Results 101 to 110 of about 617,994 (259)

Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adrenoleukodystrophy is a rare inherited peroxisomal disease caused by pathogenic variants in the ABCD1 gene located on the X chromosome. Although the most severe central nervous system and adrenal complications typically affect only men with adrenoleukodystrophy, the majority of women develop myeloneuropathy symptoms in adulthood.
Chenwei Yan, Elizabeth I. Pierpont, Amena S. Fine, Reena V. Kartha   +3 more
wiley   +1 more source

CX3CL1 in Early Detection of Alzheimer's Disease: Plasma Dynamics Across Age and Disease Stages

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Backgrounds Alzheimer's disease (AD) is characterized by amyloid‐beta plaques, tau tangles, and neuroinflammation. C‐X3‐C motif chemokine ligand 1 (CX3CL1, also known as fractalkine), a neuroimmune chemokine implicated in AD pathogenesis, shows inconsistent alterations in plasma/serum across studies.
Ling Wang, Yujie Liu, Fei Li, Xuelin Li, Lanlan Li, Jie Zhang, Yali Xu   +6 more
wiley   +1 more source

Window

Emic
Greta Reichenbach aims to create work that comforts those who have experienced hate for their sex & gender identity. Friendships with other women and the safety felt with them in the face of misogyny is what guided this drawing. Water and windows are both reflective and transparent- one can see aspects of themselves while looking through at someone
Greta Reichenbach, Oskar Garcia, Del Halter, Anna Blanco, Dylan Speicher, Katelin Henry   +5 more
openaire   +1 more source

Fluid Biomarkers of Disease Burden and Cognitive Dysfunction in Progressive Supranuclear Palsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Identifying objective biomarkers for progressive supranuclear palsy (PSP) is crucial to improving diagnosis and establishing clinical trial and treatment endpoints. This study evaluated fluid biomarkers in PSP versus controls and their associations with regional 18F‐PI‐2620 tau‐PET, clinical, and cognitive outcomes.
Roxane Dilcher, Charles B. Malpas, Stuart J. McDonald, William T. O’Brien, Craig Despott, Kelly L. Bertram, Matthew P. Pase, Lukas Frontzkowski, Meng Law, Terence J. O’Brien, Lucy Vivash   +10 more
wiley   +1 more source

TBK1‐Associated Primary Lateral Sclerosis Followed by Right Temporal Variant Frontotemporal Dementia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We report a 58‐year‐old woman with a novel splice‐site variant in the TANK‐binding kinase 1 (TBK1:c.993–2A>C p.Ala332TyrfsTer39) who sequentially developed primary lateral sclerosis (PLS) followed by right temporal variant frontotemporal dementia (rtvFTD). Neuroimaging demonstrated right anterior temporal atrophy before cognitive symptoms, and
Tomoyasu Matsubara, Naoki Kihara, Satoko Miyatake, Koji Fujita, Konoka Tachibana, Ryosuke Miyamoto, Hiroki Yamazaki, Yusuke Osaki, Nazere Keyoumu, Yuki Kuwano, Nobutoshi Morimoto, Suzuran Saito, Eriko Koshimizu, Yoichi Otomi, Kenji Ishibashi, Masafumi Harada, Naomichi Matsumoto, Hiroyuki Morino, Yuishin Izumi   +18 more
wiley   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24‐Month Follow‐Up From the Italian Registry

