Results 161 to 170 of about 139,916 (258)

DNA extrusion size determines pathway choice during CAG repeat expansion. [PDF]

Nucleic Acids Res
Bhatia M, Phadte AS, Lakhina A, Monte Carlo Iii AR, Barndt S, Pluciennik A.   +5 more
europepmc   +1 more source

Problematic Internet Use in Frontotemporal Dementia: A Case Series

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The present study investigated problematic internet use (PIU) among 61 patients with frontotemporal dementia (FTD) compared to a cohort of 354 patients with mild cognitive impairment (MCI) and Alzheimer's dementia. PIU was identified in 22.9% of FTD patients compared to only 0.8% of AD patients (p < 0.001). Behaviors included compulsive social
Daniele Urso, Giuseppe Volpe, Agnese Valguarnera, Davide Vilella, Alessandra Vitulli, Valentina Gnoni, Alessia Giugno, Eleonora Rollo, Mark D. Griffiths, Giancarlo Logroscino   +9 more
wiley   +1 more source

Neurodegenerative disease in C9orf72 repeat expansion carriers: population risk and effect of UNC13A. [PDF]

Brain
Gao J, Douglas AGL, Chalitsios CV, Scaber J, Talbot K, Turner MR, Thompson AG.   +6 more
europepmc   +1 more source

Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar, Jeremy Johnson, Susanne Watkins, Eoin Mulroy   +3 more
wiley   +1 more source

Correction to 'DNA extrusion size determines pathway choice during CAG repeat expansion'. [PDF]

Nucleic Acids Res
europepmc   +1 more source

Progressive Proximal Muscle Weakness Due to a 51 CAG Repeat Expansion in Exon 1 of the Androgen Receptor Gene: A Case Report of Kennedy Disease. [PDF]

Am J Case Rep
Thi Tuong Vi N, Huu Thanh N, Thi Bien D, Hong Quan N.   +3 more
europepmc   +1 more source

Spatial and Volumetric Characteristics of Glioblastoma: Associations With Clinical Presentation and Survival

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to comprehensively analyze how regional tumor and edema characteristics are associated with clinical presentations and survival outcomes in a large cohort of glioblastoma patients. Methods Patients with IDH‐wildtype glioblastoma who received brain MRI from 2010 to 2023 were included.
Daniel J. Zhou, Marc Jaskir, Julian Gal, Yombe Fonkeu, Christos Davatzikos, MacLean P. Nasrallah, Jose Garcia, Rubo Xing, Stephen J. Bagley, Arati Desai, Richard E. Phillips, Steven Tobochnik, Colin A. Ellis, James J. Gugger, Nishant Sinha, Joel M. Stein, Kathryn A. Davis   +16 more
wiley   +1 more source

ASO therapy rescues NOTCH2NLC GGC repeat expansion-induced genomic damage, 3D chromatin structural abnormalities, and senescence. [PDF]

Nat Commun
Li M, Tang M, Hao X, Hu Z, Ma D, Li S, Zuo C, Wang Z, Liang Y, Feng Y, Hao C, Wang C, Li H, Yang Y, Sun Y, Qi S, Mao C, Xu Y, Wang Q, Yang, Yang R, Zhou Z, Ji P, Tan S, Zhang Z, Chen H, La Spada AR, Shi C.   +27 more
europepmc   +1 more source

A Two‐Stage Questionnaire and Actigraphy Screening for iRBD in a Multicenter Retrospective Cohort

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Isolated rapid‐eye‐movement sleep behavior disorder is a prodromal marker of synucleinopathies. However, most cases remain undiagnosed due to the insufficient predictive value of questionnaires and limited access to confirmatory video‐polysomnography. We assessed a two‐stage screening strategy combining a brief questionnaire on rapid‐
Caleb A. Massimi, Giorgio Ricciardiello Mejia, Andre Metzger, Kang Hyun Ryu, Salonee Marwaha, Eva Grzegorczyk, Li Zhou, Eliana Jacobs, Boris Gilyadov, Claudia Kunney, Liqhwa Ncube, Ankit Parekh, Emmanuel Mignot, Fanny M. Elahi, Joseph Winer, Kathleen Poston, Andreas Brink‐Kjaer, Emmanuel H. During   +17 more
wiley   +1 more source

Expanding the Genetic Landscape of <i>ATXN2</i> Variants: Insights From a Biallelic Trinucleotide Repeat Expansion in an Acadian Family. [PDF]

Neurol Genet
Saucier J, Al-Qadi M, Allain EP, Robichaud PP, Chamard-Witkowski L, Alvarez M, Dion-Côté AM, Richard L, Crapoulet N, Ben Amor M.   +9 more
europepmc   +1 more source