Results 211 to 220 of about 390,058 (293)

Identification of pathogenic variants for the development of ultra-long axial length in myopic children. [PDF]

PLoS One
Zhu Y, Li X, Chen Y, Xie H, Liu Y, Xu X, Wang J.   +6 more
europepmc   +1 more source

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

Machine learning prediction of germline <i>BRCA1/2</i> pathogenic variants in patients with ovarian cancer. [PDF]

BMJ Health Care Inform
Innella G, Erini G, De Leo A, Godino L, Caramanna L, Ferrari S, Miccoli S, Perrone AM, Zamagni C, De Iaco P, Turchetti D, Rucci P.   +11 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

Pathogenic variants in affected and unaffected individuals from Indonesian familial cancer: a multigene panel analysis. [PDF]

Sci Rep
Muniroh M, Prihharsanti CHN, Limijadi EKS, Prajoko YW, Ichzana Y, Nabila Z, Setyawati P, Sutrisno RT, Teguh E, Utomo ARH.   +9 more
europepmc   +1 more source

Real‐World Investigation of Satralizumab in Patients With Neuromyelitis Optica Spectrum Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Satralizumab, a monoclonal antibody targeting the interleukin‐6 receptor, has demonstrated efficacy in clinical trials for neuromyelitis optica spectrum disorder (NMOSD). However, its real‐world effectiveness and safety compared to conventional immunosuppressive therapies remain uncertain.
Li‐Tsung Lin, Hui‐An Lin, Sheng‐Feng Lin   +2 more
wiley   +1 more source

Correction to "Succinate Dehydrogenase Pathogenic Variants Among Older Adults With Head and Neck Paragangliomas". [PDF]

Laryngoscope Investig Otolaryngol
europepmc   +1 more source

CDKL5 Deficiency Disorder: Revealing the Molecular Mechanism of Pathogenic Variants. [PDF]

Int J Mol Sci
Paul SK, Panday SK, Boccuto L, Alexov E.
europepmc   +1 more source

Fluid and Neuroimaging Biomarkers in Microgliopathy Colony‐Stimulating Factor‐1 Receptor‐Related Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study aims to identify both fluid and neuroimaging biomarkers for CSF1R‐RD that can inform the optimal timing of treatment administration to maximize therapeutic benefit, while also providing sensitive quantitative measurements to monitor disease progression.
Tomasz Chmiela, Madison Reeves, Karen Jansen‐West, Judith Dunmore, Yuping Song, Audrey Strongosky, Sunil Gandhi, Gilana Pikover, Matt Blurton‐Jones, Robert C. Spitale, Erik H. Middlebrooks, Leonard Petrucelli, Mercedes Prudencio, Zbigniew K. Wszolek   +13 more
wiley   +1 more source

Succinate Dehydrogenase Pathogenic Variants Among Older Adults With Head and Neck Paragangliomas. [PDF]

Laryngoscope Investig Otolaryngol
Bellamkonda N, Naumer A, Buchmann LO, McCrary HC, Espahbodi M, Patel NS.   +5 more
europepmc   +1 more source