Results 171 to 180 of about 4,309,540 (267)

Copy Number Variants and Their Association With Intracerebral Hemorrhage Risk: A Case–Control Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Intracerebral Hemorrhage (ICH) is a leading cause of morbidity and mortality worldwide and lacks effective therapeutic interventions. Despite previous studies, the genetic underpinnings of ICH remain poorly understood. We sought to investigate the role of copy number variants (CNVs) in ICH pathophysiology to identify novel ...
Savvina Prapiadou, Carl D. Langefeld, Padmini Sekar, Mary Comeau, Timothy Howard, Tamara N. Kimball, Chen Bowang, Hyacinth I. Hyacinth, Jonathan Rosand, Christopher D. Anderson, Caspar Grond‐Ginsbach, Daniel Woo, Stacie L. Demel   +12 more
wiley   +1 more source

Linking the NETSARC+ National Sarcoma Database With the SNDS to Evaluate Adjuvant and/or Neoadjuvant Therapy: Report on the Linkage Process and Result (Health Data Hub's DEEPSARC Pilot Project). [PDF]

Fundam Clin Pharmacol
Drezen E, Happe A, Thevenet V, Penel N, Gouin F, Le Loarer F, Du Bouexic De Pinieux G, Crochet H, Airiau CC, Ducimetiere F, Mathoulin Pelissier S, Blay JY, Oger E.   +12 more
europepmc   +1 more source

Lessons Learned: Quality Analysis of Optical Coherence Tomography in Neuromyelitis Optica

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Optical coherence tomography (OCT)‐derived retina measurements are markers for neuroaxonal visual pathway status. High‐quality OCT scans are essential for reliable measurements, but their acquisition is particularly challenging in eyes with severe visual impairment, as often observed in neuromyelitis optica spectrum disorders ...
Hadi Salih, Sara Samadzadeh, Charlotte Bereuter, Seyedamirhosein Motamedi, Claudia Chien, Pablo Villoslada, Hadas Stiebel‐Kalish, Nasrin Asgari, Yang Mao‐Draayer, Marius Ringelstein, Joachim Havla, Marco Aurélio Lana Peixoto, Ho Jin Kim, Jacqueline Palace, Maria Isabel Leite, Srilakshmi M. Sharma, Fereshteh Ashtari, Rahele Kafieh, Lekha Pandit, Orhan Aktas, Philipp Albrecht, Letizia Leocani, Itay Lotan, Sasitorn Siritho, Jérôme de Seze, Romain Marignier, Caroline Froment Tilikete, Denis Bernardi Bichuetti, Ivan Maynart Tavares, Ayse Altintas, Anu Jacob, Saif Huda, Ibis Soto de Castillo, Lawrence J. Cook, Michael R. Yeaman, Axel Petzold, Alexander U. Brandt, Friedemann Paul, Frederike C. Oertel, Hanna G. Zimmermann, with the Guthy Jackson Charitable Foundation—International Clinical Consortium and CROCTINO Collaborators   +40 more
wiley   +1 more source

CellMap: precision mapping of cellular landscape in spatial transcriptomics. [PDF]

Nucleic Acids Res
Liu H, Li H, Sharma A, Tang G, Xie Z, Shen Y, Li Q, Gong C, Sun X, Luo K, Liu H.   +10 more
europepmc   +1 more source

Domain Specific Placebo Response in the Modified Friedreich's Ataxia Rating Scale

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The placebo response in clinical trials in ataxias complicates outcome interpretation and potentially obscures genuine treatment effects. We analyzed placebo group data from past trials in Friedreich Ataxia and observed notable responses in appendicular items, in contrast to minimal changes in axial function, as measured by respective ...
Christian Rummey, Jennifer M. Farmer, David R. Lynch   +2 more
wiley   +1 more source

Network Localization of Fatigue in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Fatigue is among the most common symptoms and one of the main factors determining the quality of life in multiple sclerosis (MS). However, the neurobiological mechanisms underlying fatigue are not fully understood. Here we studied lesion locations and their connections in individuals with MS, aiming to identify brain networks ...
Olli Likitalo, Jaakko Kungshamn, Albert Bellmunt‐Gil, Silvia Tommasin, Abhineet Ojha, Matias Viitala, Juho Aaltonen, Jyrki Lötjönen, Juha Koikkalainen, Pauli Ylikotila, Patrizia Pantano, Merja Soilu‐Hänninen, Juho Joutsa   +12 more
wiley   +1 more source

Antimicrobial resistance databases: opportunities and challenges for public health. [PDF]

NPJ Antimicrob Resist
Centner CM, Di Gregorio S, Argimón S, Brankin A, Dean A, Marcano Zamora D, Bertagnolio S.   +6 more
europepmc   +1 more source

Persistent Leukoencephalopathy Following H1N1 Infection Associated With a Novel MYRF Variant (p.Gly735Asp)

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Mutations in myelin regulatory factor (MYRF) are linked to demyelinating disorders. We report a 38‐year‐old male who developed acute symmetric leukoencephalopathy mimicking a stroke following an influenza A virus infection. While clinical symptoms markedly improved with corticosteroids, MRI revealed persistent white matter lesions, contrasting
Jinghan Hu, Leiyun Huang, Wan Zhu, Min Peng, Qiang Gong, Jing Qian   +5 more
wiley   +1 more source

The IUPHAR/BPS Guide to PHARMACOLOGY in 2026. [PDF]

Nucleic Acids Res
Harding SD, Armstrong JF, Faccenda E, Southan C, Alexander SPH, Davenport AP, Spedding M, Davies JA.   +7 more
europepmc   +1 more source

Dorsolateral Cervical Cord T2 Hyperintensity in KIF1C‐Related Disease (Spastic Paraplegia 58): Two Long‐Duration Cases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake, Masao Osaki, Takashi Matsukawa, Miho Osako, Chisen Takeuchi, Hiroyuki Ishiura, Jun Mitsui, Ryo Kurokawa, Harushi Mori, Yuji Takahashi, Jun Goto, Shoji Tsuji, Tatsushi Toda   +12 more
wiley   +1 more source