Results 151 to 160 of about 240,865 (343)

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

Probabilistic classification of late treatment failure in uncomplicated falciparum malaria. [PDF]

Nat Commun
Mehra S, Taylor AR, Imwong M, White NJ, Watson JA.   +4 more
europepmc   +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

Enabling whole genome sequencing analysis from FFPE specimens in clinical oncology. [PDF]

Nat Commun
Domenico D, Gundem G, Levine MF, Arango-Ossa JE, Robbe P, Asimomitis G, Cobbs C, Stockfisch E, O'Donohue T, Brierley C, Senz J, Cochrane D, Mohibullah N, Bhanot U, Silber J, Shukla N, Shah SP, Weigelt B, Zivanovic O, McPherson A, Schuh A, Kung AL, Papaemmanuil E.   +22 more
europepmc   +1 more source

The McCance Brain Care Score and Mortality: Evidence From a Large‐Scale Population‐Based Cohort

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives This study aimed to examine the relationship between the McCance Brain Care Score (BCS) and mortality in the general population. Methods We conducted a prospective, population‐based cohort study using data from the UK Biobank. Participants with complete data enabling calculation of BCS and full mortality information were included ...
Zhiqiang Xu, Xiaoxiao Wang, Nan Li
wiley   +1 more source

Ligand discrimination in immune cells: Signal processing insights into immune dysfunction in ER+ breast cancer. [PDF]

PLoS Comput Biol
Matache A, Lima-Junior JR, Kuznetsov M, Urbaniak K, Branciamore S, Rodin AS, Lee PP, Rockne RC.   +7 more
europepmc   +1 more source

Clone detection in student programs based on lexical analysis of source codes

, 2020
Ольга Николаевна Половикова, Violeta Ivanova   +1 more
openalex   +1 more source

Prediction of Myasthenia Gravis Worsening: A Machine Learning Algorithm Using Wearables and Patient‐Reported Measures

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Myasthenia gravis (MG) is a rare disorder characterized by fluctuating muscle weakness with potential life‐threatening crises. Timely interventions may be delayed by limited access to care and fragmented documentation. Our objective was to develop predictive algorithms for MG deterioration using multimodal telemedicine data ...
Maike Stein, Haoqi Sun, Sophie Lehnerer, Lea Gerischer, Maximilian Mönch, Christian Meisel, Andreas Meisel, Pushpa Narayanaswami   +7 more
wiley   +1 more source

QuiCAT: a scalable and flexible framework for mapping synthetic sequences. [PDF]

Bioinformatics
Lucarelli D, Kos T, Shull C, Jiménez S, Öllinger R, Rad R, Saur D, Theis FJ.   +7 more
europepmc   +1 more source

Implementation of HTSCCDUToLiA (Hybrid Technique for Software Cloning Code Detection using Token and Line based Approach)

, 2018
Sheetal Kataria, Rimmy Chuchra
openalex   +1 more source