Results 191 to 200 of about 292,166 (318)

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source

Characterization of nuclear localizing sequences derived from yeast ribosomal protein L29.

, 1990
Mark Underwood, Howard M. Fried
openalex   +2 more sources

Neurochemical Endpoints to Inform Early‐Stage Trials of Spinocerebellar Ataxia 2 and 3 in a Multisite Setting

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neurochemical levels measured by brain MR spectroscopy (MRS) have been proposed as endpoints for clinical trials in early‐stage spinocerebellar ataxia (SCA) trials. We tested their trial‐readiness by quantifying neurochemicals in three affected brain regions in early‐stage cohorts of SCA2 and SCA3, examining their reproducibility in ...
James M. Joers, Yaqiao Wei, Dinesh K. Deelchand, Adam Berrington, Young Woo Park, Guita Banan, Michal Povazan, Jens T. Rosenberg, André J. W. van der Kouwe, Tetsuo Ashizawa, Khalaf O. Bushara, Chiadi U. Onyike, Sub H. Subramony, Jeremy D. Schmahmann, Brian J. Soher, Peter B. Barker, Thomas H. Mareci, Eva‐Maria Ratai, Lynn E. Eberly, Gülin Öz   +19 more
wiley   +1 more source

Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs, Marcel Naumann, Annaliis Lehto, Hanna Schön, Jens Kurth, Johannes Prudlo, Andreas Hermann, Elisabeth Kasper   +7 more
wiley   +1 more source

Investigation of Laser Ablation and Brush Pre‐Treatments for AlCu Cold Roll Bonding in Oxygen‐Free Conditions

Advanced Engineering Materials, EarlyView.
It is shown that laser ablation pretreatment under oxygen‐free conditions enables copper–aluminium bonding at significantly lower deformation degrees and improved properties compared to mechanical brushing. Laser ablation further increases interface contact area and induces favourable residual stress states and microstructural compatibility ...
Khemais Barienti, Finn‐Lennard Janthur, Selina Raumel, Sascha Jan Zimmermann, Sarah Seffer, René Gustus, Sebastian Herbst, Marc C. Wurz, Ludger Overmeyer, Wolfgang Maus‐Friedrichs, Hans Jürgen Maier, Florian Nürnberger   +11 more
wiley   +1 more source

Microstructural Evolution and Vacancy Defect Formation in Mn–Mo–Ni RPV Steel Under Low Cycle Fatigue: Insights From EBSD and PALS

Advanced Engineering Materials, EarlyView.
Low‐cycle fatigue damage in Mn–Mo–Ni reactor pressure vessel steel is examined using a combined electron backscatter diffraction and positron annihilation lifetime spectroscopy approach. The study correlates texture evolution, dislocation substructure development, and vacancy‐type defect formation across uniform, necked, and fracture regions, providing
Apu Sarkar, Dhanadeep Dutta, G. Bharat Reddy   +2 more
wiley   +1 more source

Deletion of PTHrP nuclear localization sequence and carboxyl terminus leads to lung dysplasia. [PDF]

Sci Rep
Li Y, Jin Y, Zhou J, Cui M, Xiao C, Zhang Y.   +5 more
europepmc   +1 more source

The cAMP-dependent Protein Kinase Site (Ser312) Enhances Dorsal Nuclear Import through Facilitating Nuclear Localization Sequence/Importin Interaction [PDF]

, 1998
Lyndall J. Briggs, David Stein, Jason S. Goltz, Vanessa C. Corrigan, Athina Efthymiadis, Stefan Hübner, David A. Jans   +6 more
openalex   +1 more source

Reduction of Oxide Inclusions During the High‐Frequency Welding of Steel via a Nonthermal Ar/H2 Plasma Jet

Advanced Engineering Materials, EarlyView.
High‐frequency (HF) welding of steel is limited by oxide inclusions that degrade weld quality. This study demonstrates, for the first time, the integration of a nonthermal Ar/H2 dielectric barrier discharge (DBD) plasma jet into HF welding. Local plasma treatment provides effective shielding and in‐situ oxide reduction, resulting in markedly fewer and ...
Viktor Udachin, Lienhard Wegewitz, René Gustus, Henning Wiche, Wolfgang Maus‐Friedrichs   +4 more
wiley   +1 more source

Thermodynamic Pathways of Nonequilibrium Solidification in Wire‐Arc Additive Manufacturing Fe‐Based Multicomponent Alloy Structures

Advanced Engineering Materials, EarlyView.
Geometry‐driven thermal behavior in wire‐arc additive manufacturing (WAAM) influences microstructural evolution during nonequilibrium solidification of a chemically complex Fe–Cr–Nb–W–Mo–C nanocomposite system. By comparing different deposits configurations, distinct entropy–cooling rate correlations, segregation, and carbide evolution are revealed ...
Blanca Palacios, Anthony Gonzalez, Aleksander Aleman, Tyler Dolmetsch, Tanaji Paul, Arvind Agarwal   +5 more
wiley   +1 more source