Results 101 to 110 of about 483,484 (261)

[18F]Fluorodeprenyl‐D2 PET as a Tool to Monitor Disease Activity in GAD65‐Ab Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate [18F]fluorodeprenyl‐D2 ([18F]F‐DED) positron‐emission tomography (PET) imaging as a biomarker of disease activity in autoimmune encephalitis (AIE) associated with glutamic acid decarboxylase 65 (GAD65) antibodies. Methods [18F]F‐DED PET was performed in 25 GAD65‐AIE patients and 8 controls using dynamic (0–60 min) and ...
Julia S. Dorneich, Jonathan A. Gernert, Hanna Zimmermann, Lisa Tagnin, Marianthi Zeinaki, Laura Sanzo, Letizia Vogler, Elisabeth Kaufmann, Justina Dargvainiene, Frank Leypoldt, Gérard N. Bischof, Robert Perneczky, Boris‐Stephan Rauchmann, Simon Lindner, Günter U. Höglinger, Rudolf A. Werner, Martin Kerschensteiner, Tania Kümpfel, Matthias Brendel, Franziska S. Thaler   +19 more
wiley   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Longitudinal Assessment of Biomarkers in ALS: Discriminative Biomarkers for Disease Progression and Survival

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To assess the association and discriminative performance of serum biomarkers with clinical disease progression and survival in patients with amyotrophic lateral sclerosis (ALS). Methods This retrospective study, conducted at Houston Methodist Hospital, Houston, TX, used longitudinal serum samples collected between January 2018 and ...
David R. Beers, Yueh‐Yun Lin, Jason R. Thonhoff, Aaron D. Thome, Alireza Faridar, Weihua Zhao, Shixiang Wen, Stanley H. Appel   +7 more
wiley   +1 more source

Stem Cell Transplantation in Friedreich Ataxia: Cure for Leukemia but No Effect on Neurological Progression

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Friedreich Ataxia (FRDA) is a neurodegenerative disorder of children and young adults associated with cardiomyopathy and other systemic complications. We report a 10‐year‐old girl who presented simultaneously with Acute Myelogenous Leukemia and FRDA who was successfully treated for her leukemia with allogeneic hematopoietic stem cell ...
Alexandra Gitman, Niyati Bhandari, Maria Castellaro, Kim Schadt, María Cancio, David R. Lynch   +5 more
wiley   +1 more source

Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova, Jan Smeitink, Herma Renkema, Rosabeth White, Frankie Barton, Rachel Lyon, Jane Newman, Aye Moe, Yi Shiau Ng, Grainne Siobhan Gorman   +9 more
wiley   +1 more source

Blood RNA Biomarker Signatures for Early Diagnosis and Prognosis in Ischemic and Hemorrhagic Stroke: The IBIS‐CT1 Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate the expression of nine blood RNA biomarkers in a clinical trial based on genes previously identified in an experimental monkey model of stroke for diagnosis feasibility and prognostication. Methods IBIS‐CT1 was a prospective longitudinal study enrolling patients with ischemic stroke (IS) or intracerebral hemorrhage (ICH ...
Salomé Retailleau, Marie Bruguet, Irina Viakhireva‐Dovganyuk, François‐Mathias Merrien, Denis Marechal, Aurore Jourdain, Philippe Goas, Jordan Coris, Julien Asselineau, Maëlys Consigny, Gérald Le Gac, Serge Timsit   +11 more
wiley   +1 more source

Neurologic Manifestations of Long COVID Affect Adult Females More Severely Than Males

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize differences in neurologic manifestations of postacute sequelae of SARS‐CoV‐2 infection (Neuro‐PASC) between females and males. Methods Cross‐sectional study of the first consecutive 261 posthospitalization Neuro‐PASC (PNP) and 2068 nonhospitalized Neuro‐PASC (NNP) patients evaluated at the Neuro‐COVID clinic between ...
Hannah Kopinsky, Melissa Lopez, Janet Miller, Millenia Jimenez, Eric M. Liotta, Igor J. Koralnik   +5 more
wiley   +1 more source

Ophthalmological signs and sensorimotor evaluation in mitochondrial chronic progressive external ophthalmoplegia: a multidisciplinary prospective study

BMC Ophthalmology
Background Primary mitochondrial myopathies (PMM) are disorders that involve defects in oxidative phosphorylation (OXPHOS) and impair mainly, but not exclusively, skeletal muscles.
Gustavo Savino, Federico Giannuzzi, Valentina Cima, Davide Brando, Claudia Fossataro, Serenella Servidei, Maria Cristina Savastano, Guido Primiano   +7 more
doaj   +1 more source

Quantitative MRI Uncovers Subtle Cortical Damage in Myelin Oligodendrocyte Glycoprotein Antibody‐Associated Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine whether myelin‐sensitive quantitative MRI reveals microstructural abnormalities in normal‐appearing cortex (NACtx) in myelin oligodendrocyte glycoprotein antibody–associated disease (MOGAD), indicating that conventional MRI underestimates remission residual cortical injury.
Valentina Camera, Agnese Tamanti, Silvia Messina, Nicola Dall'Osto, Teresa Maltempo, Stefano Ziccardi, Matteo Foschi, Maria Grazia Piscaglia, Diana Ferraro, Francesco Crescenzo, Francesca Rossi, Albulena Bajrami, Sabrina Marangoni, Damiano Marastoni, Francesca Benedetta Pizzini, Maria Isabel Leite, Roberta Magliozzi, Patrick Waters, Massimiliano Calabrese, Jacqueline Palace, Ruth Geraldes   +20 more
wiley   +1 more source

Targeting DNM1L/DRP1-FIS1 axis inhibits high-grade glioma progression by impeding mitochondrial respiratory cristae remodeling

Journal of Experimental & Clinical Cancer Research
Background The dynamics of mitochondrial respiratory cristae (MRC) and its impact on oxidative phosphorylation (OXPHOS) play a crucial role in driving the progression of high-grade glioma (HGG). However, the underlying mechanism remains unclear.
Xiaodong Li, Jingjing Tie, Yuze Sun, Chengrong Gong, Shizhou Deng, Xiyu Chen, Shujiao Li, Yaoliang Wang, Zhenhua Wang, Feifei Wu, Hui Liu, Yousheng Wu, Guopeng Zhang, Qingdong Guo, Yanling Yang, Yayun Wang   +15 more
doaj   +1 more source