Gracile Syndrome Latest Advances
Find the Latest Research About Gracile Syndrome
Last Updated: 04/28/2026
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Found 11 publications
Effect of caring leadership intervention program for first-line nurse managers on their managerial actions and nurse outcomes.
Journal: Journal of advanced nursing
Published: March 12, 2023
Identification of two novel variants of BCS1L gene in a patient with classical GRACILE syndrome.
Journal: Nephrology (Carlton, Vic.)
Published: May 23, 2022
Fasting reveals largely intact systemic lipid mobilization mechanisms in respiratory chain complex III deficient mice.
Journal: Biochimica et biophysica acta. Molecular basis of disease
Published: June 03, 2019
Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model.
Journal: Orphanet journal of rare diseases
Published: December 23, 2016
A NEONATE PRESENTING WITH GRACILE SYNDROME AND BJORNSTAD PHENOTYPE ASSOCIATED WITH BCS1L MUTATION.
Journal: Genetic counseling (Geneva, Switzerland)
Published: January 01, 2016
BCS1L gene mutation causing GRACILE syndrome: case report.
Journal: Renal failure
Published: March 25, 2014
GRACILE syndrome--a severe neonatal mitochondrial disorder
Journal: Duodecim; laaketieteellinen aikakauskirja
Published: September 14, 2012
Clinical and biochemical features associated with BCS1L mutation.
Journal: Journal of inherited metabolic disease
Published: May 08, 2012
Complex III staining in blue native polyacrylamide gels.
Journal: Journal of inherited metabolic disease
Published: October 15, 2010
The GRACILE mutation introduced into Bcs1l causes postnatal complex III deficiency: a viable mouse model for mitochondrial hepatopathy.
Journal: Hepatology (Baltimore, Md.)
Published: August 12, 2010
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Last Updated: 04/28/2026