Results 131 to 140 of about 922,631 (303)

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Chromatin establishes an immature version of neuronal protocadherin selection during the naive-to-primed conversion of pluripotent stem cells. [PDF]

, 2019
In the mammalian genome, the clustered protocadherin (cPCDH) locus provides a paradigm for stochastic gene expression with the potential to generate a unique cPCDH combination in every neuron.
Allegue, Catarina, Almenar-Queralt, Angels, Bohaciakova, Dasa, Chaves, Rodrigo S, Chen, Andrew G, Dittrich, Marcus, Driscoll, Shawn P, El Hajj, Nady, Fong, Lauren K, Garcia-Bassets, Ivan, Goldstein, Lawrence SB, Hruska-Plochan, Marian, Kim, Hong Sook, Kohlnhofer, Bridget, Ma, Qi, Mackintosh, Carlos, Marsala, Martin, Merkurjev, Daria, Navarro, Michael, Tadokoro, Takahiro, Woodruff, Grace, Young, Jessica E   +21 more
core  

Posterior Cortical Atrophy in the Asia‐Pacific: A Report From the PCA Asian Workgroup

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Posterior Cortical Atrophy (PCA) is a distinct dementia syndrome primarily affecting spatial abilities and visual processing. It is associated with degeneration in the posterior part of the brain. PCA is subclassified into PCA‐pure and PCA‐plus syndromes based on consensus criteria.
Yuttachai Likitjaroen, Ya‐Ting Chang, Levinia Lim, Pai‐Yi Chiu, Jung‐Lung Hsu, SangYun Kim, Wataru Narita, Na Young Ryoo, Kyoko Suzuki, Nagaendran Kandiah, Sebastian Crutch, Ming‐Chyi Pai   +11 more
wiley   +1 more source

In vivo distribution of cerebrospinal fluid tracer in human upper spinal cord and brain stem. [PDF]

JCI Insight, 2023
Melin E, Pripp AH, Eide PK, Ringstad G.
europepmc   +1 more source

Innate Immune Reprogramming Mediated by Endogenous Retroelement Dysregulation Drives Multiple Sclerosis Progression

Annals of Clinical and Translational Neurology, EarlyView.
Epigenetic reprogramming in hematopoietic stem and progenitor cells (HSPCs) and downstream myeloid cells, mediated by H3.3 downregulation and endogenous retroelement (ERE) overexpression, contributes to the progression of multiple sclerosis (MS). ABSTRACT Background Skewed myelopoiesis in the bone marrow has been identified as a key driver of multiple ...
Li‐Mei Xiao, Qiu‐Ping Zhao, Run‐Yun Li, Wei Chen, Huan‐Huan Song, Wan‐Jin Chen, Ying Fu   +6 more
wiley   +1 more source

Dural arteriovenous fistula with swelling of brainstem and cerebellum: one case report

Chinese Journal of Contemporary Neurology and Neurosurgery, 2020
DOI：10.3969/j.issn.1672⁃6731.2020.12 ...
Fa⁃xiu SHEN, Hong⁃fen ZHONG, Jian⁃gang DUAN   +2 more
doaj  

Case report: A case of neuro-Behçet's syndrome presenting as brain stem mass lesions. [PDF]

Front Neurol, 2023
Ayoade F, Hernandez S, Montreuil N, Drews-Elger K, Quiroz T, Sternberg CA.   +5 more
europepmc   +1 more source

Paramagnetic Rim Lesions Are Associated With Trans‐Synaptic Degeneration of the Visual Pathway in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Retrograde trans‐synaptic degeneration (rTSD) from posterior visual pathway lesions in multiple sclerosis (MS) is characterized by hemi‐macular ganglion cell‐inner plexiform layer (GCIPL) thinning and contralateral visual field loss.
Abdul Jaber Tayem, Angel Liu, Sargis Manukyan, Mustafa Subhi, Elaina Luskin, Bryan Quah, Sreekanth Madhusoodhanan Nair, Arzu C. Has Silemek, Gabriela Zabala, Yujie Cui, Laura Locke, Paula Barreras, Marwa Kaisey, Vinicius Calsavara, Daniel S. Reich, Nancy L. Sicotte, Pascal Sati, Omar Al‐Louzi   +17 more
wiley   +1 more source

Generation of Human Epidermis-Derived Mesenchymal Stem Cell-like Pluripotent Cells and their reprogramming in mouse chimeras [PDF]

, 2011
Stem cells can be derived from the embryo (embryonic stem cells, ESCs), from adult tissues (adult stem cells, ASCs), and by induction of fibroblasts (induced pluripotent stem cells, iPSs).
Bing Huang, Jian Ge, JianFa Huang, Jie Yu, KaiJing Li, LiPing Guan, LiPing Lin, Min Zhang, QianYing Gao, ShaoChun Lin, Ting Luo, WeiHua Li, WenCong Wang, WenXin Zhang, XiaoPing Xu, XiGu Chen, XinMing Song, XinTao Huang, YiChi Zhang, YongLiang Lin, YongPing Li, ZhiChong Wang   +21 more
core   +1 more source

Multiple Sclerosis Relapse Activity After Ozanimod Discontinuation in DAYBREAK Trial Participants

Annals of Clinical and Translational Neurology, EarlyView.
Multiple Sclerosis Relapse Activity After Ozanimod Discontinuation in DAYBREAK Trial Participants. ABSTRACT Objective Return of disease activity is expected when patients discontinue disease‐modifying therapy (DMT) for multiple sclerosis (MS). Some MS DMTs are associated with higher‐than‐expected disease activity (rebound) after discontinuation.
Ralf Gold, Krzysztof W. Selmaj, Regina Berkovich, Jeffrey A. Cohen, Giancarlo Comi, Eva K. Havrdová, James K. Sheffield, Hetal Desai, Chun‐Yen Cheng, Jon V. Riolo, Andrew Thorpe, Erik DeBoer, Bruce A. C. Cree   +12 more
wiley   +1 more source