Results 241 to 250 of about 1,949,061 (374)

Cloning of an Annelid Fibrillar‐Collagen Gene and Phylogenetic Analysis of Vertebrate and Invertebrate Collagens [PDF]

open access: bronze, 1997
F.-X. Sicot   +5 more
openalex   +1 more source

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

Improved vectors for retron-mediated CRISPR-Cas9 genome editing in Saccharomyces cerevisiae. [PDF]

open access: yesG3 (Bethesda)
Stuecker TN   +6 more
europepmc   +1 more source

A Comprehensive Overview of the Clinical, Electrophysiological, and Neuroimaging Features of BPAN: Insights From a New Case Series

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Neurodegeneration with brain iron accumulation (NBIA) comprises a genetically and clinically heterogeneous group of rare neurological disorders characterized particularly by iron accumulation in the basal ganglia. To date, 15 genes have been associated with NBIA.
Seda Susgun   +95 more
wiley   +1 more source

Positional cloning of the wheat vernalization gene VRN1

open access: yesProceedings of the National Academy of Sciences of the United States of America, 2003
Liuling Yan   +5 more
semanticscholar   +1 more source

Clinical Characteristics and Outcomes of Early‐Onset Versus Late‐Onset LGI1‐Antibody Encephalitis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Leucine‐rich glioma‐inactivated 1 antibody (LGI1‐Ab) encephalitis predominantly affected older individuals, but has also been reported in younger patients. However, the demographic, clinical, and prognostic characteristics of early‐onset LGI1‐Ab encephalitis have yet to be systematically elucidated. This study aims to systematically
Yu Kong   +7 more
wiley   +1 more source

Cytosolic TOP3α facilitates mitochondrial DNA sensing by cGAS. [PDF]

open access: yesEMBO Rep
Cai D   +9 more
europepmc   +1 more source

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