Results 171 to 180 of about 387,641 (271)

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

Health-Related Quality of Life in Previous Versus Current Opiate Users Receiving HCV Therapy: Registry-Based Evidence. [PDF]

Brain Sci
Specka M, Christensen S, Buggisch P, Heyne R, Naumann U, Klinker H, Link R, Schmidt CS, Schulte B, Reimer J, Schifano F, Wedemeyer H, Scherbaum N.   +12 more
europepmc   +1 more source

Vestibular Patient Journey: Insights From Vestibular Disorders Association (VeDA) Registry

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Vestibular symptoms impose a high burden of disability. Understanding real‐world diagnostic and treatment pathways can identify care gaps and guide interventions. We aimed to characterize symptom profiles, diagnostic trends, provider involvement, and treatment patterns in vestibular disorders.
Ali Rafati, Sami I. Nassar, Shaun A. Nguyen, Patricia L. Gerend, Michael C. Schubert, Michael T. Teixido, Frederick A. Godley, Joel A. Goebel, Cynthia A. Ryan, Habib G. Rizk, Amir Kheradmand   +10 more
wiley   +1 more source

Correction: Caloric Restriction Attenuated Nerve Damages Mediated Through SIRT-1-a Study Using Nerve Crush Injury Model in Rats. [PDF]

Mol Neurobiol
Sheu ML, Pan LY, Pan SY, Chen YJ, Sheehan J, You WC, Wang CC, Pan HC.   +7 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

Jumping to conclusions and social behavior in individuals diagnosed with schizophrenia. [PDF]

Schizophr Res Cogn
Hayashi R, Takahama Y, Inadomi H, Ishii R, Watanabe S, Yoshida K, Okada H, Yoshimura M.   +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

Determining the relative importance of risk and protective factors for adjustment disorder symptoms during the COVID-19 pandemic by mixed-effects random forests. [PDF]

Psychol Med
Lotzin A, Finne E, Schildbach G, Acquarini E, Ajdukovic D, Ajdukovic M, Anastassiou-Hadjicharalambous X, Ardino V, Hensler I, Arnberg FK, Böttche M, Dragan M, Figueiredo-Braga M, Gelezelyte O, Grajewski P, Groen S, van Hoof MJ, Javakhishvili JD, Kazlauskas E, Lioupi C, Lueger-Schuster B, Sales L, Tsiskarishvili L, Zrnic Novakovic I, Schäfer I, ADJUST Study Consortium.   +25 more
europepmc   +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

Beyond the Label: Psychometric Validation of the Persian Stigma and Self-Stigma Scales: A Methodological Study. [PDF]

Health Sci Rep
Tehrani H, Jafari A, Nejatian M, Gholamzadeh M, Naddafi F.   +4 more
europepmc   +1 more source