Results 51 to 60 of about 819,324 (310)

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Psychological evidence for assumptions of path-based inheritance reasoning [PDF]

, 1994
The psychological validity of inheritance reasoners is clarified. Elio and Pelletier (1993) presented the first pilot experiment exploring some of these issues.
Hewson, Claire, Vogel, Carl
core   +1 more source

Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxia type 3 (SCA3) is a genetically defined ataxia. The Scale for Assessment and Rating of Ataxia (SARA) is a clinician‐reported outcome that measures ataxia severity at a single time point. In its standard application, SARA fails to capture short‐term fluctuations, limiting its sensitivity in trials.
Marcus Grobe‐Einsler, Vivian Maas, Arian Taheri Amin, Jennifer Faber, Tamara Schaprian, Katharina Hill, Matthis Synofzik, Lisa H. Graf, Heike Jacobi, Manuela Lima, Ana F. Ferreira, Bart P. van de Warrenburg, Ilse H. J. Willemse, Dagmar Timmann, Andreas Thieme, Paola Giunti, Hector Garcia‐Moreno, Magda M. Santana, Jeannette Hübener‐Schmid, Elin H. Davies, Thomas Klockgether   +20 more
wiley   +1 more source

Genes involved in the regulation of alkaloid and flavonoid biosynthesis in different tissues of Sophora tonkinensis via transcriptomics and metabolomics

BMC Plant Biology
Background Sophora tonkinensis Gagnep is a significant Chinese herbal medicine, primarily composed of alkaloids and flavonoids, which are its key pharmacological components.
Ying Liang, Guili Wei, Ximei Liang, Meiqiong Tang, Hong He, Danfeng Tang, Yang Lin, Linxuan Li, Shuangshuang Qin, Fan Wei   +9 more
doaj   +1 more source

Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende, Emilien Petit, Young Woo Park, Sophie Tezenas du Montcel, James M. Joers, Jonathan M. DuBois, H. Moore Arnold, Michal Povazan, Ipek Özdemir, Guita Banan, Romain Valabregue, Philipp Ehses, Jennifer Faber, Chiadi U. Onyike, Peter B. Barker, Jeremy D. Schmahmann, Eva‐Maria Ratai, Sub H. Subramony, Thomas H. Mareci, Khalaf O. Bushara, Henry Paulson, Thomas Klockgether, Alexandra Durr, Tetsuo Ashizawa, Christophe Lenglet, Gülin Öz, READISCA Investigators   +26 more
wiley   +1 more source

Genome-wide analysis of the bHLH gene family in Spatholobus suberectus identifies SsbHLH112 as a regulator of flavonoid biosynthesis

BMC Plant Biology
Spatholobus suberectus Dunn (S. suberectus), a medicinal herb from the Leguminosae family, is widely utilized in traditional medicine. The dried stem of S.
Shuangshuang Qin, Ying Liang, Yueying Xie, Guili Wei, Quan Lin, Weiqi Qin, Fan Wei   +6 more
doaj   +1 more source

Synapses-associated research in Parkinson’s disease: an explored trends analysis

Frontiers in Aging Neuroscience
BackgroundThe pathological features of Parkinson’s disease (PD) include the formation of Lewy bodies composed mainly of aggregated alpha-synuclein (α-Syn) and extensive neurodegeneration.
Yan-Jun Chen, Yan-Jun Chen, Ming-Rong Xie, Sheng-Qiang Zhou, Fang Liu   +4 more
doaj   +1 more source

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Conventionality matters in Chinese metaphor but not simile comprehension: evidence from event-related potentials

Frontiers in Psychology
Metaphor and simile, two prevalent forms of figurative language widely employed in daily communication, serve as significant research subjects in linguistics. The Career of Metaphor Theory in cognitive linguistics posits that as conventionality increases,
Yan Yu, Yan Yu, Feng Gu, Feng Gu, Yongqing Li, Yongqing Li, Jianghua Han, Jianghua Han   +7 more
doaj   +1 more source