Results 71 to 80 of about 34,227 (264)

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

Tele-intervention for adults with tinnitus in Ghana, a low- and middle-income country: a feasibility study

The Egyptian Journal of Otolaryngology
Background Tinnitus may be associated with anxiety and depression which can affect quality of life. In low- and middle-income countries like Ghana, a shortage of specialized clinicians suggests online interventions could alleviate clinician caseloads ...
Joseph Omane Boateng, Maggi Soer, Leigh Biagio de Jager   +2 more
doaj   +1 more source

Early detection of communication delays with the PEDS tools in at-risk South African infants

African Journal of Disability, 2016
Background: Prevalence of communication delays or disorders is increasing, possibly because of various environmental risk factors. Selection and implementation of effective screening tools are important to detect at-risk infants as early as possible ...
Jeannie van der Linde, De Wet Swanepoel, Linique Hanekom, Tasha Lemmer, Karla Schoeman, Frances P. Glascoe, Bart Vinck   +6 more
doaj   +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

Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang, Brian S. Gloss, Jessica P. Hayes, Andrew J. A. Holland, Manoj P. Menezes, Joceline A. Branson, Shekeeb S. Mohammad, Jingya J. Yan, Shrujna Patel, Velda X. Han, Russell C. Dale   +10 more
wiley   +1 more source

Von Economo Neuron Loss in Frontotemporal Dementia: A Meta‐Analysis of Neuropathological Studies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Von Economo neurons (VENs) have been reported to be vulnerable to neurodegeneration in frontotemporal dementia (FTD), particularly the behavioral variant (bvFTD), but these findings have not been systematically assessed across independent brain banks.
Daniel Talmasov, Alexander F. Santillo, Patrick R. Hof   +2 more
wiley   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

CSF Monoamine Metabolites and Cognitive Trajectory in Early Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Imaging and postmortem studies indicate that abnormalities in monoaminergic neurotransmission contribute to cognitive impairment in Parkinson's disease (PD). However, it remains uncertain if cerebrospinal fluid (CSF) monoamine metabolites can serve as biomarkers of cognitive decline in early PD.
Jing‐Yu Shao, Rong Li, Yu‐Xiang Jiao, Kai Ma, Hong‐Qi Yang, Zheng‐Yu Sun, Jie‐Wen Zhang, Shuai Chen   +7 more
wiley   +1 more source

Physician Referral Patterns to Physical Therapists for Managing Knee Osteoarthritis: A Retrospective Analysis of Electronic Health Records From an Integrated Health System

Arthritis Care &Research, EarlyView.
Objective This study aims to describe the frequency and timing of physician referrals to physical therapists (PTs) and other treatments prescribed over 12 months in patients with recent onset of knee osteoarthritis (KOA). The study also aims to identify determinants of early PT referrals.
Samannaaz S. Khoja, Joel M. Stevans, Gustavo J. Almeida, Clair Smith, Janet K. Freburger   +4 more
wiley   +1 more source

Stuttering: the nature of the speech disruptions—a multimodal study of articulation and phonation

Frontiers in Human Neuroscience
Stuttering is a disorder characterized by transient disruptions in speech motor production. This article is focused on the characteristics of stuttering and the immediate vocal tract mechanisms resulting in stuttered speech disruptions.
Per A. Alm, Therése Brösemyr, Sofie Grinde, Sara Johansson, Jessica Karlsson, Gustav Nordgren, Ronja Olsson, Frida Rocksten, Maria Sandsten, Ingrid Sör, Denise White   +10 more
doaj   +1 more source