Results 161 to 170 of about 72,996 (238)

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito   +8 more
wiley   +1 more source

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier   +6 more
wiley   +1 more source

Safety evaluation of the food enzyme arabinan endo-1,5-α-l-arabinanase from the non-genetically modified <i>Aspergillus tubingensis</i> strain GPA41. [PDF]

open access: yesEFSA J
EFSA Panel on Food Enzymes (FEZ)   +17 more
europepmc   +1 more source

Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs   +7 more
wiley   +1 more source

Safety evaluation of an extension of use of the food enzyme glucan 1,4-α-maltohydrolase from the genetically modified <i>Bacillus licheniformis</i> strain NZYM-CY. [PDF]

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

Paramagnetic Rim Lesions and Choroid Plexus Volume at Diagnosis Are Associated With Cognitive Progression Independent of Relapse and MRI Activity in Early Relapsing–Remitting Multiple Sclerosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Paramagnetic rim lesions (PRLs) and choroid plexus (CP) enlargement reflect smoldering inflammation in multiple sclerosis. Their role in cognitive progression remains unexplored. Eighty‐seven early relapsing–remitting MS patients were enrolled at diagnosis and followed longitudinally.
Stefano Ziccardi   +15 more
wiley   +1 more source

Safety evaluation of an extension of use of the food enzyme glucan 1,4-α-maltohydrolase from the genetically modified <i>Bacillus licheniformis</i> strain NZYM-FR. [PDF]

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

Interaction of Intraprocedural Antiplatelets and Intravenous Thrombolysis in Acute Intracranial Stenting: RESISTANT Registry Subanalysis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction/Objective Acute intracranial stenting during endovascular thrombectomy (EVT) for ischemic stroke requires intraprocedural antiplatelet therapy (APT) to maintain patency. However, the hemorrhagic risk of combining APT with intravenous thrombolysis (IVT) remains uncertain.
Aaron Rodriguez‐Calienes   +75 more
wiley   +1 more source

Updated safety evaluation of the food enzyme glucan 1,4-α-maltohydrolase from the genetically modified <i>Bacillus subtilis</i> strain BABSC. [PDF]

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

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