Results 211 to 220 of about 791,856 (290)

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

Linear Accelerator-Based Stereotactic Radiosurgery (SRS) for Arteriovenous Malformation (AVM) With Functional Magnetic Resonance Imaging (fMRI) Brain Mapping for Toxic Avoidance. [PDF]

Cureus
Abdullah JM, Appalanaido GK, Sapiai NA, Omar H, Abdullah R, Jalil J, Abd Hamid AI.   +6 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

Digital instrument simulator to optimize the development of hyperspectral systems: application for intraoperative functional brain mapping. [PDF]

J Biomed Opt
Caredda C, Lange F, Giannoni L, Ezhov I, Picart T, Guyotat J, Tachtsidis I, Montcel B.   +7 more
europepmc   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

A comparison of fMRI presurgical mapping techniques with intraoperative brain mapping-based validation. [PDF]

Imaging Neurosci (Camb)
Radwan AM, Emsell L, Vansteelandt K, Cleeren E, Peeters R, De Vleeschouwer S, Theys T, Dupont P, Sunaert S.   +8 more
europepmc   +1 more source

Efficacy of Intermittent Theta‐Burst Stimulation for Prolonged Disorders of Consciousness: A Prospective, Randomized, Controlled Trial

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Emerging evidence suggests that low‐frequency neural oscillations are dynamically regulated by consciousness levels, with the recovery of low cortical activity potentially serving as a neurophysiological substrate for conscious emergence. Targeted enhancement of these low‐frequency rhythms in patients with disorders of consciousness
Chuan Xu, Jun Hu, Qianqian Wu, Min Wu, Yamei Yu, Hangcheng Li, Jian Gao, Jingqi Li, Nai Ding, Jie Yu, Benyan Luo   +10 more
wiley   +1 more source

IsoVISoR: Towards 3D Mesoscale Brain Mapping of Large Mammals at Isotropic Sub-micron Resolution. [PDF]

Neurosci Bull
Yang CY, Shen Y, Qi X, Ding L, Xiao Y, Zhu Q, Wang H, Xu C, Lau PM, Zhou P, Xu F, Bi GQ.   +11 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

Ultra high density imaging arrays in diffuse optical tomography for human brain mapping improve image quality and decoding performance. [PDF]

Sci Rep
Markow ZE, Trobaugh JW, Richter EJ, Tripathy K, Rafferty SM, Svoboda AM, Schroeder ML, Burns-Yocum TM, Bergonzi KM, Chevillet MA, Mugler EM, Eggebrecht AT, Culver JP.   +12 more
europepmc   +1 more source