Results 111 to 120 of about 529,068 (299)

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

Bridge distances for networks

Let $G = (V,E)$ be a finite directed graph with a non-negative real length $μ_e$ assigned to every directed edge $e \in E$. We assume that $μ_e = +\infty$ for every non-edge $e \not\in E$. Fix any two distinct vertices $a, b \in V$. A directed path from $a$ to $b$ is called an $(a,b)$-path. An edge $e$ is called an $(a,b)$-bridge if it belongs to all $(
Gurvich, Vladimir, Naumova, Mariya
openaire   +2 more sources

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 more
wiley   +1 more source

Gender Differences in Networking of Slovenian SME’s [PDF]

Today, there is an indisputable fact that entrepreneurial (business) success derives from the establishment of mutual connection and cooperation, thereby presenting the essence of economic activities.
Katja CRNOGAJ, Karin SIREC
core  

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

Contribution of RENAM to informational services development for higher education and research [PDF]

Eastern European Journal of Regional Studies, 2015
The transition of the traditional science and higher education to e-Science and e-Education is fueled by the ever increasing needs to have access, process and visualize of exceedingly large amounts of data that can’t be managed without modern ...
Petru BOGATENCOV, Ion COVALENCO
doaj  

CSF Cytokine Network Organization Predicts Progression Independent of Relapse and MRI Activity in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Progression independent of relapse activity is a major determinant of long‐term disability in multiple sclerosis, but its immunopathologic basis remains incompletely understood. We investigated whether relapse‐independent progression in radiologically stable relapsing–remitting multiple sclerosis is associated with distinct ...
Antonio Bruno, Matteo Conti, Ettore Dolcetti, Federica Azzolini, Angela Borrelli, Roberta Fantozzi, Mario Stampanoni Bassi, Giovanni Galifi, Giuseppe Maccarrone, Luca Montaguti, Marco Cervigni, Maddalena Dal Pozzo, Roberto Furlan, Annamaria Finardi, Girolama Alessandra Marfia, Marco Salvetti, Antonella Conte, Fabio Buttari, Diego Centonze, Luana Gilio   +19 more
wiley   +1 more source

Utility of the APE2 Score as a Diagnostic Tool for Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To retrospectively evaluate the diagnostic performance of the Antibody Prevalence in Epilepsy and Encephalopathy (APE2) score relative to clinician‐adjudicated autoimmune encephalitis (AE) and the Graus criteria in a tertiary neuroimmunology referral cohort, including antibody‐negative AE.
Bijoya Basu, Sophia F. Damman, Samhitha M. Rai, Hesham Abboud   +3 more
wiley   +1 more source

Complementing Engel Classification: Postoperative Scalp EEG as an Objective Indicator in SEEG‐Guided Radiofrequency Thermocoagulation—A Seizure‐Onset Pattern‐Based Stratified Analysis—

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Stereoelectroencephalography‐guided radiofrequency thermocoagulation (SEEG‐RFTC) is a minimally invasive therapy for drug‐resistant focal epilepsy. However, the relationship between specific seizure‐onset patterns (SOPs), particularly low‐voltage fast activity (LVFA), and postoperative scalp EEG normalization remains inadequately ...
Yi‐qing Yang, Rui Zhang, Haiyan Ma, Lu Yang, Xuefeng Qu, Qiqi Chen, Yan Zhang   +6 more
wiley   +1 more source

A neuro-symbolic AI approach for translating children’s stories from English to Tamil with emotional paraphrasing

Scientific Reports
Machine translation plays a critical role in expanding access to information across diverse languages and cultures. For children’s literature, there is a need for translation models that can preserve both linguistic accuracy and emotional sensitivity ...
P. Matan, P. Velvizhy
doaj   +1 more source