Results 271 to 280 of about 3,915,663 (339)

The Diverse Neuromuscular Spectrum of VPS13A Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

INF2‐Related Charcot–Marie–Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

Characteristics of pediatric SARS-CoV-2 healthcare-associated infection outbreaks in Germany, 2020-2023: a retrospective observational study. [PDF]

open access: yesEur J Pediatr
Schneider LE   +7 more
europepmc   +1 more source

Alzheimer's Imaging Consortium. [PDF]

open access: yesAlzheimers Dement
Behrenbruch N   +22 more
europepmc   +1 more source
Some of the next articles are maybe not open access.

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The Germans As They Are and Will Be

The Modern Language Journal, 1934
THIS is not a glorification but a description of the German mentality, the forces which produced it, and a query as to what may be expected of it. For reference we will note Miiller Freienfels, the best psychological analyst of the German mentality, and Friedrich Ratzel, the author of anthropogeography, and the new science of geopolitics.
openaire   +1 more source

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