Results 241 to 250 of about 2,115,171 (296)

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas, Cristina Domínguez‐González, Daniel Natera‐de Benito, Solange Kapetanovic, Aurelio Hernández‐Laín, Berta Estévez‐Arias, Laura Llansó, Carlos Ortez, Cristina Jou, Itxaso Martí‐Carrera, Arístides López‐Márquez, Maria José Rodríguez, Laura González‐Mera, Velina Nedkova, Roberto Fernández‐Torrón, Benjamín Rodríguez‐Santiago, Cecília Jimenez‐Mallebrera, Raul Juntas‐Morales, Adolfo López‐de Munain, Jordi Surrallés, Andrés Nascimento, Eduard Gallardo, Montse Olivé, Pia Gallano, Lidia González‐Quereda   +24 more
wiley   +1 more source

Brain Characteristics in Patients With Myelin Oligodendrocyte Glycoprotein Antibody‐Associated Disorder by 7.0 Tesla MRI

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Myelin oligodendrocyte glycoprotein antibody‐associated disease (MOGAD) can radiographically mimic multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD). The disease hallmarks cortical lesion, central vein sign (CVS) and paramagnetic rim lesions identified in MS have not yet been comprehensively investigated in ...
Lei Su, Joseph Kuchling, Chenyang Gao, Thoralf Niendorf, Carsten Finke, Zhe Zhang, Ai Guo, Jing Jing, De‐Cai Tian, Yu‐Jing Li, Mengting Zhang, Xiaoyu Shi, Xinyao Liu, Huabing Wang, Yaou Liu, Claudia Chien, Michael Levy, Yunyun Duan, Friedemann Paul, Fu‐Dong Shi   +19 more
wiley   +1 more source

Enhanced colon-targeted drug delivery through development of 5-fluorouracil-loaded cross-linked mastic gum nanoparticles. [PDF]

Sci Rep
Hani U, Mahammed N, Reshma T, Talath S, Wali AF, Aljasser A, Al Fatease A, Alamri AH, Khan S.   +8 more
europepmc   +1 more source

Actionable Wearables Data for the Neurology Clinic: A Proof‐of‐Concept Tool

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Wearable devices can monitor key health and fitness domains. In multiple sclerosis (MS), monitoring step count and sleep is feasible, valid, and offers a holistic glimpse of patient functioning and worsening. However, data generated from wearables are typically unavailable at the point of care.
Nicolette Miller, Ebenezer Chinedu‐Eneh, Jaeleene Wijangco, Kyra Henderson, Nikki Sisodia, Narender Sara, Jennifer Reihm, Shane Poole, Jim Rowson, Chu‐Yueh Guo, Jeffrey M. Gelfand, Valerie J. Block, Riley Bove   +12 more
wiley   +1 more source

EEG Response to Sedation Interruption Complements Behavioral Assessment After Severe Brain Injury

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Accurate assessment of the level of consciousness and potential to recover in patients with severe brain injury underpins crucial decisions in the intensive care unit but remains a major challenge for the clinical team. The neurological wake‐up test is a widely used assessment tool. However, many patients' behavioral responses during
Charlotte Maschke, Loretta Norton, Catherine Duclos, Miriam Han, Kira Dolhan, Geoffrey Laforge, Allison Frantz, Xiaoyu Wang, Hassan Al‐Hayawi, Tianyu Zhang, Raphaël Lavoie, Adrian M. Owen, Stefanie Blain‐Moraes   +12 more
wiley   +1 more source

Pulse Pressure, White Matter Hyperintensities, and Cognition: Mediating Effects Across the Adult Lifespan

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate whether pulse pressure or mean arterial pressure mediates the relationship between age and white matter hyperintensity load and to examine the mediating effect of white matter hyperintensities on cognition. Methods Demographic information, blood pressure, current medication lists, and Montreal Cognitive Assessment ...
Jade Hannan, Sarah Newman‐Norlund, Natalie Busby, Sarah C. Wilson, Roger Newman‐Norlund, Chris Rorden, Julius Fridriksson, Leonardo Bonilha, Nicholas Riccardi   +8 more
wiley   +1 more source

Investigating fecal microbiota transplants from individuals with anorexia nervosa in antibiotic-treated mice using a cross-over study design. [PDF]

J Eat Disord
Maschek S, Østergaard TH, Krych L, Zachariassen LF, Sørensen DB, Junker Mentzel CM, Hansen AK, Sjögren JM, Barfod KK.   +8 more
europepmc   +1 more source

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte, Berta Estévez‐Arias, Leslie Matalonga, Delia Yubero, Anna Codina, Carlos Ortez, Julita Medina, Lidia DeSena DeCabo, Laura Carrera‐García, Jesica Expósito‐Escudero, Cristina Jou, Eduardo F. Tizzano, Andres Nascimento, Daniel Natera‐de Benito   +13 more
wiley   +1 more source

Experimental methods for studying amyloid cross-interactions. [PDF]

Protein Sci
Kalitnik A, Lassota A, Polańska O, Gąsior-Głogowska M, Szefczyk M, Barbach A, Chilimoniuk J, Jęśkowiak-Kossakowska I, Wojciechowska AW, Wojciechowski JW, Szulc N, Kotulska M, Burdukiewicz M.   +12 more
europepmc   +1 more source

Plasma microRNA Signature as Predictive Marker of Clinical Response to Therapy During Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Despite the availability of effective therapies for Multiple Sclerosis (MS), the unpredictable nature of disease progression and the variability in individual treatment outcomes call for reliable biomarkers. This pilot study aims to investigate the potential of plasma circulating microRNAs (miRNAs) as predictive biomarkers for ...
Fortunata Carbone, Alessandra Colamatteo, Teresa Micillo, Gianmarco Abbadessa, Silvia Garavelli, Clorinda Fusco, Claudia Russo, Francesco Perna, Federica Garziano, Claudia La Rocca, Maria Mottola, Giorgia Teresa Maniscalco, Simona Bonavita, Antonio Luca Spiezia, Alessia Castiello, Roberta Lanzillo, Vincenzo Brescia Morra, Claudio Procaccini, Paola de Candia, Giuseppe Matarese   +19 more
wiley   +1 more source