Results 161 to 170 of about 11,144,186 (305)

Comparative Effectiveness and Safety of Inebilizumab Versus Rituximab in AQP4‐IgG‐Positive NMOSD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Rituximab (anti‐CD20, RTX) and inebilizumab (anti‐CD19, INE) represent B‐cell‐depleting therapies used for aquaporin‐4 antibody‐positive (AQP4‐IgG+) neuromyelitis optica spectrum disorder (NMOSD); however, direct comparative evidence remains limited.
Jie Lin, Binbin Xue, Dewei Xie, Jia Li, Juyuan Pan, Lanbing Zhu, Qiaowen Tong, Jing Lin, Ruofan Zhu, Xu Zhang, Junhui Xia, Xiang Li   +11 more
wiley   +1 more source

X-linked recessive ichthyosis with X-linked retinoschisis in two brothers: a case report. [PDF]

Front Genet
Liu K, Du X, Yang X, Chen C.
europepmc   +1 more source

Spatial and Volumetric Characteristics of Glioblastoma: Associations With Clinical Presentation and Survival

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to comprehensively analyze how regional tumor and edema characteristics are associated with clinical presentations and survival outcomes in a large cohort of glioblastoma patients. Methods Patients with IDH‐wildtype glioblastoma who received brain MRI from 2010 to 2023 were included.
Daniel J. Zhou, Marc Jaskir, Julian Gal, Yombe Fonkeu, Christos Davatzikos, MacLean P. Nasrallah, Jose Garcia, Rubo Xing, Stephen J. Bagley, Arati Desai, Richard E. Phillips, Steven Tobochnik, Colin A. Ellis, James J. Gugger, Nishant Sinha, Joel M. Stein, Kathryn A. Davis   +16 more
wiley   +1 more source

Two Cases of Multiple Sclerosis in a Family With X-Linked Charcot-Marie-Tooth Disease. [PDF]

Neurol Genet
Menih M, Hojs Fabjan T, Maver A, Peterlin B.   +3 more
europepmc   +1 more source

Plasma EV Proteomics Identifies ECM Remodeling and Inflammatory Proteins LUM and C7 as Candidate Biomarkers in FSHD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit, Chiranth K. Nagaraj, Jackson S. Newell, Kim Truc Nguyen, Xilal Y. Rima, Jacob Doon‐Ralls, Eduardo Reátegui, Jeffrey M. Statland, Rabi Tawil, Kevin M. Flanigan, Scott Q. Harper, Nizar Y. Saad   +11 more
wiley   +1 more source

A molecular genetic study of X-linked retinal diseases

, 2001
The X chromosome is home to a large number of genes involved in retinal disease. Two diseases studied in detail in this thesis are X-linked retinitis pigmentosa (XLRP) and X- linked congenital stationary night blindness (CSNBX). XLRP and CSNBX share some
Zito, Ilaria
core  

P818: Data from electronic healthcare records expands our understanding of X-linked genetic diseases*

Genetics in Medicine Open
Rory Tinker, Lisa Bastarache, Kimberly Ezell, Serena Neumann, Yutaka Furuta, Karee Morgan, John Phillips   +6 more
doaj   +1 more source

Letter to the Editor: Causality dilemma of cytochrome P450 1A2 reduction in neonatal cholestasis. [PDF]

World J Clin Pediatr
Yiğit H, Gökoğlu A, Gökoğlu S.
europepmc   +1 more source

The Multiple Sclerosis Severity Allele rs10191329A and Cognitive Function: A UK Biobank Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The genome‐wide association study of Multiple Sclerosis severity linked the genetic variant rs10191329A to long‐term disability and implicated brain resilience as a determinant of outcome. We hypothesised that rs10191329A might influence cognition in other neurological diseases and healthy controls.
Ioanna Zimianiti, Sheena Waters, Adil Harroud, Pernilla Stridh, Ruth Dobson, Benjamin M. Jacobs   +5 more
wiley   +1 more source

Optical genome mapping improves structural variant detection and characterization in syndromic and neurogenetic disorders. [PDF]

Hum Genet
Lederbogen RC, Hoffjan S, Köhler C, Thiels C, Mau-Holzmann UA, Singer S, Schreiber S, Purczeld A, Buchert R, Yusenko MV, Nguyen HHP, Gerding WM.   +11 more
europepmc   +1 more source