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane, Giorgia Coratti, Chiara Cutrì, Antonio Varone, Riccardo Masson, Adele D'Amico, Valeria Sansone, Sonia Messina, Federica Ricci, Chiara Ticci, Claudio Bruno, Caterina Agosto, Francesca Benedetti, Antonella Pini, Sabrina Siliquini, Massimiliano Filosto, Alberto Zambon, Ilaria Bitetti, Maria Rosaria Manna, Claudia Dosi, Riccardo Zanin, Stefano Parravicini, Roberto De Sanctis, Giulia Stanca, Michela Catteruccia, Michele Tosi, Irene Mizzoni, Emilio Albamonte, Valentina Franchino, Maria Sframeli, Ilaria Cavallina, Elena Procopio, Michele Sacchini, Simone Morando, Noemi Brolatti, Federica Trucco, Gaia Scarpini, Elena Briganti, Beatrice Berti, Concetta Palermo, Daniela Leone, Stefano C. Previtali, Eugenio Mercuri, the ITASMAC working group   +43 more
wiley   +1 more source

Reperfusion‐Dependent Outcomes After Endovascular Thrombectomy Stratified by NIHSS‐ASPECTS Clinical‐Core Mismatch

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This analysis evaluates the effect of successful reperfusion on functional outcomes after MT, stratified by admission National Institutes of Health Stroke Scale (NIHSS) and Alberta Stroke Program Early CT Score (ASPECTS) as surrogates for clinical‐core mismatch, using multicenter registry data.
Felix Schlicht, Lukas Meyer, Gabriel Broocks, Matthias Bechstein, Christian Thaler, Christian Heitkamp, Laurens Winkelmeier, Vincent Geest, Alexander Heitkamp, Maximilian Jungnitz, Gregor Peter, Luca Meucci, Tobias Faizy, Jawed Nawabi, Caspar Brekenfeld, Fabian Flottmann, Maximilian Schell, Alexandros Hadjilaou, Uta Hanning, Götz Thomalla, Jens Fiehler, Susanne Gellißen, Helge C. Kniep, for the German Stroke Registry Endovascular Treatment, (GSR‐ET) Alexander Nave, Anna Alegiani, Annerose Mengel, Arno Reich, Bernd Eckert, Charlotte Pietrock, Christian Nolte, Eberhard Siebert, Fabian Flottmann, Fee Keil, Franziska Dorn, Gabor Petzold, Götz Thomalla, Hanna Zimmermann, Jan Borggrefe, Jan Hendrik Schäfer, Jens Fiehler, Joachim Röther, Klaus Gröschel, Lars Kellert, Mario Abruscato, Maximilian Schell, Omid Nikoubashman, Peter Schellinger, Silke Wunderlich, Steffen Tiedt, Sven Thonke, Timo Uphaus, Tobias Boeckh‐Behrens, Ulrike Ernemann   +53 more
wiley   +1 more source

CSF Monoamine Metabolites and Cognitive Trajectory in Early Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Imaging and postmortem studies indicate that abnormalities in monoaminergic neurotransmission contribute to cognitive impairment in Parkinson's disease (PD). However, it remains uncertain if cerebrospinal fluid (CSF) monoamine metabolites can serve as biomarkers of cognitive decline in early PD.
Jing‐Yu Shao, Rong Li, Yu‐Xiang Jiao, Kai Ma, Hong‐Qi Yang, Zheng‐Yu Sun, Jie‐Wen Zhang, Shuai Chen   +7 more
wiley   +1 more source

Evaluation of a novel EHR sidecar application to display RA clinical outcomes during clinic visits: results of a stepped‐wedge cluster randomized pragmatic trial

Arthritis Care &Research, Accepted Article.
Objective We developed a novel EHR sidecar application to visualize key rheumatoid arthritis (RA) outcomes, including disease activity, physical function, and pain, via a patient‐facing graphical interface designed for use during outpatient visits (“RA PRO dashboard”).
Gabriela Schmajuk, Jing Li, Cathy Nasrallah, Cherish Wilson, Alicia Hamblin, Christine Hariz, Cammie Young, Stephen Shiboski, Emma Kersey, Mary Nakamura, Judith F. Ashouri, Mehrdad Matloubian, Andrew J. Gross, Jennifer Barton, Beth Berrean, Jonathan Prugh, Jinoos Yazdany   +16 more
wiley   +1 more source