Results 271 to 280 of about 113,820 (337)

Haploidentical hematopoietic stem cell transplantation using post-transplant cyclophosphamide in patients with inborn errors of immunity: Experience in a reference center in Colombia [PDF]

Biomedica
Medina D, Castro JO, Castro DE, Beltrán E, Manzi E, Franco AA, Olaya M.   +6 more
europepmc   +1 more source

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series

Annals of Neurology, EarlyView.
Objective A growing body of evidence indicates a strong genetic overlap between developmental and epileptic encephalopathies (DEEs) and movement disorders. De novo loss‐of‐function variants in NUS1 have been recently identified in DEE cases. Herein, we report a large cohort of cases with pathogenic NUS1 variants and describe their clinical presentation
Sarah M. Brooker, Maria Novelli, Robert Coukos, Neha Prakash, Walaa A. Kamel, Marta Amengual‐Gual, Mathieu Anheim, Giulia Barcia, Tanya Bardakjian, Franciska Baur, Steffen Berweck, Bigna K. Bölsterli, Melanie Brugger, Thomas Cassini, Nicolas Chatron, Brian Corner, Hormos Salimi Dafsari, Jean‐Madeleine de Sainte Agathe, Colin A. Ellis, Kimberly M. Ezell, Cendrine Foucard, Steven J. Frucht, Maria C. Garcia, Deepak Gill, Anne Guimier, Rizwan Hamid, Damià Heine‐Suñer, Peter Herkenrath, Marie Hully, Ioannis U. Isaias, Louis Januel, Chloe Laurencin, Taylor Laut, Alinoe Lavillaureix, Gaetan Lesca, Marion Lesieur‐Sebellin, Luca Magistrelli, Cecilia Marelli, Heather C. Mefford, Bryce A. Mendelsohn, Saadet Mercimek‐Andrews, Claire Miller, Shekeeb S. Mohammad, Francesca Morgante, Sirisha Nandipati, Thomas Opladen, Mahesh Padmanaban, Micaela Pauni, Gianni Pezzoli, Amelie Piton, Francis Ramond, Giulietta M. Riboldi, Christelle Rougeot‐Jung, Fernando Santos‐Simarro, Ingrid E. Scheffer, Naoual Serari, Christine M. Stahl, Ann Stembridge Kung, Susana Tarongí Sanchez, Christel Thauvin‐Robinet, Marianne Till, Christine Tranchant, Christopher Troedson, Thomas F. Tropea, Olivier Vanakker, Patricia Vega, Maxi Leona Wiese, Udo Wieshmann, Laura J. Williams, Thomas Wirth, Michael Zech, Hans Zempel, Emmanuel Roze, Vincenzo Leuzzi, Serena Galosi, Victor S. C. Fung, Gemma Carvill, Dimitri Krainc, Elizabeth Gerard, Niccolò E. Mencacci   +79 more
wiley   +1 more source

Interferons in human inborn errors of disease. [PDF]

mBio
Stine L, Cahill S, Humphries F.
europepmc   +1 more source

Cerebrospinal Fluid Metabolome in Central Nervous System Infections: A Study of Diagnostic Accuracy

Annals of Neurology, EarlyView.
Objective To assess the diagnostic accuracy of metabolites in cerebrospinal fluid (CSF) for central nervous system (CNS) infections. Methods Patients were derived from three prospective cohort studies in the Netherlands. All studies included adults suspected of a CNS infection who underwent a diagnostic lumbar puncture.
Steven L. Staal, Sabine E. Olie, Michel van Weeghel, Bauke V. Schomakers, Frédéric M. Vaz, I‐PACE Study Group, Diederik van de Beek, Matthijs C. Brouwer   +7 more
wiley   +1 more source

Corrigendum to Multiomic analysis in fibroblasts of patients with inborn errors of cobalamin metabolism reveals concordance with clinical and metabolic variability [eBioMedicine 99 (2024), 104911]. [PDF]

EBioMedicine
Wiedemann A, Oussalah A, Guéant Rodriguez RM, Jeannesson E, Merten M, Rotaru I, Alberto JM, Baspinar O, Rashka C, Hassan Z, Siblini Y, Matmat K, Jeandel M, Chery C, Robert A, Chevreux G, Lignières L, Camadro JM, Feillet F, Coelho D, Guéant JL.   +20 more
europepmc   +1 more source

Orthotopic liver transplantation [PDF]

, 1980
Starzl, TE
core  

Mapping Postictal Aphasia through Signal Complexity: A Stereo‐Electroencephalography Study

Annals of Neurology, EarlyView.
Objective The postictal period provides an opportunity to investigate the pathophysiology underlying aphasia and recovery following epileptic seizures. This study examines postictal aphasia in stereo‐electroencephalography (SEEG)‐explored patients to identify brain regions associated with task‐specific language deficits using signal complexity analysis.
Ionuț‐Flavius Bratu, Christian G. Bénar, Samuel Medina Villalon, Lison Ciavatti, Fantine Mazel, Fabrice Bartolomei, Agnès Trébuchon   +6 more
wiley   +1 more source

Distinct molecular characteristics and virulence profiles of carbapenem-resistant <i>Acinetobacter baumannii</i>, <i>Escherichia coli</i>, and <i>Enterobacter cloacae</i> isolated from patients with inborn errors of immunity. [PDF]

Microbiol Spectr
Zhu X, Fu P, Yang S, Wang W, Ying W, Sun B, Sun J, Wang C, Zhou Q, Wang X.   +9 more
europepmc   +1 more source

The contribution of transplantation to gastroenterologic knowledge [PDF]

, 1994
Starzl, TE
core  

The Chemistry and Biology of the Tetrodotoxin Natural Product Family

Angewandte Chemie International Edition, EarlyView.
Tetrodotoxin is best known as the poison of the pufferfish, which is a delicacy in Japanese cuisine. Its toxicity arises from the selective blockage of NaV channels, which is depicted for the NaV1.7 pore, highlighting the DEKA motif, which permeates sodium ions.
Benedikt Nißl, Marcel Mülbaier, Francesca Grisoni, Dirk Trauner, Marcel Bermúdez, Clemens Dialer, David B. Konrad   +6 more
wiley   +1 more source