Results 111 to 120 of about 506,046 (357)

Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2‐Related Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Paroxysmal kinesigenic dyskinesia (PKD) is the most common hereditary paroxysmal movement disorder. The PRRT2 gene is the first identified causative gene and accounts for the majority of PKD. In this study, we investigated the pathogenicity of PRRT2 variants in the splice regions. Methods Patients with clinically suspected PKD and no
Jiao‐Jiao Xu, Yu‐Lan Chen, Wan‐Bing Sun, Hong‐Fu Li, Zhi‐Ying Wu, Dian‐Fu Chen   +5 more
wiley   +1 more source

Enzymatic activities of mouse nerve growth factor and its subunits. [PDF]

, 1968
Lloyd A. Greene, Eric M. Shooter, Silvio Varon   +2 more
openalex   +1 more source

Quantity and Volume of Perivascular Spaces Are Inversely Associated With Multiple Sclerosis Relative to Cerebrovascular Disease and Migraine

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To quantify the number and volume of whole brain perivascular spaces (PVS) using a detection and segmentation algorithm in participants with multiple sclerosis (MS) and patients with disorders mimicking MS known to potentially influence PVS, such as cerebrovascular disease.
Elle M. Levit, Elizabeth A. Horwath, Daniel L. Schwartz, Lisa C. Silbert, Russell T. Shinohara, Andrew J. Solomon   +5 more
wiley   +1 more source

Growth Differentiation Factor 15 Elevation in the Central Nervous System Is Associated With Failure to Thrive in Alexander Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Alexander disease (AxD) is a severe neurodegenerative disorder caused by gain‐of‐function mutations in the gene for GFAP, which lead to protein aggregation and a primary astrocytopathy. Symptoms vary, but failure to thrive (FTT) and frequent emesis are common and cause significant morbidity. Here we investigate GDF15, a member of the
Tracy L. Hagemann, Michelle M. Sonsalla, Cora Luzinski, Fernando Zacahua, David A. Harris, Dudley W. Lamming, Albee Messing   +6 more
wiley   +1 more source

Binary specification of nerve cord and notochord cell fates in ascidian embryos [PDF]

, 2001
In the ascidian embryo, the nerve cord and notochord of the tail of tadpole larvae originate from the precursor blastomeres for both tissues in the 32-cell-stage embryo. Each fate is separated into two daughter blastomeres at the next cleavage.
Makabe, Kazuhiro W., Minokawa, Takuya, Nishida, Hiroki, Yagi, Kasumi   +3 more
core  

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

Effects of Nerve Growth Factor from the venom ofVipera russellion sensory and sympathetic ganglia from the embryonic chick in culture [PDF]

, 1974
K. A. Charlwood, Marjorie J. Griffith, Margaret D. Lamont, C. A. Vernon, Joan C. Wilcock   +4 more
openalex   +1 more source

Decreased Serum 5‐HT: Clinical Correlates and Regulatory Role in NMJ of MG

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Although 5‐Hydroxytryptamine (5‐HT) indirectly stimulates muscle contraction and participates in regulating Acetylcholine receptor (AChR) cluster homeostasis in cellular, animal, and clinical studies, evidence regarding its potential to modulate muscle contraction in myasthenia gravis (MG) remains limited.
Xinru Shen, Jing Zhang, Xinyue Zhou, Xiaoxiao Yu, Haodong Shang, Shufan Chen, Lulu Zhen, Jinru Wu, Guanlian Hu, Xiaoyan Zhu, Zhan Sun, Yiren Wang, Jiahui Wang, Jie Lv, Xue Zhao, Yingna Zhang, Wei Guo, Ying Peng, Feng Gao   +18 more
wiley   +1 more source

Aberrant Expression of Histamine-independent Pruritogenic Mediators in Keratinocytes may be Involved in the Pathogenesis of Prurigo Nodularis

Acta Dermato-Venereologica, 2019
Prurigo nodularis is a highly pruritic and hyperplastic chronic dermatosis with unknown pathogenesis. Many pruritogenic mediators, including nerve growth factor, interleukin (IL)-31, thymic stromal lymphopoietin, and endothelin-1, are implicated in ...
Weilong Zhong, Xia Wu, Wei Zhang, Jie Zhang, Xiaofan Chen, Shihong Chen, Haiyan Huang, Yong Yang, Bo Yu, Xia Dou   +9 more
doaj   +1 more source

Role of nerve growth factor in the development of rat sympathetic neurons in vitro. I. Survival, growth, and differentiation of catecholamine production. [PDF]

, 1977
Linda L.Y. Chun, Paul H. Patterson
openalex   +1 more source