Results 231 to 240 of about 3,336,192 (297)

Safety evaluation of an extension of use of the food enzyme bacillolysin from the non-genetically modified <i>Bacillus amyloliquefaciens</i> strain HPN 131. [PDF]

open access: yesEFSA J
EFSA Panel on Food Enzymes (FEZ)   +15 more
europepmc   +1 more source

Validation of a Cellular Imaging‐Based Method as a Potential Biomarker for SPG4 Hereditary Spastic Paraplegia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Hereditary Spastic Paraplegia (HSP) comprises a group of rare genetic diseases characterized by length‐dependent axonal degeneration of the corticospinal tracts and dorsal columns, whose main clinical feature is spastic gait. Pathogenic variants in the SPG4 gene cause Spastic Paraplegia Type 4 (SPG4‐HSP), the most common form of HSP.
Gaia Fattorini   +12 more
wiley   +1 more source

Assessment of genetically modified soybean DAS-44406 × FG72 (dossier GMFF-2025-34192). [PDF]

open access: yesEFSA J
EFSA Panel on Genetically Modified Organisms (GMO)   +28 more
europepmc   +1 more source

Intracerebral Hemorrhage Induces Monocyte TNF Signaling in Patients That Is Suppressed by BAF312

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Intracerebral hemorrhage (ICH) causes high morbidity and mortality, with neurotoxic inflammation driven by infiltrating monocytes. This study is an in‐depth longitudinal examination of the immune response during the first week of ICH in the presence and absence of the immunomodulatory drug BAF312 (Siponimod).
Jonathan Howard DeLong   +10 more
wiley   +1 more source

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi   +6 more
wiley   +1 more source

Safety evaluation of an extension of use of the food enzyme carboxypeptidase D from the genetically modified <i>Aspergillus oryzae</i> strain NZYM-MK. [PDF]

open access: yesEFSA J
EFSA Panel on Food Enzymes (FEZ)   +15 more
europepmc   +1 more source

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan   +7 more
wiley   +1 more source

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