Results 101 to 110 of about 21,720 (221)

Proteostasis of organelles in aging and disease

The FEBS Journal, EarlyView.
Cells rely on regulated proteostasis mechanisms to keep their internal compartments functioning properly. When these mechanisms fail, damaged proteins accumulate, disrupting organelles, such as the nucleus, mitochondria, endoplasmic reticulum, Golgi, and lysosomes, as well as membraneless organelles, such as stress granules, processing bodies, the ...
Yara Nabawi, Cansu Doğan, Dunja Petrović, Gülce Perçin, Seda Koyuncu, David Vilchez   +5 more
wiley   +1 more source

Disease progression in C9orf72 mutation carriers [PDF]

Neurology, 2017
To assess changes in 3 clinical measures, the Revised ALS Functional Rating Scale (ALSFRS-R), letter fluency, and Frontal Behavioral Inventory (FBI), over time in C9orf72 mutation carriers (C9+) with varied clinical phenotypes.Thirty-four unrelated participants with mutations in C9orf72 were enrolled in a prospective natural history study. Participants
Mary K, Floeter, Bryan J, Traynor, Jennifer, Farren, Laura E, Braun, Michael, Tierney, Edythe A, Wiggs, Tianxia, Wu   +6 more
openaire   +2 more sources

Tremor in motor neuron disease may be central rather than peripheral in origin [PDF]

, 2018
BACKGROUND AND PURPOSE: Motor neuron disease (MND) refers to a spectrum of degenerative diseases affecting motor neurons. Recent clinical and post-mortem observations have revealed considerable variability in the phenotype.
Balint, B, Batla, A, Berardelli, A, Bhatia, K P, Ciocca, M, Latorre, A, Rocchi, L, Rothwell, J C, Sidle, K, Stamelou, M   +9 more
core   +2 more sources

Mini social cognition and emotional assessment: Diagnostic performance and neural correlates in behavioural‐variant frontotemporal dementia

Journal of Neuropsychology, EarlyView.
Abstract We aimed at validating the Mini Social Cognition and Emotional Assessment (Mini‐SEA) in a German cohort of mildly impaired behavioural‐variant frontotemporal dementia (bvFTD) patients and healthy controls. The Mini‐SEA comprises the Facial Emotion Recognition Test (FERT) and the Faux Pas Test (FPT) measuring Theory of Mind (ToM) abilities in ...
Cem Doğdu, Neeraj Upadhyay, Ingo Frommann, Luca Kleineidam, Andreas Johnen, Melina Stark, Sandra Roeske, Annika Spottke, Anna Gamez, Gabor C. Petzold, Louise Droste zu Senden, Julian Hellmann‐Regen, Stefan Hetzer, Klaus Fliessbach, Carolin Miklitz, Emrah Düzel, Falk Lüsebrink, Wenzel Glanz, Stefan Teipel, Ingo Kilimann, Josef Priller, Eike Jakob Spruth, Johannes Prudlo, David Mengel, Klaus Scheffler, Matthis Synofzik, Anja Schneider, Michael Wagner   +27 more
wiley   +1 more source

C9orf72 gene networks in the human brain correlate with cortical thickness in C9-FTD and implicate vulnerable cell types

Frontiers in Neuroscience
IntroductionA hexanucleotide repeat expansion (HRE) intronic to chromosome 9 open reading frame 72 (C9orf72) is recognized as the most common genetic cause of amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and ALS-FTD.
Iris J. Broce, Iris J. Broce, Daniel W. Sirkis, Ryan M. Nillo, Luke W. Bonham, Luke W. Bonham, Suzee E. Lee, Bruce L. Miller, Patricia A. Castruita, Virginia E. Sturm, Virginia E. Sturm, Leo S. Sugrue, Rahul S. Desikan, Jennifer S. Yokoyama, Jennifer S. Yokoyama, Jennifer S. Yokoyama   +15 more
doaj   +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  

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration [PDF]

