Results 201 to 210 of about 26,442 (265)

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

Functional Characterization of a Novel <i>PBX1</i> De Novo Missense Variant Identified in a Pediatric Patient with CAKUT. [PDF]

Genes (Basel)
Scolari C, Faini AC, Verra G, Migliorero M, Brach Del Prever GM, Saglia C, Mioli F, Romeo CM, Carradori T, Luca M, Arruga F, Mattozzi F, Peruzzi L, Deaglio S, Vaisitti T.   +14 more
europepmc   +1 more source

Thalamo‐Lesional Connectivity Signatures of Bilateral Tonic–Clonic Seizures in Focal Cortical Dysplasia‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Focal cortical dysplasia (FCD) is the most common etiology of drug‐resistant epilepsy in children. Focal to bilateral tonic–clonic seizures (FBTCS) mark a high risk of drug‐resistant epilepsy and involve thalamocortical circuitry in their generation and propagation.
Hua Xie, Xiaotong Li, Venkata Sita Priyanka Illapani, Leigh N. Sepeta, Jason Schroeder, Chima O. Oluigbo, Madison M. Berl, William D. Gaillard, Nathan T. Cohen   +8 more
wiley   +1 more source

Special Issue: Molecular Mechanisms and Treatment of Retinal Diseases. [PDF]

Int J Mol Sci
Lee D, Vitiello L.
europepmc   +1 more source

Associations of Rheumatoid Arthritis Disease Activity With Frailty Over Five Years of Follow‐up

Arthritis Care &Research, EarlyView.
Objective To evaluate whether rheumatoid arthritis (RA) disease activity is associated with frailty both in cross‐section and longitudinally. Methods Participants within the Veterans Affairs Rheumatoid Arthritis (VARA) registry enrolled from 2003 to 2022 were included.
Courtney N. Loecker, Yangyuna Yang, Punyasha Roul, Aaron Baraff, Myra S. Schmaderer, Lani Zimmerman, Kaleb Michaud, Namrata Singh, Grant W. Cannon, Gary Kunkel, Ted R. Mikuls, Ariela R. Orkaby, Joshua F. Baker, Bryant R. England, Katherine D. Wysham   +14 more
wiley   +1 more source

Incidence and survival of vulvar and vaginal cancers in a province of Northern Italy: a population-based study. [PDF]

Gynecol Oncol Rep
Bisceglia I, Marinelli F, Mandato VD, Pirillo D, Morabito F, Neri A, Mangone L.   +6 more
europepmc   +1 more source

Adaptive Observer for Coupled Wave PDE and Infinite ODE With Sampled Data and Unknown Input: Application to Brain Hemodynamics Estimation

International Journal of Adaptive Control and Signal Processing, EarlyView.
This article proposes a convergent adaptive observer for a damped wave PDE and an infinite‐dimensional ODE coupled in cascade using sampled‐in‐space ODE state measurements. The proposed observer estimates the distributed states of the PDE and ODE along with unknown PDE parameters and spatial input.
Zehor Belkhatir, Sarah Mechhoud, Taous‐Meriem Laleg‐Kirati   +2 more
wiley   +1 more source

Local Councillors Between Local "Government" and Local "Governance"

, 1999
openaire   +2 more sources

Advancing abdominal surgery recovery implementation: a unified framework for intensified recovery protocols by the EUropean PErioperative MEdical Networking collaborative. [PDF]

Front Surg
Ioannidis O, Bourtzinakou AA, Ramirez JM, Fabbri N, Ubieto JM, Feo CV, Pesce A, Rosetzka K, Arroyo A, Kocián P, Sánchez-Guillén L, Bellosta AP, Whitley A, Enguita AB, Teresa-Fernandéz M, Bitsianis S, Symeonidis S, Anestiadou E.   +17 more
europepmc   +1 more source

Efficiency and Risk Assessment of Dental Bridge Removal Tools on Implant Abutments. [PDF]

J Funct Biomater
Schierano G, Baldi D, Bignardi C, Terzini M, Lugas AT.   +4 more
europepmc   +1 more source