Results 121 to 130 of about 256,194 (269)

AI-Assisted WES Variant Interpretation in Neurodevelopmental Disorders: A Narrative Review of Existing Tools. [PDF]

Genes (Basel)
Treccarichi S, Vinci M, Musumeci A, Galati Rando R, Fallea A, Brancato D, Bruno F, Federico C, Saccone S, Elia M, Cali F.   +10 more
europepmc   +1 more source

Early Clinical and Cerebrospinal Fluid Predictors of 1‐Year Recurrence in Autoimmune GFAP Astrocytopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Autoimmune glial fibrillary acidic protein astrocytopathy (GFAP‐A) is an inflammatory central nervous system disorder with variable outcomes. Relapse occurs in a subset of patients, but early predictors remain unclear. We aimed to identify admission‐available features associated with 1‐year recurrence and develop an interpretable ...
Qingting Hong, Yuping Xiao, Yuhan Wu, Ziyuan Huang, Weishan Liang, Li Xiao, Yaqing Shu, Tingting Lu, Yanyu Chang, Wei Qiu, Yuge Wang   +10 more
wiley   +1 more source

The Manipulation of Host Cells by <i>Salmonella</i>. [PDF]

Int J Mol Sci
Worley MJ.
europepmc   +1 more source

Ofatumumab Therapy and Long‐Term Seizure Outcomes of Patients With Relapsing Anti‐NMDA Receptor Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There is a lack of studies on seizure outcomes associated with ofatumumab therapy in patients for relapsing anti‐N‐methyl‐D‐aspartate (NMDA) receptor encephalitis. We aimed to evaluate long‐term seizure outcomes of ofatumumab therapy for relapsing anti‐NMDA receptor encephalitis.
Jian Wang, Mengjiao Li, Ping Kong
wiley   +1 more source

Copine‐4 Paraneoplastic Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We characterize copine‐4 (CPNE4)‐IgG and report clinical associations. Among 844 samples with unclassified neural IgGs identified by mouse‐brain indirect immunofluorescence assay over 2 years, 5 samples (serum, 3; CSF, 2) from 3 patients produced a distinctive cerebrum‐restricted synaptic pattern.
Mimi S. Fang, Amy Ml Quek, Clement Yong, Amir Adeli, Gabrielle N. Conway, Connie E. Lesnick, Diana Anissian, Divyanshu Dubey, John R. Mills, Sean J. Pittock, Anastasia Zekeridou, Michael Gilligan, Andrew McKeon   +12 more
wiley   +1 more source

PubMind: literature-based genetic variant extraction and functional annotation using large language models. [PDF]

Nat Commun
Wang P, Wang K.
europepmc   +1 more source

Investigation of Complement Activation and Cytokine Signatures in AQP4+ NMOSD, MOGAD, and MS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Aquaporin‐4‐IgG seropositive neuromyelitis optica spectrum disorder (AQP4+ NMOSD), myelin oligodendrocyte glycoprotein antibody‐associated disease (MOGAD), and multiple sclerosis (MS) are pathophysiologically distinct neuroinflammatory disorders. Complement activation is a major mechanism of injury in AQP4+ NMOSD, whereas its role in
Angeliki G. Filippatou, Susana Dominguez‐Penuela, David Acero‐Garces, Georgios Gakis, Matthew D. Smith, Yasmin Resto, Maria Reyes‐Mantilla, Haiwen Chen, Isabella Hernandez, Yana Said, Andrea Salazar‐Camelo, Christina Huynh, Alessia Tassoni, Ted Yednock, Rick Artis, Yaisa Andrews‐Zwilling, Scott D. Newsome, Shiv Saidha, Pavan Bhargava, Ellen M. Mowry, Kathryn C. Fitzgerald, Peter A. Calabresi, Carlos A. Pardo, Elias S. Sotirchos   +23 more
wiley   +1 more source

Beyond Virulence: A Multi-Trait Development Framework for Advancing Entomopathogenic Fungi into Mycoinsecticides. [PDF]

Microorganisms
Luo M, Wu J, Zhang H, Liao N, Chen W, Hu Q.   +5 more
europepmc   +1 more source

Pathogen Discovery

PLoS Pathogens, 2008
openaire   +5 more sources

Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez, Amy Tam, Siofra Carty, Monica Ferrer Socorro, Kathryn Yang, Darius Ebrahimi‐Fakhari   +5 more
wiley   +1 more source