Results 211 to 220 of about 4,352,139 (301)

Investigation of Complement Activation and Cytokine Signatures in AQP4+ NMOSD, MOGAD, and MS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Aquaporin‐4‐IgG seropositive neuromyelitis optica spectrum disorder (AQP4+ NMOSD), myelin oligodendrocyte glycoprotein antibody‐associated disease (MOGAD), and multiple sclerosis (MS) are pathophysiologically distinct neuroinflammatory disorders. Complement activation is a major mechanism of injury in AQP4+ NMOSD, whereas its role in
Angeliki G. Filippatou, Susana Dominguez‐Penuela, David Acero‐Garces, Georgios Gakis, Matthew D. Smith, Yasmin Resto, Maria Reyes‐Mantilla, Haiwen Chen, Isabella Hernandez, Yana Said, Andrea Salazar‐Camelo, Christina Huynh, Alessia Tassoni, Ted Yednock, Rick Artis, Yaisa Andrews‐Zwilling, Scott D. Newsome, Shiv Saidha, Pavan Bhargava, Ellen M. Mowry, Kathryn C. Fitzgerald, Peter A. Calabresi, Carlos A. Pardo, Elias S. Sotirchos   +23 more
wiley   +1 more source

Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez, Amy Tam, Siofra Carty, Monica Ferrer Socorro, Kathryn Yang, Darius Ebrahimi‐Fakhari   +5 more
wiley   +1 more source

Metabolic syndrome in stable long-term antipsychotic monotherapy and polypharmacy among patients with schizophrenia: a real-world comparative study. [PDF]

Front Psychiatry
Usta H, Beşikci Keleş D.
europepmc   +1 more source

Clinical Variability and Genotype Driven Outcomes in an International Cohort of 14 Pediatric FIG4 Patients

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Biallelic FIG4 variants classically cause distinct conditions characterized by peripheral neuropathy (Charcot‐Marie‐Tooth disease type 4J) or skeletal dysplasia (Yunis‐Varón syndrome). However, central nervous system involvement is increasingly recognized. The prevalence and specific characteristics of movement disorders within FIG4‐
Andrea Gangfuß, Vykuntaraju K. Gowda, Daniel Natera‐de Benito, Pinki Munot, Maria Vanegas, Alejandra Darling, Constanze Reutlinger, Laura Carrera‐Garcia, Gilbert Wunderlich, Heike Kölbel, Burkhard Stüve, David Muhmann, Lucía Monfort Belenguer, Diana‐Gabriela Barca, Viveka Santhosh Reddy C, Varunvenkat M. Srinivasan, Cristina Molina Anguita, Heinz Jungbluth, Hormos Salimi Dafsari, Thomas Rossor, Johann Böhm, Ulrike Schara‐Schmidt, Andreas Roos   +22 more
wiley   +1 more source

Abdominal cocoon syndrome presenting with high-grade small bowel obstruction and postoperative intra-abdominal collection: a case report from Saudi Arabia. [PDF]

J Surg Case Rep
Binmoieql LY, Alomayyer A, Alotaibi S, Alshalfan RI, Almuqbil MS, Alsaab BA.   +5 more
europepmc   +1 more source

Axial Function Reflects Global Severity in Inherited Ataxias: The Upright Stability Score in Ambulatory Friedreich vs. Spinocerebellar Ataxia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Inherited ataxias are clinically diverse neurodegenerative diseases, complicating the choice of outcome measures for trials. In spinocerebellar ataxia (SCA), regulatory concerns about the Scale for the Assessment and Rating of Ataxia (SARA) caused a shift toward functional SARA (f‐SARA), contributing to pivotal trial failure.
Christian Rummey, S. H. Subramony, David R. Lynch, Louise A. Corben, Martin B. Delatycki, Jörg B. Schulz, Kathrin Reetz, Massimo Pandolfo, Matthis Synofzik, Theresa Zesiewicz, Antoine Duquette, Matthew Burns, Martin Vyhnálek, Lucie Stovickova, Sinead M. Murphy, Petya Bogdanova‐Mihaylova, Mary Kearney, Richard Walsh, Richard H. Roxburgh, Khalaf Bushara, Marie Y. Davis, Enrico S. Bertini, Gessica Vasco, Shweta Sahni, Mohammed Faruq, Achal K. Srivastava, Bart van de Warrenburg, Elisabetta Indelicato, Sylvia Boesch, Andrew Billnitzer, Tetsuo Ashizawa, Anoopum S. Gupta, Grace Yoon, Georgios Koutsis, Chrysoula Koniari, Zofia Fleszar, Christopher M. Gomez, Andrea Martinuzzi, Gabriella Paparella, Ali G. Hamedani, Puneet Opal, Rizwan S. Akhtar, Caterina Mariotti, Henry Paulson, Peter Todd, Sharan R. Srinivasan, George Wilmot, Ludger Schöls, Susan Perlman, Jeremy D. Schmahmann, Sheng‐Han Kuo, Liana S. Rosenthal, Vikram G. Shakkottai   +52 more
wiley   +1 more source

The Hidden Trap: Tolosa-Hunt Syndrome Masking Entrapped Great Occipital Nerve-A Case of Headache Surgery. [PDF]

Plast Reconstr Surg Glob Open
Lewin R, Borén C, Tabrisi R.
europepmc   +1 more source

Disentangling the Genetic Relationship Between Sleep and Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective A bidirectional relationship between sleep and epilepsy is well recognised, yet the biological mechanisms linking them remain poorly understood. Both have a genetic basis, with genome‐wide association studies (GWAS) capturing polygenic contributions.
Khang N. Le, Victoria E. Jackson, Rachel E. Stirling, Zachary F. Gerring, Remi Stevelink, Samuel F. Berkovic, Ingrid E. Scheffer, Philippa J. Karoly, Melanie Bahlo, Karen L. Oliver   +9 more
wiley   +1 more source

Streptococcus constellatus-Associated Lemierre Syndrome Presenting With Cavitating Septic Pulmonary Emboli Managed by Video-Assisted Thoracoscopy. [PDF]

Am J Case Rep
Fierro-Mosquera A, Perez-Guerron C, Llerena-Velastegui J, Jimbo-Sotomayor R, Sanchez X.   +4 more
europepmc   +1 more source