Results 71 to 80 of about 21,213 (253)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Improving the induction motor starting mode under a voltage drop conditions

Informatyka, Automatyka, Pomiary w Gospodarce i Ochronie Środowiska
Asynchronous motors are the most common electric motors used to drive work machines. This is due to their high structural reliability and other significant advantages. During operation, they are exposed to a variety of operational influences. One of the
Oleksandr Vovk, Serhii Halko, Andrii Sabo, Oleksandr Miroshnyk, Taras Shchur   +4 more
doaj   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Blood RNA Biomarker Signatures for Early Diagnosis and Prognosis in Ischemic and Hemorrhagic Stroke: The IBIS‐CT1 Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate the expression of nine blood RNA biomarkers in a clinical trial based on genes previously identified in an experimental monkey model of stroke for diagnosis feasibility and prognostication. Methods IBIS‐CT1 was a prospective longitudinal study enrolling patients with ischemic stroke (IS) or intracerebral hemorrhage (ICH ...
Salomé Retailleau, Marie Bruguet, Irina Viakhireva‐Dovganyuk, François‐Mathias Merrien, Denis Marechal, Aurore Jourdain, Philippe Goas, Jordan Coris, Julien Asselineau, Maëlys Consigny, Gérald Le Gac, Serge Timsit   +11 more
wiley   +1 more source

Disease Course After Anti‐CD20 Discontinuation in Secondary Progressive Multiple Sclerosis—A Multicenter Long‐Term Longitudinal Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To describe long‐term outcomes after anti‐CD20 discontinuation in selected patients with secondary progressive multiple sclerosis (SPMS) who remained without subsequent disease‐modifying therapy (DMT). Methods We retrospectively analyzed data from four centers in Austria and Switzerland.
Ferdinand Otto, Dariia Kliushnikova, Richard Friedrich Radlberger, Sinan Yasaroglu, Tobias Moser, Andrea Harrer, Kitty Kratzer, Wolfgang Hitzl, Christiane Gradl, Martin Schmidauer, Patrick Roth, Harald Hegen, Peter Wipfler   +12 more
wiley   +1 more source

Histopathological Evidence of Neurodegenerative Pathology in Epilepsy: A Systematic Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Epilepsy affects > 50 million people worldwide and is associated with a disproportionate burden of cognitive impairment. Emerging evidence suggests that neurodegenerative proteinopathies, particularly hyperphosphorylated tau (p‐tau) and amyloid‐β (Aβ), may contribute to cognitive dysfunction in people with epilepsy (PWE), even in the absence ...
Syeda Amrah Hashmi, Aleksander Luniewski, Vanessa Smith, Matthew McCord, Jaideep Kapur, Mark Quigg, Catherine Joshua, Ifrah Zawar   +7 more
wiley   +1 more source

Quality control for the first large areas of triple-GEM chambers for the CMS endcaps

EPJ Web of Conferences, 2018
The CMS Collaboration plans to equip the very forward muon system with triple-GEM detectors that can withstand the environment of the High-Luminosity LHC. This project is at the final stages of R&D and moving to production. An unprecedented large area of
Abbaneo D., Abbas M., Abbrescia M., Abi Akl M., Aboamer O., Acosta D., Ahmad A., Ahmed W., Aleksandrov A., Altieri P., Asawatangtrakuldee C., Aspell P., Assran Y., Awan I., Bally S., Ban Y., Banerjee S., Barashko V., Barria P., Bencze G., Beni N., Benussi L., Bhopatkar V., Bianco S., Bos J., Bouhali O., Braghieri A., Braibant S., Buontempo S., Calabria C., Caponero M., Caputo C., Cassese F., Castaneda A., Cauwenbergh S., Cavallo F.R., Celik A., Choi M., Choi S., Christiansen J., Cimmino A., Colafranceschi S., Colaleo A., Conde Garcia A., Czellar S., Dabrowski M.M., De Lentdecker G., De Oliveira R., de Robertis G., Dildick S., Dorney B., Endroczi G., Errico F., Fenyvesi A., Ferry S., Furic I., Giacomelli P., Gilmore J., Golovtsov V., Guiducci L., Guilloux F., Gutierrez A., Hadjiiska R.M., Hauser J., Hoepfner K., Hohlmann M., Hoorani H., Iaydjiev P., Jeng Y.G., Kamon T., Karchin P., Korytov A., Krutelyov S., Kumar A., Kim H., Lee J., Lenzi T., Litov L., Loddo F., Madorsky A., Maerschalk T., Maggi M., Magnani A., Mal P.K., Mandal K., Marchioro A., Marinov A., Majumdar N., Merlin J.A., Mitselmakher G., Mohanty A.K., Mohapatra A., Molnar J., Muhammad S., Mukhopadhyay S., Naimuddin M., Nuzzo S., Oliveri E., Pant L.M., Paolucci P., Park I., Passeggio G., Pavlov B., Philipps B., Piccolo D., Postema H., Puig Baranac A., Radi A., Radogna R., Raffone G., Ranieri A., Rashevski G., Riccardi C., Rodozov M., Rodrigues A., Ropelewski L., RoyChowdhury S., Ryu G., Ryu M.S., Safonov A., Salva S., Saviano G., Sharma A., Sharma A., Sharma R., Shah A.H., Shopova M., Sturdy J., Sultanov G., Swain S.K., Szillasi Z., Talvitie J., Tatarinov A., Tuuva T., Tytgat M., Vai I., Van Stenis M., Venditti R., Verhagen E., Verwilligen P., Vitulo P., Volkov S., Vorobyev A., Wang D., Wang M., Yang U., Yang Y., Yonamine R., Zaganidis N., Zenoni F., Zhang A.   +150 more
doaj   +1 more source

Distinct Systemic Sclerosis Phenotypes Related to Ethnicity: An Opportunity to Personalize Care?

Arthritis Care &Research, EarlyView.
Objective The objective is to describe and compare demographic, clinical, and serological characteristics of patients with systemic sclerosis (SSc) according to ethnic background. Methods Participants enrolled in the Canadian Scleroderma Research Group cohort who self‐identified to a single ethnicity group were included.
Danick Goulet, Camille Guertin, Maggie Larché, Isabelle Ferdinand, Marie Hudson, May Y. Choi, Mohammed Osman, Janet Pope, Carter Thorne, Murray Baron, Sasha Bernatsky, Sabrina Hoa   +11 more
wiley   +1 more source

A Novel Sub-Module-Based Line-Commutated Converter That Is Actively Resistant to Commutation Failure

Actuators
To improve the ability of line-commutated converters (LCCs) to resist commutation failure (CF) when a fault occurs on the AC side, a novel sub-module-based LCC topology actively resistant to CF is proposed in this paper.
Hongchun Shu, Junjie Zhang, Yaoxi Jiang
doaj   +1 more source