Results 231 to 240 of about 509,731 (381)

The Diverse Neuromuscular Spectrum of VPS13A Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger, Evamaria Riedel, Marie Hackenberg, Alexander Mensch, Stefanie Beck‐Woedl, Joohyun Park, Tobias B. Haack, Bernhard Haslinger, Jan Kirschke, Holger Prokisch, Andreas Hermann, Christian Mawrin, Adrian Danek, Benedikt Schoser, Kevin Peikert, Marcus Deschauer, Isabell Cordts   +16 more
wiley   +1 more source

Image formation theory of optical coherence tomography with optical aberrations and its application to computational aberration correction. [PDF]

Biomed Opt Express
Makita S, Fukutake N, Zhu L, Yasuno Y.
europepmc   +1 more source

Comprehensive Screening of Gene Copy Number Aberrations in Formalin-Fixed, Paraffin-Embedded Solid Tumors Using Molecular Inversion Probe–Based Single-Nucleotide Polymorphism Array [PDF]

, 2016
Rajesh R. Singh, Meenakshi Mehrotra, Hui Chen, Alaa A. Almohammedsalim, Ayesagul Sahin, Alex Bosamra, Keyur P. Patel, Mark J. Routbort, Xinyan Lu, Ronald Abraham, Bal M. Mishra, Shumaila Virani, L. Jeffrey Medeiros, Rajyalakshmi Luthra   +13 more
openalex   +1 more source

Noninvasive detection of cancer-associated genome-wide hypomethylation and copy number aberrations by plasma DNA bisulfite sequencing

Proceedings of the National Academy of Sciences of the United States of America, 2013
K. C. Chan, P. Jiang, Carol W. M. Chan, K. Sun, J. Wong, E. Hui, S. Chan, W. Chan, D. Hui, S. Ng, H. Chan, C. Wong, B. Ma, A. Chan, P. Lai, Hao Sun, R. Chiu, Y. Lo   +17 more
semanticscholar   +1 more source

Lesion Location and Functional Connections Reveal Cognitive Impairment Networks in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cognitive impairment, fatigue, and depression are common in multiple sclerosis (MS), potentially due to disruption of regional functional connectivity caused by white matter (WM) lesions. We explored whether WM lesions functionally connected to specific brain regions contribute to these MS‐related manifestations.
Alessandro Franceschini, Paolo Preziosa, Paola Valsasina, Damiano Mistri, Monica Margoni, Federica Esposito, Massimo Filippi, Maria A. Rocca   +7 more
wiley   +1 more source

Visual Performance Correlation with Corneal Aberrometric Profile and Pupil Size After Implantation of a Trifocal Hydrophobic IOL

Clinical Ophthalmology
Camille Bosc, Eloïse Le Maléfan, Pauline Boury, Mélanie Bernier, Anne Barrucand Département de Recherche Clinique, Institut Ophtalmologique de l’Ouest (IOO) Jules Verne, Nantes, FranceCorrespondence: Camille Bosc, Département de Recherche Clinique ...
Bosc C, Le Maléfan E, Boury P, Bernier M, Barrucand A   +4 more
doaj  

Comprehensive Detection of Chromosomal and Genomic Abnormalities via Next-Generation Sequencing-Based Genomic Proximity Mapping Improves Diagnostic Classification of Hematologic Neoplasms. [PDF]

Cancers (Basel)
Chen X, Fang H, Wu Y, Meshinchi S, Naresh KN, Reister E, Langford K, Eacker SM, Liu YJ.   +8 more
europepmc   +1 more source

The Impact of Tilburg Frailty on Poststroke Fatigue in First‐Ever Stroke Patients: A Cross‐Sectional Study With Unified Measurement Tools and Improved Statistics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Poststroke fatigue (PSF) and frailty share substantial overlap in their manifestations, yet previous research has yielded conflicting results due to the use of heterogeneous frailty assessment tools. Objective To evaluate the independent impact of frailty on PSF using a unified measurement system (Tilburg Frailty Indicator, TFI ...
Chuan‐Bang Chen, Xiao‐Xue Wang, Shao‐Rui Bao, Sui‐Li Lin, Mei‐Chun Shu, Xi‐Xi Ye, Wen‐Jie Cong   +6 more
wiley   +1 more source

Using optical skyrmions to assess vectorial adaptive optics capabilities in the presence of complex aberrations. [PDF]

Sci Adv
Ma Y, Zhao Z, Shen Y, Chen B, Wang AA, Cai Y, Qin J, Zhang R, Zhang Y, Cui J, Sun B, Li J, Shi Y, Deng L, He H, Luo L, He Y, Zhang Y, Dai B, Royston DJ, Elston SJ, Morris SM, Booth MJ, He C.   +23 more
europepmc   +1 more source

Evolution of DNA methylation is linked to genetic aberrations in chronic lymphocytic leukemia.

Cancer Discovery, 2014
C. Oakes, R. Claus, Lei Gu, Y. Assenov, J. Hüllein, M. Zucknick, M. Bieg, D. Brocks, O. Bogatyrova, Christopher R. Schmidt, L. Rassenti, T. Kipps, D. Mertens, P. Lichter, H. Döhner, S. Stilgenbauer, J. Byrd, T. Zenz, C. Plass   +18 more
semanticscholar   +1 more source