Results 241 to 250 of about 1,154,991 (281)

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas   +18 more
wiley   +1 more source

Relapsing–Remitting Multiple Sclerosis Is Associated With a Dysbiotic Oral Microbiome

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Multiple sclerosis (MS) is a chronic autoimmune disorder characterized by inflammation, demyelination, and neurological impairment. While the gut microbiota's role in MS is extensively studied, the association between the oral microbiota and MS remains underexplored, particularly in North American cohorts.
Sukirth M. Ganesan   +12 more
wiley   +1 more source

INFLUENCES OF GENE-ENVIRONMENT INTERACTIONS ON CARDIOVASCULAR DISEASES AND NUTRITION

open access: diamond, 2015
Carlos Syllas Monteiro Luz   +9 more
openalex   +2 more sources

Plasma Proteomic Signatures for Alzheimer's Disease: Comparable Accuracy to ATN Biomarkers and Cross‐Platform Validation

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background There is growing recognition of the potential of plasma proteomics for Alzheimer's Disease (AD) risk assessment and disease characterization. However, differences between proteomics platforms introduce uncertainties regarding cross‐platform applicability.
Manyue Hu   +9 more
wiley   +1 more source

Persistent Leukoencephalopathy Following H1N1 Infection Associated With a Novel MYRF Variant (p.Gly735Asp)

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Mutations in myelin regulatory factor (MYRF) are linked to demyelinating disorders. We report a 38‐year‐old male who developed acute symmetric leukoencephalopathy mimicking a stroke following an influenza A virus infection. While clinical symptoms markedly improved with corticosteroids, MRI revealed persistent white matter lesions, contrasting
Jinghan Hu   +5 more
wiley   +1 more source

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