, 2014
Mutations in the gene coding for Sequestosome 1 (SQSTM1) have been genetically associated with amyotrophic lateral sclerosis (ALS) and Paget disease of bone. In the present study, we analyzed the SQSTM1 coding sequence for mutations in an extended cohort
Alexopoulos, Panagiotis, Almeida, Maria Rosário, Archetti, Silvana, Bagnoli, Silvia, Benussi, Luisa, Binetti, Giuliano, Boada, Mercè, Bonvicini, Cristian, Borroni, Barbara, Chiang, Huei-Hsin, Clarimón, Jordi, Cras, Patrick, Cruts, Marc, De Deyn, Peter Paul, De Jonghe, Peter, De Mendonça, Alexandre, Dermaut, Bart, Deschamps, William, Diehl-Schmid, Janine, Dillen, Lubina, Dols Icardo, Oriol, Engelborghs, Sebastiaan, Fabrizi, Gian Maria, Frisoni, Giovanni B., Gelpi, Ellen, Ghidoni, Roberta, Graff, Caroline, Haack, Tobias B., Heneka, Michael, Hernández, Isabel, Jessen, Frank, Jordanova, Albena, Kovacs, Gabor G., Laureys, Annelies, Llado Plarrumani, Albert, Lleó, Alberto, Maetzler, Walter, Martin, Jean-Jacques, Matej, Radoslav, Mattheijssens, Maria, Merlin, Celine, Miltenberger-Miltényi, Gabriel, Nacmias, Benedetta, Ortega-Cubero, Sara, Padovani, Alessandro, Parobkova, Eva, Pastor, Pau, Peeters, Karin, Perneczky, Robert, Prokisch, Holger, Ramirez, Alfredo, Razquin, Cristina, Robberecht, Wim, Ruiz Laza, Agustín, Salmon, Eric, Sanchez-Valle, Raquel, Santana, Isabel, Santens, Patrick, Santiago, Beatriz, Sarafov, Stayko, Schöls, Ludger, Sieben, Anne, Simões do Couto, Frederico, Sleegers, Kristel, Smets, Katrien, Sorbi, Sandro, Strom, Tim M., Ströbel, Thomas, Synofzik, Matthis, Testi, Silvia, Thonberg, Hakan, Tournev, Ivailo, Universitat Autònoma de Barcelona. Departament de Medicina, Van Broeckhoven, Christine, Van Damme, Philip, Van Den Broeck, Marleen, Van der Zee, Julie, Van Langenhove, Tim, Vandenberghe, Rik, Vandenbulcke, Mathieu, Vom Hagen, Jennifer Müller   +80 more
core   +4 more sources

Rapid Genome and Exome Sequencing in Inpatients: Clinical Impact at a Tertiary Academic Medical Center

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1337-1346, June 2026.
ABSTRACT The objective of this study is to describe outcomes of rapid exome (rES) and rapid genome sequencing (rGS) in an inpatient setting. This is a retrospective cohort of inpatients with rES or rGS during their hospitalization between April 2016 and November 2023.
Cecilia M. Kessler, Bryce A. Schuler, Elizabeth A. Jasper, Janet Talbert, Laura Duncan, Mackenzie Mosera   +5 more
wiley   +1 more source

Gyrification abnormalities in presymptomatic c9orf72 expansion carriers [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 2019
ObjectiveTo investigate in-vivo cortical gyrification patterns measured by the local gyrification index (lGI) in presymptomatic c9orf72 expansion carriers compared with healthy controls, and investigate relationships between lGI and cortical thickness, an established morphometric measure of neurodegeneration.MethodsWe assessed cortical gyrification and
Eduardo Caverzasi, Giovanni Battistella, Stephanie A Chu, Howie Rosen, Theodore P Zanto, Anna Karydas, Wendy Shwe, Giovanni Coppola, Daniel H Geschwind, Rosa Rademakers, Bruce L Miller, Maria Luisa Gorno-Tempini, Suzee E Lee   +12 more
openaire   +4 more sources

Can ALS-associated C9orf72 repeat expansions be diagnosed on a blood DNA test alone? [PDF]

PLoS ONE, 2013
Gene mutations that preferentially affect the CNS have been implicated in a number of neurological disorders. This leads to the possibility that a disease-causing mutation present only in CNS tissues could be missed if it were tested in a blood DNA ...
Roger Pamphlett, Pak Leng Cheong, Ronald J Trent, Bing Yu   +3 more
doaj   +1 more source