Trevor Jennings
semanticscholar   +1 more source

MP-SPILDL: A Massively Parallel Inductive Logic Learner in Description Logic

IEEE Access
This article presents MP-SPILDL, a massively parallel inductive logic learner in Description Logic (DL). MP-SPILDL is a scalable inductive Logic Programming (ILP) algorithm that exploits existing Big Data infrastructure to perform large-scale inductive ...
Eyad Algahtani
doaj   +1 more source

Circulating tumor cells: advancing personalized therapy in small cell lung cancer patients

Molecular Oncology, EarlyView.
Small cell lung cancer (SCLC) is an aggressive form of lung cancer that spreads rapidly to secondary sites such as the brain and liver. Cancer cells circulating in the blood, “circulating tumor cells” (CTCs), have demonstrated prognostic value in SCLC, and evaluating biomarkers on CTCs could guide treatment decisions such as for PARP inhibitors ...
Prajwol Shrestha, Steven Kao, Veronica K. Cheung, Wendy A. Cooper, Nico van Zandwijk, John E. J. Rasko, Dannel Yeo   +6 more
wiley   +1 more source