Results 151 to 160 of about 415,720 (292)

Discovery and Treatment of Action Potential‐Independent Myotonia in Hyperkalemic Periodic Paralysis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hyperkalemic periodic paralysis (hyperKPP) is characterized by attacks of transient weakness. A subset of hyperKPP patients suffers from transient involuntary contraction of muscle (myotonia). The goal of this study was to determine mechanisms causing myotonia in hyperKPP.
Chris Dupont   +4 more
wiley   +1 more source

The α1A/C- and α1B-adrenergic receptors are required for physiological cardiac hypertrophy in the double-knockout mouse [PDF]

open access: bronze, 2003
Timothy D. O’Connell   +10 more
openalex   +2 more sources

Characterization of a STAT-1 Knockout Mouse Model for Machupo Virus Infection and Pathogenesis. [PDF]

open access: yesViruses
Monticelli SR   +13 more
europepmc   +1 more source

Deregulated Transcription and Proteostasis in Adult mapt Knockout Mouse. [PDF]

open access: yesInt J Mol Sci, 2023
Andrés-Benito P   +10 more
europepmc   +1 more source

Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó   +17 more
wiley   +1 more source

Single-cell RNA sequencing dataset of hearts from wild type and Cyp26b1 knockout mouse embryos. [PDF]

open access: yesSci Data
Zhang Z   +7 more
europepmc   +1 more source

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