Results 211 to 220 of about 1,575,467 (294)

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

Online multidisciplinary discussion on interstitial lung disease: Using new technologies to connect general hospitals to expert units. [PDF]

Sarcoidosis Vasc Diffuse Lung Dis
Francesqui J, Benegas M, Laserna E, Valera L, Cuerpo S, Hernández-González F, Serrano M, Sánchez M, Sellares J.   +8 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

Engagement of coMmunity through Participatory learning and action for cOntrol and preVEntion of Type 2 Diabetes and its Risk factors (EMPOWER-D): protocol for a feasibility cluster randomised controlled trial in urban Pakistan. [PDF]

Pilot Feasibility Stud
Imtiaz S, Zafar R, Tahir A, Abdeali M, Ahmed F, Mansoor A, Khan A, Fawwad A, Basit A, Walker S, Afaq S, Rehman K, Khan Z, Kanaan M, Jennings HM, Shahab AR, Siddiqi K, Haq ZU.   +17 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

Experiences of conducting effective Patient and Public Involvement and Engagement (PPIE) by the WILL Trial (When to Induce Labour to Limit risk in pregnancy hypertension) management team. [PDF]

Trials
Kirkham K, Tohill S, Wade J, Stubbs C, von Dadelszen P, Richards A, Jukes EM, Magee LA, WILL Study Group.   +8 more
europepmc   +1 more source

A Prospective Study of Individuals at Risk of Multiple Sclerosis Informs the Design of Primary Prevention Studies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective In multiple sclerosis, the optimal time for deploying a therapeutic intervention is before the central nervous system is damaged; given the success of trials treating the earliest stage of MS, the radiologically isolated syndrome, developing primary prevention strategies is an important next challenge.
Amy W. Laitinen, Ceren Tozlu, Tina Roostaei, Fatoumata Diallo, Kaho Onomichi, Jiyeon Son, Zongqi Xia, Philip L. De Jager   +7 more
wiley   +1 more source

Association of treatment decision with personality, coping strategies and impulsivity in patients with multiple sclerosis. [PDF]

Mult Scler J Exp Transl Clin
Nolte JP, Föttinger F, Krajnc N, Ponleitner M, Leutmezer F, Monschein T, Rommer PS, Schmied C, Kornek B, Zrzavy T, Zulehner G, Berger T, Bsteh G.   +12 more
europepmc   +1 more source

FDG‐PET Associations With Disease Severity and Outcomes in NMDA‐Receptor IgG Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Patients with N‐methyl‐D‐aspartate (NMDA) receptor‐immunoglobulin G (IgG) autoimmune encephalitis (NMDAR‐IgG AE) demonstrate occipital lobe hypometabolism on baseline brain fluorodeoxyglucose‐positron emission tomography (bFDG‐PET).
Jonathan K. Lee, Jeffrey Lambe, Scott Johnson, Akua Abrah, Jennifer Bullen, Jeffrey A. Cohen, Tatchaporn Ongphichetmetha, Amy Kunchok   +7 more
wiley   +1 more source

Building peer information exchange networks to improve child and adolescent TB care in Sub-Saharan Africa. [PDF]

Public Health Action
Mande R, Berger SD, Moore B, Thekkur P, Dongo JP, Doyle J, Harris J, Graham SM, Dlodlo RA.   +8 more
europepmc   +1 more source