Results 241 to 250 of about 904,708 (330)

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Drone-based composite risk mapping reveals vegetation-shade interaction and housing typology as key determinants of Aedes habitat risk. [PDF]

Sci Rep
Mahfodz Z, Naba A, Isawasan P, Osman MA, Dom NC.   +4 more
europepmc   +1 more source

Baseline Regional Cholinergic Denervation Predicts Cognitive Trajectories in Moderate Parkinson Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cognitive decline is a disabling and variable feature of Parkinson disease (PD). While cholinergic system degeneration is linked to cognitive impairments in PD, most prior research reported cross‐sectional associations. We aimed to fill this gap by investigating whether baseline regional cerebral vesicular acetylcholine transporter ...
Taylor Brown, Giulia Carli, Prabesh Kanel, Stiven Roytman, Jaimie Barr, Nicolaas I. Bohnen, Roger L. Albin   +6 more
wiley   +1 more source

Reducing nitrogen with dense planting increase sweetpotato storage roots quantity via favoring starch synthesis over lignification. [PDF]

iScience
Pan H, Hai X, Guo X, Zhou X, Ahmad R, Xing H, Lin Y, Si C.   +7 more
europepmc   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Altered small dense LDL profiles in long-standing controlled type 1 diabetes. [PDF]

Front Endocrinol (Lausanne)
Sardà H, Solé A, Colom C, Borràs C, Carreras G, Benítez S, Miñambres I, Escolà-Gil JC, Sánchez-Quesada JL, Pérez A.   +9 more
europepmc   +1 more source

Large- and medium-scale traveling ionospheric disturbances over Europe induced by solar eclipse as inferred from dense GPS network data

, 2018
С. В. Панасенко, Yuichi Otsuka, Max van de Kamp, Takuya Tsugawa, Michi Nishioka   +4 more
openalex   +1 more source

Normal‐Appearing White Matter Injury Mediates Chronic Deep Venous Hypoxia and Disease Progression in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore how cerebral hypoxia and Normal‐Appearing White Matter (NAWM) integrity affect MS lesion burden and clinical course. Methods Seventy‐nine MS patients, including 13 clinically isolated syndrome (CIS) patients and 66 relapsing–remitting multiple sclerosis (RRMS) patients, and 44 healthy controls (HCs) were recruited from ...
Xinli Wang, Huiying Wang, Zhizheng Zhuo, Ai Guo, Ke Lv, Decai Tian, Chao Chai, Yunyun Duan, Shuang Xia   +8 more
wiley   +1 more source

Intelligent risk assessment and early warning for human-machine-environment coupling in coal preparation plants. [PDF]

Sci Rep
Zhao Y, Hu Y, Shi Q.
europepmc   +1 more source

The role of the particle size and distribution and its allied physical characteristics on the transportation of medium and dense phase slurries in South Africa

, 2011
Cornelius Gerardus Verkerk
openalex   +1 more source