Results 1 to 10 of about 19 (18)

Tubers Affecting the Fusiform Face Area Are Associated with Autism Diagnosis

open access: yesAnnals 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   +13 more
wiley   +1 more source

Proteomic profile of CSF obtained at the time of diagnosis determines amyotrophic lateral sclerosis progression and survival: CXCL7 levels in disease prognosis and survival

open access: yesBrain 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   +19 more
wiley   +1 more source

Early Upper Limb Motor Impairment in Multiple Sclerosis Across EDSS Levels: A Case–Control Study

open access: yesBrain 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   +7 more
wiley   +1 more source

Prenatal diagnosis of cardiac rhabdomyoma: implications for predicting tuberous sclerosis complex and guiding perinatal management

open access: yesUltrasound 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   +8 more
wiley   +1 more source

Clusters of Comorbidities in Multiple Sclerosis and Their Influence on Healthcare Resource Usage

open access: yesEuropean 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   +11 more
wiley   +1 more source

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

open access: yesAnnals 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   +17 more
wiley   +1 more source

Short‐chain fatty acids in multiple sclerosis: Associated with disability, number of T2 lesions, and inflammatory profile

open access: yesAnnals 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   +18 more
wiley   +1 more source

The real‐world applicability of the 2023 international myelin oligodendrocyte glycoprotein antibody‐associated disease criteria in a Latin American cohort

open access: yesEuropean 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   +16 more
wiley   +1 more source

Effect of Sclerosis Bands in Femoral Head Necrosis on Non‐Vascularized Fibular Grafting—A Finite Element Study

open access: yesOrthopaedic 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   +8 more
wiley   +1 more source

Microscopic fractional anisotropy outperforms multiple sclerosis lesion assessment and clinical outcome associations over standard fractional anisotropy tensor

open access: yesHuman 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   +16 more
wiley   +1 more source

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