Results 1 to 10 of about 19 (18)
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 morewiley +1 more sourceProteomic profile of CSF obtained at the time of diagnosis determines amyotrophic lateral sclerosis progression and survival: CXCL7 levels in disease prognosis and survival
Brain Pathology, Volume 36, Issue 5, September 2026.Untargeted multiomic profiling of cerebrospinal fluid reveals that proteomic, but not lipidomic, signatures robustly distinguish ALS patients from controls and stratify individuals by survival, highlighting marked molecular differences between short survival and long survival disease.Sergio Roca‐Pereira, Yaiza López‐Sampere, Pol Mengod‐Soler, Mario Peña‐Fonteboa, Carla Marco, Alejandro Caravaca‐Puchades, Raúl Domínguez, Juan Francisco Vázquez‐Costa, Enrique Santamaría, Joaquín Fernández‐Irigoyen, María J. Colomina, Isabel León Moreno, Antonio Martínez Yélamos, Sergio Martínez Yélamos, Gabriel Santpere, Elia Obis, Manuel Portero‐Otín, Gerard Piñol‐Ripoll, Mónica Povedano, Pol Andrés‐Benito +19 morewiley +1 more sourceEarly Upper Limb Motor Impairment in Multiple Sclerosis Across EDSS Levels: A Case–Control Study
Brain and Behavior, Volume 16, Issue 8, August 2026.Upper limb function is impaired in people with multiple sclerosis compared with healthy controls, even at low levels of neurological disability. Patients are stratified by Expanded Disability Status Scale (EDSS) score (≤3.5 and >3.5) and assessed using objective upper limb measures.Aitor Blázquez‐Fernández, Selena Marcos‐Antón, Cecilia Estrada‐Barranco, Patricia Martín‐Casas, Rosa María Ortiz‐Gutiérrez, Carmen Jiménez‐Antona, Sofía Laguarta‐Val, Roberto Cano‐de‐la‐Cuerda +7 morewiley +1 more sourcePrenatal diagnosis of cardiac rhabdomyoma: implications for predicting tuberous sclerosis complex and guiding perinatal management
Ultrasound in Obstetrics &Gynecology, Volume 68, Issue 1, Page 88-98, July 2026.ABSTRACT Objective
To identify prenatal predictors of tuberous sclerosis complex (TSC) in fetuses with one or more cardiac rhabdomyomas (CR), evaluate an integrated multimodal diagnostic workflow using fetal magnetic resonance imaging (MRI) and trio whole‐exome sequencing (trio‐WES) and characterize perinatal outcomes.X. Cai, J. Liu, W. Zheng, Y. Jiao, Y. Lou, M. Deng, W. Zhao, K. Yan, L. Sun +8 morewiley +1 more sourceClusters of Comorbidities in Multiple Sclerosis and Their Influence on Healthcare Resource Usage
European Journal of Neurology, Volume 32, Issue 11, November 2025.Using latent‐class models in a population‐based sample of MS patients, cardiovascular and psychiatric clusters were identified. Nurse visits and medication dispensation were higher in the cardiovascular cluster, and annual sick‐leave days were higher in the psychiatric cluster.Simón Cárdenas‐Robledo, Susana Otero‐Romero, Juan David García, Nuria López, Pere Carbonell‐Mirabent, Marta Rodríguez, Claudia Guío‐Sánchez, René Carvajal, Maria Angels Passarell‐Bacradit, Jaume Sastre‐Garriga, Xavier Montalban, Mar Tintoré +11 morewiley +1 more sourceA Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration
Annals of Clinical and Translational Neurology, Volume 12, Issue 9, Page 1894-1900, September 2025.ABSTRACT
