Results 201 to 210 of about 15,562 (263)

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

Turbulence and particle dynamics in volcanic clouds in humid atmospheres. [PDF]

Sci Rep
Zapata F, Mininni PD, Ravichandran S, Cimarelli C, Ichihara M.   +4 more
europepmc   +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

A 57‐Year‐Old Male With Behavioral Variant Frontotemporal Dementia and MATR3 and NOS3 Mutations

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This report presents a case of behavioral variant frontotemporal dementia caused by mutations in the MATR3 and NOS3 genes, aiming to analyze its clinical manifestations and genetic characteristics. For a case presenting with personality changes and gait abnormalities as the initial symptoms, this study conducted a comprehensive analysis of its
Feifei Lin, Saie Huang
wiley   +1 more source

Fluid-structure interaction and thermal performance: a numerical study on crossflow heat exchangers with aerodynamically optimised splitter elements. [PDF]

Sci Rep
Kaushik S, Singh H, Kumar A, Kishore C, Pati PR, Chamoli S, Giri J, Kanan M.   +7 more
europepmc   +1 more source

Effects of Deadman State on the Safety of Locally Eroded Blast Furnace Hearth: A Multiphysics Coupling Modeling Study. [PDF]

ACS Omega
Yuan F, Chen L, Zhao L, Wang L, Li Z, Zhong Y.   +5 more
europepmc   +1 more source

CFD Modeling of Airflow and Aerosol Transport in the Human Respiratory System: A Comprehensive Review. [PDF]

Pharm Res
Ciloglu D, Ucuncu H.
europepmc   +1 more source

Metamaterials and Fluid Flows. [PDF]

Nat Commun
Avallone F, Bosia F, Chen Y, Colombo G, Craster R, De Ponti JM, Fabbiane N, Haberman MR, Hussein MI, Hwang W, Iemma U, Juhl A, Kadic M, Kotsonis M, Laude V, Marquet O, Mery F, Michelis T, Nouh M, Ragni D, Touboul M, Wegener M, Krushynska AO.   +22 more
europepmc   +1 more source

Study on the deoxygenation characteristics of RP-5 aviation fuel via nitrogen-enriched air scrubbing inerting. [PDF]

Sci Rep
Li C, Liu S, Xu L, Feng S, Liu G.
europepmc   +1 more source

Numerical Simulation of Atmospheric Pollutant Dispersion on Campus: Impacts of Wind Environment and Newly Constructed Buildings' Height. [PDF]

J Xenobiot
Liao C, Ren L, Xu L, Zhao R, Zhao B, Lin S, Zhang T, Zhuang Y, Gao Y, Ji Y.   +9 more
europepmc   +1 more source