Results 101 to 110 of about 6,529 (164)

Genetic modifiers modulate phenotypic expression of tafazzin deficiency in a mouse model of Barth syndrome. [PDF]

Hum Mol Genet, 2023
Wang S, Yazawa E, Keating EM, Mazumdar N, Hauschild A, Ma Q, Wu H, Xu Y, Shi X, Strathdee D, Gerszten RE, Schlame M, Pu WT.   +12 more
europepmc   +1 more source

A case of infantile Barth syndrome with severe heart failure: Importance of splicing variants in the TAZ gene. [PDF]

Mol Genet Genomic Med, 2023
Takeda A, Ueki M, Abe J, Maeta K, Horiguchi T, Yamazawa H, Izumi G, Chida-Nagai A, Sasaki D, Tsujioka T, Sato I, Shiraishi M, Matsuo M.   +12 more
europepmc   +1 more source

Cardiac Transplantation Does Not Improve Exercise Tolerance, Muscle Mass, or Substrate Metabolism in Barth Syndrome. [PDF]

JIMD Rep
Cade WT, Bohnert KL, Peterson LR, Fuentes LL, Poehlein E, Green CL, Pacak CA, Byrne BJ, Reeds DN, Bashir A, Feingold B, Taylor C.   +11 more
europepmc   +1 more source

The Impact of Raising Children with Barth Syndrome on Parental Health-Related Quality of Life and Family Functioning: Preliminary Reliability and Validity of the PedsQL™ Family Impact Module. [PDF]

Occup Ther Int, 2023
Lim Y, Hong I, Han A.
europepmc   +1 more source

Expanded-access use of elamipretide in a newborn with Barth syndrome: a case report. [PDF]

Eur Heart J Case Rep
Ortmann L, Velasco D, Cole J.
europepmc   +1 more source

A novel <i>TAFAZZIN</i> gene variant c.525_533del causing Barth syndrome and leading to heart transplantation: a case report. [PDF]

Front Pediatr
Krawiec M, Śliwka J, Pawlak S, Kapałka M, Hamerling P, Grzywacz W, Hawel W, Skórska G, Piekutowska-Abramczuk D, Hrapkowicz T.   +9 more
europepmc   +1 more source

What can ATP content tell us about Barth syndrome muscle phenotypes? [PDF]

J Transl Genet Genom
Brault JJ, Conway SJ.
europepmc   +1 more source

Allogenic mitochondria transfer improves cardiac function in iPS-cell-differentiated cardiomyocytes of a patient with Barth syndrome. [PDF]

Exp Mol Med
Kim YS, Yoo S, Jung YJ, Yoon JW, Kwon YS, Lee N, Cheon CK, Kim JH.   +7 more
europepmc   +1 more source

Barth Syndrome: <i>TAFAZZIN</i> Gene, Cardiologic Aspects, and Mitochondrial Studies-A Comprehensive Narrative Review. [PDF]

Genes (Basel)
Sergi CM.
europepmc   +1 more source

Cell-Penetrating Peptide Enhances Tafazzin Gene Therapy in Mouse Model of Barth Syndrome. [PDF]

Int J Mol Sci
Raghav R, Awata J, Martin GL, Strathdee D, Blanton RM, Chin MT.   +5 more
europepmc   +1 more source