Results 281 to 290 of about 403,746 (315)

Fluoxetine Treatment in Epilepsy of Infancy with Migrating Focal Seizures Due to KCNT1 Variants: An Open Label Study

Annals of Neurology, EarlyView.
Objective Gain‐of‐function (GoF) variants in KCNT1 encoding for potassium channels are associated with different epilepsy phenotypes, including epilepsy of infancy with migrating focal seizures (EIMFS), other early infantile developmental and epileptic encephalopathies, and focal epilepsy.
Marina Trivisano, Ilaria Mosca, Licia Salimbene, Angela De Dominicis, Paolo Ambrosino, Deborah Puzo, Ilenio Servettini, Cinzia Correale, Chiara Falamesca, Cristina Filosomi, Bianca Goffredo, Maria Virginia Soldovieri, Maurizio Taglialatela, Nicola Specchio   +13 more
wiley   +1 more source

Mapping Molecular Pathways of Multiple Sclerosis: A Gene Prioritization and Network Analysis of White Matter Pathology Transcriptomics

Annals of Neurology, EarlyView.
Objectives Rapid advances in transcriptomics have driven efforts to identify deregulated pathways in multiple sclerosis (MS) tissues, though many detected differentially expressed genes are likely false positives, with only a small fraction reflecting actual pathological events. Robust, integrative methods are essential for accurately understanding the
Gianmarco Abbadessa, Ai Nagano, Simon Hametner, Owain Howell, David Owen, Artemis Papadaki, Prashant Srivastava, Simona Bonavita, Roberta Magliozzi, Richard Reynolds, Mie Rizig, Richard Nicholas   +11 more
wiley   +1 more source

Cyclic Alternating Pattern Dynamics in Individuals at Risk for Developing Parkinson's Disease

Annals of Neurology, EarlyView.
Objective The objective of this study was to investigate the differences in cyclic alternating patterns (CAP) metrics, a non‐rapid eye movement (NREM) sleep physiological rhythm, among recently diagnosed patients with Parkinson's disease (PD), and individuals at high and low risk for developing PD based on genetic and prodromal risk.
Andrew Dagay, Shlomit Katzav, Danielle Wasserman, Valentina Gnoni, Anat Mirelman, Riva Tauman   +5 more
wiley   +1 more source

Plasma Glucosylceramide Levels Are Regulated by ATP10D and Are Not Involved in Parkinson's Disease Pathogenesis

Annals of Neurology, EarlyView.
GBA1 variants and decreased glucocerebrosidase activity are implicated in Parkinson's disease (PD). We investigated the hypothesis that increased levels of glucosylceramide (GlcCer), a main substrate of glucocerebrosidase, are involved in PD pathogenesis.
Emma N. Somerville, Alva James, Christian Beetz, Robert Schwieger, Gal Barrel, Krishna K. Kandaswamy, Marius I. Iurascu, Peter Bauer, Michael Ta, Hirotaka Iwaki, Konstantin Senkevich, Eric Yu, Roy N. Alcalay, Ziv Gan‐Or   +13 more
wiley   +1 more source

Blood DDIT4 and TRIM13 Transcript Levels Mark the Early Stages of Machado–Joseph Disease

Annals of Neurology, EarlyView.
Objective An abundance of select transcripts and proteins has been found to be dysregulated in blood samples of Machado–Joseph disease (MJD) carriers. Here, we aimed to: (1) identify blood transcriptional changes as potential biomarkers of MJD; (2) correlate levels of differentially expressed blood transcripts with MJD carriers features; and (3 ...
Ana F. Ferreira, Mafalda Raposo, Emily D. Shaw, Louisa Liu, João Vasconcelos, Teresa Kay, Conceição Bettencourt, Maria Luiza Saraiva‐Pereira, Laura Bannach Jardim, Maria do Carmo Costa, Manuela Lima   +10 more
wiley   +1 more source

Dopamine Transporter Imaging as Objective Monitoring Biomarker in Parkinson's Disease

Annals of Neurology, EarlyView.
Objective Although dopamine transporter (DaT) imaging is a valuable diagnostic biomarker, few studies have investigated its utility in objectively monitoring disease progression in patients with Parkinson's disease (PD). To date, no study has established a longitudinal relationship between the DaT signal decline and the motor symptom increase ...
Verena Dzialas, Gérard N. Bischof, Kathrin Möllenhoff, Alexander Drzezga, Thilo van Eimeren   +4 more
wiley   +1 more source

Purine Metabolism and Dystonia: Perspectives of a Long‐Promised Relationship

Annals of Neurology, EarlyView.
Purine pool imbalance in purine metabolism disorders, such as Lesch–Nyhan disease, intersects with dystonia pathogenesis. The recent discovery of gain‐of‐function IMPDH2 pathogenic variants in patients with prominent dystonic manifestations provides new insights into the link between dystonia and purinergic system defects.
Ugo Sorrentino, Audrey G. O'Neill, Justin M. Kollman, Hyder A. Jinnah, Michael Zech   +4 more
wiley   +1 more source

AI in Neurology: Everything, Everywhere, All at Once Part 3: Surveillance, Synthesis, Simulation, and Systems

Annals of Neurology, EarlyView.
This final part 3 review builds on the practical applications discussed in part 2 and explores how artificial intelligence (AI) is transforming data management, neurological education, and neurological care across large healthcare networks and datasets. The review also highlights AI's role in real‐world and synthetic data, digital twins, and innovative
Matthew Rizzo
wiley   +1 more source

Neuropathological Evidence of Reduced Amyloid Beta and Neurofibrillary Tangles in Multiple Sclerosis Cortex

Annals of Neurology, EarlyView.
Multiple sclerosis (MS) and Alzheimer's disease are neurodegenerative diseases with age‐related disability accumulation. In MS, inflammation spans decades, whereas AD is characterized by Aβ plaques and neurofibrillary tangles (NFT). Few studies explore accumulation of amyloids in MS.
J. Pansieri, M. Pisa, S. Yee, A. Gutnikova, E. Ridgeon, R. Hickman, J.I. Spencer, M.M. Esiri, G.C. DeLuca   +8 more
wiley   +1 more source

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Epilepsy

Neurological Sciences, 2008
MR is a fundamental step in the diagnostic path of patients with medically refractory partial epilepsy (MRPE) potentially amenable to surgery. The most frequent lesions harboured by these patients are: malformations of cortical development (MCD), mainly focal cortical dysplasias (FCD); epileptogenic tumours, such as dysembryoplastic neuroepithelial ...
Nadia Colombo, Alberto Citterio
openaire   +3 more sources