Results 91 to 100 of about 27,030 (251)

One‐step generation of heritable mitochondrial DNA multiplex‐engineered rats using DddA‐derived cytosine base editor

Animal Models and Experimental Medicine, EarlyView.
We established that mixed DdCBE microinjection is an efficient, heritable, and precise strategy for generating multiplex mtDNA mutant rats. This advancement significantly expands the utility of DdCBEs for mitochondrial disease modeling, providing a robust platform for exploring the pathogenic mechanisms of complex mtDNA mutations and developing ...
Xu Zhang, Keru Li, Lei Tan, Wei Chen, Shan Gao, Chenyang Liu, Shuo Pan, Jiayue He, Ning Liu, Gefan Wan, Wei Dong, Weining Kong, Bin Shen, Xiaolong Qi, Yuanwu Ma   +14 more
wiley   +1 more source

Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies

Epilepsia Open
Objective Genetic testing is now included in the diagnostic assessment of childhood onset epilepsies. We evaluated the yield of a targeted next generation sequencing (TNGS) panel dedicated to pediatric epilepsies.
Giulia Barcia, Nicole Chemaly, Stéphanie Gobin‐Limballe, Emma Losito, Mélodie Aubart, Eugénie Sarda, Zahra Assouline, Pauline Plante‐Bordeneuve, Marie Hully, Remi Barrois, Christine Barnerias, Doxa Sareidaki, Delphine Coste Zeitoun, Monika Eisermann, Cécile Fourrage, Sylvain Hanein, Marlène Rio, Nathalie Boddaert, Isabelle Desguerre, Anna Kaminska, Julie Steffann, Rima Nabbout   +21 more
doaj   +1 more source

Hyperacute Interleukin‐1β Production and Neutrophil Extracellular Trap Formation in the Cerebral Circulation of Stroke Patients with Large Vessel Occlusion

Annals of Neurology, EarlyView.
Acute ischemic stroke due to large vessel occlusion is associated with rapid intravascular immune activation. Analysis of arterial blood sampled distal to the thrombus during mechanical thrombectomy revealed increased extracellular adenosine triphosphate (ATP) and interleukin‐1β (IL‐1β) levels, evidence of inflammasome priming in monocytes, and ...
Justine Münsterberg, Caspar Brekenfeld, Hanna Englert, Marius Piepke, Regine J. Dress, Martin Oertel, Tina Fischer, Romy Hackbusch, Mingming Zha, Haodi Cai, Christian Casar, Ines S. Schädlich, Leo Winter, Alina Jander, Karoline Degenhardt, Maxim Bester, Fabian Flottmann, Uta Hanning, Brigitte Holst, Anna Worthman, Johanna Hiefner, Berenike Rutz, Eckhard Schlemm, Götz Thomalla, Bettina H. Clausen, Ann M. Stowe, Immo Prinz, Thiruma V. Arumugam, Markus Glatzel, Thomas Renné, Jens Fiehler, Eva Tolosa, Tim Magnus, Mathias Gelderblom   +33 more
wiley   +1 more source

Multi-spectral diffusion MRI mega-analysis in genetic generalized epilepsy: Relation to outcomes. [PDF]

Neuroimage Clin, 2023
Kreilkamp BAK, Stier C, Rauf EH, Martin P, Ethofer S, Lerche H, Kotikalapudi R, Marquetand J, Dechent P, Focke NK.   +9 more
europepmc   +1 more source

Perivascular Spaces as Determinants of Amyloid, Tau, and Vascular Biomarker Progression

