Results 71 to 80 of about 3,624,314 (247)

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

Sex‐Stratified Association of Regional Dopamine Transporter Binding With Disease Progression in Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To clarify the clinical relevance of dopamine transporter single‐photon emission computed tomography (DAT‐SPECT) abnormalities in amyotrophic lateral sclerosis (ALS), with a prespecified focus on sex‐stratified associations with disease progression and short‐term prognosis.
Tomoya Kawazoe, Keizo Sugaya, Kentaro Hayashi, Keiko Hino, Yasuhiro Nakata, Kota Bokuda, Toshio Shimizu, Kazushi Takahashi   +7 more
wiley   +1 more source

Integrating a prospective pilot trial and patient-derived xenografts to trace metabolic changes associated with acute myeloid leukemia

Journal of Hematology & Oncology, 2016
Despite the considerable progress in understanding the molecular bases of acute myeloid leukemia (AML), new tools to link disease biology to the unpredictable patient clinical course are still needed.
Matteo G. Carrabba, Laurette Tavel, Giacomo Oliveira, Alessandra Forcina, Giacomo Quilici, Francesca Nardelli, Cristina Tresoldi, Alessandro Ambrosi, Fabio Ciceri, Massimo Bernardi, Luca Vago, Giovanna Musco   +11 more
doaj   +1 more source

Neurochemical Endpoints to Inform Early‐Stage Trials of Spinocerebellar Ataxia 2 and 3 in a Multisite Setting

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neurochemical levels measured by brain MR spectroscopy (MRS) have been proposed as endpoints for clinical trials in early‐stage spinocerebellar ataxia (SCA) trials. We tested their trial‐readiness by quantifying neurochemicals in three affected brain regions in early‐stage cohorts of SCA2 and SCA3, examining their reproducibility in ...
James M. Joers, Yaqiao Wei, Dinesh K. Deelchand, Adam Berrington, Young Woo Park, Guita Banan, Michal Povazan, Jens T. Rosenberg, André J. W. van der Kouwe, Tetsuo Ashizawa, Khalaf O. Bushara, Chiadi U. Onyike, Sub H. Subramony, Jeremy D. Schmahmann, Brian J. Soher, Peter B. Barker, Thomas H. Mareci, Eva‐Maria Ratai, Lynn E. Eberly, Gülin Öz   +19 more
wiley   +1 more source

Nuclear magnetic resonance oscillator

, 2003
The goal of this project was to apply Nuclear Magnetic Resonance principles to develop a nuclear magnetic oscillator. To reach this goal, it was necessary to first build a probe to induce and detect NMR in a sample.
Bida, Oljeta, Malik, Reem Mushtaq, Smith, Kevin Christopher, Sino, Henri   +3 more
core   +2 more sources

The potential toxic impact of different gadolinium-based contrast agents combined with 7-T MRI on isolated human lymphocytes

European Radiology Experimental, 2018
Background To investigate a potentially amplifying genotoxic or cytotoxic effect of different gadolinium-based contrast agents (GBCAs) in combination with ultra-high-field 7-T magnetic resonance imaging (MRI) exposure in separated human peripheral blood ...
Björn Friebe, Frank Godenschweger, Mahsa Fatahi, Oliver Speck, Dirk Roggenbuck, Dirk Reinhold, Annika Reddig   +6 more
doaj   +1 more source

Nuclear magnetic resonance of CTZ.

, 2018
Nuclear magnetic resonance of CTZ.
Pilar Pérez-Lozano (5136458), Enric Jo (5136461), Josep Maria Suñé-Negre (5136449), Montserrat Miñarro (5136455), Paloma Flórez Borges (5136446), Encarna García-Montoya (5136452), Albert Manich (2685970)   +6 more
core   +1 more source

Metabolic and Fluid Biomarkers Support Microglia Activation in Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Amyotrophic lateral sclerosis is an incurable neurodegenerative disease involving motor neuron degeneration and metabolic and immune dysfunction. We combined clinical data, cerebrospinal fluid biomarkers and fluorodeoxyglucose positron emission tomography with magnetic resonance imaging to investigate the role of reactive microglia in disease ...
Matteo Zanovello, Francesca Serani, Alen Bebeti, Federica Paredi, Giulia Quadrio, Andrea Fortuna, Giacomo Maria Minicuci, Elena Pegoraro, Annachiara Cagnin, Diego Cecchin, Gianni Sorarù   +10 more
wiley   +1 more source

Hybrid rf coil for nuclear magnetic resonance imaging

, 1986
A new rf coil for nuclear magnetic resonance imaging is presented. Its geometry is a hybrid between the saddle-shaped and the crossed-ellipse coil. The hybrid coil has a distributed capacitance and a proximity effect smaller than the saddle coil with the
Luzzi, M, Maraviglia, B, De Luca, F, Casieri, C, Crescenzi, A, Campanella, R, De Simone, B. C, CASIERI C., CRESCENZI A., DE LUCA F., CAMPANELLA, Renzo, MARAVIGLIA B., LUZZI M., DE SIMONE B. C.   +13 more
core   +1 more source

Dysregulated Cholesterol Metabolism, Chronic Inflammation, and Disability in Severe Progressive Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Dysregulated lipid metabolism, which can affect remyelination and neural repair, has not been extensively investigated in progressive multiple sclerosis (PMS). The goal was to examine whether dysregulated cholesterol metabolism was associated with disability in PMS. Methods The study sample comprised 53 Severe PMS patients (Expanded
Taylor R. Wicks, Mujeeb Shittu, Anna Wolska, Diala Ghazal, Bianca Weinstock‐Guttman, Alexander Burnham, Alan T. Remaley, Robert Zivadinov, Murali Ramanathan   +8 more
wiley   +1 more source