Results 211 to 220 of about 542,975 (311)

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone, Freddy Chafota, Miguel E. Rentería, Randi J. Hagerman, Ellery Santos, Anna Atkinson, Nicholas G. Martin, Elsdon Storey, Danuta Z. Loesch   +8 more
wiley   +1 more source

Chemotherapy plus bevacizumab with or without anti-programmed death 1 immunotherapy as the second-line therapy in colorectal cancer. [PDF]

World J Gastroenterol
Gao Z, Wang XY, Shen ZG, Liu JH, Wang XY, Wu SK, Jin X.   +6 more
europepmc   +1 more source

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

Predicting response and survival of lung adenocarcinoma under anti-programmed death-1 therapy using biological deep learning. [PDF]

Brief Bioinform
Wang Y, Zhang L, Xie H, Wang L, Wang Y, Li S, He J, Wang M, Zhang X, Wang H, Li K, Cao L.   +11 more
europepmc   +1 more source

Longitudinal Assessment of Biomarkers in ALS: Discriminative Biomarkers for Disease Progression and Survival

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To assess the association and discriminative performance of serum biomarkers with clinical disease progression and survival in patients with amyotrophic lateral sclerosis (ALS). Methods This retrospective study, conducted at Houston Methodist Hospital, Houston, TX, used longitudinal serum samples collected between January 2018 and ...
David R. Beers, Yueh‐Yun Lin, Jason R. Thonhoff, Aaron D. Thome, Alireza Faridar, Weihua Zhao, Shixiang Wen, Stanley H. Appel   +7 more
wiley   +1 more source

Neoadjuvant anti-programmed death-1 immunotherapy by pembrolizumab in resectable non-small cell lung cancer: results of the NEOMUN trial. [PDF]

J Immunother Cancer
Eichhorn ME, Niedermaier B, Charoentong P, Klotz LV, Baum P, Griffo R, Allgäuer M, Stenzinger A, Bischoff H, Schneider MA, Christopoulos P, Haberkorn U, Heußel CP, Savai R, Roberti MP, Zoernig I, Jäger D, Herth F, Thomas M, Winter H, Eichhorn F.   +20 more
europepmc   +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

Disitamab vedotin plus programmed death-1 inhibitor for pre-treated HER2 overexpressed advanced gastric cancer: a multicentre retrospective real-world study. [PDF]

Ann Med
Yan X, Xie Z, Ouyang K, Lai M, Yang L, Huang T, Li F, Liang H, Huang K, Li Z, Xie Q, Zhong R, Zhang H, Lai M, Qiu M, Zhao L.   +15 more
europepmc   +1 more source

Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon, Hugues Chabriat, Dominique Hervé, Stéphanie Guey, Sophie Tezenas Du Montcel, Juliette Ortholand   +5 more
wiley   +1 more source

Bioinformatics Analysis of Programmed Death-1-Trastuzumab Resistance Regulatory Networks in Breast Cancer Cells. [PDF]

Asian Pac J Cancer Prev
Hermawan A, Putri H.
europepmc   +1 more source