Results 201 to 210 of about 895,293 (294)

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

Beyond Citations: Assessing the Online Impact of <i>Journal of Indian Association of Pediatric Surgeons</i> through Altmetrics.

J Indian Assoc Pediatr Surg
Phugat S, Goel P, Sahrawat U, Agrawal V, Shah RS.   +4 more
europepmc   +1 more source

Trends in the psychedelic renaissance: applying artificial intelligence to measure media portrayal of psychedelic drugs in the 21st century. [PDF]

BJPsych Open
Bender DA, Dunn HM, Pekau A, Mohite AD, Anandarajah A, Ross BD, Steinle J, Shankar S, Kiley B, Martin S, Gonuguntla R, Stonov M, Pippala N, Abdalla R, Stille MK, Yusuf J, Villalba M, Werner G, Divekar A, Daniels-Tineo M, Wang H, Chertock S, Sharma S, Ahmed SA, Bandyopadhyay R, Sridhar J, Iyer M, Adeyemi A, Smart K, Jalil U, Alam Z, Ercal BC, Hellerstein DJ, Nemeroff CB.   +33 more
europepmc   +1 more source

Prognostic Value of Neurofilament Light Chain and Glial Fibrillary Acidic Protein in ALD‐Related Myelopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background X‐linked adrenoleukodystrophy (X‐ALD) is a neurometabolic disorder caused by pathogenic variants in ABCD1, leading to slowly progressive spinal cord disease in nearly all affected men. Sensitive biomarkers to quantify disease severity and predict progression are needed for clinical care and trial design.
Eda G. Kabak, Marije M. C. Voermans, Hans Heijst, Charlotte E. Teunissen, Marc Engelen   +4 more
wiley   +1 more source

Representation of mental illness and disorders in Iberoamerica digital media. [PDF]

BMC Psychiatry
Romero-Rodríguez LM, Tejedor S, Rull Ribó D, Martínez-Fernandez J, Castillo-Abdul B.   +4 more
europepmc   +1 more source

Memory and Resting‐State Connectivity in Acute Transient Global Amnesia: A Case–Control fMRI Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Transient global amnesia (TGA) is a striking model of isolated amnesia. While hippocampal lesions are well described, the network‐level mechanisms and the precise neuropsychological profile remain debated. Our objective was thus to characterize functional and neuropsychological correlates of acute TGA and their ...
Elias El Otmani, Emmanuel Barbeau, Béatrice Lemesle, Emilie Milongo‐Rigal, Sophie Fernandez, Sandrine Charpentier, Jean‐François Albucher, Nicolas Raposo, Fabrice Bonneville, Patrice Péran, Jérémie Pariente   +10 more
wiley   +1 more source

Understanding impact factor and citescore. [PDF]

Saudi J Anaesth
Borkar NK, Nair AS, Meshram S.
europepmc   +1 more source

Comparing Social Media and News Articles on Climate Change: Different Viewpoints Revealed

KSII Transactions on Internet and Information Systems, 2023
openaire   +1 more source

Persistent Bilateral [18F]THK5351 and Migrating Unilateral [18F]FDG Uptake in Anti‐LGI1 Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Anti–leucine‐rich glioma‐inactivated 1 encephalitis (LGI1‐E) can cause persistent cognitive deficits, but the mechanisms remain unclear. A 40‐year‐old woman with LGI1‐E presented with subacute cognitive deficits and showed mild left medial temporal lobe (MTL) swelling and fluid‐attenuated inversion recovery (FLAIR) hyperintensity on initial ...
Yusuke Akitomi, Kenichiro Taira, Masanori Kurihara, Kenji Ishibashi, Kenji Ishii, Fumio Suzuki, Aya Midori Tokumaru, Makoto Hara, Atsushi Iwata   +8 more
wiley   +1 more source

Bonding Without Bridging: Social Capital, Integration, and Well-Being Among Filipina Marriage Migrants in South Korea. [PDF]

Int J Environ Res Public Health
Miranda AT, Miranda JLF, Kim E.
europepmc   +1 more source