Results 81 to 90 of about 30,886 (249)

Rare but Relevant? Assessing Variants in Dystonia‐Linked Genes in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Dystonia and Parkinson's disease (PD) exhibit clinical and genetic overlap, but the relevance of dystonia gene variants in PD remains unclear. Objective The aim was to assess the frequency of dystonia‐linked pathogenic variants in PD.
Lara M. Lange, Zih‐Hua Fang, Laurel Screven, Ai Huey Tan, Roy N. Alcalay, Rim Amouri, Roberta Bovenzi, Matilda Fenn, Joshua L.I. Frost, Joseph Jankovic, Simona Jasaityte, Zane Jaunmuktane, Beomseok Jeon, Ignacio Juan Keller Sarmiento, Rejko Krüger, Gregor Kuhlenbäumer, Chin‐Hsien Lin, Lukas Pavelka, Maria Teresa Periñan, Samia Ben Sassi, Tommaso Schirinzi, Jung Hwan Shin, Joshua M. Shulman, Yi Wen Tay, Ryan Uitti, Tom Warner, Zbigniew K. Wszolek, Lesley Wu, Ruey‐Meei Wu, Kirsten E. Zeuner, Cornelis Blauwendraat, Andrew Singleton, Niccolò E. Mencacci, Huw R. Morris, Shen‐Yang Lim, Katja Lohmann, Christine Klein, the Global Parkinson's Genetics Program (GP2)   +37 more
wiley   +1 more source

Advances in neuroimaging in frontotemporal dementia [PDF]

, 2016
Frontotemporal dementia (FTD) is a clinically and neuroanatomically heterogeneous neurodegenerative disorder with multiple underlying genetic and pathological causes.
Fox, NC, Gordon, E, Rohrer, JD
core   +1 more source

White matter hyperintensities in autopsy-confirmed frontotemporal lobar degeneration and Alzheimer’s disease

Alzheimer's Research & Therapy, 2020
We aimed to systematically describe the burden and distribution of white matter hyperintensities (WMH) and investigate correlations with neuropsychiatric symptoms in pathologically proven Alzheimer’s disease (AD) and frontotemporal lobar degeneration ...
P. Desmarais, A. Gao, J. Keith, K. Lanctôt, E. Rogaeva, J. Ramirez, N. Herrmann, D. Stuss, S. Black, M. Masellis   +9 more
semanticscholar   +1 more source

Dendritic location of dystrophic neurites in FTLD‐TDP type C with annexinopathy

Brain Pathology, EarlyView.
The type C variant of FTLD‐TDP (TDP‐C) is defined by long dystrophic neurites that are immunopositive for both phosphorylated TDP and annexin A11 (ANXA11). Kawles et al. are the first paper to systematically show that these neurites are likely of dendritic origin.
Allegra Kawles, Antonia Zouridakis, Caroline Nelson, Rachel Keszycki, Grace Minogue, Alyssa Macomber, Pouya Jamshidi, Rudolph J. Castellani, Changiz Geula, Tamar Gefen, M‐Marsel Mesulam   +10 more
wiley   +1 more source

Sialylation patterns in cerebral amyloid angiopathy

Brain Pathology, EarlyView.
This study is the first to localize and evaluate sialylation modifications in the context of Alzheimer's Disease and Cerebral Amyloid Angiopathy, revealing a unique disease‐specific increase in intravascular sialylation. Abstract Glycosylation is the most common form of post‐translational modification in the brain and becomes significantly altered in ...
Caitlyn Fastenau, Rebecca Crisp, Mallory Keating, Elizabeth Ochoa, Timothy E. Richardson, Margaret E. Flanagan, Jamie M. Walker, Sarah C. Hopp, Kevin F. Bieniek   +8 more
wiley   +1 more source

Alzheimer's disease and mixed pathologies as a hidden contributor to fatal hypothermia: A large‐scale forensic autopsy‐based study

Brain Pathology, EarlyView.
We investigated neuropathological manifestations of hypothermia in 168 cases. Patients aged 65 years or more constituted 80% of the total cohort. Alzheimer's disease was the most common comorbidity, affecting 40% of all patients. Abstract There is a paucity of autopsy‐based studies providing detailed neuropathological characteristics of fatal ...
Shojiro Ichimata, Koji Yoshida, Ryo Tanaka   +2 more
wiley   +1 more source

Experimental Disease-Modifying Agents for Frontotemporal Lobar Degeneration

Journal of Experimental Pharmacology, 2021
Marcello Giunta,1 Eino Solje,2 Fabrizio Gardoni,3 Barbara Borroni,1 Alberto Benussi1 1Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy; 2Institute of Clinical Medicine - Neurology, University of ...
Giunta M, Solje E, Gardoni F, Borroni B, Benussi A   +4 more
doaj  

In vivo staging of frontotemporal lobar degeneration TDP-43 type C pathology

Alzheimer's Research & Therapy, 2020
TDP-43 type C is one of the pathological forms of frontotemporal lobar degeneration (FTLD) and mainly associated clinically with the semantic variant of primary progressive aphasia (svPPA).
M. Bocchetta, M. I. Iglesias Espinosa, T. Lashley, J. Warren, J. Rohrer   +4 more
semanticscholar   +1 more source

A complex network perspective on brain disease

Biological Reviews, EarlyView.
ABSTRACT If brain anatomy and dynamics have a complex network structure as it has become standard to posit, it is reasonable to assume that such a structure should play a key role not only in brain function but also in brain dysfunction. However, exactly how network structure is implicated in brain damage and whether at least some pathologies can be ...
David Papo, Javier M. Buldú
wiley   +1 more source

Heat shock-induced phosphorylation of TAR DNA-binding protein 43 (TDP-43) by MAPK/ERK kinase regulates TDP-43 function [PDF]

, 2017
TAR DNA-binding protein (TDP-43) is a highly conserved and essential DNA- and RNA-binding protein that controls gene expression through RNA processing, in particular, regulation of splicing.
Ayala, Yuna M, Bigio, Eileen H, Fey, Erin E, French, Rachel L, Knoverek, Catherine R, Li, Wen, Lin, Binyan, Reeb, Ashley N, Subramanian, Praveen   +8 more
core   +2 more sources