Results 251 to 260 of about 8,887,267 (401)

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

Pioneering protein degradation for agricultural applications. [PDF]

open access: yesCommun Biol
Morgan GL   +23 more
europepmc   +1 more source

Breaking Bad Proteins—Discovery Approaches and the Road to Clinic for Degraders [PDF]

open access: gold
Corentin Bouvier   +6 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

Retraction Note to: KLF5 regulated lncRNA RP1 promotes the growth and metastasis of breast cancer via repressing p27kip1 translation

open access: yesCell Death and Disease
Xiaoting Jia   +13 more
doaj   +1 more source

Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs.
Dennis Yeow   +6 more
wiley   +1 more source

In-Cell Approach to Evaluate E3 Ligases for Use in Targeted Protein Degradation. [PDF]

open access: yesJ Am Chem Soc
Zheng Y   +13 more
europepmc   +1 more source

Fibrinogen Changes Before and After Intravenous Thrombolysis as Predictors of Cerebral Injury and Clinical Outcomes in Acute Ischemic Stroke: A Multicenter Prospective Cohort Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Plasma fibrinogen is essential in thrombosis and fibrinolysis, yet its dynamic changes pre‐ and post‐intravenous thrombolysis (IVT) for predicting brain injury severity and prognosis in acute ischemic stroke (AIS) patients remain unclear.
Wenhai Zhai   +28 more
wiley   +1 more source

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