Results 101 to 110 of about 731,675 (357)

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

Clinico-genetic Analysis of Adenosine Signaling Pathway in Drug-Resistant Epilepsy

Annals of Indian Academy of Neurology
Background and Objectives: The adenosine pathway in drug-resistant epilepsy (DRE) due to hippocampal sclerosis (HS) is largely unexplored. The present study aims to provide new insights into the role of adenosine pathway in patients with DRE associated ...
Vikas Dhiman, Kalpita Karan, Parthasarathy Satischandra, Anita Mahadevan, Arivazhagan Arimappamagan, Rose D Bharath, Dharma Raj, Kandavel Thennarasu, Lakshminarayanpuram G Viswanathan, Ravindranadh Mundlamuri, Raghavendra Kenchaiah, Ajay Asranna, Jitender Saini, Jamuna R Rajeswaran, Keshav Kumar, Malla Bhaskara Rao, Anuranjan Anand, Sanjib Sinha   +17 more
doaj   +1 more source

An open-label, one-arm, dose-escalation study to evaluate safety and tolerability of extremely low frequency magnetic fields in acute ischemic stroke [PDF]

, 2017
Extremely low frequency magnetic fields (ELF-MF) could be an alternative neuroprotective approach for ischemic stroke because preclinical studies have demonstrated their effects on the mechanisms underlying ischemic damage. The purpose of this open-label,
Apollonio, Francesca, Cadossi, Ruggero, Camera, Francesca, Capone, Fioravante, Di Lazzaro, Vincenzo, Liberti, Micaela, Quattrocchi Carlo, Cosimo, Setti, Stefania   +7 more
core   +2 more sources

Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron, Nicholas E. Clifton, Daniel Cabezas de la Fuente, Peter Holmans, Nicholas J. Bray, Kathryn J. Peall   +5 more
wiley   +1 more source

Lipid Nanoparticles for the Delivery of CRISPR/Cas9 Machinery to Enable Site‐Specific Integration of CFTR and Mutation‐Agnostic Disease Rescue

Advanced Functional Materials, EarlyView.
Lipid nanoparticles (LNPs) are optimized to co‐deliver Cas9‐encoding messenger RNA (mRNA), a single guide RNA (sgRNA) targeting the endogenous cystic fibrosis transmembrane conductance regulator (CFTR) gene, and homologous linear double‐stranded donor DNA (ldsDNA) templates encoding CFTR.
Ruth A. Foley, Paul G. Ayoub, Vrishti Sinha, Colin Juett, Alicia Sanoyca, Emily C. Duggan, Lindsay E. Lathrop, Priyanka Bhatt, Kevin Coote, Beate Illek, Brigitte N. Gomperts, Donald B. Kohn, Steven J. Jonas   +12 more
wiley   +1 more source

Editorial: Adenosine pathways in cancer immunity and immunotherapy

Frontiers in Immunology, 2023
Junjiang Fu, Luca Antonioli, Ali H. El-Far   +2 more
doaj   +1 more source

Lung Injury Pathways: Adenosine Receptor 2B Signaling Limits Development of Ischemic Bronchiolitis Obliterans Organizing Pneumonia [PDF]

, 2017
Purpose/Aim of the Study: Adenosine signaling was studied in bronchiolitis obliterans organizing pneumonia (BOOP) resulting from unilateral lung ischemia. Materials and Methods: Ischemia was achieved by either left main pulmonary artery or complete hilar
Auchampach, John, Audi, Said H., Densmore, John C., Dwinell, Melinda R., Geurts, Aron M., Jacobs, Elizabeth R., Jeziorczak, Paul M., Medhora, Meetha, Nayak, Shraddha, Schaid, Terry R.   +9 more
core   +1 more source

Cryo‐EM of Rationally Designed Photosystem I Nanoassembly on Graphene Validates Orientation‐Driven Enhancement of Photocatalytic Performance

Advanced Functional Materials, EarlyView.
The first cryo‐EM visualization and quantification of oriented Photosystem I (PSI) on single‐layer graphene is reported. Domain‐specific covalent anchoring of PSI, with the reducing side of the biophotocatalyst toward graphene, promotes three‐fold higher anodic photocurrent generation compared to a randomly physisorbed counterpart. This approach allows
Miriam Izzo, Margot Jacquet, Tomasz Góral, Marcin Strawski, Takayuki Fujiwara, Shin‐ya Miyagishima, Joanna Kargul   +6 more
wiley   +1 more source

EMERGENCY TREATMENT OF SVT: ADENOSINE VERSUS VERAPAMIL

Journal of University Medical & Dental College, 2017
: Introduction: Supraventricular tachycardia (SVT) is a common arrhythmia seen in critical care settings. After vagal maneuvers, adenosine 6 to 12 mg intravenous bolus is the initial drug of choice.
Naeem Asghar, Shakeel Ahmad, Awais-ur-rehman   +2 more
doaj  

Determination of nucleosides in Cordyceps sinensis and Ganoderma lucidum by high performance liquid chromatography method

Journal of Pharmacy and Bioallied Sciences, 2015
Background: Nucleosides are supportive in the regulation and modulation of various physiological processes in body, they acts as precursors in nucleic acid synthesis, enhance immune response, help in absorption of iron and influence the metabolism of ...
Masood Shah Khan, Rabea Parveen, Kshipra Mishra, Rajkumar Tulsawani, Sayeed Ahmad   +4 more
doaj   +1 more source