Results 301 to 310 of about 8,371,157 (388)
The Diverse Neuromuscular Spectrum of VPS13A Disease
ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger +16 more
wiley +1 more source
Motor phenotypes and neurofilament light chain in genetic amyotrophic lateral sclerosis-results from a multicenter screening program. [PDF]
Schmitt P +27 more
europepmc +1 more source
Media Coverage of Climate Activist Groups in Germany
Fabian Dablander +2 more
openalex +2 more sources
INF2‐Related Charcot–Marie–Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights
ABSTRACT Background INF2 mutations cause focal segmental glomerulosclerosis (FSGS) and Charcot–Marie–Tooth disease (CMT). Accurate genetic diagnosis is critical, as INF2‐related FSGS is typically resistant to immunotherapy yet rarely recurs after transplantation, and its associated neuropathy can mimic treatable immune‐mediated disorders such as ...
Chikashi Yano +27 more
wiley +1 more source
Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco +18 more
wiley +1 more source
Correction: Significant increase of firework induced eye injuries in Germany and The Netherlands- are we doing enough to protect minors and bystanders? [PDF]
Gabel-Pfisterer A +6 more
europepmc +1 more source
ABSTRACT Objective Natalizumab (NTZ) is a highly effective therapy for multiple sclerosis (MS); however, its use is limited by the risk of a rare potentially severe opportunistic brain infection, progressive multifocal leukoencephalopathy (PML). Alternative dosing strategies are evaluated to reduce PML risk while still maintaining efficacy, which ...
Regina Berkovich +10 more
wiley +1 more source
Feasibility and utility of telemedical support through a paramedic-led primary response service to aid emergency services in northwestern Germany. [PDF]
Overheu D +4 more
europepmc +1 more source

