Results 171 to 180 of about 936 (262)

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

Enhancing Efficiency in Coal-Fired Boilers Using a New Predictive Control Method for Key Parameters. [PDF]

Sensors (Basel)
Li Q, Yu L, Liu T, Li L, Lin Y, Wang T, Yang C, Wang L, Weng W, Zheng C, Gao X.   +10 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

Uncovering the BIN1-SH3 interactome underpinning centronuclear myopathy. [PDF]

Elife
Zambo B, Edelweiss E, Morlet B, Negroni L, Pajkos M, Dosztanyi Z, Ostergaard S, Trave G, Laporte J, Gogl G.   +9 more
europepmc   +1 more source

Paramagnetic Rim Lesions and Choroid Plexus Volume at Diagnosis Are Associated With Cognitive Progression Independent of Relapse and MRI Activity in Early Relapsing–Remitting Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Paramagnetic rim lesions (PRLs) and choroid plexus (CP) enlargement reflect smoldering inflammation in multiple sclerosis. Their role in cognitive progression remains unexplored. Eighty‐seven early relapsing–remitting MS patients were enrolled at diagnosis and followed longitudinally.
Stefano Ziccardi, Damiano Marastoni, Agnese Tamanti, Pietro Biasi, Valentina Visani, Annalisa Colombi, Tom A. Fuchs, Monica Sicchieri, Chiara Eccher, Francesco Guarnaccia, Milena Calderone, Valentina Camera, Francesca Benedetta Pizzini, Roberta Magliozzi, Marco Castellaro, Massimiliano Calabrese   +15 more
wiley   +1 more source

Development of Steady-State and Dynamic Mass and Energy Constrained Neural Networks for Distributed Chemical Systems Using Noisy Transient Data. [PDF]

Ind Eng Chem Res
Mukherjee A, Bhattacharyya D.
europepmc   +1 more source

Human Pegivirus Encephalitis With Brain Detection and Response to Sofosbuvir Ledipasvir

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Human pegivirus (HPgV‐1) has been associated with severe encephalomyelitis in immunocompromised patients. Its neurological spectrum remains poorly defined. We report a slowly progressive encephalitis in a person living with well‐controlled HIV, characterized by white matter abnormalities and inflammatory cerebrospinal fluid (CSF). HPgV RNA was
Antoine Moulignier, Françoise Heran, Francis Lallemand, Pierre Bourdillon   +3 more
wiley   +1 more source

CFD Modeling of Shear-Rate Distribution in a Bubble Column Bioreactor: Influence of Bubble Diameter and Lift Force. [PDF]

ACS Omega
Silva ACB, Esperança MN, Badino AC, Béttega R.   +3 more
europepmc   +1 more source

Digital Cognitive Phenotyping for Differential Diagnosis and Monitoring in Neurological Conditions

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To assess the utility, accessibility, and equivalence to supervised scales of online cognitive assessment in older individuals with cognitive impairment. Methods Patients with Alzheimer's disease (AD, n = 31), idiopathic normal pressure hydrocephalus (iNPH, n = 26), and traumatic brain injury (TBI, n = 23) completed online cognitive ...
Martina Del Giovane, Valentina Giunchiglia, Michael C. B. David, Magdalena A. Kolanko, William R. Trender, Peter J. Hellyer, Harmeena Kaur, David J. Sharp, Christopher Carswell, Paresh A. Malhotra, Adam Hampshire   +10 more
wiley   +1 more source