Results 331 to 340 of about 363,457 (364)

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

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

MONTUR project: Dataset for understanding and forecasting tourist flows. [PDF]

PLoS One
Alderighi M, Ciano T, Ferrara M, Santoro D.   +3 more
europepmc   +1 more source

Hydrogen bonding heterogeneity correlates with protein folding transition state passage time as revealed by data sonification. [PDF]

Proc Natl Acad Sci U S A
Scaletti C, Russell PPS, Hebel KJ, Rickard MM, Boob M, Danksagmüller F, Taylor SA, Pogorelov TV, Gruebele M.   +8 more
europepmc   +1 more source

Planets larger than Neptune have elevated eccentricities. [PDF]

Proc Natl Acad Sci U S A
Gilbert GJ, Petigura EA, Entrican PM.
europepmc   +1 more source

Multi-Zone Visco-Node-Pore Sensing: A Microfluidic Platform for Multi-Frequency Viscoelastic Phenotyping of Single Cells. [PDF]

Adv Sci (Weinh)
Lai A, Hinz S, Dong A, Lustig M, LaBarge MA, Sohn LL.   +5 more
europepmc   +1 more source

Quantifying and reducing the cost of tagging: combining computational fluid dynamics and diving experiments to reduce impact from animal-borne tags. [PDF]

Proc Biol Sci
McKnight JC, Pass C, Thompson D, Balfour S, Brasseur SMJM, Embling C, Hastie G, Milne R, Kyte A, Moss SEW, Pemberton R, Russell DJF.   +11 more
europepmc   +1 more source

Moving the fat: Emerging roles of rab GTPases in the regulation of lipid droplet contact sites.

Curr Opin Cell Biol
Alonso-Bivou M, Pol A, Lo HP.
europepmc   +1 more source