Results 151 to 160 of about 363 (235)

Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce   +72 more
wiley   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza   +19 more
wiley   +1 more source

A Systematic Comparison of Alpha‐Synuclein Seed Amplification Assays for Increasing Reproducibility

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Seed amplification assays (SAAs) enable ultrasensitive detection of misfolded α‐synuclein across biofluids and tissues. Yet, heterogeneity in protocols limits cross‐study comparability and clinical translation. Here, we review α‐synuclein SAA methods and their performance across various biological matrices.
Manuela Amaral‐do‐Nascimento   +3 more
wiley   +1 more source

Remolding laccase for whole-cell and in vivo modulation of dopamine signal. [PDF]

open access: yesSci Adv
Yang X   +14 more
europepmc   +1 more source

Accuracy of Diagnostic Codes and Algorithms Used to Identify Rheumatoid Arthritis and Juvenile Idiopathic Arthritis in Administrative Claims and Electronic Health Records: Systematic Review and Meta‐Analysis

open access: yesArthritis Care &Research, EarlyView.
Objective This systematic review aimed to assess the diagnostic accuracy of algorithms used to identify rheumatoid arthritis and juvenile idiopathic arthritis in electronic health records. Methods We searched Medline, Embase, and Cochrane Central Register for Controlled Trials databases and included studies that validated case definitions against a ...
Constanza Saka‐Herrán   +10 more
wiley   +1 more source

Metal-oxide phase transition of platinum nanocatalyst below fuel cell open-circuit voltage. [PDF]

open access: yesNat Commun
Campos-Roldán CA   +10 more
europepmc   +1 more source

Clinical Practice Guideline for Evaluation and Management of Peripheral Nervous System Manifestations in Sjögren's Disease

open access: yesArthritis Care &Research, EarlyView.
Objective Sjögren's disease is an autoimmune disorder that can impact multiple organ systems, including the peripheral nervous system (PNS). PNS manifestations, which can exist concurrently, include mononeuropathies, polyneuropathies, and autonomic nervous system neuropathies.
Anahita Deboo   +88 more
wiley   +1 more source

On the use of beam precession for serial electron crystallography. [PDF]

open access: yesJ Appl Crystallogr
Plana-Ruiz S   +3 more
europepmc   +1 more source

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