Results 121 to 130 of about 31,068,671 (246)

Generalized Dystonia With Cervical Predominance in a Patient With a De Novo TCF20 Variant

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT TCF20 has been implicated in developmental delay and intellectual disability, with dystonia reported less frequently. We describe a woman in her early twenties with childhood‐onset learning difficulties, progressive dysarthria, tremor, and generalized dystonia with marked cervical predominance, associated with a de novo TCF20 frameshift ...
Melisa Kilic, Petr Dusek, Ibrahim Kamaci, Bahar Gulmez, Gul Yalcin Cakmakli, Ersin Tan, Sibel Ugur Iseri, Zuhal Yapici   +7 more
wiley   +1 more source

A Programming System for End-user Functional Programming [PDF]

This research involves the construction of a programming system, HASKEU, to support end-user programming in a purely functional programming language.
Alam, Abu S
core  

Examining Computer-Science Students' Metacognitive Beliefs and Reported Practices in Verifying AI-Generated Code: A Concurrent Mixed-Methods Study. [PDF]

J Intell
Li S, Tang J, Qiang Z, Wang Z.
europepmc   +1 more source

Dysregulated Cholesterol Metabolism, Chronic Inflammation, and Disability in Severe Progressive Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Dysregulated lipid metabolism, which can affect remyelination and neural repair, has not been extensively investigated in progressive multiple sclerosis (PMS). The goal was to examine whether dysregulated cholesterol metabolism was associated with disability in PMS. Methods The study sample comprised 53 Severe PMS patients (Expanded
Taylor R. Wicks, Mujeeb Shittu, Anna Wolska, Diala Ghazal, Bianca Weinstock‐Guttman, Alexander Burnham, Alan T. Remaley, Robert Zivadinov, Murali Ramanathan   +8 more
wiley   +1 more source

Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez, Amy Tam, Siofra Carty, Monica Ferrer Socorro, Kathryn Yang, Darius Ebrahimi‐Fakhari   +5 more
wiley   +1 more source

Large-scale semidefinite programming with graphics processing units. [PDF]

Proc Natl Acad Sci U S A
Han Q, Lin Z, Liu H, Chen C, Deng Q, Ge D, Ye Y.   +6 more
europepmc   +1 more source

Applied computer science. Practical exercises for learning to program in the C language

This manual offers a practical approach to learning the C programming language through applied exercises. It emphasizes the fundamental process of acquiring programming skills by actively coding, compiling, debugging, and improving simple programs. Structured in progressive stages, it covers essential theoretical concepts, starting from basic computer ...
openaire   +2 more sources

Myostatin/Smad3 in Spinal Muscular Atrophy: Biomarkers of Disease Severity and Treatment Response

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Given the role of Myostatin (MSTN) in muscle homeostasis and its modulation by current spinal muscular atrophy (SMA) therapies, we investigated serum MSTN and, for the first time, its downstream effector Smad3 as candidate non‐invasive biomarkers in SMA patients undergoing disease‐modifying therapies (DMTs).
Giorgia Riolo, Claudia Dosi, Stefano Parravicini, Riccardo Zanin, Marta Cheli, Eleonora Giacopuzzi Grigoli, Amalia Canciello, Francesca Andreetta, Riccardo Masson, Silvia Bonanno, Stefania Marcuzzo, Lorenzo Maggi   +11 more
wiley   +1 more source

Improving the Diagnostic Accuracy of Plasma Alzheimer's Disease Biomarkers With Objective and Subjective Cognitive Screening

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Blood‐based biomarkers are increasingly used to identify Alzheimer's disease (AD) pathology and may play an important role in early disease screening and participant selection for clinical trials. However, their performance across stages of cognitive impairment remains unclear. This study examined whether plasma biomarkers differ in
Maryam Abdolmaleki, Leslie S. Gaynor, Dandan Liu, Timothy J. Hohman, Katherine A. Gifford, Henrik Zetterberg, Angela L. Jefferson, Corey J. Bolton   +7 more
wiley   +1 more source

Teaching computational toxicology as new approach methodologies in the era of next-generation risk assessment. [PDF]

Front Toxicol
Liu S, Li J, Tang D, Shao K, Xue Q, Carmichael PL, Pi J, Zhang Q.   +7 more
europepmc   +1 more source