Results 11 to 20 of about 1,279 (113)

Tubers Affecting the Fusiform Face Area Are Associated with Autism Diagnosis

Annals of Neurology, Volume 93, Issue 3, Page 577-590, March 2023., 2023
Objective Tuberous sclerosis complex (TSC) is associated with focal brain “tubers” and a high incidence of autism spectrum disorder (ASD). The location of brain tubers associated with autism may provide insight into the neuroanatomical substrate of ASD symptoms.
Alexander L. Cohen, Mallory R. Kroeck, Juliana Wall, Peter McManus, Arina Ovchinnikova, Mustafa Sahin, Darcy A. Krueger, E. Martina Bebin, Hope Northrup, Joyce Y. Wu, Simon K. Warfield, Jurriaan M. Peters, Michael D. Fox, on behalf of the Tuberous Sclerosis Complex Autism Center of Excellence Network Study Group   +13 more
wiley   +1 more source

Acetate correlates with disability and immune response in multiple sclerosis [PDF]

PeerJ, 2020
Background Gut microbiota has been related to multiple sclerosis (MS) etiopathogenesis. Short-chain fatty acids (SCFA) are compounds derived from microbial metabolism that have a role in gut-brain axis.
Silvia Pérez-Pérez, María Inmaculada Domínguez-Mozo, Aitana Alonso-Gómez, Silvia Medina, Noelia Villarrubia, Jose Ignacio Fernández-Velasco, María Ángel García-Martínez, Estefanía García-Calvo, Héctor Estévez, Lucienne Costa-Frossard, Jose C. Alvarez-Cermeño, Jose L. Luque-Garcia, Rafael Arroyo, Luisa M. Villar, Roberto Alvarez-Lafuente   +14 more
doaj   +2 more sources

Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal

Human Mutation, Volume 2023, Issue 1, 2023., 2023
Tuberous sclerosis complex (TSC) is caused by inactivating variants in TSC1 and TSC2. Somatic mosaicism, as well as the size and complexity of the TSC1 and TSC2 loci, makes variant identification challenging. Indeed, in some individuals with a clinical diagnosis of TSC, diagnostic testing fails to identify an inactivating variant.
Hannah D. West, Mark Nellist, Rutger W. W. Brouwer, Mirjam C. G. N. van den Hout-van Vroonhoven, Luiz Gustavo Dufner de Almeida, Femke Hendriks, Peter Elfferich, Meera Raja, Peter Giles, Rosa M. Alfano, Angela Peron, Yves Sznajer, Liesbeth De Waele, Anna Jansen, Marije Koopmans, Anneke Kievit, Laura S. Farach, Hope Northrup, Julian R. Sampson, Laura E. Thomas, Wilfred F. J. van IJcken, Jian-Min Chen   +21 more
wiley   +1 more source

Establishing the best combination of the kappa free light chain index and oligoclonal bands for an accurate diagnosis of multiple sclerosis

Frontiers in Immunology, 2023
IntroductionThe immunoglobulin kappa free light chain (KFLC) index has been proposed as a potentially suitable alternative to oligoclonal IgG bands (OCGB) for diagnosing multiple sclerosis (MS), offering automation and reduced processing time.
Enric Monreal, José Ignacio Fernández-Velasco, Ana García-Soidán, Susana Sainz de la Maza, Mercedes Espiño, Noelia Villarrubia, Fernando Rodríguez-Jorge, Juan Luís Chico-García, Raquel Sainz-Amo, Jaime Masjuan, Lucienne Costa-Frossard, Luisa María Villar   +11 more
doaj   +1 more source

Characteristics of subjective cognitive decline associated with amyloid positivity

