Results 251 to 260 of about 2,569,797 (292)

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

Improving Entanglement Resilience in Quantum Memories with Error-Detection-Based Distillation [PDF]

Hao Zheng, Gunsik Min, IlKwon Sohn, Jun Heo   +3 more
openalex   +1 more source

Prediction Model for Etiologic Differentiation of Isolated Vestibular Syndrome in Emergency Settings

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study aimed to develop and validate a predictive model for differentiating central from peripheral etiologies in patients with isolated vestibular syndrome (VS). Methods In this multicenter retrospective cohort study, 506 patients with isolated VS from five hospitals were divided into derivation (n = 301) and validation (n = 205)
Guo Wenting, Du Liping, Yang Yi, Hu Jin, Ye Bijun, Wang Jianer, Liu Shuangsi, Guo Shunyuan, Cai Xiaofeng, Wang Huiyuan, Wu Bin, Yu Xiang, Shi Tianming   +12 more
wiley   +1 more source

Accelerated Progression of Gait Impairment in Parkinson's Disease and REM Sleep Without Atonia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective People with Parkinson's disease (PD) and rapid eye movement (REM) sleep without atonia (RSWA) often have more severe gait disturbances compared to PD without RSWA. The association between the presence and expression of RSWA and the rate of progression of gait impairment in PD is unknown.
Sommer L. Amundsen‐Huffmaster, Jae Woo Chung, Maria E. Linn‐Evans, Matthew N. Petrucci, Chiahao Lu, Destiny J. Weaver, Joshua De Kam, Scott E. Cooper, Paul J. Tuite, Aleksandar Videnovic, Michael J. Howell, Colum D. MacKinnon   +11 more
wiley   +1 more source

A Statistical Model for Automatic Error Detection and Correction of Assamese Words

, 2019
M. P. Bhuyan, Shikhar Kumar Sarma
openalex   +1 more source

Impact of APOE ε4 Genotype Load on Cognitive Function and Lipid Metabolism in Patients With Cerebral Small Vessel Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Apolipoprotein ε4 (APOE ε4) is a potent genetic risk factor for Alzheimer's disease (AD). However, its role in cerebral small vessel disease (CSVD) remains unclear. Given the clinical and pathological similarities between CSVD and AD, this study aimed to investigate the associations of APOE ε4 gene dosage with cognitive function and
Tingru Jin, Haocheng Yang, Feng Liu, Sihao Lin, Junru Hu, Jian Wang, Yulan Gou   +6 more
wiley   +1 more source

Plasma Proteomic Signatures for Alzheimer's Disease: Comparable Accuracy to ATN Biomarkers and Cross‐Platform Validation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background There is growing recognition of the potential of plasma proteomics for Alzheimer's Disease (AD) risk assessment and disease characterization. However, differences between proteomics platforms introduce uncertainties regarding cross‐platform applicability.
Manyue Hu, Oliver Robinson, Christina M. Lill, Anna Matton, Raquel Puerta, Pilar Sanz, Merce Boada, Agustín Ruiz, Lefkos Middleton, for the Alzheimer's Disease Neuroimaging Initiative   +9 more
wiley   +1 more source

A systematic evaluation of the error detection abilities of a new diode transmission detector. [PDF]

J Appl Clin Med Phys, 2019
Sarkar V, Paxton A, Kunz J, Szegedi M, Nelson G, Rassiah-Szegedi P, Zhao H, Huang YJ, Su F, Salter BJ.   +9 more
europepmc   +1 more source

The MMP‐9/TIMP‐1 Ratio and Concentrations of Osteopontin Are Elevated in Cerebrospinal Fluid of People With Multiple Sclerosis and Decrease After Autologous Hematopoietic Stem Cell Transplantation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To evaluate the utility of cerebrospinal fluid (CSF) biomarkers—matrix metalloproteinase‐9 (MMP‐9), tissue inhibitor of metalloproteinases‐1 (TIMP‐1), the MMP‐9/TIMP‐1 ratio, and osteopontin (OPN)—as indicators of blood–brain barrier (BBB) integrity and disease activity in people with relapsing–remitting multiple sclerosis (pwMS ...
Ivan Pavlovic, Ida Erngren, Kim Kultima, Anders Larsson, Malin Müller, Anna Wiberg, Joachim Burman   +6 more
wiley   +1 more source