C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who Sara Rubio‐Guerra, Sara Bernal, David Almenta, Josefina Pérez‐Blanco, Valle Camacho, Isabel Sala, Mª Belén Sánchez‐Saudinós, Jesús García Castro, Judit Selma‐González, Miguel Ángel Santos‐Santos, Álvaro Carbayo, Janina Turon‐Sans, Ricard Rojas‐Garcia, Daniel Alcolea, Juan Fortea, Alberto Lleó, Oriol Dols‐Icardo, Ignacio Illán‐Gala +17 morewiley +1 more sourceShort‐chain fatty acids in multiple sclerosis: Associated with disability, number of T2 lesions, and inflammatory profile
Annals of Clinical and Translational Neurology, Volume 12, Issue 3, Page 478-490, March 2025.Abstract Objective
An alteration in the composition of the intestinal microbiota has been observed in patients with multiple sclerosis (pwMS) with respect to healthy controls (HC). Microorganism‐derived metabolites such as short‐chain fatty acids (SCFA) have been suggested to play a role in the disease.Maria Inmaculada Dominguez‐Mozo, Daniel López‐Mecández, Luisa María Villar, Lucienne Costa‐Frossard, Noelia Villarrubia, Yolanda Aladro, Belén Pilo, Xavier Montalbán, Manuel Comabella, Ignacio Casanova‐Peño, Inés González‐Suárez, María Luisa Martínez‐Ginés, Jose Manuel García‐Domínguez, Estefanía García‐Calvo, Andrés Machuca‐Marcos, Jose Luis Luque‐Garcia, María Angel Garcia‐Martinez, Rafael Arroyo, Roberto Alvarez‐Lafuente +18 morewiley +1 more sourceThe real‐world applicability of the 2023 international myelin oligodendrocyte glycoprotein antibody‐associated disease criteria in a Latin American cohort
European Journal of Neurology, Volume 31, Issue 12, December 2024.Abstract Background and Purpose
The diagnostic criteria for myelin oligodendrocyte glycoprotein antibody (MOG‐IgG)‐associated disease (MOGAD) were published in 2023. We aimed to determine the performance of the new criteria in Latin American (LATAM) patients compared with the 2018 criteria and explore the significance of MOG–IgG titers in diagnosis ...Edgar Carnero Contentti, Claudia Pestchanker, Ethel Ciampi, Sheila Castro Suarez, Cesar Caparo Zamalloa, Vanesa Daccach Marques, Katharina Messias, José Ignacio Gortari, Verónica Tkachuk, Berenice Silva, Carolina Mainella, Saúl Reyes, Jaime Toro, Juan Rodriguez, Edgar Correa‐Diaz, Juan I. Rojas, Friedemann Paul +16 morewiley +1 more sourceEffect of Sclerosis Bands in Femoral Head Necrosis on Non‐Vascularized Fibular Grafting—A Finite Element Study
Orthopaedic Surgery, Volume 16, Issue 10, Page 2526-2538, October 2024.This study simulated the stress and displacement distribution on the surface of the femoral head after non‐vascularized fibular grafting surgery using a finite element model. The results indicated that the sclerosis band in the anterolateral region plays a mechanical supporting role for the femoral head after non‐vascularized fibular grafting surgery ...Huang Yixuan, Yuan Xinwei, Gao Feifei, Mai Jianbin, Guo Mingbin, Xi Hongzhong, Song Wei, Liu Xin, Du Bin +8 morewiley +1 more sourceMicroscopic fractional anisotropy outperforms multiple sclerosis lesion assessment and clinical outcome associations over standard fractional anisotropy tensor
Human Brain Mapping, Volume 45, Issue 8, June 1, 2024.This research reveals that microscopic fractional anisotropy outperforms standard fractional anisotropy in identifying tissue damage and discerning connectivity patterns in multiple sclerosis, thus improving lesion prediction and insight into the disease's cognitive and physical effects.F. Vivó, E. Solana, A. Calvi, E. Lopez‐Soley, L. B. Reid, S. Pascual‐Diaz, C. Garrido, L. Planas‐Tardido, J. M. Cabrera‐Maqueda, S. Alba‐Arbalat, M. Sepulveda, Y. Blanco, B. Kanber, F. Prados, A. Saiz, S. Llufriu, E. Martinez‐Heras +16 morewiley +1 more source