Results 191 to 200 of about 17,457,065 (305)

Generalized Dystonia With Cervical Predominance in a Patient With a De Novo TCF20 Variant

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT TCF20 has been implicated in developmental delay and intellectual disability, with dystonia reported less frequently. We describe a woman in her early twenties with childhood‐onset learning difficulties, progressive dysarthria, tremor, and generalized dystonia with marked cervical predominance, associated with a de novo TCF20 frameshift ...
Melisa Kilic, Petr Dusek, Ibrahim Kamaci, Bahar Gulmez, Gul Yalcin Cakmakli, Ersin Tan, Sibel Ugur Iseri, Zuhal Yapici   +7 more
wiley   +1 more source

Forecasting compound sea level extremes: the 29-30 October 2018 Adriatic storm surge and meteotsunami extreme. [PDF]

Nat Hazards (Dordr)
Ruić K, Šepić J, Telišman Prtenjak M, Horvath K, Kvakić M.   +4 more
europepmc   +1 more source

Anticoagulation Treatment Response Among Phenotypic ESUS Clusters: Evidence From CASPR

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate treatment effect heterogeneity across phenotypic clusters of patients with cryptogenic embolic stroke using causal inference methods. Methods From a retrospective, multicenter cohort of patients with cryptogenic embolic stroke, we estimated the treatment effect of anticoagulation versus antiplatelet therapy in patients ...
Elena Badillo Goicoechea, Patrick Ellsworth, James E. Siegler, James R. Brorson, Christina M. Lineback, Frank G. Conyers, Deborah Kerrigan, Kelsey Eklund, Shadi Yaghi, Farid Khasiyev, Emiliya Melkumova, Collin J. Culbertson, Marissa D'Souza, Dinesh V. Jillella, Patrick Glover, Hassan Aboul‐Nour, Fadi Nahab, Mahan Shahrivari, Simona Nedelcu, David S. Liebeskind, Matthew M. Smith, Aaron Rothstein, Anna Bowman, Alicia Zha, Narendra Kala, Ahmad Abu Qdais, Sami Al Kasab, Mudassir Farooqui, Diana Rojas‐Soto, Yasmin Aziz, Franziska Herpich, Jean‐Philippe Daniel, Sean L. Thompson, Vivek Patel, Thanh N. Nguyen, Siddharth Sehgal, Wenzheng Yu, Wayneho Kam, Russel Van Coevering, Oana M. Dumitrascu, Muhammad Alvi, Balaji Krishnaiah, Setareh Salehi Omran, Guillermo Linares, Eesha Singh, Hamid Ali, Mary Penckofer, Jesse M. Thon, Shani Mannion, Dalia Chahien, Lucia Chen, Fawad Talat, Mehdi Abbasi, Richa Sharma   +53 more
wiley   +1 more source

The Role of Chromosomal Fusions in Genetic Divergence of a Keystone Arctic Species (<i>Boreogadus saida</i>). [PDF]

Ecol Evol
Hale MC, Howe N, Loewen T, Hedges K, Geoffroy M, Herbig JL, Larson W.   +6 more
europepmc   +1 more source

Diffusion Basis Spectrum Imaging of Tissue Microstructure and Early Treatment in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Conventional MRI cannot resolve the coexisting pathological processes within multiple sclerosis tissue. Diffusion Basis Spectrum Imaging decomposes the diffusion signal into fiber, cell, and hindered ratios indexing axonal integrity, cellularity, and extracellular space, respectively.
Apisit Kaewsanit, Aime Luna, Bradley Judge, Nicole Shelley, Karl Friedrichsen, Jayashree Rajamanickam, Zhude Tu, Yong Wang, Tammie L. S. Benzinger, Qing Wang, Matthew R. Brier   +10 more
wiley   +1 more source

Greenland Emissions Contribute to Black Carbon Aerosols in the Arctic Marine Boundary Layer. [PDF]

Environ Sci Technol
Teng X, Du M, Song C, Dai Y, Lal Chandani V, Beddows DCS, Dall'Osto M, Baumgardner D, Harrison RM, Brean J, Yang M, Zhang Y, Li W, Shi Z.   +13 more
europepmc   +1 more source

Incident Comorbid Diabetes and Outcomes in Multiple Sclerosis: An English Population‐Based Cohort Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To compare the incidence of diabetes mellitus and its associations with hospitalisation and mortality in adults with multiple sclerosis (MS) and matched controls. Methods Using English primary care data from the Clinical Practice Research Datalink, linked to hospital and mortality records, we matched adults with MS with up to 10 ...
Yolanda Lau, Sedigheh Zabihi, Morghan Hartmann, Georgina Mathlin, Sube Banerjee, Ebaa Marouf, Clare Hadley, Claudia Cooper, Ruth Dobson   +8 more
wiley   +1 more source

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

Genetic insights into the non-indigenous copepod <i>Pseudodiaptomus marinus</i> Sato, 1913 (Calanoida: Pseudodiaptomidae) in the Mediterranean Sea. [PDF]

PeerJ
Di Capua I, Piredda R, Amato A, Camatti E, Carotenuto Y, Corona S, D'Angiolo R, Marcucci A, Goruppi A, Tirelli V, Zagami G, Uttieri M.   +11 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