Results 61 to 70 of about 869,931 (335)

Persistent Leukoencephalopathy Following H1N1 Infection Associated With a Novel MYRF Variant (p.Gly735Asp)

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Mutations in myelin regulatory factor (MYRF) are linked to demyelinating disorders. We report a 38‐year‐old male who developed acute symmetric leukoencephalopathy mimicking a stroke following an influenza A virus infection. While clinical symptoms markedly improved with corticosteroids, MRI revealed persistent white matter lesions, contrasting
Jinghan Hu, Leiyun Huang, Wan Zhu, Min Peng, Qiang Gong, Jing Qian   +5 more
wiley   +1 more source

Acoustic Measures Capture Speech Dysfunction in Spinocerebellar Ataxia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxias (SCA) are hereditary cerebellar degenerative disorders with a common feature of dysarthria, involving impaired phonatory and articulatory control of speech, thereby affecting social communication. In this study, we investigated whether acoustic measures could objectively measure speech dysfunction and identify
Zena Fadel, Charlotte Hennessey, Hannah Lee, Pia Parekh, Sheng‐Han Kuo, Ami Kumar   +5 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

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

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

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

HOW GOVERNMENTS RESPOND TO BUSINESS DEMANDS FOR TAX CUTS: AN ANALYSIS OF CORPORATE AND INHERITANCE TAX REFORMS IN AUSTRIA AND SWEDEN. CES Open Forum Series 2018-2019 [PDF]

, 2019
This paper analyses government responsiveness to business demands for tax cuts, using case studies of reforms of corporate taxes and inheritance taxes in Austria and Sweden.
Klitgaard, Michael Baggesen, Paster, Thomas   +1 more
core  

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

New mutations at the imprinted Gnas cluster show gene dosage effects of Gsα in postnatal growth and implicate XLαs in bone and fat metabolism, but not in suckling [PDF]

, 2012
The imprinted Gnas cluster is involved in obesity, energy metabolism, feeding behavior, and viability. Relative contribution of paternally expressed proteins XLαs, XLN1, and ALEX or a double dose of maternally expressed Gsα to phenotype has not been ...
Abramowitz J, Balthasar N, Bamshad M, Bartness TJ, Bastepe M, Bastepe M, Baxendale RW, Bunting M, Castrop H, Cattanach BM, Cattanach BM, Chen M, Chen M, Chen M, Chotalia M, Crawford JA, de Bovis B, de Paula FJ, Ducy P, Elefteriou F, Friedman JM, Fu L, Fukao M, Germain-Lee EL, Hayward BE, Holmes R, Ivanova E, Kawai M, Kaya AI, Kehlenbach RH, Kelly ML, Kelsey G, Klemke M, Klemke M, Kublaoui BM, Lam DD, Liu J, Maffei M, Moore T, Oswal A, Pasolli HA, Pasolli HA, Peters J, Peters J, Peters J, Plagge A, Plagge A, Sakamoto A, Sakamoto A, Schmidt-Nielsen K, Shin JY, Shrestha YB, Skinner JA, Sleutels F, Storck T, Weinstein LS, Weinstein LS, Williamson CM, Williamson CM, Williamson CM, Wroe SF, Xie T, Yadav VK, Youngstrom TG, Yu S, Yu S   +65 more
core   +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