Results 41 to 50 of about 222,838 (270)

The Diverse Neuromuscular Spectrum of VPS13A Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger, Evamaria Riedel, Marie Hackenberg, Alexander Mensch, Stefanie Beck‐Woedl, Joohyun Park, Tobias B. Haack, Bernhard Haslinger, Jan Kirschke, Holger Prokisch, Andreas Hermann, Christian Mawrin, Adrian Danek, Benedikt Schoser, Kevin Peikert, Marcus Deschauer, Isabell Cordts   +16 more
wiley   +1 more source

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

High-energy fixed-angle meson scattering and the constituent counting rule in holographic QCD

Journal of High Energy Physics
We investigate the high-energy fixed-angle scattering of pions and ρ-mesons in a bottom-up holographic QCD model. To this end, we generalise the approach of Polchinski and Strassler [1] to write an ansatz for meson scattering amplitudes based on ...
Adi Armoni, Bartosz Pyszkowski, Shigeki Sugimoto, Dorin Weissman   +3 more
doaj   +1 more source

Massive scattering amplitudes in six dimensions

Journal of High Energy Physics, 2019
We show that a natural spinor-helicity formalism that can describe massive scattering amplitudes exists in D = 6 dimensions. This is arranged by having helicity spinors carry an index in the Dirac spinor 4 of the massive little group, SO(5) ∼ Sp(4).
Rishabh Jha, Chethan Krishnan, K. V. Pavan Kumar   +2 more
doaj   +1 more source

Nationwide Characterization of MFN2‐Related CMT in 176 Japanese Patients: Clinical and Genetic Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Mitofusin 2 (MFN2) is a major causative gene for axonal Charcot – Marie – Tooth disease type 2A (CMT2A), with a wide phenotypic spectrum. Comprehensive large ‐ scale genotype – phenotype association studies are essential for understanding disease pathogenesis and improved clinical management.
Masahiro Ando, Yujiro Higuchi, Jun‐Hui Yuan, Akiko Yoshimura, Chikashi Yano, Takahiro Hobara, Fumikazu Kojima, Yu Hiramatsu, Satoshi Nozuma, Tomonori Nakamura, Yusuke Sakiyama, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima   +13 more
wiley   +1 more source

Splitting amplitudes at N3LO in QCD

Journal of High Energy Physics
In the limit where partons become collinear to each other, scattering amplitudes factorize into a product of universal, process-independent building blocks and scattering amplitudes involving fewer partons.
Xin Guan, Franz Herzog, Yao Ma, Bernhard Mistlberger, Adi Suresh   +4 more
doaj   +1 more source

Power-law Behavior of High Energy String Scatterings in Compact Spaces

, 2007
We calculate high energy massive scattering amplitudes of closed bosonic string compactified on the torus. We obtain infinite linear relations among high energy scattering amplitudes.
Chan C T, J-C Lee, Maldacena J, Y Yang
core   +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

Worldline geometries for scattering amplitudes

Journal of High Energy Physics
In this paper, we construct the path integral for infinite and semi-infinite scalar worldlines. We show that, at the asymptotic endpoints, on-shell physical states can be generated by inserting vertex operators at infinity.
Roberto Bonezzi, Maria Foteini Kallimani
doaj   +1 more source

Spinning amplitudes from scalar amplitudes

Journal of High Energy Physics, 2021
We provide a systematic method to compute tree-level scattering amplitudes with spinning external states from amplitudes with scalar external states in arbitrary spacetime dimensions.
Mahesh K. N. Balasubramanian, Raj Patil, Arnab Rudra   +2 more
doaj   +1 more source