Results 141 to 150 of about 93,643 (333)

Clinical profile, atrophy and inheritance patterns of pathogenic MAPT gene mutations in Frontotemporal dementia detected using whole exome sequencing: a single-center first report from India

BMC Neurology
Background/Objectives Frontotemporal Dementia (FTD) is one of the common causes of early-onset degenerative dementia and is a clinically and pathologically heterogeneous group of neurodegenerative disorders.
Subasree Ramakrishnan, Faheem Arshad, B. S. Keerthana, Susan Bosco, Arun Gokul Pon, V. H. Ganaraja, Deekshitha Madhusudhan, R. Mahima, Gautham Arunachal, Karthick Kulanthaivelu, Suvarna Alladi   +10 more
doaj   +1 more source

Distinct behavioural profiles in frontotemporal dementia and semantic dementia [PDF]

, 2001
Julie S. Snowden
openalex   +1 more source

Neurofilament light chain as a marker of peripheral nerve damage in vasculitic neuropathy? A cross‐compartmental correlation analysis in patients undergoing nerve biopsy

Brain Pathology, EarlyView.
To assess neurofilament light chain (NfL) as a biomarker of peripheral nerve damage, we correlated serumNfL concentrations with histopathological parameters from matched sural nerve biopsies. SerumNfL levels correlated with markers of acute axonal degeneration, but not with parameters reflecting chronic axonal loss.
Simon Streit, Jenny Meinhardt, Niclas Gimber, John Kestenbach, Christin Siewert, Jan Schmoranzer, Christian Meisel, Klemens Ruprecht, Frank L. Heppner, Péter Körtvélyessy, Werner Stenzel   +10 more
wiley   +1 more source

Very late-onset behavioral variant frontotemporal dementia

Dementia & Neuropsychologia
Current concepts regarding frontotemporal lobar degeneration (FTLD) have evolved rapidly in recent years. Genetically determined FTLD cohorts have broadened our knowledge pertaining to its clinical presentation, neuroimaging findings and demographics. In
Henrique Cerqueira Guimarães, Tatiana de Carvalho Espindola   +1 more
doaj   +1 more source

A Study on False Recognition in Frontotemporal Dementia [PDF]

, 2004
特集1 ...
Hasegawa Chihiro, 長谷川 千洋
core   +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

Clinical Delineation and Localization to Chromosome 9p13.3–p12 of a Unique Dominant Disorder in Four Families: Hereditary Inclusion Body Myopathy, Paget Disease of Bone, and Frontotemporal Dementia [PDF]

, 2001
Margaret J. Kovach, Brook Waggoner, Suzanne M. Leal, David A. Gelber, Romesh Khardori, Mark A. Levenstien, Christy A. Shanks, Gregory Gregg, Muhammad Al‐Lozi, Timothy M. Miller, Wojtek Rakowicz, Glenn Lopate, Juliane Florence, Guila Glosser, Zachary Simmons, John C. Morris, Michael P. Whyte, Alan Pestronk, Virginia Kimonis   +18 more
openalex   +1 more source

p97 Disease Mutations Modulate Nucleotide-Induced Conformation to Alter Protein-Protein Interactions. [PDF]

, 2016
The AAA+ ATPase p97/VCP adopts at least three conformations that depend on the binding of ADP and ATP and alter the orientation of the N-terminal protein-protein interaction (PPI) domain into up and down conformations.
Arkin, Michelle, Bulfer, Stacie, Chou, Tsui-Fen   +2 more
core  

Integrative proteomic analysis provides novel therapeutic insights for etiological subtypes of diabetes

Diabetes, Obesity and Metabolism, EarlyView.
Abstract Aims Type 2 diabetes (T2D) is a highly heterogeneous disease characterised by subtypes with variations in aetiology, disease progression, and risk of complications. However, potential drug targets for these subtypes have not been explored. This study aims to investigate potential drug targets by integrating proteomics.
Jiahe Wei, Hanzhang Wu, Ningjian Wang, Jiahao Zhu, Ranjit Mohan Anjana, Aleksandr V. Sokolov, Helgi B. Schiöth, Viswanathan Mohan, Xiao Tan   +8 more
wiley   +1 more source

Correction of Alternative Splicing of Tau in Frontotemporal Dementia and Parkinsonism Linked to Chromosome 17 [PDF]

, 2001
Bernd Kalbfuss, Stephen A. Mabon, Tom Misteli   +2 more
openalex   +1 more source