Results 31 to 40 of about 220,984 (248)

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +1 more source

Chromosome-level assembly and evolution analysis of the Trichosanthes truncata genome

Scientific Data
Trichosanthes truncata C. B. Clarke, an important medicinal plant, is a dioecious plant belonging to the Cucurbitaceae family. This study presents a chromosomal-level reference genome assembly for T. truncata.
Ying Hu, Xiaomei Wei, Zhuannan Chu, Fan Wei, Yude Peng, Baoyou Huang, Ling Dong, Kunhua Wei, Weiwen Li   +8 more
doaj   +1 more source

Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron, Nicholas E. Clifton, Daniel Cabezas de la Fuente, Peter Holmans, Nicholas J. Bray, Kathryn J. Peall   +5 more
wiley   +1 more source

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

Comprehensive analysis of the NAC transcription factor gene family in Sophora tonkinensis Gagnep

BMC Plant Biology
Background Sophora tonkinensis Gagnep. has long been utilized in the treatment of anti-inflammatory and pain-relieving, with its principal active compounds being alkaloids and flavonoids.
Ximei Liang, Shuangshuang Qin, Guili Wei, Xiaoyun Guo, Shugen Wei, Fan Wei, Ying Liang   +6 more
doaj   +1 more source

Discovery of anti-SARS-CoV-2 agents from commercially available flavor via docking screening

Medicinal Plant Biology, 2023
Flavor and spice are largely consumed in food, cosmetics, and pharmaceutical industries. A novel coronavirus, recently named the Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2), was first identified in humans in Wuhan, China in 2019.
Jiaojiao Zhang, Xin Shen, Yanpeng Li, Yongming Yan, Yan Wang, Yongxian Cheng   +5 more
doaj   +1 more source

Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda, Hyo‐Min Kim, Nicole Battaglia, Joshua Rong, Amy Tam, Enrique Gonzalez Saez‐Diez, Cornelius F. Boerkoel, Afshin Saffari, Vicente Quiroz, Luca Schierbaum, Zainab Zaman, Katerina Bernardi, Darius Ebrahimi‐Fakhari   +12 more
wiley   +1 more source

Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adrenoleukodystrophy is a rare inherited peroxisomal disease caused by pathogenic variants in the ABCD1 gene located on the X chromosome. Although the most severe central nervous system and adrenal complications typically affect only men with adrenoleukodystrophy, the majority of women develop myeloneuropathy symptoms in adulthood.
Chenwei Yan, Elizabeth I. Pierpont, Amena S. Fine, Reena V. Kartha   +3 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

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