Annals of Neurology, EarlyView.
Objective Magnetic resonance imaging (MRI)‐visible enlarged perivascular spaces (PVS) are markers of cerebral small vessel disease (SVD) and aging, processes implicated in both neurodegenerative and cerebrovascular pathologies. However, longitudinal positron emission tomography (PET) studies examining PVS as a mechanism underlying Alzheimer's disease ...
Audrey Low, Jeffrey L. Gunter, Mingzhao Hu, Sheelakumari Raghavan, Scott A. Przybelski, Christopher G. Schwarz, Kejal Kantarci, Val J. Lowe, Ronald C. Petersen, Jonathan Graff‐Radford, Clifford R. Jack Jr, Prashanthi Vemuri   +11 more
wiley   +1 more source

Genetic Modifiers of ABCA1 Activity Interact with APOE Isoforms to Mediate Alzheimer's Disease Risk

Annals of Neurology, EarlyView.
Objective ATP‐binding cassette transporter A1 (ABCA1) has been associated with Alzheimer's disease (AD), but the mechanisms by which it impacts disease risk are unknown. ABCA1 is known to bind apolipoprotein E (ApoE) and catalyze apolipoprotein lipidation.
Andrés Peña‐Tauber, Ricardo Hernández Arriaza, Dylan Reil, Manon Muntaner, Junyoung Park, Benjamin Grenier‐Boley, Marc Hulsman, Philippe Amouyel, Céline Bellenguez, Camille Charbonnier, Jean‐François Deleuze, Orio Dols‐Icardo, John Hardy, Henne Holstege, Gaël Nicolas, Simon Mead, Michael Wagner, Alfredo Ramirez, Rebecca Sims, John van Swieten, Julie Willams, Jean‐Charles Lambert, Chaitan Khosla, Yann Le Guen, Michael D Greicius   +24 more
wiley   +1 more source

Calgary score and modified calgary score in the differential diagnosis between syncope and genetic generalized epilepsy in children. [PDF]

Sci Rep, 2023
Köle MT, Sağer SG, Batu U, Çetiner Çine N, Çağ Y, Akin Y.   +5 more
europepmc   +1 more source

Toward a Behavioral Reserve Model in Amyotrophic Lateral Sclerosis

Annals of Neurology, EarlyView.
Objective Behavioral impairment is common in amyotrophic lateral sclerosis (ALS) and strongly affects autonomy, caregiver burden, and outcomes, yet predictors of vulnerability remain unclear. We investigated whether premorbid regulatory traits and socio‐educational exposures are associated with behavioral phenotypes in ALS within a behavioral reserve ...
Francesca Palumbo, Barbara Iazzolino, Cristina Moglia, Umberto Manera, Enrico Matteoni, Sara Cabras, Giorgio Pellegrino, Emilio Minerva, Vita Passidomo, Rosario Vasta, Gabriele Mora, Fabrizio D’Ovidio, Antonio Canosa, Andrea Calvo, Adriano Chiò   +14 more
wiley   +1 more source

Comparison of Resting-State EEG Network Analyses With and Without Parallel MRI in Genetic Generalized Epilepsy. [PDF]

Brain Topogr, 2023
van de Velden D, Stier C, Kotikalapudi R, Heide EC, Garnica-Agudelo D, Focke NK.   +5 more
europepmc   +1 more source

Blood SOD1 Activity in ALS Patients Receiving Tofersen Treatment

Annals of Neurology, EarlyView.
Objective The antisense oligonucleotide tofersen is the first disease‐modifying drug for SOD1‐related amyotrophic lateral sclerosis (ALS) and was approved because of its ability to reduce SOD1 protein and neurofilament levels. The effect of tofersen on SOD1 activity is unclear but of clinical relevance because homozygous SOD1 mutations, linked to ...
Katharina Goehring, Enya Abler, Jakub Vavra, Kristina Mayer, Johannes Dorst, Zeynep Elmas, Maximilian Wiesenfarth, Lars Richter, Susanne Petri, Martin Regensburger, Peter Reilich, Bogdan Bjelica, Rea Lumi, Patrick Süß, Hayrettin Tumani, Markus Otto, Jochen H. Weishaupt, Albert C. Ludolph, Patrick Oeckl   +18 more
wiley   +1 more source