Alzheimer's &Dementia, Volume 18, Issue 10, Page 1832-1845, October 2022., 2022
Abstract Introduction The evidence for characteristics of persons with subjective cognitive decline (SCD) associated with amyloid positivity is limited. Methods In 1640 persons with SCD from 20 Amyloid Biomarker Study cohort, we investigated the associations of SCD‐specific characteristics (informant confirmation, domain‐specific complaints, concerns ...
Olin Janssen, Willemijn J. Jansen, Stephanie J.B. Vos, Merce Boada, Lucilla Parnetti, Tomasz Gabryelewicz, Tormod Fladby, José Luis Molinuevo, Sylvia Villeneuve, Jakub Hort, Stéphane Epelbaum, Alberto Lleó, Sebastiaan Engelborghs, Wiesje M. van der Flier, Susan Landau, Julius Popp, Anders Wallin, Philip Scheltens, Marcel Olde Rikkert, Peter J. Snyder, Chris Rowe, Gaël Chételat, Agustin Ruíz, Marta Marquié, Elena Chipi, Steffen Wolfsgruber, Michael Heneka, Henning Boecker, Oliver Peters, Jonas Jarholm, Lorena Rami, Adrià Tort‐Merino, Alexa Pichet Binette, Judes Poirier, Pedro Rosa‐Neto, Jiri Cerman, Bruno Dubois, Marc Teichmann, Daniel Alcolea, Juan Fortea, M. Belén Sánchez‐Saudinós, Jarith Ebenau, Cornelia Pocnet, Marie Eckerström, Louisa Thompson, Victor Villemagne, Rachel Buckley, Samantha Burnham, Marion Delarue, Yvonne Freund‐Levi, Åsa K. Wallin, Inez Ramakers, Magda Tsolaki, Hilkka Soininen, Harald Hampel, Luiza Spiru, for the Alzheimer's Disease Neuroimaging Initiative, FACEHBI study group, PREVENT‐AD research group, Betty Tijms, Rik Ossenkoppele, Frans R. J. Verhey, Frank Jessen, Pieter Jelle Visser   +63 more
wiley   +1 more source

Fully automated delineation of the optic radiation for surgical planning using clinically feasible sequences

Human Brain Mapping, Volume 42, Issue 18, Page 5911-5926, December 15, 2021., 2021
Quadrantanopia caused by inadvertent severing of Meyer's Loop of the optic radiation is a well‐recognised complication of temporal lobectomy. We demonstrated a fully automated pipeline that could delineate this structure reliably and realistically on more than 500 unique brains, including both advanced and more clinically‐accessible acquisitions ...
Lee B. Reid, Eloy Martínez‐Heras, Jose V. Manjón, Rosalind L. Jeffree, Hamish Alexander, Julie Trinder, Elisabeth Solana, Sara Llufriu, Stephen Rose, Marita Prior, Jurgen Fripp   +10 more
wiley   +1 more source

Qué se debe saber en esclerosis múltiple: 16 preguntas prácticas

Acta Neurológica Colombiana, 2019
La esclerosis múltiple (EM) es la más frecuente de las enfermedades desmielinizantes del sistema nervioso central. Se trata de una patología compleja, con mecanismos fisiopatológicos aún no elucidados completamente y una presentación clínica variada. Es
Jaime Toro G, Jorge Patiño, Saúl Reyes, Juan Sebastián Rivera, Jorge Ríos, Daniel Noriega   +5 more
doaj   +1 more source

Aging and neuroinflammation: Changes in immune cell responses, axon integrity, and motor function in a viral model of progressive multiple sclerosis

Aging Cell, Volume 20, Issue 9, September 2021., 2021
A review of CNS immune changes of Theiler's virus‐infected mice at young (12 weeks after infection) and old age (40 weeks after infection). The type of changes in the response to viral infection results of the comparison with the corresponding changes observed in young and old sham mice.
Leyre Mestre, Graciela Alonso, Ana Feliú, Miriam Mecha, Carolina Martín, Luisa M. Villar, Carmen Guaza   +6 more
wiley   +1 more source

COVID-19 en pacientes con esclerosis múltiple: estudio observacional retrospectivo en un centro de referencia colombiano

Acta Neurológica Colombiana, 2023
Introducción: en Colombia, la información sobre la frecuencia de presentación de la enfermedad por COVID-19 y sus desenlaces en personas con esclerosis múltiple (EM) es prácticamente inexistente.
Simón Cárdenas-Robledo, Pilar Enriquez-Ruano, Claudia Guío-Sánchez, Lorena López-Reyes   +3 more
doaj   +1 more source

Estudio del efecto del tratamiento con inmunoglobulinas por vía intravenosa en la neuromielitis óptica

Neurología, 2013
Resumen: Objetivo: Evaluar la seguridad y tolerancia de las inmunoglobulinas por vía intravenosa (IgIV) para el tratamiento de la neuromielitis óptica (NMO).
M.J. Magraner, F. Coret, B. Casanova
doaj   +1 more source