Results 41 to 50 of about 120,211 (290)

Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs.
Dennis Yeow, Matthew Katz, Jonathan Rodgers, Mark Davis, Thomas Robertson, R. J. McKinlay Gardner, Pamela A. McCombe   +6 more
wiley   +1 more source

Dorsolateral Cervical Cord T2 Hyperintensity in KIF1C‐Related Disease (Spastic Paraplegia 58): Two Long‐Duration Cases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake, Masao Osaki, Takashi Matsukawa, Miho Osako, Chisen Takeuchi, Hiroyuki Ishiura, Jun Mitsui, Ryo Kurokawa, Harushi Mori, Yuji Takahashi, Jun Goto, Shoji Tsuji, Tatsushi Toda   +12 more
wiley   +1 more source

What Do Large Language Models Know About Materials?

Advanced Engineering Materials, EarlyView.
If large language models (LLMs) are to be used inside the material discovery and engineering process, they must be benchmarked for the accurateness of intrinsic material knowledge. The current work introduces 1) a reasoning process through the processing–structure–property–performance chain and 2) a tool for benchmarking knowledge of LLMs concerning ...
Adrian Ehrenhofer, Thomas Wallmersperger, Gianaurelio Cuniberti   +2 more
wiley   +1 more source

Lipid Nanoparticles for the Delivery of CRISPR/Cas9 Machinery to Enable Site‐Specific Integration of CFTR and Mutation‐Agnostic Disease Rescue

Advanced Functional Materials, EarlyView.
Lipid nanoparticles (LNPs) are optimized to co‐deliver Cas9‐encoding messenger RNA (mRNA), a single guide RNA (sgRNA) targeting the endogenous cystic fibrosis transmembrane conductance regulator (CFTR) gene, and homologous linear double‐stranded donor DNA (ldsDNA) templates encoding CFTR.
Ruth A. Foley, Paul G. Ayoub, Vrishti Sinha, Colin Juett, Alicia Sanoyca, Emily C. Duggan, Lindsay E. Lathrop, Priyanka Bhatt, Kevin Coote, Beate Illek, Brigitte N. Gomperts, Donald B. Kohn, Steven J. Jonas   +12 more
wiley   +1 more source

Nonsense of the existence and the 'sense' of the absurdity: Congenialities of Albert Camus' and Petar Sarić's creative proceeds [PDF]

Baština, 2013
The philosophy of existentialism achieved its greatest impact through Sartre's lectures Existentialism is Humanity. His philosophy, founded on the thesis on the tragic throw in the whirlpool of the existence, had great impact on the literary achievements
Jeftimijević-Mihajlović Marija
doaj  

Characterization of Microplastics in Human Gastric Cancer and Control Tissues and Analysis of Associated Genetic Features

Advanced Healthcare Materials, EarlyView.
This study characterizes the presence of microplastics in human normal gastric, para‐tumor, and gastric tumor tissue and confirms the association between microplastic exposure and lymph node metastasis in gastric cancer. This study explores the transcriptomic changes induced by microplastic exposure, laying the foundation for further investigation into
Liqiao Chen, Jialin Li, Yan Wu, Han Bao, Xuesong Yang, Guoqing Lv, Ke Ji, Ji Zhang, Xiaojiang Wu, Kai Zhou, Jieli Xu, Jiatian Tang, Xiyuan Han, Anqiang Wang   +13 more
wiley   +1 more source

Characterization and Prognostic Value of Mutations in Exons 5 and 6 of the p53 Gene in Patients with Colorectal Cancers in Central Iran

Gut and Liver, 2013
Background/AimsWe aimed to investigate the relation-ships among various mutations of the p53 gene and their protein products, histological characteristics, and disease prognosis of primary colorectal cancer in Isfahan, central Iran.Methods : Sixty-one ...
doaj   +1 more source

Auto‐Routing Fluidic Printed Circuit Boards

Advanced Robotics Research, EarlyView.
This work introduces (STREAM) software tool for routing efficiently advanced macrofluidics, an open‐source software tool for automating the design of 3D‐printable fluidic circuit boards. STREAM streamlines tube routing and layout, enabling the rapid fabrication of fluidic networks for soft robotics, lab‐on‐a‐chip devices, microfluidics, and biohybrid ...
Savita V. Kendre, Lehong Wang, Haotian Liu, Markus P. Nemitz   +3 more
wiley   +1 more source

The Future of Research in Cognitive Robotics: Foundation Models or Developmental Cognitive Models?

Advanced Robotics Research, EarlyView.
Research in cognitive robotics founded on principles of developmental psychology and enactive cognitive science would yield what we seek in autonomous robots: the ability to perceive its environment, learn from experience, anticipate the outcome of events, act to pursue goals, and adapt to changing circumstances without resorting to training with ...
David Vernon
wiley   +1 more source

Blah, Blah, Blah: Making Sense of Nonsense in Irish Vocal Music

Musical Offerings, 2014
This paper seeks to provide a foundation for understanding lilting, a traditional type of vocal music found in Ireland that involves improvising non-lexical vocables to dance tunes, in order to help preserve this genre in its traditional form as well as ...
Catherine E. Mullins
doaj   +1 more source