Results 241 to 250 of about 2,480,811 (338)

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

Technetium(I) Complexes Bearing l- or d‑Amino Acids as Tumor-Seeking Agents. [PDF]

open access: yesACS Omega
Silva RDM   +6 more
europepmc   +1 more source

Amino acid sequence of a progesterone-binding protein.

open access: green, 1978
R A Popp   +3 more
openalex   +2 more sources

Insights Into the Antigenic Repertoire of Unclassified Synaptic Antibodies

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We sought to characterize the sixth most common finding in our neuroimmunological laboratory practice (tissue assay‐observed unclassified neural antibodies [UNAs]), combining protein microarray and phage immunoprecipitation sequencing (PhIP‐Seq). Methods Patient specimens (258; 133 serums; 125 CSF) meeting UNA criteria were profiled;
Michael Gilligan   +22 more
wiley   +1 more source

Stabilizing effect of amino acids on protein and colloidal dispersions. [PDF]

open access: yesNature
Mao T   +13 more
europepmc   +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

mTORC1 senses glutamine and other amino acids through GCN2. [PDF]

open access: yesEMBO J
Figlia G   +6 more
europepmc   +1 more source

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