Results 111 to 120 of about 56,601 (283)

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain‐expressed sodium channelopathies

Epilepsia, EarlyView.
Abstract Objective Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis (NDEEMA) represents the most severe end of the gain‐of‐function (GOF) SCN1A disorder spectrum. Sporadic cases of congenital arthrogryposis have also been reported in individuals with SCN2A‐, SCN3A‐, and SCN8A‐related developmental and ...
Sopio Gverdtsiteli, Sebastian Ortiz, Tobias Brünger, Francesca Furia, Carmen Barba, Trine Bjørg‐Hammer, Ingo Borggraefe, Roberto Caraballo, Sebahattin Cirak, Alberto Espeche, Walid Fazeli, Renzo Guerrini, Matias Juanes, Karin Kassahn, Maria Kinali, Johannes Krämer, Judith Kröll, Maria Concepción Miranda Herrero, Renske Oegema, Katrin Ounap, Oscar Peñuela, Konrad Platzer, Asuri Narayan Prasad, Aurora Pujol, Karit Reinson, Alfonso Represa, Eugenia Roza, Gabriela Reyes Valenzuela, Agustí Rodríguez‐Palmero, Suzanne Sallevelt, Maria Iciar Sanchez‐Albiusa, Ingrid E. Scheffer, Cory Smid, Carl E. Stafstrom, Eva‐Lena Stattin, Jen R. Suarez, Steffen Syrbe, Kette D. Valente, Matias Wagner, Saskia Wortmann, Elena Gardella, Dennis Lal, Andreas Brunklaus, Rikke S. Møller   +43 more
wiley   +1 more source

Neuroradiological evaluation of demyelinating disease

Therapeutic Advances in Neurological Disorders, 2013
Central nervous system inflammatory demyelinating disease can affect patients across the life span. Consensus definitions and criteria of all of the different acquired demyelinating diseases that fall on this spectrum have magnetic resonance imaging ...
Jan-Mendelt Tillema, Istvan Pirko
doaj   +1 more source

Sodium‐glucose cotransporter 2 inhibitors and the risk of late onset epilepsy: A real‐world cohort study

Epilepsia, EarlyView.
Abstract Objective Late onset epilepsy (LOE) is associated with substantial morbidity. Sodium‐glucose cotransporter 2 inhibitors (SGLT2i) may exert neuroprotective effects. This study evaluated the association between SGLT2i and risk of LOE among older adults with type 2 diabetes mellitus.
Bing‐Hua Lin, Hui‐Min Huang, Hui‐An Lin, Sheng‐Feng Lin   +3 more
wiley   +1 more source

A Tripartite Model for EBV‐Driven Multiple Sclerosis: B Cell Survival, Altered Self‐Presentation, and HLA‐DR15‐Restricted T Cell Cross‐Reactivity

iNew Medicine, EarlyView.
ABSTRACT This commentary integrates findings from three recent Cell reports to establish a unified mechanistic model of multiple sclerosis (MS) driven by the interplay between Epstein‐Barr virus (EBV) and the HLA‐DR15 genotype. EBV promotes CNS autoimmunity through three distinct but intersecting mechanisms.
Fang Zhu, Arnaud John Kombe Kombe, Tengchuan Jin   +2 more
wiley   +1 more source

Atypical Pediatric Demyelinating Diseases of the Central Nervous System.

, 2019
PURPOSE OF REVIEW: Pediatric central nervous system demyelinating diseases include multiple sclerosis (MS), neuromyelitis optica spectrum disorder (NMOSD), and acute disseminated encephalomyelitis (ADEM). As diagnostic criteria become more inclusive, the
Christy, Alison, Troxell, Regina M
core  

The regulation of stem cell fate and its application in neural regeneration

Interdisciplinary Medicine, EarlyView.
Regulating stem cell fate is crucial for neural regeneration. This review summarizes key physical, biological, and chemical strategies and their applications in repairing nerve injuries, providing new insights for regenerative medicine. Abstract Regulating the fate of stem cells (SCs) is a key technical problem in the field of regenerative medicine and
Yuexin He, Xingyu Chen, Minghong He, Zhe Li   +3 more
wiley   +1 more source

Improved UNet‐based magnetic resonance imaging segmentation of demyelinating diseases with small lesion regions

Cognitive Computation and Systems
Accurate magnetic resonance imaging (MRI) segmentation plays a critical role in the diagnosis and treatment of demyelinating diseases. But the existing automatic segmentation methods are not suitable for the segmentation of demyelinating lesions with ...
Minhui Liu, Tianlei Wang, Dekang Liu, Feng Gao, Jiuwen Cao   +4 more
doaj   +1 more source

The impact of gut microbiome on neuro-autoimmune demyelinating diseases

Academia Biology
Demyelinating diseases, including multiple sclerosis (MS), neuromyelitis optica spectrum disorder (NMOSD), and chronic inflammatory demyelinating polyneuropathy (CIDP), are characterized by dysregulated immune responses to self-antigens ...
Pouria Abolfazli, Cristina Nkene Apue Nchama, Brandon Lucke-Wold   +2 more
doaj   +1 more source

Plasma Very‐Long‐Chain Fatty Acids in X‐Linked Adrenoleukodystrophy: Diagnostic Insights From a Clinical Laboratory Cohort

Journal of Clinical Laboratory Analysis, EarlyView.
Plasma VLCFA levels are increased in symptomatic X‐linked adrenoleukodystrophy, particularly in patients with cerebral involvement. However, they do not reliably predict disease progression or longitudinal changes. These findings support their diagnostic value while highlighting the need for more robust prognostic biomarkers in clinical practice ...
Sergio Molina Blas, Sergio Pérez Pujalte, Ana Moreno Álvarez, Ana Isabel Álvarez Ríos, Beatriz Muñoz Cabello, Constanza Navarro Moreno, Ana Lucia Gómez Gila, Elena Dios Fuentes, Eva Venegas Moreno, Carmen Delgado Pecellín   +9 more
wiley   +1 more source

Anti-NMDAR Antibodies in Demyelinating Diseases

, 2017
Introduction: Antibodies against N-methyl D-aspartate receptor (anti-NMDAR) are directly pathogenic autoantibodies associated with encephalitis. Cases reporting the presence of anti-NMDAR antibodies associated with a demyelinating disease have been ...
Elisak, M., Marusic, P., Liskova, P., Ivana Štětkářová, Krysl, David,, Petr Marusič, Hanzalova, J., Meluzinova, E., I. Doležalová, Stetkarova, I., Martin Elišák, J. Hanzalová, Petra Lišková, Eva Meluzínová, David Krýsl, Dolezalova, I.   +15 more
core   +1 more source