Results 121 to 130 of about 1,744,557 (311)
Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio +15 morewiley +1 more sourceCuneiform Nucleus Stimulation Can Assist Gait Training to Promote Locomotor Recovery in Individuals With Incomplete Tetraplegia
Annals of Neurology, EarlyView.Objective
Impaired ability to induce stepping after incomplete spinal cord injury (SCI) can limit the efficacy of locomotor training, often leaving patients wheelchair‐bound. The cuneiform nucleus (CNF), a key mesencephalic locomotor control center, modulates the activity of spinal locomotor centers via the reticulospinal tract.Anna‐Sophie Hofer, Lennart H. Stieglitz, Marc Bolliger, Linard Filli, Adrian Cathomen, Romina Willi, Irina Lerch, Iris Krüsi, Melina Giagiozis, Christian Meyer, Martin Schubert, Michèle Hubli, Thomas M. Kessler, László Demkó, Christian R. Baumann, Lukas Imbach, Markus F. Oertel, Andrea Prusse, Alina Kiseleva, Luca Regli, Martin E. Schwab, Armin Curt +21 morewiley +1 more sourcePrevalence of Urinary Tract Infection, Bacteremia, and Meningitis Among Febrile Infants Aged 8 to 60 Days With SARS-CoV-2 [PDF]
, 2023 Paul L. Aronson, Jeffrey P. Louie, Ellen Kerns, Brittany Jennings, Sloane Magee, Marie E. Wang, Nisha Gupta, Christopher Kovaleski, Lauren M. McDaniel, Corrie E. McDaniel, Chisom Agbim, Owen Amadasun, Nicholas Beam, Bradley Beamon, Heather J. Becker, Emma M. Bedard, Eric Biondi, Jenna Boulet, Amelia Bray-Aschenbrenner, Rona Brooks, Clifford Chen, Jacqueline B. Corboy, Nickolas Dawlabani, Guillermo De Angulo, Senayit Demie, Jennifer Drexler, Nanette C. Dudley, Andrew G. Ellis, Kelsey Fath, Alejandra Frauenfelder, Jeff Gill, Thomas Graf, Melissa Grageda, Heidi G. Greening, Alison Griffin, Amy Groen, David Guernsey, Sarah Gustafson, W. Caleb Hancock, Sujit Iyer, Patti Jo Jaiyeola, A. Jayanth, Rebecca Jennings, Svetlana S. Kachan‐Liu, Aditi Kamat, I. Kennedy, Loay Khateeb, Ohmed Khilji, Elizabeth A. Kleweno, A. Kumar, Stephanie Kwon, Alicia La, Petra Laeven-Sessions, Kaitlyn Phuong Le, Rianna C. Leazer, Kelly Levasseur, Emilee C. Lewis, Walid M. Maalouli, Bonnie S. Mackenzie, Kathleen Mahoney, Deborah M. Margulis, Lauren Maskin, E J McCarty, Alexa N. Monroy, John M. Morrison, Jennifer H. Myszewski, Nicole Nadeau, Suresh Nagappan, Kristen Newcomer, Matthew C. Nordstrom, Diana Nguyen, Peter M. O’Day, Yuliya Oumarbaeva, Ursula Parlin, Summer Peters, Mary Jane Piroutek, Renee Quarrie, Kerrilynn Rice, Teresa M. Romano, Sahar N. Rooholamini, C. Schroeder, Elizabeth K. Segar, Patrick Seitzinger, Suparna Sharma, Blair E. Simpson, Prachi Singh, Yasmine Sobeih, Sakina Sojar, Karthik K. Srinivasan, Emily C. Sterrett, Mary Elizabeth Swift-Taylor, Sara Szkola, Jennifer Thull‐Freedman, Irina Topoz, Tatyana Vayngortin, Christopher Veit, Yenimar Ventura-Polanco, Ashley Wallace, Lindsay Weiss, Erika K. Wong +99 moreopenalex +1 more sourceClinical–Radiological Spectrum of Cerebral Amyloid Angiopathy‐Related Inflammation
Annals of Neurology, EarlyView.Objective
To identify clinical and radiological features of cerebral amyloid angiopathy‐related inflammation (CAA‐ri), and compare these features with those of sporadic CAA, to improve the understanding, diagnosis, and clinical care of CAA‐ri. Methods
We retrospectively reviewed routine clinical data from 37 patients with CAA‐ri and 158 patients with ...Larysa Panteleienko, Gargi Banerjee, Dermot Mallon, Kitti Thiankhaw, Rupert Oliver, Victoria Harvey, Gareth Ambler, Michael Zandi, Hans Rolf Jäger, David J. Werring +9 morewiley +1 more sourceClinical and economic consequences of first-year urinary tract infections, sepsis, and pneumonia in contemporary kidney transplantation practice
, 2015 Abhijit S. Naik, Vikas R. Dharnidharka, Mark A. Schnitzler, Daniel C. Brennan, Dorry L. Segev, David A. Axelrod, Huiling Xiao, Lauren M. Kucirka, Jiajing Chen, Krista L. Lentine +9 moreopenalex +1 more sourceEuropean guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender
BJS (British Journal of Surgery), EarlyView., 2020 Recommendations for clinical and molecular identification of LS, surgical and endoscopic management of LS‐associated colorectal cancer and preventive measures for cancer were produced. The emphasis was on surgical and gastroenterological aspects of the cancer spectrum.T. T. Seppälä, A. Latchford, I. Negoi, A. Sampaio Soares, R. Jimenez‐Rodriguez, L. Sánchez‐Guillén, D. G. Evans, N. Ryan, E. J. Crosbie, M. Dominguez‐Valentin, J. Burn, M. Kloor, M. von Knebel Doeberitz, F. J. B. van Duijnhoven, P. Quirke, J. R. Sampson, P. Møller, G. Möslein, on behalf of the European Hereditary Tumour Group (EHTG) and European Society of Coloproctology (ESCP) +18 morewiley +1 more sourceTransient Pseudohypoaldosteronism in an Infant: A Case Report
Journal of the ASEAN Federation of Endocrine Societies, 2018 Transient pseudohypoaldosteronism is strongly linked to urinary tract infections complicating structural urinary tract anomalies. A 3-month-old baby girl with hyponatremia, hyperkalemia and metabolic acidosis associated with urinary tract infection and ...Tin Nwe Latt, Siti Iryawani Rahman, Noor Shafina Mohd Nor +2 moredoaj
