Results 71 to 80 of about 371,135 (330)

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large‐Scale Exome Sequencing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%), the etiology in most patients remains elusive. Moreover, understanding correlations between clinical manifestations and genetic variants has become increasingly ...
Mirja Thomsen, Fabian Ott, Sebastian Loens, Gamze Kilic‐Berkmen, Ai Huey Tan, Shen‐Yang Lim, Ebba Lohmann, Kaja M. Schröder, Lea Ipsen, Lena A. Nothacker, Linn Welzel, Alexandra S. Rudnik, Frauke Hinrichs, Thorsten Odorfer, Kirsten E. Zeuner, Friederike Schumann, Andrea A. Kühn, Simone Zittel, Marius Moeller, Robert Pfister, Christoph Kamm, Anthony E. Lang, Yi Wen Tay, Ana Luísa de Almeida Marcelino, Marie Vidailhet, Emmanuel Roze, Joel S. Perlmutter, Jeanne S. Feuerstein, Victor S. C. Fung, Florence Chang, Richard L. Barbano, Steven Bellows, Aparna A. Wagle Shukla, Alberto J. Espay, Mark S. LeDoux, Brian D. Berman, Stephen Reich, Andres Deik, Andre Franke, Michael Wittig, Sören Franzenburg, Jens Volkmann, Norbert Brüggemann, H. A. Jinnah, Tobias Bäumer, Christine Klein, Hauke Busch, Katja Lohmann   +47 more
wiley   +1 more source

Relationship Between Science and Religion in Wittgenstein’s Collection of Nonsense

Religions
Ludwig Wittgenstein kept a box file titled “Nonsense Collection” that is now archived in the Research Institute Brenner-Archiv. Several items in this collection concern both science and religion (or spiritualism).
Joseph Wang-Kathrein
doaj   +1 more source

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review

Frontiers in Neurology, 2022
BackgroundHomozygous or compound heterozygous mutations in the high-temperature requirement A serine protease 1 gene (HTRA1) elicits cerebral autosomal recessive arteriopathy with subcortical infarcts and white matter lesions (CARASIL).
Weijie Chen, Yuanyuan Wang, Shengwen Huang, Xiaoli Yang, Liwei Shen, Danhong Wu   +5 more
doaj   +1 more source

Quantum-Bayesian Coherence: The No-Nonsense Version

, 2013
In the Quantum-Bayesian interpretation of quantum theory (or QBism), the Born Rule cannot be interpreted as a rule for setting measurement-outcome probabilities from an objective quantum state. But if not, what is the role of the rule?
Fuchs, Christopher A., Schack, Ruediger
core   +1 more source

Molecular Screening of SCN1A‐Related Seizures in Children With Febrile Seizures: Diagnostic Yield and Variant Distribution

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SCN1A‐related seizures first present as febrile seizures (FS). Definitive features emerge later, making early diagnosis challenging. We evaluated the diagnostic yield and clinical characteristics of pathogenic SCN1A variants in FS, and analyzed the effect of variant characteristics on clinical phenotypes required for early ...
Jia Wang, Yang‐Yang Wang, Lin‐Yan Hu, Xiu‐Yu Shi, Wen He, Dan Sun, Baoguang Li, Xiaoming Liu, Sanqing Xu, Lijun Du, Chunhui Tang, Li‐Ping Zou   +11 more
wiley   +1 more source

Lexical and sub-lexical knowledge influences the encoding, storage, and articulation of nonwords [PDF]

, 2011
Nonword repetition (NWR) has been used extensively in the study of child language. Although lexical and sub-lexical knowledge is known to influence NWR performance, there has been little examination of the NWR processes (e.g., encoding, storage ...
Jones, G, Witherstone, HL
core   +1 more source

Magnetic‐Driven Torque‐Induced Electrical Stimulation for Millisecond‐Scale Wireless Neuromodulation

Advanced Healthcare Materials, EarlyView.
MagTIES is a wireless neuromodulation technique with millisecond precision. It employs magnetic‐driven torque from magnetite nanodiscs to activate piezoelectric nanoparticles, enabling precise temporal control of neuronal activity and brain oscillations using weak, low‐frequency magnetic fields.
Chao‐Chun Cheng, Li‐Ling Chen, Guan‐Jhong Tseng, Jun‐Xuan Huang, Yen‐Jing Ting, Po‐Han Chiang   +5 more
wiley   +1 more source

On the Austere Conception of Nonsense [PDF]

, 2002
The Tractatus is a book that presents a dilemma to its reader. The dilemma can be described briefly in the following manner: what is written in the Tractatus will appear possible to understand to a careful reader. But at the end of the book, in 6.54, the
Bengtsson, Gisela
core  

Early LQT2 Nonsense Mutation Generates N-Terminally Truncated hERG Channels with Altered Gating Properties by the Reinitiation of Translation

, 2012
Mutations in the human ether-a-go-go-related gene (hERG) result in long QT syndrome type 2 (LQT2). The hERG gene encodes a K+ channel that contributes to the repolarization of the cardiac action potential.
Gong, Qiuming, Packer, Jonathan D., Stump, Matthew R., Zhou, Zhengfeng   +3 more
core   +1 more source

Exploring AAV‐Mediated Gene Therapy for Inner Ear Diseases: from Preclinical Success to Clinical Potential

Advanced Science, EarlyView.
Current preclinical studies of AAV‐mediated gene therapy explore different strategies based on the characteristics of inner ear diseases. For genetic hearing loss, approaches include the replacement of a “good gene,” removal of a “bad gene,” or direct correction of mutations through base editing.
Fan Wu, Wuhui He, Yun Xiao, Qiong Wu, Qing Zhang, Tiesong Zhang, Lei Xu, Xinyi Pang   +7 more
wiley   +1 more source